Property Summary

NCBI Gene PubMed Count 277
PubMed Score 426.79
PubTator Score 721.71

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
glioblastoma 2.000 3.4e-05
malignant mesothelioma 3.800 8.6e-09
psoriasis -3.400 4.3e-06
cystic fibrosis -3.424 4.5e-08
atypical teratoid / rhabdoid tumor 2.800 4.4e-09
primitive neuroectodermal tumor 1.200 2.9e-04
primary pancreatic ductal adenocarcinoma 1.410 5.9e-03
non-small cell lung cancer 1.181 1.1e-10
lung cancer 1.100 3.4e-04
pediatric high grade glioma 1.400 5.6e-05
Alzheimer's disease 1.100 4.3e-02
gastric carcinoma 1.900 6.2e-03
pancreatic cancer 1.200 5.6e-03

Gene RIF (256)

PMID Text
27455010 A rare 2182C>T mutation in exon 14 of the NOTCH3 gene was identified in all available cases
26977885 The therapeutic potential of PKCiota-ELF3-NOTCH3 signal inhibition to more effectively treat KRAS LADC.
26912635 Transfection of antisense oligonucleotides into CADASIL patient-derived cerebral vascular smooth muscle cells resulted in exon skipping in NOTCH3 protein without abrogating signalling.
26858125 IL6/Notch3 signaling mediates hormone therapy resistance in metastatic breast cancer via self renewal of cancer stem cells.
26838758 Loss of Notch3 expression is associated with small cell lung carcinoma.
26715087 This study developed a novel, unique human NOTCH3 transgenic mouse model and a NOTCH3 score which is a robust and sensitive biomarker for CADASIL.
26640406 Notch2 and Notch3 inhibited both cell proliferation and cell apoptosis in BeWo and JAR trophoblast cell lines.
26308724 Mutations in NOTCH3 were associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
26270344 Study reports a family with CADASIL in Rungus ethnicity and identifies a missense mutation (c.160C>T) in exon 2 of NOTCH3.
26051713 A NOTCH3 negative regulatory region (NRR) maintains receptor quiescence by preventing protease cleavage prior to ligand binding.
26002683 There were no differences in clinical and neuroimaging features between subcortical vascular cognitive impairment patients with and without NOTCH3 variants
25982499 Two novel NOTCH3 missense mutations were identified in Chinese patients with CADASIL.
25957400 NOTCH3, but not NOTCH2 protects vascular smooth muscle cell from apoptosis.
25953367 study does not support a role for common NOTCH3 variation in the risk of sporadic small-vessel disease.
25870235 This study suggests a functional link between NOTCH3 deficiency and pathogenesis of vascular leukoencephalopathies.
25864518 prostate cancer-specific up-regulation of NOTCH3 and HES6, is reported.
25846406 Notch 3 and 4, and not Notch 1, were highly increased in human arteriovenous malformations.
25807436 SIRT6 inhibited the proliferation of ovarian cancer cells through down-regulation of Notch 3 expression.
25738469 the 684G>A polymorphism affects the tumor NOTCH3 expression level and is closely associated with a higher tumor grade, poorer tumor differentiation, and karnofsky performance score in Chinese glioma patients.
25700162 Activation of the NOTCH1 or 3 pathways has a major influence on airway basal cell differentiation into secretory and ciliated cells.
25668819 Notch3 plays a role in modulating the stemness of tumor cells via the inactivation of the Wnt/beta-catenin pathway.
25623805 Data showed new mutations in the Notch3 gene in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).
25622783 Results show that miR-483-5p expression level is up-regulated in polycystic ovary syndrome patients and inversely correlated with notch3 and MAPk3 levels and that Notch3 and MAPK3 are the direct targets of MIR483.
25604251 analysis of a novel cysteine-sparing NOTCH3 mutation (D80G) with a possible role in CADASIL [case report]
25595846 Case Report: novel notch3 mutations in family members with CADASIL.
25572698 Wnt3a and Notch3 may promote the metastasis of non-small cell lung cancer and Notch3 upregulation is required for the Wnt3a mediated increased metastatic abilities of non-small cell lung cancer.
25512616 Overexpression of Notch3 in medullary thyroid cancer cells can alter malignant neuroendocrine phenotype in both in vitro and in vivo models.
25431954 High Notch3 expression is associated with hepatocellular carcinoma.
25416974 Studies indicate that Notch3 gene has been found to induce cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
25412914 Description of the coexistence of autoimmunity in NOTCH3-mutated CADASIL patients with possible worsening clinical effects.
25394726 study identified heterozygous truncating mutations in the last coding exon of NOTCH3 in the lateral meningocele syndrome patients
25381438 Notch3 activation is sufficient but not required for inducing human T-lineage specification.
25368251 High notch3 expression is associated with laryngeal cancer.
25356737 majority of ovarian carcinomas harbored homozygous or heterozygous deletions in WWP2 locus, and there was an inverse correlation in the expression levels between WWP2 and Notch3 in ovarian carcinomas
25297585 Data suggest that heterozygous Cys1015Ser mutations in exon 19 of the NOTCH3 gene probably underlies the Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) in the family.
25260852 study broadens the spectrum of CADASIL mutations, and, therefore, opens new insights about Notch3 signaling
25171754 NOTCH3 regulates the cellular behavior, including, proliferation, marker to predict the chemotherapy response and prognosis of advanced NSCLC. marker to predict the chemotherapy response and prognosis of advanced NSCLC
25169943 Reduction of COL4A2 expression by RNAI-mediated knockdown induces cell death. Finally, elevated Notch3 expression levels correlate with higher COL4A2 expression in human ovarian tumor specimens
25150590 Results show that CADASIL arteries feature latent N-terminal NOTCH3 epitopes, suggesting the first evidence in vivo of NOTCH3 structural alterations
25105908 The NOTCH3 mutation spectrum in our group was diverse and consistent with those in Caucasians but differed from those in Korea and Taiwan.
25098330 By screening the entire coding region of NOTCH3, a novel missense mutation p.G149V (c.446G>T) was found.
25096610 This study showed that the new mutation of NOTCH3 gene in patients of CZDASIL.
24984200 results provide novel insights into the determinants of NOTCH3 overexpression in cancer cells, by revealing a key role for BORIS as the main mediator of transcriptional deregulation of NOTCH3
24905589 Notch-1 and Notch-3 may play an important role with synergistic effect of HPV in regulating development and proliferation of cervical cancer
24844136 This review discusses and provide recommendations for the interpretation of NOTCH3 mutations in the diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
24816653 Two novel mutations located in exons 6 and 15 of the NOTCH3 gene were found in two patients with suspected CADASIL.
24810798 Our findings indicate that Notch3 signaling, associated with MUC5AC expression, could be a more favorable prognostic factor in small intestinal adenocarcinoma.
24797362 These results strongly suggest that high levels of Notch3 activation increase the proliferative potential of RMS cells.
24788939 Data suggest that extracellular signal-regulated kinases ