Property Summary

NCBI Gene PubMed Count 519
PubMed Score 283.88
PubTator Score 2021.90

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
astrocytic glioma -1.100 7.7e-03
ependymoma -1.200 9.4e-03
oligodendroglioma -1.200 5.9e-03
diabetes mellitus 2.100 1.2e-03
ovarian cancer 1.500 8.7e-14

Gene RIF (445)

PMID Text
26735018 ID2 binds to the VHL ubiquitin ligase complex, displaces VHL-associated Cullin 2, and impairs HIF2alpha ubiquitylation and degradation
26647960 HBV induces the HIF2alpha expression through its encoded protein HBx. This upregulates the HIF-2alpha expression by binding to the pVHL activating the NF-kappaB signaling pathway
26620126 VHL was shown to influence cellular metabolism through its effect on HIF proteins as well as by affecting activity of other factors.
26591561 Hereditary pheochromocytoma / paraganglioma associated with VHL gene mutations has more aggressive course,bilateral adrenal involvement, higher recurrence rate, younger age at disease manifestations.
26572705 inhibition of miR566 expression increases the expression levels of VHL, decreases the expression levels of VEGF, and inhibits the invasive and migratory abilities of glioblastoma.
26506913 proteome and phospho-proteomic analysis of isogenic 786-O renal cell carcinoma (+/-VHL) cells to compare signatures that reflect hypoxia and/or loss of VHL protein
26308528 Pars plana vitrectomy in advanced VHL eye disease can improve or preserve visual function, but postoperative progression of ocular VHL disease can be accelerated in cases where retinotomy is performed.
26304926 AR-suppressed miRNA-145 is a key player in renal cell carcinoma progression by regulating HIF2alpha/VEGF/MMP9/CCND1 expression levels, irrespective of VHL status.
26296657 pVHL interacts with CERKL and ubiquitinates it for oxygen dependent proteasomal degradation.
26224408 VHLp19 has a role for regulating EPO levels that VHLp30 does not have, whereas VHLp30 is really the tumor suppressor isoform.
26211615 Of note, we also observed that the shorter pVHL19 isoform shows an unexpected high tendency to form homodimers, suggesting an additional isoform-specific binding specialization.
26191297 APOE, VHL and MTHFR gene polymorphisms were related to the risk of renal cell carcinoma
26179906 pVHL Negatively Regulates Antiviral Signaling by Targeting MAVS for Proteasomal Degradation
25966224 Novel frameshift mutation in the VHL gene of the family members that contributes to VHL was detected.
25915846 Data indicate that mutant VHL can protect HIF1alpha from SART1-dependent degradation in normoxic conditions, but this protection is lost in hypoxic settings, favoring hypoxia-dependent ccRCC proliferation.
25890500 Distinct von Hippel-Lindau gene and hypoxia-regulated alterations in gene and protein expression patterns of renal cell carcinoma are accompanied with distinct metabolic changes.
25773797 VHL gene abnormalities were identified in the Chinese family with non-syndromic PCCs.
25750939 HBV up-regulated miR-331-3p expression in HCC cell lines and miR-331-3p could inhibit VHL expression by directly targeting its 3'-UTR
25749518 ZBRK1 suppresses renal cancer progression perhaps by regulating VHL expression through formation of a complex with VHL and p300 in renal cancer
25732088 VHL can inhibit SARS-CoV replication by regulating nsp16 ubiquitination and promoting its degradation.
25683602 14 (51.9%) patients had a germline mutation in the succinate dehydrogenase subunit B gene (SDHB), and 3 (11.1%) had mutations in the von Hippel-Lindau gene
25661653 The crystal structure of VHL bound to a Cul2 N-terminal domain, Elongin B, and Elongin C.
25589003 Deep-coverage sequence analysis techniques uncovered VHL alterations within the neoplastic fraction of tumors. Findings support the role of VHL inactivation in the pathogenesis of familial and sporadic hemangioblastomas.
25557216 A previously unclassified variant in the von Hippel Lindau disease gene (c.361G>C) is identified in a family with the disease.
25531723 We also describe how the St. Gallen VHL multidisciplinary group is organised as an example of interdisciplinary cooperation in a tertiary hospital in Switzerland.
25501229 Results from mutational analysis and genetic association studies in a Chinese family with Von Hippel-Lindau syndrome identified a novel small duplication creating a premature stop signal, resulting in severely truncated VHL protein.
25500545 RSUME is expressed in VHL tumors and inhibits VHL and regulates its tumor suppressor function.
25499220 Thus, Fulvestrant but not Tamoxifen, antagonist against ER-alpha, can restore the Taxol sensitivity in VHL- or BRCA1-deficient cells. Our results suggest that pVHL-mediated ER-alpha suppression is important for regulation of MTOC as well as drug resistance.
25490036 Decreased VHL expression is associated with tumor progression in papillary thyroid carcinoma.
25451921 NEK8 may be a new target gene of HIFs; pVHL can down-regulate NEK8 via HIFs to maintain the primary cilia structure in human renal cancer cells
25338163 Molecular dynamics of hif-1alpha and VHL may determine the success of antineoplastic strategies in hypoxia-reoxygenation as predicted by computational modeling.
25313256 role for beta-catenin in regulating AURKA and formation of primary cilia in the setting of VHL deficiency
25217002 results confirmed that the existence of G allele in both rs779805 and rs1642742 in the von Hippel-Lindau tumor suppressor gene is of importance in renal cell carcinoma tumorigenesis
25078357 Data show the spectrum of von Hippel-Lindau disease tumor suppressor (VHL) protein mutations in Korean von Hippel-Lindau (VHL) disease.
25069792 This is also the first nonsense mutation to manifest as VHL disease type 2 in ethnic Chinese
25027579 Nonsense mutations of the VHL gene appear to be related with poorer prognosis and survival in renal clear cell carcinoma.
24998140 VHL was significantly correlated with EMT process of OSCC. beta-Catenin was an important downstream gene of VHL besides HIF-1alpha, which could induce the EMT process in OSCC
24977658 Thirty-two percent (16/50) of patients were found to be positive for mutations including mutations among RET (n=4), VHL (n=6), SDHB (n=3), and SDHD (n=3) genes.
24915993 Interaction between Nm23 and the tumor suppressor VHL
24727139 This is the first report that identifies molecular aberrations in the VHL gene from a South Asian population.
24715760 The purpose of this study was to investigate the co-expression patterns of transcription factor HIF-1alpha and von Hippel Lindau protein (pVHL) and heat shock proteins in pterygium and normal conjunctival human samples.
24704013 Exon 1 methylation may be an alternate mechanism of VHL gene silencing in renal cell carcinoma in addition to mutation and promoter methylation.
24678776 The authors describe a case of multiple CNS hemangioblastoma in a patient with a heterozygous de novo germline mutation at c.239G>T [p.S80I] of VHL
24650032 this is the first report to demonstrate that miR-566 expression is significantly increased in glioma cells and modulated the EGFR pathway through direct targeting of VHL
24583008 novel roles of pVHL in cancer
24581539 of the 19 Chinese Von Hippel-Lindau (VHL) disease families studied, 9 (47.4%) families had no family history and 9 families (47.4%) carried novel mutations; findings might suggest the higher prevalence of de novo mutations in VHL gene in Chinese VHL disease patients
24550497 Loss of heterozygosity, hallmarked by VHL deletion in clear cell renal cell carcinoma, may uniquely shape tumor metabolism.
24549640 The VHL gene is expressed in the normal human endometrium, and its expression levels change during the different periods of the menstrual cycle.
24469044 our study describes a new mechanism for p53 stabilization through PDCD5 upon hypoxia or pVHL loss, and reveals new clinical potential for the treatment of pathobiological disorders linked to hypoxic stress
24446253 VHL gene variations are associated with the early-stage clear cell renal cell carcinoma.
24422631 VHL enhances androgen receptor (AR) de-ubiquitination rather than inducing AR ubiquitination.
24394472 We demonstrate that hemangioblastic differentiation capacity of VHL-deficient hemangioblastic cells includes not only erythropoiesis, but also differentiation into primitive vasculogenetic structures
24359042 VHL mutations are not related to tubal pregnancy
24344197 HIFa1 plays an essential role in the pathogenesis of renal cell carcinoma under normoxic conditions, through the loss of the Von Hippel-Lindau gene
24335534 VHL gene investigations support a key role for functional alterations of the VHL gene in capillary hemangioblastomas.
24288256 VHL methylation is associated with pancreatic and colorectal cancer.
24166983 Somatic noncoding VHL alterations were identified in 29% of ccRCCs and may be associated with improved overall survival.
24149212 Epigenetic modifications affecting the promoters of ZNF154, CASP8, and VHL are shared across a vast array of tumor types and may therefore be important for understanding the genomic landscape of cancer.
24149047 VHL gene was found increased MetI in tumors as compared with normal adrenals, in malignant vs. benign tumors, and in paragangliomas vs. pheochromocytomas. Decreased expression of the VHL gene was observed in all tumors compared with normal adrenals.
24112038 A novel function of pVHL and demonstrate a negative-feedback loop between pVHL and E2F1, which may shed new light on the explanation of the role of pVHL in tumour suppression.
24067370 Loss of VHL promotes progerin expression, leading to impaired p14/ARF function and suppression of p53 activity.
24029645 Mutation frequencies among CT images of clear cell RCCs were as follows: VHL, 53.2% (124 of 233).
24002598 PIAS4 interacts with the tumour suppressor von Hippel-Lindau (VHL) and leads to VHL sumoylation, oligomerization, and impaired function.
23990666 The TCE-associated P81S VHL mutation can initiate a unique adaptive response required for selective tumor growth through pleiotropic effects on metabolic diversification, apoptosis suppression, and alteration of the DNA damage response.
23961993 VHL-UXT interaction and VHL-induced ubiquitination of androgen receptor(AR) regulate transcriptional activation of the AR.
23902947 VHL, involved in tumorigenesis of paragangliomas and clear cell renal cell carcinomas, may be an important player in the pathogenesis of sporadic Head and neck paragangliomas via activation of an HIF-1alpha/miR-210 pHx pathway
23881929 VHL gene inactivation by mutation and/or methylation is associated with metastatic clear-cell renal cell carcinoma.
23872148 Our results show the mechanism for the cytological origin of neoplastic stromal cells in hemangioblastomas, and suggest that inhibition of the HIF pathway is an attractive strategy for the treatment of hemangioblastomas.
23842656 Heterozygous variants of the VHL gene, c.A233G (p.N78S) within exon 1 and c.G482A (p.R161Q) within exon 3, were verified.
23840444 Mutant pVHL proteins have lower stability than the wild type, distort the core domain and as a result reduce the ability of the protein to bind its target HIF-1alpha.
23785518 These results suggest that Aurora-A and VHL interact in the ccRCC. We demonstrated that the two proteins interact in vivo and identified the Ser72 on the sequence of VHL as the unique site phosphorylated by Aurora-A.
23730213 VHL mediates ERK5 degradation through prolyl hydroxylation-dependent mechanism.
23673869 This is the first study that identified VHL p.A149S mutation in a Turkish family with VHL syndrome.
23626751 P.Arg82Leu VHL gene mutation among three members of a family with asymptomatic familial bilateral pheochromocytoma in India has been described.
23612971 Expression of pVHL also leads to nuclear retention of pre-40S ribosomal subunits, diminishing polysomes and 18S rRNA levels.
23611775 Data indicate that both stabilization of HIF-1alpha expression under nomoxia caused by pVHL deficiency and hypoxia treatment significantly reduced SOD2 expression.
23601303 Studies suggest that hypoxia, HIF-1 alpha, PHD3 and pVHL could be considered as potential therapeutic targets for lung cancer pathogenesis and progression.
23558940 Our results confirm that somatic inactivation of the VHL gene may play a pivotal role in the tumorigenesis of sporadic ccRCCs in Italian patients
23481210 Data suggest that pheochromocytoma and paraganglioma can be divided into two groups based on mutations, cluster 1 (succinate dehydrogenases/von Hippel-Lindau syndrome protein) and cluster 2 (c-ret proto-oncogene/neurofibromin 1). [REVIEW]
23473032 Loss of VHL Renders RCC Cells Sensitive to glutamine deprivation.
23455319 results identify VHL as a component of the DDR network, inactivation of which contributes to the genomic instability associated with CCRCC
23434161 Suggest that sequence variation in the VHL gene is potentially involved in the formation of intracranial aneurysms in a subset of patients.
23407919 Germline mutations in VHL gene is associated with pheochromocytoma.
23403324 Data show that erythropoietin levels in homozygous Von Hippel-Lindau (VHL) H191D individuals are higher than in VHL R200W patients.
23395608 Results indicate that overexpression of VHL may antagonize Hedgehog-Gli activation at the post-translational level in Hedgehog pathway-induced cancers.
23393199 Data indicate that von Hippel-Lindau (VHL)-deficient clear cell renal cell carcinomas (RCC) are dependent upon c-Jun-NH(2)-kinase (JNK) activity for in vitro and in vivo growth.
23387829 TCTP binds to the beta domain of VHL through competition with HIF1alpha, which promotes VHL degradation by the ubiquitin-proteasome system and HIF1alpha stability.
23338840 VHL regulated the tumorigenicity and self-renewal ability of glioma cancer stem cells by inhibiting the JAK/STAT signaling pathway.
23318261 These findings provide direct biological insight into VHL-associated tumors.
23315288 In the context of oxidative stress, p-AKT facilitated apoptosis by inducing pVHL function in prostate cells.
23298237 describe the earliest onset renal cell carcinoma in VHL disease reported so far in a 15-year-old boy with a nonsense VHL mutation
23255108 Non-phosphorylable pVHL reconstituted in VHL-deficient cells induces more stable cilia than wild-type VHL during serum stimulation
23224817 these findings suggest that the risk of renal cell carcinoma in VHL is attributable to the severity of the amino acid substitution at this particular codon in the VHL protein.
23217559 HDAC1, LL-37 and VHL can modulate the production of VEGF via HIF-1alpha in HaCaT cells
23203444 Identification of a c.464T>A mutation of the VHL gene in three patients with hemangioblastoma from a Chinese family.
23159849 pVHL suppresses ER-alpha expression and transcriptional activity of ER-alpha through a direct interaction, and promotes the ubiquitin-mediated degradation of ER-alpha.
23151618 strong expression of pVHL in clear cells kidney carcinoma correlates with good disease prognosis.
23079206 This study demonstrates that the immunostaining profile of pVHL-/IMP3+/maspin+/S100P+ is useful in the distinction of adenocarcinoma of the gallbladder from normal/reactive conditions.
23074928 Gene VHL inactivation had no effect on prognosis of the disease and results of anti-angiogenic therapy.
23063455 Metabolic features of renal cancer are linked to VHL loss. VHL loss and the ensuing increase in the expression of hypoxia-inducible factor affect several metabolic pathways, including glycolysis and oxidative phosphorylation. [Review Article]
23011899 Using molecular dynamics simulations, we show that F76del mutation may enlarge the HIF binding pocket in pVHL and induce formation of an internal cavity in the hydrophobic core of the beta-domain, which can lead to a partial destabilization of the beta-sheets.
22946750 The genetic analysis in three unrelated patients with apparently sporadic pheochromocytomas allowed the discovery of a novel germline mutation of the VHL gene.
22931246 Treatment with bevacizumab resulted in a significant decrease of tumor size established from VHL null cells.
22906772 Patients with ocular von Hippel-Lindau disease maintain relative anatomic and functional stability, with only a minority demonstrating marked anatomic progression and vision loss.
22825683 Our data show that the biological consequences of VHL mutations are not necessarily predictable from the sequence change of the mutation
22806541 pVHL-dependent cell surface glycoproteins as potential diagnostic markers for therapeutic targeting and RCC patient monitoring.
22799452 Twenty-six VHL mutations were identified in 36 Danish families including one in-frame duplication, two frame-shift, four nonsense, twelve missense, three intronic mutations and four large genomic rearrangements. Three of these mutations were novel.
22714833 The VHL gene expression is increased in the implantation site of tubal pregnancy, and locally elevated expression of the VHL gene might be associated with human tubal pregnancy.
22673568 functions of VHL likely play important roles in the development of VHL disease
22673518 Knockdown of pVHL decreased phosphorylation of FAK and expression of integrin, suggesting that pVHL regulates lung cancer development via integrin/FAK signaling pathway
22649212 we demonstrated that downregulation of miR-23b suppressed tumor survival through targeting VHL
22642103 39.1% samples with stage I harbor somatic mutations in VHL gene, however, no association with progression or metastases was found
22585604 This study investigates whether there is a correlation of expression of S100P and von Hippel-Lindau gene product (pVHL) in common cystic neoplasms of the pancreas.
22532874 In summary, our results disclose a novel function of pVHL that mediates K63-linked ubiquitination and identify nuclear clusterin as a new target of pVHL.
22516261 VHL functions as a tumor-suppressing regulator of autophagic programs.
22462637 The fifth nucleotide G of the splice donor site of the VHL gene is important for the efficiency of splicing at that site, with a point mutation resulting in intron retention in transcripts.
22438210 VHL germline mutations represent a minor cause of non-syndromic non-syndromic pheochromocytoma or paraganglioma.
22393103 Case Report: even if they originate from mutations of the same gene, VHL disease and Chuvash polycythemia are two independent clinical entities in which different molecular pathways are probably involved.
22389506 suppression of pVHL in response to estrogen signaling results in elevation of KLF4, which mediates estrogen-induced mitogenic effect
22357542 De novo mutations in VHL gene may be relatively prevalent in Chinese VHL disease patients.
22351759 Runx2 stabilizes HIF-1alpha by binding to ODDD to block the interaction between von Hippel-Lindau protein and HIF-1alpha.
22286234 this study identifies a novel mechanism for pVHL-mediated negative regulation of c-Myc transcription.
22286099 Data show that the tumour suppressor protein LIMD1 acts as a molecular scaffold, simultaneously binding the PHDs and VHL, thereby assembling a PHD-LIMD1-VHL protein complex and creating an enzymatic niche that enables efficient degradation of HIF-1alpha.
22284679 VHL is a facilitating factor in colorectal tumorigenesis via the degradation of KLF4.
22270996 No mutations were found in VHL gene in cases of pheochromocytoma and abdominal paraganglioma in Western Sweden.
22234250 HP1 increases the chromatin association of VHL.
22156657 VHL-associated renal cell carcinoma show large variances in tumour growth behaviour.
22150821 Central and peripheral hemorrhages are responsible for the embryonic lethality in the homozygous von Hippel-Lindau protein knockout mice.
22125026 Inactivation of the VHL tumor suppressor gene is an early, causal event in the development of clear cell renal cell carcinomas and is common in both hereditary and nonhereditary forms [review]
22105711 This work presents computational studies analyzing the interaction of the hypoxia-inducible factor with mutant forms of pVHL, describing at atomic detail the local structural reorganization caused by substitution of certain residues of pVHL.
22086907 AUF1 and HuR bind to VEGFA ARE RNA under both normoxic and hypoxic conditions, and a pVHL-RNP complex determines VEGFA mRNA decay.
22084938 VHL single nucleotide polymorphism (rs779805) is associated with prostate cancer.
22071692 Checkpoint kinase-2 (Chk2) binds to the beta-domain of pVHL and phosphorylates Ser 111 on DNA damage.
22022277 Germline VHL SNPs and a haplotype were associated with promoter hypermethylation in tumor tissue. risk of having genetic VHL inactivation was inversely associated with smoking due to a higher proportion of wild-type ccRCC tumors
22020339 Study confirmed that JunB was upregulated in VHL-defective clear-cell renal-cell carcinoma (ccRCC) specimens by immunostaining. Short-hairpin RNA (shRNA)-mediated knockdown of JunB in 786-O and A498 VHL null ccRCC cells suppressed their invasiveness.
21993671 The age-adjusted mean +/- SE tricuspid regurgitation velocity was higher in VHL(R200W) homozygotes than controls with normal VHL alleles.
21972040 Evaluated the clinical characteristics of seven Chinese families suffering from VHL disease and determined the particular germline mutations in their VHL genes.
21962529 Data indicate that lack of VHL along with flanking loci in 50% conventional renal cell carcinoma (cRCC) including both groups I and II supported the hypothesis of both VHL dependent and VHL independent pathways in cRCC tumorigenesis.
21949687 Data show that Down-regulation of c-Cbl in VHL-deficient ccRCC cells revealed that the c-Cbl and pVHL collaborated to down-regulate the activated EGFR.
21942715 the ARF tumor suppressor interacts with VHL30, a longer VHL isoform, but not with VHL19, a shorter VHL isoform
21888897 These results indicate that KLHL20 is a novel player that regulates HIF-2alpha protein expression through mechanisms independent of hypoxia and pVHL.
21876117 serum hepcidin concentration was correlated positively with serum ferritin concentration and negatively with homozygosity for VHL(R200W)
21798997 mechanisms have evolved in tumors to escape growth suppressive signals resulting from VHL loss and REDD1 upregulation
21791076 Inactivation of the von Hippel-Lindau tumour suppressor gene induces Neuromedin U expression in renal cancer cells.
21778301 VHL and HIF1A polymorphisms may not influence renal cell carcinoma (RCC) susceptibility but may jointly influence RCC progression and survival.
21763962 Studies indicate that inactivation of the VHL tumor suppressor gene is a frequent event in clear-cell renal carcinoma.
21725364 Data show that von Hippel-Lindau (VHL) inactivation decreases H3K4Me3 levels through JARID1C, which alters gene expression and suppresses tumor growth.
21715564 majority of the thermodynamically destabilizing missense mutations were located in exon 1 in the core of pVHL, whereas protein surface mutations in exon 3 affected the interaction domains of elongin B and C
21685785 case report of heterozygous mutation c.313A>C and spinal hemangioblastoma
21642472 These results indicate that elevated expression of pVHL results in the aberrant fibronectin expression, activation of integrin/FAK signaling, fibroblast proliferation, and fibrosis.
21632985 Results suggest that a HIF-regulated VHL-PTP1B-Src signaling pathway determines the sensitivity of RCC to Src inhibitors.
21625219 results suggest a novel mechanism of regulation of the VHL tumor suppressor by TGase 2 that appears to be independent of the known cancer regulatory mechanisms
21606165 heterozygosity for VHL(R200W) may provide protection from anemia; such protection could explain the persistence of this mutation.
21602888 human endogenous retrovirus type E expression in clear cell subtype of renal cell carcinomas linearly correlated with HIF-2alpha levels and could be silenced in tumor cells by either transfection of normal VHL or small interfering RNA inhibition of HIF-2alpha
21556796 VHL loss is associated with poor overall survival for lung adenocarcinoma patients and may be used as prognostic marker
21547579 The impact of VHL genetic alterations on the expression of several pVHL protein targets in paired normal and tumor tissue, was evaluated.
21528828 Screening of patients and at-risk family members for VHL-associated tumors should be essential in management of VHL.
21493813 Conditional VHL knockdown may enhance the NO-VEGF axis and protect glomerular endothelial cells from Habu snake venom glomerulonephropathy, thereby providing resistance to injury of tubular epithelial cells and glomerular endothelial cells.
21463266 new gene variants predicted to truncate or cause complete VHL loss of structure were associated with phenotypes consistent with von Hippel-Lindau disease type 1
21436690 Loss of VHL is associated with endometrial hyperplasia and endometrial carcinoma.
21415706 elevated expression is associated with decreased overall survival in gallbladder cancer patients
21386872 The autosomal dominantly inherited disorder von Hippel-Lindau disease (VHL) is caused by germline mutations in the VHL tumour suppressor gene (TSG). (Review)
21362373 Genetic analysis could accurately confirm VHL syndrome in patients with isolated tumours such as sporadic phaeochromocytoma or epididymal papillary cystadenoma.
21358672 pVHL destabilizes the F-box protein Skp2
21299348 Report variable expression of VHL in different variants of renal cell carcinoma.
21258414 role of mutant VHL in susceptibility to natural killer (NK) cell-mediated lysis
21233420 established a molecular mechanism linking VHL loss to induction of the CDCP1 gene through the HIF-1/2 pathway in renal cancer
21204227 compared clinical and pathologic parameters of pheo between members of von Hippel-Lindau (VHL) type 2A Family 1 (Y112H mutation) and members of Family 2 (Y98H mutation); mutation-specific malignancy and expression patterns exist within VHL type 2A
21151099 The combined deregulation of the pVHL/HIF axis and PTEN alone appear to be important for multilocular cystic renal cell carcinoma development but not sufficient to drive metastatic processes.
21042786 EPO was detected in 87.8% of sCCRCC tumours versus 7.3% for normal tissues. EPO expression was related to tumours demonstrating VHL gene abnormalities.
20980436 a hypoxia-inducible factor (HIF)-related signature common to succinate dehydrogenase (SDH) and von Hippel-Lindau (VHL) tumors
20978319 VHL genetic alterations were identified in 43.5% (10/23) of clear cell renal cell carcinoma.
20978146 Elevated PHD1 concomitant with decreased PHD2 are causatively related to Rpb1 hydroxylation and oncogenesis in human renal clear cell carcinomas with WT VHL gene.
20973793 Inactivation of the von Hippel-Lindau tumor suppressor protein (pVHL) causes the most common form of kidney cancer.
20964835 VHL-dependent regulation of microRNAs in renal cancer were examined.
20952286 We detected mutation of VHL gene in clear cell renal cell carcinoma , but found no VHL gene mutation in clear cell papillary renal cell carcinoma.
20871634 Data indicate that RACK1 serves as a direct mediator between loss of pVHL function and enhanced IGF-IR signaling pathway in RCC.
20863722 Data indicate that VHL mutations were found in 52.1% of the whole paraffin samples whereas 98% were mutated.
20855504 These data establish pVHL as a near-optimal microtubule-stabilizing protein.
20844582 Ubiquitylation and SUMOylation contributes to VHL protein stability and nucleocytoplasmic shuttling.
20680678 Unable to identify methylation of any of the von Hippel-Lindau ubiquitin ligase complex genes in 84 breast carcinoma samples or in a range of cancer cell lines.
20651059 Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20637892 phosphorylation by protein kinase CK2 reduces protein stability and transcriptional activity of p53 and HIF-1alpha
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20599784 LW6, a novel HIF-1 inhibitor, promotes proteasomal degradation of HIF-1alpha via up-regulation of VHL in a colon cancer cell line.
20567917 Mutations in the VHL gene are associated with von Hippel-Lindau disease.
20560986 The predicted 14 amino acid extended mutant von Hippel-Lindau tumor suppressor protein variant was stable and retained the ability to downregulate hypoxia-inducible factor 1 alpha in a hydroxylation dependent manner
20453000 Observational study of gene-disease association. (HuGE Navigator)
20447124 Three different mutations are demonstrated in two families with von Hippel=Lindau disease.
20431476 renal cysts represent precursor lesions for clear cell renal cell carcinoma and arise from single renal tubular epithelial cells owing to von Hippel-Lindau gene deletion.
20382408 The findings of focal S100P and/or IMP3 expression with reciprocal loss of pVHL in a few benign biopsies suggest a use of these markers in the detection of early epithelial dysplasia.
20382342 The researchers found evidence that body mass index may be associated with various types of renal cell carcinoma within a range of von Hippel-Lindau gene mutations
20375333 The location of missense mutations in the VHL gene correlates significantly with the prevalence and phenotype of ocular disease, and as such, influences the risk of visual loss in affected patients
20300531 Knockdown of PIASy by small interfering RNA leads to reduction of VHL oligomerization and increases HIF1alpha degradation
20208144 Observational study of gene-disease association. (HuGE Navigator)
20205103 In patients with sporadic pheochromocytomas and paragangliomas, most frequent were mutations in RET proto-oncogene, followed by VHL gene, one mutation in SDHB, and one in SDHD genes.
20205103 Observational study of gene-disease association. (HuGE Navigator)
20185829 a unique regulation pattern for Ror2 in the VHL-HIF axis that has the potential to be applied to other cancer etiologies.
20145706 Authors suggest the possible role of nonsense-mediated mRNA decay on the regulation of VHL mutations.
20137853 Mutations in TP53, KRAS, or EGFR are not major contributors to the RCC development even in the absence of VHL inactivation.
20068166 VHL loss induces an EMT in renal cell carcinoma that is largely dependent on HIFalpha-induced NF-kappaB.
19940550 Studies explore the VHL-HIF-VEGF pathway that plays a fundamental role in the development of renal cancer.
19933033 Identification of somatic mutations in the von Hippel-Lindau (VHL) gene in a patient with renal cell carcinoma.
19915370 Its mutation accelerates the transcription of EPO gene by stabilizing HIF-alpha protein. (review)
19915015 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19906784 Observational study of gene-disease association. (HuGE Navigator)
19825962 Observational study of gene-disease association and genetic testing. (HuGE Navigator)
19814753 Von Hippel-Lindau disease anchored in germline mutations of the VHL gene is rare in the Norwegian population as opposed to clinical VHL disease, which appears to be relatively common in patients with apparently sporadic hemangioblastomas.
19808854 parasympathetic paragangliomas in Von Hippel-Landau(VHL) disease, although rare, are part of the syndrome and related to VHL gene inactivation.
19806577 Partial and complete VHL gene deletions were detected in Chinese with von Hippel-Lindau disease.
19801654 Von Hippel-Lindau gene product modulates TIS11B expression in renal cell carcinoma and has a role in vascular endothelial growth factor expression in hypoxia
19764026 Growing body of evidence suggesting that patients with VHL syndrome caused by large VHL deletions that include C3orf10 may be designated as having a specific subtype (Type 1B) of the disorder.
19759417 Study found no significant association between VHL mutation or methylation and angiogenesis/tumour parameters.
19690016 VHL inactivation is associated with the development of malignant sporadic pancreatic endocrine tumors.
19649731 VHL type 2 presenting with both pheochromocytoma and retinal angioma in this family found to be associated with the new missense mutation (c499 C>T) of VHL gene.
19629420 complex role of VHL in renal epithelial cells [REVIEW]
19620968 An association between VHL inactivation, reduced Mad2 levels and increased aneuploidy was also found in renal cancer cells, implying that pVHL probably contribute to tumour suppression.
19602254 VHL has both HIF-alpha dependent and HIF-alpha independent functions in regulating tight junctions and cell morphology
19584355 interaction of pVHL with beta(2)AR is dependent on proline hydroxylation (proline-382 and -395) and the dioxygenase EGLN3 interacts directly with the beta(2)AR to serve as an endogenous beta(2)AR prolyl hydroxylase.
19574279 The presence of VHL gene mutations in 3 out of the 37 patients with apparently sporadic unilateral pheochromocytomas (ASP) suggests that genetic testing is useful not only in patients with VHL disease but also in those with ASP.
19525194 Von Hippel-Lindau methylation has a role in multiple myeloma
19464396 Germ-line mutations in the VHL gene in Italian patients are reported.
19464396 Observational study of gene-disease association. (HuGE Navigator)
19464057 Observational study of gene-disease association. (HuGE Navigator)
19458911 Data show that lysosomes degrade hypoxia-inducible factor-1a, and they are one of the targets through which 15d-PGJ2 accumulates HIF-1a in HK-2 cells.
19419968 novel homeostatic control of keratinocyte proliferation and migration mediated via TAK1 regulation of von Hippel-Lindau tumor suppressor
19411751 VHL expression was significantly lower in lung cancer than in normal lung tissues.
19408298 Data find that renal cell carcinoma may arise because of the disruption of either HIF interactions or binding at the elongin B interface. Pheochromocytoma is triggered by mutations which disrupt interactions at the elongin C binding site.
19401348 Study concluded that in ccRCC, PAX2 reactivation is driven by HIF-dependent mechanisms following pVHL loss.
19399650 Multiple genetic alterations including mutations, polymorphisms and intronic variants are more frequently observed in malignant pheochromocytomas.
19399650 Observational study of gene-disease association. (HuGE Navigator)
19351817 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19343621 Observational study of gene-disease association. (HuGE Navigator)
19340311 Establishment of three different, cell-specific Vhl knockouts in the pancreas have allowed us to provide evidence suggesting that VHL is functionally important for postnatal ductal and exocrine pancreas
19336759 pVHL, without any genetic alteration, can be regulated by microRNA and explains the aberrant autocrine VEGF secretion in CLL.
19336503 Observational study of gene-disease association. (HuGE Navigator)
19305426 destabilization of BIM(EL) in the absence of pVHL contributes to the increased resistance of VHL-null renal cell carcinoma (RCC) cells to certain apoptotic stimuli.
19288063 individuals with mutated VHL are more likely to be affected by familial or recurrent sporadic hemangioblastoma when carrying the M/T or T/T genotype at codon 381 of vitronectin
19288063 Observational study of gene-disease association. (HuGE Navigator)
19280651 Deletions ranging from 0.5 kb to 250 kb affecting part of or the entire VHL and flanking genes were identified in 54 Von Hippel-Lindau disease families.
19258401 Observational study of gene-disease association. (HuGE Navigator)
19252526 Type 2B R167Q mutant pVhl produces a unique profile of HIF dysregulation, thereby promoting tissue-specific effects on cell growth, development and tumor predisposition.
19238077 Pancreatic endocrine microadenomatosis in patients with von Hippel-Lindau disease: characterization by VHL/HIF pathway proteins expression.
19228690 Data reveal unexpectedly strong structural defects of type 2C-associated pVHL mutant proteins that are likely to affect both HIF-1/2alpha-related and -unrelated pVHL functions in the pathogenesis of pheochromocytomas.
19223516 Observational study of gene-disease association. (HuGE Navigator)
19216840 potential role of VHL mutation as a prognostic and predictive marker for renal cell carcinoma [review]
19215943 Observational study of gene-disease association. (HuGE Navigator)
19208735 VHL mutations are associated with adrenal phaeochromocytomas.
19162062 Results identify novel VHL regulated genes using the RCC10 CCRCC cell line.
19159641 These data suggest that the effects of Egln1 knockdown depend on the status of pVHL and can be correlated with effects on Rpb1.
19158274 Activin B is a key mediator of VHL/HIF-induced transformation in renal cell carcinomas.
19145771 report of a family with hereditary head and neck paraganglioma with metastatic dissemination in the liver and the spine; evidence supports the absence of mutations in SDH, RET and VHL genes
19133167 This study indicate that the gene mutation is presented in all affected membane in to of three families and The CNS hemangioblastoma is the early manifestation in VHL disease.
19073886 VHL loss-of-function also has striking effects on the expression of the tight junction (TJ) components occludin and claudin 1 in vitro in VHL-defective clear cell renal cell carcinoma (CCRCC) cells and in vivo in VHL-defective sporadic CCRCCs.
19064569 A nonsignificant inverse association was observed between alcohol and renal cell cancer. No statistical significant heterogeneity by VHL mutation or methylation status.
19064569 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19062180 Observational study of gene-disease association. (HuGE Navigator)
19061835 HIF-alpha effects on c-Myc distinguish two subtypes of sporadic VHL-deficient clear cell renal carcinoma
19056930 Common mRNA-binding proteins regulated by the VHL/HIF system may constitute new therapeutic opportunities against human RCC that remains refractory to therapies.
19030229 subtypes of VHL mutations support an intermediate level of HIF-1alpha and HIF-2alpha regulation via a remnant VBC complex.
19029228 Observational study of gene-disease association. (HuGE Navigator)
19018165 Mxi1 is an important downstream target of HIF that contributes to pVHL-deficient renal cancer tumorigenesis
18998488 genetic variants of HIF1A (Hypoxia-inducible factor 1-alpha )and VHL(von Hippel-Lindau tumor suppressor protein) are not associated with acute mountain sickness symptoms that occur in Sherpas at extremely high altitudes
18998488 Observational study of gene-disease association. (HuGE Navigator)
18985005 Results suggest that STAT3 decreases the pVHL-mediated ubiquitination of HIF-1alpha through competition with pVHL for binding to HIF-1 alpha, and then stabilizes HIF-1alpha protein levels.
18950731 Loss of von Hippel-Lindau tumor suppressor gene function occurs in familial and most sporadic clear cell renal cell carcinoma, resulting in the aberrant expression of genes that control cell proliferation, metabolism, invasion and angiogenesis.
18836774 propose that the nonsynonymous SNP with a SNPid of rs5030812 is an important candidate for the cause of von Hippel-Lindau syndrome
18806787 The pVHL tumour suppressor and the Wnt tumorigenesis pathway are therefore directly linked through Jade-1.
18780286 E2-EPF UCP expression induced by growth factors or serum increased HIF-1alpha protein level under non-hypoxic conditions, suggesting that the Egr-1/SRF-UCP-VHL pathway is in part responsible for the increased HIF-1alpha protein level
18751980 The aim of this study was to identify gene expression signatures that correlate with specific VHL gene mutation types in RCC.
18751708 These complex pVHL functions can explain the diverse consequences of pVHL dysregulation in tumor formation and progression.
18694926 analysis of of degradation of HIF-1alpha at normoxia that involves pVHL but is not mediated by PHDs 1-3 or by degradation boxes surrounding Pro(402) and Pro(563)
18685280 The authors report the presence of a second missense G546T mutation in a patient with von Hippel-Lindau disease in Kuwait.
18676741 analysis of von Hippel-Lindau gene alterations in clear cell renal tumors
18635227 There was no statistically significant increase in response to vascular endothelial growth factor targeted agents with VHL inactivation.
18607865 Genetic and epigenetic alterations of the VHL gene may be not involved in the development or progression of gastric cancers
18559510 partial loss of function of VHL in endothelium may be a contributing factor in tumor angiogenesis through a HIF-VEGF-independent mechanism
18551016 Observational study of gene-disease association. (HuGE Navigator)
18517280 a role for FHIT (in addition to VHL) in renal tumorigenesis.
18474617 VHL mutation alone is insufficient for tumor formation; study shows that epididymal cystadenomas from VHL patients frequently also lack expression of the PTEN tumor suppressor and display activation of phosphatidylinositol 3-kinase pathway signaling.
18446368 Spectrum of VHL germline mutations in a Chinese population is similar to that observed in Western population, and genetic testing can be powerful in diagnosis and clinical management of von Hippel Lindau disease.
18426857 Nitric oxide donor, (+/-)-S-nitroso-N-acetylpenicillamine, stabilizes transactive HIF1-alpha by inhibiting VHL and asparagine hydroxylation.
18424433 COP9/signalosome increases the efficiency of von Hippel-Lindau protein ubiquitin ligase-mediated hypoxia-inducible factor-alpha ubiquitination
18423895 Report two cases of endolymphatic sac tumor (aggressive papillary tumor of middle ear and temporal bone)with analysis of the VHL gene.
18416845 study reports a large Hungarian VHL type 2 family consisting of 32 members in whom a disease-causing AGT80AAT (Ser80Ile) c.239G>A, p.Ser80Ile mutation, but not the concurrent CCT25CTT (Pro25Leu) c.74C>T, p.Pro25Leu variant co-segregated with the disease
18408496 Establishing correlations between the genotype of the von Hippel-Lindau mutation and the phenotype of eye disease may inform us as to how ocular von Hippel-Lindau disease arises, and help guide molecular interventions in ocular von Hippel-Lindau disease.
18389622 Inactivation of the VHL gene in sporadic clear cell renal cancer
18359287 VHL controls gene expression of TGFBI (BIGH3) and its transactivator KLF10 in renal clear cell carcinoma and other tumors.
18285459 through this novel pathway involving P1465 hydroxylation and Ser5 phosphorylation of Rbp1, pVHL may regulate tumor growth
18245539 (Epi)genetic alterations in the VHL gene do not have prognostic value in renal cancer prognosis.
18223282 Among VHL598C>T homozygotes, homocysteine was elevated with low and normal folate concentrations, consistent with a possible defect in the remethylation pathway
18212329 Increased expression of CTGF and CYR61 proteins correlatets with the loss of VHL protein expression in renal cell carcinoma.
18162774 S100P and pVHL are a pair of sensitive and specific markers for identifying primary pancreatic ductal adenocarcinoma and pancreatic intraepithelial neoplasia
18094722 DNA methylation of the von Hippel-Lindau gene is associated with acute myeloid leukaemia and myelodysplastic syndromes
18085246 study's findings demonstrate that the VHL-HIF signalling pathway, which is so central to intracellular oxygen sensing, also regulates the organ systems upon which cellular oxygen delivery ultimately depends
18079682 Clusterin shows possible important functions in tumor suppression by the von Hippel-Lindau disease (VHL) gene product. May provide better understanding of retinal hemangioblastoma associated with VHL disease.
18073334 pVHL participates in the hypoxia-mediated degradation of plasma membrane Na-K-ATPase in a HIF-independent manner.
18072267 A wide range of deletions in 3p, including at the VHL gene, may play a role in the development of tongue cancer.
17998064 This publication focuses on studies published over the past 2 years related to pVHL.
17997830 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
17967880 identify a novel nuclear export motif, further highlight the role of nuclear-cytoplasmic shuttling of E3 ligases in degradation of nuclear substrates, and provide evidence that disease-causing mutations can target subcellular trafficking
17954272 Two cancer-free dysmorphic patients with karyotypes that confer susceptibility to familial Adenomatous polyposis and von-Hippel-Lindau syndrome.
17936701 Data show that pVHL acts as an adaptor to promote the inhibitory phosphorylation of the NF-kappaB agonist Card9 by casein kinase 2.
17919893 in Renal cell Carcinoma patients 22 vhl gene mutations were detected: changes in protein functional domains in conserved regions; 72.7% were considered capable of compromising the VHL protein suppressor function
17912253 ciliary assembly and mechanotransduction is rapidly restored in VHL-/- cells upon ectopic reconstitution of wild-type - but not variant alleles of - VHL
17906660 there is an aberrant nuclear localization of E-cadherin in CC-RCC harboring VHL mutations, suggesting potential prognostic value of VHL and E-cadherin in CC-RCC.
17898043 Invasion through Matrigel and migration in wound-healing assays are significantly greater in VHL mutant renal cell carcinoma compared with wild-type cells
17846357 Ours may be the first report of retinal hemangioblastoma unassociated with a VHL mutation.
17825299 microtubule-dependent functions of pVHL are influenced by kinesin-2
17786294 VHL exerts inhibitory effects on the invasive and migratory capacity of breast cancer cells in vitro.
17696210 An elevated number of circulating endothelial progenitor cells is related to high erythropoietin production in renal cell carcinoma with novel double somatic mutations of the VHL gene.
17688370 Alterations in this hydrophobic region of the core beta domain of the VHL protein have a variety of phenotypic consequences, and there also variations in severity of von Hippel Lindau disease.
17680521 The novel VHL gene mutation detected in the kindred may be the causative gene of nonsyndromic pheochromocytoma.
17661816 Observational study of genotype prevalence. (HuGE Navigator)
17661816 study found frequency of germline VHL mutations was very high in classic VHL cases, lower in non-classic cases that have limited VHL manifestations or single-organ involvement & low in cases not meeting current diagnostic VHL criteria
17639058 Observational study of genotype prevalence. (HuGE Navigator)
17568584 HIF-1alpha stabilization correlates with down-regulation of the tumour suppressor von Hippel-Lindau protein (pVHL.
17555795 although LOH at the VHL gene locus was frequent in ovarian carcinomas, there is no significant correlation between LOH & loss of VHL expression; in 22 clear cell carcinomas, VHL expression showed negative correlation with nuclear expression of HIF-1alpha
17526729 Quantitative differences with respect to HIF deregulation are sufficient to account for the differential risks of kidney cancer linked to VHL mutations.
17486080 VHL inactivation leads to IGF1R upregulation, contributing to renal tumorigenesis and potentially also to chemoresistance.
17450132 pVHL and GSK3beta function together in a ciliary-maintenance signalling network, disruption of which enhances the vulnerability of cells to lose their cilia, thereby promoting cyst formation.
17438007 VHL tumour-suppressor gene mutation is involved in clear cell carcinoma in association with long-term dialysis. Mutation of VHL gene was not found in any dialysis-specific renal cell carcinomas studied herein.
17407064 The germ line mutations in Chinese kindreds with von Hippel-Lindau syndrome consisted of 4 missense mutations, 1 nonsense mutation and 1 deletion, of which 4 mutations existed in exon 1, 1 in exon 2 and 1 in exon 3.
17296901 Observational study of gene-disease association. (HuGE Navigator)
17296901 The VHL mutation genotype may be used to predict the prevalence and outcome of ocular VHL disease and to guide ophthalmic follow-up.
17264095 Observational study of genotype prevalence. (HuGE Navigator)
17255293 von Hippel-Lindau tumor suppressor protein has a role in clear cell renal carcinoma
17245122 This review highlights recent evidence uncovering the transcriptional regulation of E-cadherin, a cell adhesion molecule with anti-invasive properties in epithelial-derived cancers, via the von Hippel-Lindau (VHL)-hypoxia-inducible factor (HIF) pathway.
17200123 VHL protein exerts its tumor suppressor action, at least partially, via inhibition of p22phox-based Nox4/Nox1 NADPH oxidase-dependent reactive oxygen species generation
17102080 Observational study of genotype prevalence. (HuGE Navigator)
17101696 von Hippel-Lindau (VHL) protein (pVHL) is a ciliary protein that controls ciliogenesis in kidney cells.
17069461 In transfected cells and KSHV-infected B lymphoma cells, KSHV-encoded latency-associated nuclear antigen (LANA) expression stimulates degradation of tumor suppressors von Hippel-Lindau and p53.
17060462 VHL promotes E2 box-dependent E-cadherin transcription by HIF-mediated regulation of SIP1 and snail
17006605 analysis of two sequence variants of the VHL gene
16983094 Reconstitution of VHL expression in renal cell carcinoma (RCC) cells repressed hepatocyte growth factor (HGF)-stimulated beta-catenin tyrosyl phosphorylation, cytoplasmic beta-catenin accumulation, and reporter gene transactivation.
16951198 Treatment of the VHL-deficient a human renal tumor cell line with the hydroxamic HDAC inhibitor LAQ824 resulted in an dependent of HIF-1 alpha protein via a VHL-independent mechanism and reduction of HIF-1 alpha transcriptional activity
16892044 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
16884327 P25L is a benign variant of the VHL protein in von Hippel-Lindau (VHL) disease.
16856496 Mnk2 can interact with CBC(VHL) complex, and is probably one of the new substrates of the CBC(VHL) complex.
16849532 Ectopic expression of VHL in RCC(VHL-) cells induced increased polarization and primary cilium formation.
16769276 Observational study of genotype prevalence. (HuGE Navigator)
16768548 A hypomorphic VHL allele causes a generalised abnormality in VHL-HIF signalling. VHL plays a major role in the calibration & homeostasis of the respiratory & cardiovascular systems, most likely through its central role in the regulation of HIF.
16707008 somatic VHL gene alterations may not play a major role in tumorigenesis of MEN2A-associated medullary thyroid carcinoma
16678111 These results suggest that the tumor suppressor pVHL has an unexpected function to upregulate the tumor suppressor p53.
16669786 pVHL does not directly promote the degradation of PKCd nor does it inhibit catalytic activity in cells, indicating that distinctive signalling role(s) for the cellular complex characterize this interaction
16506218 Although no evidence for a classic tumor suppressor role for VHL in NB could be obtained, a strong correlation was observed between reduced levels of VHL mRNA and low patient survival probability.
16407835 VHL forms a self-associated complex in vivo. Coexpression of 2 VHL missense mutants (1 in the alpha domain & the other in the beta domain)restores HIF-mediated gene expression. VHL homotypic complexes target HIFalpha for ubiquitin-mediated proteolysis.
16314641 Germline mutation on the VHL gene was present in patients with pheochromocytoma or functional paraganglioma.
16278378 in pancreatic cancer cells, the p38-mediated phosphorylation of HIF-1alpha contributed to the inhibition of HIF-1alpha and von Hippel-Lindau tumor suppressor protein interaction during ischemia
16261165 type 2A but not type 2B mutant VHL proteins retained significant ubiquitin ligase activity towards HIF-1alpha in vitro
16210343 Mutation IN Von Hippel Lindau tumor suppressor is associated with polycythemia
16208141 Observational study of gene-disease association. (HuGE Navigator)
16170373 the association of the elongin-binding domain of the tumor suppressor protein vin Hippel Landau (VHL) with a specific RNA-binding domain of HuR (RRM1) is important for the destabilizing function of VHL on VPF/VEGF mRNA
16144691 Review of overall findings demonstrates the essential role of the hypoxia/VHL/hypoxia-inducible factor-1 alpha pathway in endochondral bone development.
16142346 analysis of Von Hippel-Lindau mutations in Korean patients with von Hippel-Lindau disease, pheochromocytomas and paragangliomas
16107702 VHL loss drives NF-kappaB activation by resulting in hypoxia-inducible factor alpha accumulation
15998523 Expression of p53 in renal carcinoma cells is independent of VHL.
15985433 von Hippel Lindau tumor suppressor has a role in iron homeostasis in renal carcinoma cells
15962286 pVHL itself is induced in prolonged hypoxia in a kinetic that parallels the observed downregulation of hypoxia-inducible factor 1, alpha protein under such conditions
15932632 Observational study of genotype prevalence. (HuGE Navigator)
15932632 Hippel-Lindau gene mutations may have a role in sporadic renal cell carcinoma
15921386 A new heterozygous VHL gene mutation (430G->A;Gly144Arg)ws found in a man with polycythemia and high erythropoietin levels.
15893810 Loss of expression of von Hippel-Lindau tumor suppressor protein associated with improved survival in patients with early-stage clear cell renal cell carcinoma
15849821 The interplay between the functional pVHL and carbonic anhydrase IX/CA XII in colorectal tumors seems rather complex and is not evident merely at the expression levels.
15824735 mechanisms of VHL tumour suppressor function and novel hypoxia-responsive genes that might be implicated in tumorigenesis in both VHL disease and in other cancers
15824109 phosphorylation of the acidic domain of VHL plays a role in the regulation of proper fibronectin matrix deposition and may be relevant for the development of VHL-associated malignancies
15809750 Therapeutic and prognostic implication of somatic VHL alteration in renal cell carcinoma may be different according to the mutational subtype and the Pro582Ser change in HIF-1alpha may contribute to the development of metastases.
15805242 Tid-1(L) may play a critical role in pVHL-mediated tumor suppression by modulating the pVHL-dependent HIF-1alpha stability.
15777842 IRP2 degradation involving 2-oxoglutarate-dependent oxygenase does not require the E3 ubiquitin ligase activity of pVHL
15750626 von Hippel-Lindau tumour suppressor protein regulates HIF-1alpha and its oxygen-regulated transactivation domains at high cell density.
15696489 loss of heterozygosity of VHL gene is an important genetic event in Chinese sporadic renal carcinoma, and the LOH frequency is 41.4%. VHL LOH has no influence on stage and grade of RCC.
15611064 specific association between pVHL and the hydroxylated HIF-alpha requires both the L1 and L7 loops to coordinate dynamic coupling among distant pVHL regions
15608669 Renal cell carcinoma patients who express VHL are likely to respond to bortezomib.
15607616 A DNA sequence analysis of vhl tumor suppressor gene revealed the L163R mutation. This new mutation may be specifically associated with the von Hippel-Lindau type 2C disease phenotype.
15604095 presence of wild-type VHL protein (pVHL) increased mitochondrial DNA and respiratory chain protein contents and permitted the cells to rely on their mitochondrial ATP production to grow in the absence of glucose
15530850 directly measured VHL-induced subcellular changes in microtubule dynamics; induction of VHL in cells resulted in a decrease of tubulin turnover at the cell periphery, while minimally influencing microtubule dynamics around the centrosome
15467305 To determine the germline mutation in an extended family in which 1 member was diagnosed clinically with von Hippel-Lindau (VHL) disease and to investigate 3 generations of the family.The mutation was identified as IVS1 + 1 G-->T
15448019 VHL appears to be a critical gatekeeper with respect to the development of renal cell carcinoma. (Review)
15300849 The incidence of renal involvement & renal cell carcinoma was greater in VHL families with truncating mutations or large rearrangement, vs missense changes. 2 mutation cluster regions associated with renal lesions & RCC: codons 74-90 & codons 130-136.
15162797 VHL appears to regulate the stability of other proteins that might be involved in various steps of oncogenic processes (review)
15122713 In VHL disease, inactivation of the VHL wild-type allele appears necessary, but not sufficient, for the formation of tumor that produces symptoms and neurological disability.
14985465 deregulation of hypoxia-inducible genes in VHL-/- cells can be attributed mainly to deregulation of HIF and validate HIF as a therapeutic anticancer drug target
14963040 von Hippel-Lindau tumor suppressor protein is a molten globule under native conditions
14767570 We identified a missense mutation of VHL gene, 695 G --> A (R161Q), in a Japanese kindred with type 2A VHL syndrome. We analysed 16 members of this family and detected the same mutation in 8 individuals.
14726398 Observational study of gene-disease association. (HuGE Navigator)
14726398 study of the phenotype of VHL 598C>T homozygosity reveals that Chuvash polycythemia is a distinct VHL syndrome manifested by thrombosis, vascular abnormalities, and intact hypoxic regulation despite increased basal expression of hypoxia-regulated genes
14722919 In Von Hippel-Lindau disease the association of clear cell renal carcinoma development with a relatively high loss of structural stability in pVHL missense-mutants was consistent.
14691554 HIF2alpha has a role in regulating pVHL-defective tumor growth
14636579 Data show that chaperonin TRiC binding is specified by two short hydrophobic beta strands in the von Hippel-Lindau protein that, upon folding, become buried within the native structure.
14604959 Observational study of genotype prevalence. (HuGE Navigator)
14556007 contribution of tat-binding protein-1 to E3 ubiquitin ligase function
14531799 role of VHL protein level and intracellular localization in renal tumorigenesis in humans.
14517280 pVHL has a role in elevating p53 expression
14506252 role in regulating transcription of HIF-proline hydroxylase genes in response to low oxygen
13679920 The von Hippel-Lindau tumour suppressor protein pVHL negatively regulates CXCR4 expression owing to its capacity to target hypoxia-inducible factor (HIF) for degradation under normoxic conditions
12937142 Nuclear and cytoplasmic pVHL expression was associated with low histological grade, early tumor stage, and better prognosis. Alteration of subcellular pVHL trafficking is of potential relevance for biological behavior of clear-cell renal-cell carcinoma.
12912922 hsRB7 is identified as a subunit of RNA polymerase II and a target of VHL.
12844285 report seven additional congenital polycythemic patients with VHL mutations in both alleles
12839965 Promoter hypermethylation of this gene is demonstrated in esophageal squamous cell carcinoma.
12821933 the subcellular localization of VHL plays a role in its tumor suppressor properties
12810083 Data show that hypoxia-inducible factor 1 alpha was stabilized in the von Hippel-Lindau gene product-deficient cell line 786-0 treated with a proteasome inhibitor or cobalt ion.
12781449 role for VHL mutations promoting conventional clear cell renal cell carcinoma development by an impairment of HIF-1alpha proteolysis
12767066 Downregulation of Cap43 gene by von Hippel-Lindau protein in renal cancer cells.
12743597 Loss of this protein causes cell density dependent deregulation of CyclinD1 expression through hypoxia-inducible factor.
12697815 We conclude that, in vivo, folding of VHL requires the cooperation of Hsp70 and TRiC and that Hsp70 acts to promote substrate binding to TRiC.
12692265 To better understand the role of VHL in the hypoxia signaling pathways of tumor cells, we used serial analysis of gene expression (SAGE) to investigate hypoxia-regulated gene expression in renal carcinoma cells (786-0), with and without VHL
12684640 Methylation inactivation of vhl is associated with oral cancer
12682336 Germline mutation of the VHL gene and loss of heterozygosity on the VHL gene locus in 3p were detected in a meningioma in VHL disease associated with multiple cerebellar hemangioblastomas
12682018 demonstrate that the KRAB-A domain in VHLaK mediates pVHL binding and functions as a transcriptional repression module; findings provide a novel mechanism for the modulation of hypoxia-inducible factor-1alpha (HIF-1alpha) transactivation by pVHL
12673678 Mutations in Von Hippel-Lindau gene product are associated with malignant transformation of pheochromocytomas
12640117 TNF-alpha mRNA was a target of translational repression by pVHL through the TNF-alpha 3'-untranslated region in renal cell carcinoma cells
12609565 mutation not a common means of VHL inactivation in non-small-cell lung cancer
12538644 identification of complex with E3 ligase as target of splice variants of HIF-3 alpha locus
12511881 models for function of this protein and Hippel-Lindau disease
12510195 role for pVHL in the regulation of microtubule dynamics and potentially provide a link between this function of pVHL and the pathogenesis of haemangioblastoma and phaeochromocytoma in the context of VHL disease
12490973 BRCA1 AND VHL LOH is infrequent in sporadic breast carcinoma.
12482756 HIF-1 binds to VHL in a specific binding site
12468553 VHL regulates protein stability and the transactivation function of the hypoxia-inducible factor-1alpha
12460920 Von Hippel-Lindau tumor suppressor protein transforms human neuroblastoma cells into functional neuron-like cells.
12414898 P81S germline mutation in a German Von Hippel-Lindau disease type 2C family with the previously identified L188V mutation; co-segregation of these two mutations with the disease
12393546 propose that mutations of the VHL gene represent an important cause of pediatric sporadic polycythemias with an inappropriately high serum erythropoietin concentration
12378530 Direct sequencing analyses revealed that the tumors exhibited frameshift mutations and in some cases loss of heterozygosity at the VHL gene locus.
12374282 Review. The von Hippel-Lindau tumor suppressor protein regulates hypoxia-inducible gene transcription. It is a subunit of an E3 ubiquitin ligase targeting HIFalpha subunits.
12351678 The binding of pVHL to HIF is governed by the enzymatic hydroxylation of conserved prolyl residues within peptidic motifs present in the HIFalpha family members.
12209156 REVIEW: Molecular basis of the VHL hereditary cancer syndrome
12169691 VHL protein has a role in protein stabilization in human kidney
12114495 Deletions of the entire VHL gene have occurred in von Hippel-Lindau syndrome patients from Poland.
12114475 Functional analysis of the VHL tumor suppressor gene promoter sheds light on the developmental regulation of VHL expression, molecular pathology of epigenetic silencing of VHL in tumorigenesis, and suggests a link between Sp1, VHL, and nephrogenesis.
12097293 Identification of cyclin D1 and other novel targets for the von Hippel-Lindau tumor suppressor gene by expression array analysis and investigation of cyclin D1 genotype as a modifier in von Hippel-Lindau disease.
12086860 Down regulation of HIF-1 by VHL protein is associated with tumorigenesis of clear cell carcinoma of the kidney
12050673 crystal structure and basis for the recognition of hydroxyproline in HIF-1 alpha by pVHL
12048197 molecular basis for stabilization by components of VHL ubiquitin ligase
12036906 VHL-mediated hypoxia regulation of cyclin D1 in renal carcinoma cells.
12016154 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
12016154 mutation in renal cell carcinoma
12004076 structure of an HIF-1alpha-pVHL complex determined; role of hydroxyproline
12000816 Observational study of genotype prevalence. (HuGE Navigator)
11990703 A novel point mutation in the VHL gene (406 T-->G) was found in a patient with multiple recurrent chromaffin paragangliomas.
11987242 The Chuvash polycythemia gene is identified as the VHL gene with a point mutation that disrupts VHL function, causing a failure to degrade HIF-1 alpha and upregulation of downstream target genes such as EPO.
11921283 Inactivation of the VHL tumor suppressor gene is a genetic change in the tumorigenic pathway of clear-cell renal cell carcinoma and may occur at an early or first step in the tumorigenic pathway rather than as a late event.
11908068 Role in regulation of cell growth.
11865075 Erythropoietin, tumours and the von Hippel-Lindau gene: towards identification of mechanisms and dysfunction of oxygen sensing.
11840338 VHL-dependent sensitization of RCC cells to TNF-alpha-mediated killing may contribute to VHL's growth-suppressive function
11749004 Expression of the von Hippel-Lindau gene protein in breast cancer tissue.

AA Sequence

MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPRPVLRSVNSRE      1 - 70
PSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFRDAGTHDGLLVNQTELFVPSL     71 - 140
NVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDIVRSLYEDLEDHPNVQKDLERLTQERIAHQR    141 - 210
MGD                                                                       211 - 213
//

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26647960 2016 Hepatitis B virus induces hypoxia-inducible factor-2? expression through hepatitis B virus X protein.
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26296657 2015 pVHL interacts with Ceramide kinase like (CERKL) protein and ubiquitinates it for oxygen dependent proteasomal degradation.
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26211615 2015 Isoform-specific interactions of the von Hippel-Lindau tumor suppressor protein.
26191297 2015 Renal cell carcinoma risk is associated with the interactions of APOE, VHL and MTHFR gene polymorphisms.
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25966224 2015 A novel mutation links to von Hippel-Lindau syndrome in a Chinese family with hemangioblastoma.
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25750939 2015 Hsa-miR-331-3p inhibits VHL expression by directly targeting its mRNA 3'-UTR in HCC cell lines.
25749518 2015 ZBRK1, a novel tumor suppressor, activates VHL gene transcription through formation of a complex with VHL and p300 in renal cancer.
25732088 2015 VHL negatively regulates SARS coronavirus replication by modulating nsp16 ubiquitination and stability.
25683602 2015 Association of urinary bladder paragangliomas with germline mutations in the SDHB and VHL genes.
25661653 2015 Insights into Cullin-RING E3 ubiquitin ligase recruitment: structure of the VHL-EloBC-Cul2 complex.
25589003 2014 Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
25557216 2015 Metastatic phaeochromocytoma in a 23-year-old woman with an unclassified variant in the von Hippel Lindau disease gene: how can the pathogenicity of this variant be determined?
25531723 2014 Management of von hippel-lindau disease: an interdisciplinary review.
25501229 2014 Identification of a novel duplication mutation in the VHL gene in a large Chinese family with Von Hippel-Lindau (VHL) syndrome.
25500545 2015 RSUME inhibits VHL and regulates its tumor suppressor function.
25499220 2014 Elevated estrogen receptor-? in VHL-deficient condition induces microtubule organizing center amplification via disruption of BRCA1/Rad51 interaction.
25490036 2014 Low VHL mRNA expression is associated with more aggressive tumor features of papillary thyroid carcinoma.
25451921 2015 The tumor suppressor pVHL down-regulates never-in-mitosis A-related kinase 8 via hypoxia-inducible factors to maintain cilia in human renal cancer cells.
25416956 2014 A proteome-scale map of the human interactome network.
25338163 2014 Role of compartmentalization on HiF-1? degradation dynamics during changing oxygen conditions: a computational approach.
25313256 2015 ?-catenin links von Hippel-Lindau to aurora kinase A and loss of primary cilia in renal cell carcinoma.
25217002 2014 Two single nucleotide polymorphisms in the von Hippel-Lindau tumor suppressor gene in Taiwanese with renal cell carcinoma.
25078357 2014 Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.
25069792 2015 Von Hippel-Lindau disease type 2 in a Chinese family with a VHL p.W88X truncation.
25027579 2014 Mutational status of VHL gene and its clinical importance in renal clear cell carcinoma.
24998140 2014 Loss of VHL expression contributes to epithelial-mesenchymal transition in oral squamous cell carcinoma.
24977658 2015 Mutations seen among patients with pheochromocytoma and paraganglioma at a referral center from India.
24915993 2015 Interaction between Nm23 and the tumor suppressor VHL.
24899725 2014 Regulation of the VHL/HIF-1 pathway by DJ-1.
24727139 Unique molecular alteration patterns in von Hippel-Lindau (VHL) gene in a cohort of sporadic renal cell carcinoma patients from Pakistan.
24715760 2014 ?ypoxia-inducible factor-1?, von Hippel-Lindau protein, and heat shock protein expression in ophthalmic pterygium and normal conjunctiva.
24704013 2014 von Hippel-Lindau exonic methylation analysis using MALDI-TOF mass spectrometry.
24678776 2014 De novo VHL germline mutation detected in a patient with mild clinical phenotype of von Hippel-Lindau disease.
24650032 2014 MicroRNA-566 activates EGFR signaling and its inhibition sensitizes glioblastoma cells to nimotuzumab.
24583008 2014 The multifaceted von Hippel-Lindau tumour suppressor protein.
24581539 2014 Higher prevalence of novel mutations in VHL gene in Chinese Von Hippel-Lindau disease patients.
24550497 2014 Chromosome 3p loss of heterozygosity is associated with a unique metabolic network in clear cell renal carcinoma.
24549640 2014 Von Hippel-Lindau gene expression in human endometrium during menstrual cycle.
24469044 2015 The von Hippel-Lindau tumor suppressor regulates programmed cell death 5-mediated degradation of Mdm2.
24446253 2014 VHL and HIF-1?: gene variations and prognosis in early-stage clear cell renal cell carcinoma.
24422631 2014 The von hippel-lindau protein suppresses androgen receptor activity.
24394472 2014 VHL-deficient vasculogenesis in hemangioblastoma.
24359042 2014 DNA sequencing identifies mutation of the von Hippel-Lindau gene in tubal pregnancy.
24344197 2014 The apoptosis repressor with a CARD domain (ARC) gene is a direct hypoxia-inducible factor 1 target gene and promotes survival and proliferation of VHL-deficient renal cancer cells.
24335534 2014 Molecular dissection of the VHL gene in solitary capillary hemangioblastoma of the central nervous system.
24288256 2014 Commonality and differences of methylation signatures in the plasma of patients with pancreatic cancer and colorectal cancer.
24166983 2014 Clinical and pathological impact of VHL, PBRM1, BAP1, SETD2, KDM6A, and JARID1c in clear cell renal cell carcinoma.
24149212 2013 Recurrent patterns of DNA methylation in the ZNF154, CASP8, and VHL promoters across a wide spectrum of human solid epithelial tumors and cancer cell lines.
24149047 2013 The VHL gene is epigenetically inactivated in pheochromocytomas and abdominal paragangliomas.
24112038 2014 pVHL acts as a downstream target of E2F1 to suppress E2F1 activity.
24067370 2013 Loss of VHL promotes progerin expression, leading to impaired p14/ARF function and suppression of p53 activity.
24029645 2014 Radiogenomics of clear cell renal cell carcinoma: associations between CT imaging features and mutations.
24002598 2013 PIAS4 is an activator of hypoxia signalling via VHL suppression during growth of pancreatic cancer cells.
23990666 2013 Pleiotropic effects of the trichloroethylene-associated P81S VHL mutation on metabolism, apoptosis, and ATM-mediated DNA damage response.
23961993 2013 Regulation of the transcriptional activation of the androgen receptor by the UXT-binding protein VHL.
23902947 2013 Identification of somatic VHL gene mutations in sporadic head and neck paragangliomas in association with activation of the HIF-1?/miR-210 signaling pathway.
23881929 2013 The role of aberrant VHL/HIF pathway elements in predicting clinical outcome to pazopanib therapy in patients with metastatic clear-cell renal cell carcinoma.
23872148 2013 Hypoxia mediated expression of stem cell markers in VHL-associated hemangioblastomas.
23842656 2013 p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees.
23840444 2013 Structural insights into the folding defects of oncogenic pVHL lead to correction of its function in vitro.
23785518 2013 Identification of pVHL as a novel substrate for Aurora-A in clear cell renal cell carcinoma (ccRCC).
23730213 2013 ERK5/BMK1 is a novel target of the tumor suppressor VHL: implication in clear cell renal carcinoma.
23673869 2014 Clinical presentation of Von Hippel Lindau syndrome type 2B associated with VHL p.A149S mutation in a large Turkish family.
23626751 2013 P.Arg82Leu von Hippel-Lindau (VHL) gene mutation among three members of a family with familial bilateral pheochromocytoma in India: molecular analysis and in silico characterization.
23612971 2013 The von Hippel-Lindau protein pVHL inhibits ribosome biogenesis and protein synthesis.
23611775 2013 Hypoxia-inducible factor 1? mediates the down-regulation of superoxide dismutase 2 in von Hippel-Lindau deficient renal clear cell carcinoma.
23601303 2013 [Advances of hypoxia and lung cancer].
23558940 2013 VHL gene alterations in Italian patients with isolated renal cell carcinomas.
23481210 2013 Genetics of pheochromocytoma and paraganglioma syndromes: new advances and future treatment options.
23473032 2013 In vivo HIF-mediated reductive carboxylation is regulated by citrate levels and sensitizes VHL-deficient cells to glutamine deprivation.
23455924 2013 A Y2H-seq approach defines the human protein methyltransferase interactome.
23455319 2014 K63-ubiquitylation of VHL by SOCS1 mediates DNA double-strand break repair.
23434161 2013 Sequence variations in the von Hippel-Lindau tumor suppressor gene in patients with intracranial aneurysms.
23407919 2013 Mutation screening in a Norwegian cohort with pheochromocytoma.
23403324 2013 The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W).
23395608 2013 Tumor suppressor protein VHL inhibits Hedgehog-Gli activation through suppression of Gli1 nuclear localization.
23393199 2013 Hyperactivated JNK is a therapeutic target in pVHL-deficient renal cell carcinoma.
23387829 2013 TCTP increases stability of hypoxia-inducible factor 1? by interaction with and degradation of the tumour suppressor VHL.
23338840 2013 The VHL tumor suppressor protein regulates tumorigenicity of U87-derived glioma stem-like cells by inhibiting the JAK/STAT signaling pathway.
23318261 2013 Proteostasis modulators prolong missense VHL protein activity and halt tumor progression.
23315288 2013 ROS-mediated activation of AKT induces apoptosis via pVHL in prostate cancer cells.
23298237 2013 Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma.
23255108 2013 Nek1 phosphorylates Von Hippel-Lindau tumor suppressor to promote its proteasomal degradation and ciliary destabilization.
23224817 2013 A novel missense mutation (N78D) in a family with von Hippel-Lindau disease with central nervous system haemangioblastomas, pancreatic and renal cysts.
23217559 2012 Vascular endothelial growth factor production is induced by histone deacetylase 1 and suppressed by von Hippel-Lindau protein in HaCaT cells.
23203444 2013 A c.464T>a mutation in VHL gene in a Chinese family with VHL syndrome.
23159849 2012 Estrogen receptor ? is a novel target of the Von Hippel-Lindau protein and is responsible for the proliferation of VHL-deficient cells under hypoxic conditions.
23151618 2012 Aurora A overexpression and pVHL reduced expression are correlated with a bad kidney cancer prognosis.
23079206 2013 Diagnostic utility of von Hippel-Lindau gene product, maspin, IMP3, and S100P in adenocarcinoma of the gallbladder.
23074928 [Alteration of VHL gene in patients with metastatic renal cell carcinoma].
23063455 2013 Metabolism of kidney cancer: from the lab to clinical practice.
23011899 2013 Simulation of the mutation F76del on the von Hippel-Lindau tumor suppressor protein: mechanism of the disease and implications for drug development.
22946750 2013 A new germline VHL gene mutation in three patients with apparently sporadic pheochromocytoma.
22931246 2012 Tumor microvasculature with endothelial fenestrations in VHL null clear cell renal cell carcinomas as a potent target of anti-angiogenic therapy.
22906772 2012 Longitudinal analysis of retinal hemangioblastomatosis and visual function in ocular von Hippel-Lindau disease.
22825683 2012 Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma.
22806541 2012 Identification and functional characterization of pVHL-dependent cell surface proteins in renal cell carcinoma.
22799452 2012 Identification of 3 novel VHL germ-line mutations in Danish VHL patients.
22714833 2012 Increased expression of the von Hippel-Lindau gene in the implantation site of human tubal pregnancy.
22673568 2012 Systemic VHL gene functions and the VHL disease.
22673518 2012 Knockdown of von Hippel-Lindau protein decreases lung cancer cell proliferation and colonization.
22649212 2012 VHL regulates the effects of miR-23b on glioma survival and invasion via suppression of HIF-1?/VEGF and ?-catenin/Tcf-4 signaling.
22642103 [Localization of point mutations in the coding part of the VHL gene in clear cell renal cancer].
22585604 2012 Expression of von Hippel-Lindau gene product (pVHL) and S100P in cystic neoplasms of the pancreas--with an implication for their roles in tumorigenesis.
22532874 2012 pVHL mediates K63-linked ubiquitination of nCLU.
22516261 2012 VHL-regulated MiR-204 suppresses tumor growth through inhibition of LC3B-mediated autophagy in renal clear cell carcinoma.
22462637 2012 A mutation at IVS1 + 5 of the von Hippel-Lindau gene resulting in intron retention in transcripts is not pathogenic in a patient with a tongue cancer?: case report.
22438210 2012 Genetic screening for von Hippel-Lindau gene mutations in non-syndromic pheochromocytoma: low prevalence and false-positives or misdiagnosis indicate a need for caution.
22393103 2012 Von hippel-lindau disease and erythrocytosis.
22389506 2012 Novel insight into KLF4 proteolytic regulation in estrogen receptor signaling and breast carcinogenesis.
22357542 2012 Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients.
22351759 2012 Runx2 protein stabilizes hypoxia-inducible factor-1? through competition with von Hippel-Lindau protein (pVHL) and stimulates angiogenesis in growth plate hypertrophic chondrocytes.
22286234 2012 pVHL-mediated transcriptional repression of c-Myc by recruitment of histone deacetylases.
22286099 2012 The LIMD1 protein bridges an association between the prolyl hydroxylases and VHL to repress HIF-1 activity.
22284679 2012 Regulation of KLF4 turnover reveals an unexpected tissue-specific role of pVHL in tumorigenesis.
22270996 2012 Prevalence of germline mutations in patients with pheochromocytoma or abdominal paraganglioma and sporadic presentation: a population-based study in Western Sweden.
22234250 2012 The interaction of the von Hippel-Lindau tumor suppressor and heterochromatin protein 1.
22156657 2012 Growth kinetics in von Hippel-Lindau-associated renal cell carcinoma.
22150821 2012 Hypoxia-inducible factor 1 activation from adipose protein 2-cre mediated knockout of von Hippel-Lindau gene leads to embryonic lethality.
22125026 2012 Role of VHL gene mutation in human renal cell carcinoma.
22105711 2012 Effects of point mutations in pVHL on the binding of HIF-1?.
22086907 2012 Association of the von Hippel-Lindau protein with AUF1 and posttranscriptional regulation of VEGFA mRNA.
22084938 2012 Association between VHL single nucleotide polymorphism (rs779805) and the susceptibility to prostate cancer in Chinese.
22071692 2011 Phosphorylation of von Hippel-Lindau protein by checkpoint kinase 2 regulates p53 transactivation.
22022277 2011 Von Hippel-Lindau (VHL) inactivation in sporadic clear cell renal cancer: associations with germline VHL polymorphisms and etiologic risk factors.
22020339 2012 JunB promotes cell invasion and angiogenesis in VHL-defective renal cell carcinoma.
21993671 2012 Pulmonary artery pressure and iron deficiency in patients with upregulation of hypoxia sensing due to homozygous VHL(R200W) mutation (Chuvash polycythemia).
21972040 2012 Germline mutations of the VHL gene in seven Chinese families with von Hippel-Lindau disease.
21962529 2013 Investigation of tumor suppressor genes apart from VHL on 3p by deletion mapping in sporadic clear cell renal cell carcinoma (cRCC).
21949687 2011 The von Hippel-Lindau tumor suppressor protein promotes c-Cbl-independent poly-ubiquitylation and degradation of the activated EGFR.
21942715 2011 Proteomic dissection of the von Hippel-Lindau (VHL) interactome.
21888897 2011 Kelch-like 20 up-regulates the expression of hypoxia-inducible factor-2? through hypoxia- and von Hippel-Lindau tumor suppressor protein-independent regulatory mechanisms.
21876117 2011 Chuvash polycythemia VHLR200W mutation is associated with down-regulation of hepcidin expression.
21798997 2011 Interplay between pVHL and mTORC1 pathways in clear-cell renal cell carcinoma.
21791076 2011 Inactivation of the von Hippel-Lindau tumour suppressor gene induces Neuromedin U expression in renal cancer cells.
21778301 2012 The polymorphisms in the VHL and HIF1A genes are associated with the prognosis but not the development of renal cell carcinoma.
21763962 2011 New insights into the biology of renal cell carcinoma.
21725364 2012 The von Hippel-Lindau tumor suppressor protein regulates gene expression and tumor growth through histone demethylase JARID1C.
21715564 2011 VHL gene mutations and their effects on hypoxia inducible factor HIF?: identification of potential driver and passenger mutations.
21685785 2011 Spinal hemangioblastoma.
21642472 2011 Role of von Hippel-Lindau protein in fibroblast proliferation and fibrosis.
21632985 2011 A HIF-regulated VHL-PTP1B-Src signaling axis identifies a therapeutic target in renal cell carcinoma.
21625219 2011 Cancer cells promote survival through depletion of the von Hippel-Lindau tumor suppressor by protein crosslinking.
21606165 2011 The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia.
21602890 2011 Loss of Mel-18 induces tumor angiogenesis through enhancing the activity and expression of HIF-1? mediated by the PTEN/PI3K/Akt pathway.
21602888 2011 Inactivation of the von Hippel-Lindau tumor suppressor leads to selective expression of a human endogenous retrovirus in kidney cancer.
21556796 2011 The relationship between EGFR gain and VHL loss in lung adenocarcinoma and poor patient survival.
21547579 2011 VHL genetic alteration in CCRCC does not determine de-regulation of HIF, CAIX, hnRNP A2/B1 and osteopontin.
21528828 2011 Two pediatric patients with Von Hippel-Lindau disease type 2b: from patient to screening, from screening to patient.
21493813 2011 Conditional VHL gene deletion activates a local NO-VEGF axis in a balanced manner reinforcing resistance to endothelium-targeted glomerulonephropathy.
21463266 2011 Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population.
21436690 2011 Aberrant expression of the von Hippel-Lindau gene in human endometrial hyperplasia and endometrial carcinoma.
21415706 2011 Expression of VHL and HIF-1? and Their Clinicopathologic Significance in Benign and Malignant Lesions of the Gallbladder.
21386872 2011 von Hippel-Lindau disease: a clinical and scientific review.
21362373 2011 Molecular basis of von Hippel-Lindau syndrome in Chinese patients.
21358672 2011 von Hippel-Lindau protein promotes Skp2 destabilization on DNA damage.
21299348 2011 The expression pattern of Von Hippel-Lindau tumor suppressor protein, MET proto-oncogene, and TFE3 transcription factor oncoprotein in renal cell carcinoma in Upper Egypt.
21258414 2011 Mutations of the von Hippel-Lindau gene confer increased susceptibility to natural killer cells of clear-cell renal cell carcinoma.
21233420 2011 VHL loss in renal cell carcinoma leads to up-regulation of CUB domain-containing protein 1 to stimulate PKC{delta}-driven migration.
21204227 2011 Genotype-phenotype correlations of pheochromocytoma in two large von Hippel-Lindau (VHL) type 2A kindreds with different missense mutations.
21151099 2011 VHL mutations and dysregulation of pVHL- and PTEN-controlled pathways in multilocular cystic renal cell carcinoma.
21042786 2010 The relationship of erythropoietin overexpression with von Hippel-Lindau tumour suppressor gene mutations between hypoxia-inducible factor-1? and -2? in sporadic clear cell renal carcinoma.
20980436 2010 Research resource: Transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas.
20978319 2010 VHL genetic alteration in CCRCC does not determine de-regulation of HIF, CAIX, hnRNP A2/B1 and osteopontin.
20978146 2010 von Hippel-Lindau-dependent patterns of RNA polymerase II hydroxylation in human renal clear cell carcinomas.
20973793 2010 New cancer targets emerging from studies of the Von Hippel-Lindau tumor suppressor protein.
20964835 2010 The VHL-dependent regulation of microRNAs in renal cancer.
20952286 2011 Clear cell papillary renal cell carcinoma and clear cell renal cell carcinoma arising in acquired cystic disease of the kidney: an immunohistochemical and genetic study.
20871634 2011 Regulation of receptor for activated C kinase 1 protein by the von Hippel-Lindau tumor suppressor in IGF-I-induced renal carcinoma cell invasiveness.
20863722 Paraffin-embedded tissue is less accurate than frozen section analysis for determining VHL mutational status in sporadic renal cell carcinoma.
20855504 2010 Quantitative image analysis identifies pVHL as a key regulator of microtubule dynamic instability.
20844582 2010 Ubiquitin/SUMO modification regulates VHL protein stability and nucleocytoplasmic localization.
20802534 2011 Hypoxia and cell cycle regulation of the von Hippel-Lindau tumor suppressor.
20680678 2010 No evidence for DNA methylation of von Hippel-Lindau ubiquitin ligase complex genes in breast cancer.
20651059 2010 Biomarkers predicting outcome in patients with advanced renal cell carcinoma: Results from sorafenib phase III Treatment Approaches in Renal Cancer Global Evaluation Trial.
20637892 2010 Phosphorylation of the von Hippel-Lindau protein (VHL) by protein kinase CK2 reduces its protein stability and affects p53 and HIF-1alpha mediated transcription.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20599784 2010 LW6, a novel HIF-1 inhibitor, promotes proteasomal degradation of HIF-1alpha via upregulation of VHL in a colon cancer cell line.
20567917 2010 Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation.
20560986 2011 Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma.
20453000 2010 A Large-scale genetic association study of esophageal adenocarcinoma risk.
20447124 2010 Clinical and molecular features of familial and sporadic cases of von Hippel-Lindau disease from Mexico.
20431476 2010 VHL-gene deletion in single renal tubular epithelial cells and renal tubular cysts: further evidence for a cyst-dependent progression pathway of clear cell renal carcinoma in von Hippel-Lindau disease.
20382408 2010 S100P, von Hippel-Lindau gene product, and IMP3 serve as a useful immunohistochemical panel in the diagnosis of adenocarcinoma on endoscopic bile duct biopsy.
20382342 2010 Body mass index and von Hippel-Lindau gene mutations in clear-cell renal cancer: Results of the Netherlands Cohort Study on diet and cancer.
20375333 2010 Genotype-phenotype correlation in ocular von Hippel-Lindau (VHL) disease: the effect of missense mutation position on ocular VHL phenotype.
20300531 2010 Hypoxia inactivates the VHL tumor suppressor through PIASy-mediated SUMO modification.
20208144 2010 Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management.
20205103 Germinal mutations of RET, SDHB, SDHD, and VHL genes in patients with apparently sporadic pheochromocytomas and paragangliomas.
20185829 2010 Identification of Ror2 as a hypoxia-inducible factor target in von Hippel-Lindau-associated renal cell carcinoma.
20145706 2009 VHL frameshift mutation as target of nonsense-mediated mRNA decay in Drosophila melanogaster and human HEK293 cell line.
20137853 2010 TP53, EGFR, and KRAS mutations in relation to VHL inactivation and lifestyle risk factors in renal-cell carcinoma from central and eastern Europe.
20068166 2010 NF-kappaB-dependent plasticity of the epithelial to mesenchymal transition induced by Von Hippel-Lindau inactivation in renal cell carcinomas.
19940550 2009 Targeting vascular endothelial growth factor in renal cell carcinoma.
19933033 2009 Identification of somatic mutations in the von Hippel-Lindau (VHL) gene in a patient with renal cell carcinoma.
19915370 2009 [Mutations in hypoxia-inducible factor and its regulatory molecules in familial erythrocytosis].
19915015 2010 Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19906784 2010 Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome.
19825962 2009 Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients.
19814753 2010 Low frequency of VHL germline mutations in Norwegian patients presenting with isolated central nervous system hemangioblastomas--a population-based study.
19808854 2009 Parasympathetic paragangliomas are part of the Von Hippel-Lindau syndrome.
19806577 2009 [Large germline deletion of the VHL gene in Chinese families with von Hippel-Lindau syndrome].
19801654 2009 Von Hippel-Lindau gene product modulates TIS11B expression in renal cell carcinoma: impact on vascular endothelial growth factor expression in hypoxia.
19764026 2009 Genotype-phenotype correlations in VHL exon deletions.
19759417 2009 Different angiogenic potential in low and high grade sporadic clear cell renal cell carcinoma is not related to alterations in the von Hippel-Lindau gene.
19690016 2009 VHL inactivation is an important pathway for the development of malignant sporadic pancreatic endocrine tumors.
19649731 2009 Mutation screening of VHL gene in a family with malignant bilateral pheochromocytoma: from isolated familial pheochromocytoma to von Hippel-Lindau disease.
19629420 2009 Novel insights into the role of the tumor suppressor von Hippel Lindau in cellular differentiation, ciliary biology, and cyst repression.
19620968 2009 VHL loss causes spindle misorientation and chromosome instability.
19602254 2009 Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes.
19584355 2009 Oxygen-regulated beta(2)-adrenergic receptor hydroxylation by EGLN3 and ubiquitylation by pVHL.
19574279 2009 Germline VHL gene mutations in Hungarian families with von Hippel-Lindau disease and patients with apparently sporadic unilateral pheochromocytomas.
19525194 2009 Von Hippel-Lindau methylation status in patients with multiple myeloma: a potential predictive factor for the development of bone disease.
19464396 Germline mutations in the von Hippel-Lindau gene in Italian patients.
19464057 2009 A high-throughput candidate gene mutation screen in lymphoproliferative and myeloproliferative neoplasias.
19458911 2009 15-Deoxy-Delta(12,14)-prostaglandin-J(2) reveals a new pVHL-independent, lysosomal-dependent mechanism of HIF-1alpha degradation.
19419968 2009 Regulation of cell proliferation and migration by TAK1 via transcriptional control of von Hippel-Lindau tumor suppressor.
19411751 2009 [Expression of VHL and HIF-1alpha and its clinical significance in the lung cancer tissue].
19408298 2009 Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis.
19401348 2009 Loss of VHL and hypoxia provokes PAX2 up-regulation in clear cell renal cell carcinoma.
19399650 2009 Mutations and polymorphisms in the SDHB, SDHD, VHL, and RET genes in sporadic and familial pheochromocytomas.
19351817 2009 Genetic mutations associated with cigarette smoking in pancreatic cancer.
19343621 2009 Rationalization of genetic testing in patients with apparently sporadic pheochromocytoma/paraganglioma.
19340311 2009 Deciphering von Hippel-Lindau (VHL/Vhl)-associated pancreatic manifestations by inactivating Vhl in specific pancreatic cell populations.
19336759 2009 Aberrant regulation of pVHL levels by microRNA promotes the HIF/VEGF axis in CLL B cells.
19336503 2009 Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.
19305426 2009 The von Hippel-Lindau protein sensitizes renal carcinoma cells to apoptotic stimuli through stabilization of BIM(EL).
19288063 2009 A vitronectin M381T polymorphism increases risk of hemangioblastoma in patients with VHL gene defect.
19280651 2009 Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients.
19258401 2009 Genetics of pheochromocytoma and paraganglioma in Spanish patients.
19252526 2009 VHL Type 2B gene mutation moderates HIF dosage in vitro and in vivo.
19238077 2009 Pancreatic endocrine microadenomatosis in patients with von Hippel-Lindau disease: characterization by VHL/HIF pathway proteins expression.
19228690 2009 VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL.
19223516 2009 Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas.
19216840 2009 VHL gene mutations in renal cell carcinoma: role as a biomarker of disease outcome and drug efficacy.
19215943 2009 Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma.
19208735 2009 Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours.
19208626 2009 Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline.
19162062 2009 Identification of novel VHL regulated genes by transcriptomic analysis of RCC10 renal carcinoma cells.
19159641 2009 iTRAQ proteomic identification of pVHL-dependent and -independent targets of Egln1 prolyl hydroxylase knockdown in renal carcinoma cells.
19158274 2009 Key role for activin B in cellular transformation after loss of the von Hippel-Lindau tumor suppressor.
19145771 2009 Rare presentation of familial paraganglioma without evidence of mutation in the SDH, RET and VHL genes: towards further genetic heterogeneity.
19133167 2009 Familial and genetic researches on three Chinese families with von Hippel-Lindau disease.
19073886 2009 Regulation of renal epithelial tight junctions by the von Hippel-Lindau tumor suppressor gene involves occludin and claudin 1 and is independent of E-cadherin.
19064569 2008 Alcohol consumption and mutations or promoter hypermethylation of the von Hippel-Lindau gene in renal cell carcinoma.
19062180 2009 Altered cytokine profiles in patients with Chuvash polycythemia.
19061835 2008 HIF-alpha effects on c-Myc distinguish two subtypes of sporadic VHL-deficient clear cell renal carcinoma.
19056930 2009 von Hippel-Lindau tumor suppressor gene-dependent mRNA stabilization of the survival factor parathyroid hormone-related protein in human renal cell carcinoma by the RNA-binding protein HuR.
19030229 2008 VHL type 2B mutations retain VBC complex form and function.
19029228 2009 Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation?
19018165 2008 Inhibition of Mxi1 suppresses HIF-2alpha-dependent renal cancer tumorigenesis.
18998488 2008 Two hypoxia sensor genes and their association with symptoms of acute mountain sickness in Sherpas.
18985005 2008 STAT3 inhibits the degradation of HIF-1alpha by pVHL-mediated ubiquitination.
18950731 2009 VHL loss of function and its impact on oncogenic signaling networks in clear cell renal cell carcinoma.
18836774 2008 Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene.
18806787 2008 Jade-1 inhibits Wnt signalling by ubiquitylating beta-catenin and mediates Wnt pathway inhibition by pVHL.
18780286 2008 Egr-1 and serum response factor are involved in growth factors- and serum-mediated induction of E2-EPF UCP expression that regulates the VHL-HIF pathway.
18751980 2008 [Von-Hippel-Lindau gene mutation types. Association of gene expression signatures in clear cell renal cell carcinoma].
18751708 2008 [Von-Hippel-Lindau (VHL) protein function by initiation and progression of renal cancer].
18694926 2008 Identification of an alternative mechanism of degradation of the hypoxia-inducible factor-1alpha.
18685280 2008 Germline mutation in the von Hippel-Lindau gene in Kuwait: a clinical and molecular study.
18676741 2008 Improved identification of von Hippel-Lindau gene alterations in clear cell renal tumors.
18635227 2008 von Hippel-Lindau gene status and response to vascular endothelial growth factor targeted therapy for metastatic clear cell renal cell carcinoma.
18607865 2008 Genetic and epigenetic analysis of the VHL gene in gastric cancers.
18559510 2008 Endothelial function of von Hippel-Lindau tumor suppressor gene: control of fibroblast growth factor receptor signaling.
18551016 2008 High prevalence of SDHB mutations in head and neck paraganglioma in Belgium.
18517280 2008 Cytogenetic studies of 24 renal epithelial tumors with von Hippel-Lindau and fragile histidine triad protein expression correlation.
18474617 2008 Combined VHLH and PTEN mutation causes genital tract cystadenoma and squamous metaplasia.
18446368 2008 Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families.
18426857 2008 Nitric oxide donor, (+/-)-S-nitroso-N-acetylpenicillamine, stabilizes transactive hypoxia-inducible factor-1alpha by inhibiting von Hippel-Lindau recruitment and asparagine hydroxylation.
18424433 2008 The COP9/signalosome increases the efficiency of von Hippel-Lindau protein ubiquitin ligase-mediated hypoxia-inducible factor-alpha ubiquitination.
18423895 2008 Endolymphatic sac tumor (aggressive papillary tumor of middle ear and temporal bone): report of two cases with analysis of the VHL gene.
18416845 2008 Ser80Ile mutation and a concurrent Pro25Leu variant of the VHL gene in an extended Hungarian von Hippel-Lindau family.
18408496 2008 Ocular von Hippel-Lindau disease: clinical update and emerging treatments.
18389622 [Inactivation of the VHL gene in sporadic clear cell renal cancer].
18359287 2008 Two novel VHL targets, TGFBI (BIGH3) and its transactivator KLF10, are up-regulated in renal clear cell carcinoma and other tumors.
18323857 2008 NEDD8 acts as a 'molecular switch' defining the functional selectivity of VHL.
18285459 2008 The von Hippel-Lindau tumor suppressor protein and Egl-9-Type proline hydroxylases regulate the large subunit of RNA polymerase II in response to oxidative stress.
18245539 2008 Genetic and epigenetic alterations in the von hippel-lindau gene: the influence on renal cancer prognosis.
18223282 2008 Elevated homocysteine, glutathione and cysteinylglycine concentrations in patients homozygous for the Chuvash polycythemia VHL mutation.
18212329 2008 Cyr61/CCN1 and CTGF/CCN2 mediate the proangiogenic activity of VHL-mutant renal carcinoma cells.
18162774 2008 Diagnostic utility of S100P and von Hippel-Lindau gene product (pVHL) in pancreatic adenocarcinoma-with implication of their roles in early tumorigenesis.
18094722 2008 Methylation analysis of the von Hippel-Lindau gene in acute myeloid leukaemia and myelodysplastic syndromes.
18085246 2008 Mutation of the von Hippel-Lindau gene alters human cardiopulmonary physiology.
18079682 2007 Ocular clusterin expression in von Hippel-Lindau disease.
18073334 2008 Hypoxia-mediated Na-K-ATPase degradation requires von Hippel Lindau protein.
18072267 2008 Tongue cancer patients have a high frequency of allelic loss at the von Hippel-Lindau gene and other loci on 3p.
17998064 2007 The von hippel-lindau tumor suppressor protein: an update.
17997830 2007 Trichloroethylene exposure and somatic mutations of the VHL gene in patients with Renal Cell Carcinoma.
17986458 2007 A yeast two-hybrid system reconstituting substrate recognition of the von Hippel-Lindau tumor suppressor protein.
17981124 2007 SUMO-specific protease 1 is essential for stabilization of HIF1alpha during hypoxia.
17973242 2008 Loss of PL6 protein expression in renal clear cell carcinomas and other VHL-deficient tumours.
17967880 2008 Cancer-causing mutations in a novel transcription-dependent nuclear export motif of VHL abrogate oxygen-dependent degradation of hypoxia-inducible factor.
17954272 2007 Exclusion of APC and VHL gene deletions by array-based comparative hybridization in two patients with microscopically visible chromosomal aberrations.
17936701 2007 pVHL acts as an adaptor to promote the inhibitory phosphorylation of the NF-kappaB agonist Card9 by CK2.
17919893 2007 VHL protein alterations in sporadic renal cell carcinoma.
17912253 2008 Allele-specific regulation of primary cilia function by the von Hippel-Lindau tumor suppressor.
17906660 2007 Nuclear E-cadherin and VHL immunoreactivity are prognostic indicators of clear-cell renal cell carcinoma.
17898043 2007 JAK kinases promote invasiveness in VHL-mediated renal cell carcinoma by a suppressor of cytokine signaling-regulated, HIF-independent mechanism.
17846357 2007 Internal en bloc resection and genetic analysis of retinal capillary hemangioblastoma.
17825299 2007 The von Hippel-Lindau tumour suppressor interacts with microtubules through kinesin-2.
17786294 2007 The expression of the von Hippel-Lindau gene product and its impact on invasiveness of human breast cancer cells.
17696210 2008 Novel somatic mutations of the VHL gene in an erythropoietin-producing renal carcinoma associated with secondary polycythemia and elevated circulating endothelial progenitor cells.
17688370 2007 Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease.
17680521 2007 [Mutation screening of VHL gene in a Chinese family with nonsyndromic pheochromocytoma].
17661816 2007 Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification.
17639058 2007 Candidate gene mutation analysis in bilateral adrenal pheochromocytoma and sympathetic paraganglioma.
17568584 2007 The hypoxia-inducible factor is stabilized in circulating hematopoietic stem cells under normoxic conditions.
17555795 2007 Expression of hypoxia-inducible factor 1alpha, hypoxia-inducible factor 2alpha, and von Hippel-Lindau protein in epithelial ovarian neoplasms and allelic loss of von Hippel-Lindau gene: nuclear expression of hypoxia-inducible factor 1alpha is an independent prognostic factor in ovarian carcinoma.
17526729 2007 Hypoxia-inducible factor linked to differential kidney cancer risk seen with type 2A and type 2B VHL mutations.
17486080 2007 The VHL tumor suppressor inhibits expression of the IGF1R and its loss induces IGF1R upregulation in human clear cell renal carcinoma.
17450132 2007 pVHL and GSK3beta are components of a primary cilium-maintenance signalling network.
17438007 2007 Somatic mutations of the von Hippel-Lindau disease gene in renal carcinomas occurring in patients with long-term dialysis.
17407064 2007 [Germ line mutations in Chinese kindreds with von Hippel-Lindau syndrome].
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17353276 2007 The peptidyl prolyl cis/trans isomerase FKBP38 determines hypoxia-inducible transcription factor prolyl-4-hydroxylase PHD2 protein stability.
17350623 2007 PKCzetaII is a target for degradation through the tumour suppressor protein pVHL.
17344846 2007 Patterns of somatic mutation in human cancer genomes.
17296901 2007 Genotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis.
17264095 2007 VHL mutation analysis in patients with isolated central nervous system haemangioblastoma.
17255293 2007 The von Hippel-Lindau tumor suppressor protein and clear cell renal carcinoma.
17245122 2007 The role of VHL in the regulation of E-cadherin: a new connection in an old pathway.
17200123 2007 NAD(P)H oxidases regulate HIF-2alpha protein expression.
17102080 2006 Genetic analyses of apparently sporadic pheochromocytomas: the Rotterdam experience.
17101696 2006 The von Hippel-Lindau tumor suppressor protein controls ciliogenesis by orienting microtubule growth.
17069461 2006 EC5S ubiquitin complex is recruited by KSHV latent antigen LANA for degradation of the VHL and p53 tumor suppressors.
17060462 2007 VHL promotes E2 box-dependent E-cadherin transcription by HIF-mediated regulation of SIP1 and snail.
17006605 2006 Molecular analysis of two uncharacterized sequence variants of the VHL gene.
16983094 2006 The von Hippel-Lindau tumor suppressor gene product represses oncogenic beta-catenin signaling in renal carcinoma cells.
16951198 2006 Class II histone deacetylases are associated with VHL-independent regulation of hypoxia-inducible factor 1 alpha.
16892044 2006 Cigarette smoking, von Hippel-Lindau gene mutations and sporadic renal cell carcinoma.
16884327 2006 VHL P25L is not a pathogenic von Hippel-Lindau mutation: a family study.
16856496 2006 Interaction between Mnk2 and CBC(VHL) ubiquitin ligase E3 complex.
16849532 2006 Primary cilium formation requires von hippel-lindau gene function in renal-derived cells.
16769276 2006 The prevalence of germline BRCA1 and BRCA2 mutations in young women with breast cancer undergoing breast-conservation therapy.
16768548 2006 Mutation of von Hippel-Lindau tumour suppressor and human cardiopulmonary physiology.
16707008 2006 Somatic VHL gene alterations in MEN2-associated medullary thyroid carcinoma.
16678111 2006 p53 stabilization and transactivation by a von Hippel-Lindau protein.
16669786 2006 The von Hippel-Lindau tumour-suppressor protein interaction with protein kinase Cdelta.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
16511565 2006 Metastasis-associated protein 1 enhances stability of hypoxia-inducible factor-1alpha protein by recruiting histone deacetylase 1.
16506218 2006 The von Hippel-Lindau tumor suppressor gene expression level has prognostic value in neuroblastoma.
16503656 2006 Analysis of Nedd8-associated polypeptides: a model for deciphering the pathway for ubiquitin-like modifications.
16502427 2006 The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.
16407835 2006 Homotypic association between tumour-associated VHL proteins leads to the restoration of HIF pathway.
16314641 2005 Genetic testing in pheochromocytoma or functional paraganglioma.
16278378 2005 Signal pathway of hypoxia-inducible factor-1alpha phosphorylation and its interaction with von Hippel-Lindau tumor suppressor protein during ischemia in MiaPaCa-2 pancreatic cancer cells.
16261165 2006 Renal cell carcinoma risk in type 2 von Hippel-Lindau disease correlates with defects in pVHL stability and HIF-1alpha interactions.
16234850 2005 Erythroid-specific 5-aminolevulinate synthase protein is stabilized by low oxygen and proteasomal inhibition.
16210343 2006 Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.
16208141 2005 Hypertension, antihypertensives and mutations in the Von Hippel-Lindau gene in renal cell carcinoma: results from the Netherlands Cohort Study.
16170373 2005 Role of elongin-binding domain of von Hippel Lindau gene product on HuR-mediated VPF/VEGF mRNA stability in renal cell carcinoma.
16144691 Hypoxia and HIF-1 alpha in chondrogenesis.
16142346 2005 Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas.
16107702 2005 Mechanism of von Hippel-Lindau protein-mediated suppression of nuclear factor kappa B activity.
15998523 2005 Expression of p53 in renal carcinoma cells is independent of pVHL.
15985433 2005 Loss of the von Hippel Lindau tumor suppressor disrupts iron homeostasis in renal carcinoma cells.
15962286 2005 Induction of the von Hippel-Lindau tumor suppressor gene by late hypoxia limits HIF-1 expression.
15932632 2005 Prevalence of von Hippel-Lindau gene mutations in sporadic renal cell carcinoma: results from The Netherlands cohort study.
15921386 2005 Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin.
15893810 2005 Loss of expression of von Hippel-Lindau tumor suppressor protein associated with improved survival in patients with early-stage clear cell renal cell carcinoma.
15849821 2005 Expression of von Hippel-Lindau tumor suppressor and tumor-associated carbonic anhydrases IX and XII in normal and neoplastic colorectal mucosa.
15824735 2005 Identification of novel VHL target genes and relationship to hypoxic response pathways.
15824109 2005 Tumor suppression by the von Hippel-Lindau protein requires phosphorylation of the acidic domain.
15809750 2005 Somatic VHL alteration and its impact on prognosis in patients with clear cell renal cell carcinoma.
15805242 2005 Tid-1 interacts with the von Hippel-Lindau protein and modulates angiogenesis by destabilization of HIF-1alpha.
15777842 2005 The pathway for IRP2 degradation involving 2-oxoglutarate-dependent oxygenase(s) does not require the E3 ubiquitin ligase activity of pVHL.
15750626 2005 Role of the von Hippel-Lindau tumour suppressor protein in the regulation of HIF-1alpha and its oxygen-regulated transactivation domains at high cell density.
15721254 2005 OS-9 interacts with hypoxia-inducible factor 1alpha and prolyl hydroxylases to promote oxygen-dependent degradation of HIF-1alpha.
15696489 2005 [Analysis of two single nucleotide polymorphisms in von Hippel-Lindau gene and detection of loss of heterozygosity in Chinese sporadic renal cell carcinoma].
15611064 2005 Inactivation of VHL by tumorigenic mutations that disrupt dynamic coupling of the pVHL.hypoxia-inducible transcription factor-1alpha complex.
15608669 2005 VHL expression in renal cell carcinoma sensitizes to bortezomib (PS-341) through an NF-kappaB-dependent mechanism.
15607616 2004 Familial isolated pheochromocytoma presenting a new mutation in the von Hippel-Lindau gene.
15604095 2005 A new role for the von Hippel-Lindau tumor suppressor protein: stimulation of mitochondrial oxidative phosphorylation complex biogenesis.
15601820 2004 VHL-box and SOCS-box domains determine binding specificity for Cul2-Rbx1 and Cul5-Rbx2 modules of ubiquitin ligases.
15572213 2005 Molecular pathogenesis of Philadelphia chromosome negative myeloproliferative disorders.
15530850 2004 The von Hippel-Lindau tumor suppressor protein influences microtubule dynamics at the cell periphery.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15467305 A novel germline mutation in the von Hippel-Lindau gene in patients in Kuwait.
15448019 2004 The von Hippel-Lindau tumor suppressor gene and kidney cancer.
15300849 2004 Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.
15162797 2004 von Hippel-Lindau tumor suppressor: not only HIF's executioner.
15122713 2004 Developmental effects of von Hippel-Lindau gene deficiency.
14985465 2004 Inhibition of hypoxia-inducible factor is sufficient for growth suppression of VHL-/- tumors.
14963040 2004 The von Hippel-Lindau tumor suppressor protein is a molten globule under native conditions: implications for its physiological activities.
14767570 2004 A variety of phenotype with R161Q germline mutation of the von Hippel-Lindau tumor suppressor gene in Japanese kindred.
14729622 2004 Parathyroid hormone-related protein is an essential growth factor for human clear cell renal carcinoma and a target for the von Hippel-Lindau tumor suppressor gene.
14726398 2004 Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors.
14722919 2004 Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14691554 2003 Inhibition of HIF2alpha is sufficient to suppress pVHL-defective tumor growth.
14667507 2003 The t(1;3) breakpoint-spanning genes LSAMP and NORE1 are involved in clear cell renal cell carcinomas.
14636579 2003 Tumorigenic mutations in VHL disrupt folding in vivo by interfering with chaperonin binding.
14604959 2004 The worldwide distribution of the VHL 598C>T mutation indicates a single founding event.
14556007 2003 Tat-binding protein-1, a component of the 26S proteasome, contributes to the E3 ubiquitin ligase function of the von Hippel-Lindau protein.
14531799 2003 VHL down-regulation and differential localization as mechanisms in tumorigenesis.
14517280 2003 Influence of the RNA-binding protein HuR in pVHL-regulated p53 expression in renal carcinoma cells.
14506252 2003 The von Hippel Lindau/hypoxia-inducible factor (HIF) pathway regulates the transcription of the HIF-proline hydroxylase genes in response to low oxygen.
14500403 2003 Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.
13985160 1962 Familial pheochromocytoma.
13679920 2003 Chemokine receptor CXCR4 downregulated by von Hippel-Lindau tumour suppressor pVHL.
12937142 2003 Relevance of nuclear and cytoplasmic von hippel lindau protein expression for renal carcinoma progression.
12912922 2003 Identification of the RNA polymerase II subunit hsRPB7 as a novel target of the von Hippel-Lindau protein.
12844285 2003 Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.
12839965 2003 Allele loss and promoter hypermethylation of VHL, RAR-beta, RASSF1A, and FHIT tumor suppressor genes on chromosome 3p in esophageal squamous cell carcinoma.
12821933 2003 Role of nuclear and cytoplasmic localization in the tumour-suppressor activity of the von Hippel-Lindau protein.
12810083 2003 pVHL-independent ubiquitination of HIF1alpha and its stabilization by cobalt ion.
12781449 2003 Expression of HIF-1 and ubiquitin in conventional renal cell carcinoma: relationship to mutations of the von Hippel-Lindau tumor suppressor gene.
12767066 2003 Downregulation of Cap43 gene by von Hippel-Lindau tumor suppressor protein in human renal cancer cells.
12743597 2003 Loss of von Hippel-Lindau protein causes cell density dependent deregulation of CyclinD1 expression through hypoxia-inducible factor.
12697815 2003 The Hsp70 and TRiC/CCT chaperone systems cooperate in vivo to assemble the von Hippel-Lindau tumor suppressor complex.
12692265 2003 Gene expression profiling in a renal cell carcinoma cell line: dissecting VHL and hypoxia-dependent pathways.
12684640 Epigenetic changes of tumor suppressor genes, P15, P16, VHL and P53 in oral cancer.
12682336 2003 Meningioma showing VHL gene inactivation in a patient with von Hippel-Lindau disease.
12682018 2003 The VHL protein recruits a novel KRAB-A domain protein to repress HIF-1alpha transcriptional activity.
12673678 2003 Von Hippel-Lindau gene alterations in sporadic benign and malignant pheochromocytomas.
12644949 2003 von Hippel-Lindau disease type 2A in a family with a duplicated 21-base-pair in-frame insertion mutation in the VHL gene.
12640117 2003 von Hippel-Lindau protein-mediated repression of tumor necrosis factor alpha translation revealed through use of cDNA arrays.
12609565 2003 Absence of mutations in the VHL gene but frequent loss of heterozygosity at 3p25-26 in non-small cell lung carcinomas.
12538644 2003 Multiple splice variants of the human HIF-3 alpha locus are targets of the von Hippel-Lindau E3 ubiquitin ligase complex.
12511881 2003 New insights into an enigmatic tumour suppressor.
12510195 2003 Regulation of microtubule stability by the von Hippel-Lindau tumour suppressor protein pVHL.
12490973 2002 Loss of heterozygosity of p53, BRCA1, VHL, and estrogen receptor genes in breast carcinoma: correlation with related protein products and morphologic features.
12482756 2003 Structure of human FIH-1 reveals a unique active site pocket and interaction sites for HIF-1 and von Hippel-Lindau.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12468553 2003 Identification of residues critical for regulation of protein stability and the transactivation function of the hypoxia-inducible factor-1alpha by the von Hippel-Lindau tumor suppressor gene product.
12460920 2002 Von Hippel-Lindau tumor suppressor protein transforms human neuroblastoma cells into functional neuron-like cells.
12415268 2002 Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.
12414898 2002 VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V.
12393546 2003 Mutations in the VHL gene in sporadic apparently congenital polycythemia.
12378530 2002 Somatic von Hippel-Lindau disease gene mutation in clear-cell renal carcinomas associated with end-stage renal disease/acquired cystic disease of the kidney.
12374282 2002 The von Hippel-Lindau tumor suppressor complex and regulation of hypoxia-inducible transcription.
12351678 2002 Biochemical purification and pharmacological inhibition of a mammalian prolyl hydroxylase acting on hypoxia-inducible factor.
12209156 2002 Molecular basis of the VHL hereditary cancer syndrome.
12169691 2002 The von Hippel-Lindau tumor suppressor stabilizes novel plant homeodomain protein Jade-1.
12114495 2002 Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene.
12114475 2002 Genetic and functional analysis of the von Hippel-Lindau (VHL) tumour suppressor gene promoter.
12097293 2002 Identification of cyclin D1 and other novel targets for the von Hippel-Lindau tumor suppressor gene by expression array analysis and investigation of cyclin D1 genotype as a modifier in von Hippel-Lindau disease.
12050673 2002 Structural basis for the recognition of hydroxyproline in HIF-1 alpha by pVHL.
12048197 2002 A molecular basis for stabilization of the von Hippel-Lindau (VHL) tumor suppressor protein by components of the VHL ubiquitin ligase.
12036906 2002 VHL-mediated hypoxia regulation of cyclin D1 in renal carcinoma cells.
12032852 2002 The TRC8 hereditary kidney cancer gene suppresses growth and functions with VHL in a common pathway.
12004076 2002 Structure of an HIF-1alpha -pVHL complex: hydroxyproline recognition in signaling.
12000816 2002 Germ-line mutations in nonsyndromic pheochromocytoma.
11987242 Endemic polycythemia in Russia: mutation in the VHL gene.
11986208 2002 Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal cell carcinoma.
11908068 2002 Roles of SCF and VHL ubiquitin ligases in regulation of cell growth.
11865075 2002 Erythropoietin, tumours and the von Hippel-Lindau gene: towards identification of mechanisms and dysfunction of oxygen sensing.
11840338 2002 Serial analysis of gene expression in renal carcinoma cells reveals VHL-dependent sensitivity to TNFalpha cytotoxicity.
11739384 2002 Ubiquitination of a novel deubiquitinating enzyme requires direct binding to von Hippel-Lindau tumor suppressor protein.
11709017 2001 Molecular characterization and ophthalmic investigation of a large family with type 2A Von Hippel-Lindau Disease.
11641274 2001 FIH-1: a novel protein that interacts with HIF-1alpha and VHL to mediate repression of HIF-1 transcriptional activity.
11517223 2001 The von Hippel-Lindau protein interacts with heteronuclear ribonucleoprotein a2 and regulates its expression.
11504942 2001 HIF-1alpha binding to VHL is regulated by stimulus-sensitive proline hydroxylation.
11483638 2001 VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality.
11384984 2001 Muf1, a novel Elongin BC-interacting leucine-rich repeat protein that can assemble with Cul5 and Rbx1 to reconstitute a ubiquitin ligase.
11292862 2001 HIFalpha targeted for VHL-mediated destruction by proline hydroxylation: implications for O2 sensing.
10973499 2000 Activation of HIF1alpha ubiquitination by a reconstituted von Hippel-Lindau (VHL) tumor suppressor complex.
10944113 2000 Mechanism of regulation of the hypoxia-inducible factor-1 alpha by the von Hippel-Lindau tumor suppressor protein.
10850420 2000 The von Hippel-Lindau tumor suppressor targets to mitochondria.
10823831 2000 Hypoxia inducible factor-alpha binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein.
10635329 1999 Formation of the VHL-elongin BC tumor suppressor complex is mediated by the chaperonin TRiC.
10627136 1998 Variable penetrance of familial pheochromocytoma associated with the von Hipple Lindau gene mutation, S68W. Mutations in brief no. 150. Online.
10535940 1999 Identification of the von Hippel-lindau tumor-suppressor protein as part of an active E3 ubiquitin ligase complex.
10533030 1999 Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene.
10523847 1999 Analysis of aberrant methylation of the VHL gene by transgenes, monochromosome transfer, and cell fusion.
10449727 1999 Studying interactions of four proteins in the yeast two-hybrid system: structural resemblance of the pVHL/elongin BC/hCUL-2 complex with the ubiquitin ligase complex SKP1/cullin/F-box protein.
10408776 1999 Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC.
10364675 1999 Localization of the gene responsible for familial benign polycythemia to chromosome 11q23.
10353251 1999 The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis.
10205047 1999 Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function.
9880225 1998 Functioning carotid paraganglioma in the von Hippel-Lindau syndrome.
9829912 1998 Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.
9829911 1998 Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.
9751722 1998 pVHL19 is a biologically active product of the von Hippel-Lindau gene arising from internal translation initiation.
9671762 1998 A second major native von Hippel-Lindau gene product, initiated from an internal translation start site, functions as a tumor suppressor.
9663592 1998 Germline mutations in the vhl gene in patients presenting with phaeochromocytomas.
9651579 1998 The von Hippel-Lindau tumor suppressor protein is required for proper assembly of an extracellular fibronectin matrix.
9452106 1998 Three novel mutations in the Von Hippel-Lindau tumour suppressor gene in Italian patients.
9452032 1998 Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing.
9399847 1998 Software and database for the analysis of mutations in the VHL gene.
9271438 1997 The von Hippel-Lindau tumor suppressor gene product interacts with Sp1 to repress vascular endothelial growth factor promoter activity.
9156047 1997 Molecular diagnosis of von Hippel-Lindau disease in a kindred with a predominance of familial phaeochromocytoma.
9122164 1997 The von Hippel-Lindau tumor-suppressor gene product forms a stable complex with human CUL-2, a member of the Cdc53 family of proteins.
8956040 1996 Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.
8931697 1996 Isolation and characterization of the full-length 3' untranslated region of the human von Hippel-Lindau tumor suppressor gene.
8863170 1996 Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A.
8825918 1995 Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas.
8765323 1996 Expression pattern of the von Hippel-Lindau protein in human tissues.
8733131 1996 Expression of the von Hippel-Lindau disease tumour suppressor gene during human embryogenesis.
8730290 1996 Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.
8700833 1996 Nuclear/cytoplasmic localization of the von Hippel-Lindau tumor suppressor gene product is determined by cell density.
8674032 1996 Identification of a novel protein (VBP-1) binding to the von Hippel-Lindau (VHL) tumor suppressor gene product.
8634692 1995 Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan.
8592333 1995 Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.
8550742 1996 Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene.
8522307 1995 Somatic von Hippel-Lindau mutation in clear cell papillary cystadenoma of the epididymis.
8493574 1993 Identification of the von Hippel-Lindau disease tumor suppressor gene.
8270255 1994 Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease: analysis of allele loss in VHL tumours.
8183553 1994 Molecular analysis of the von Hippel-Lindau disease tumor suppressor gene in human lung cancer cell lines.
8069849 1994 Somatic mutations of the von Hippel-Lindau tumor suppressor gene in sporadic central nervous system hemangioblastomas.
7987327 1994 A novel mutation in the von Hippel-Lindau gene.
7987306 1994 Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.
7829101 1994 Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening.
7759077 1995 Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect.
7728151 1995 Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.
7690964 1993 Positional cloning of the hereditary renal carcinoma 3;8 chromosome translocation breakpoint.
7660130 1995 Binding of the von Hippel-Lindau tumor suppressor protein to Elongin B and C.
7660122 1995 Inhibition of transcription elongation by the VHL tumor suppressor protein.
7604013 1995 Characterization of the VHL tumor suppressor gene product: localization, complex formation, and the effect of natural inactivating mutations.
7566098 1995 Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence.
7563486 1995 Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II.
1673491 1991 Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus.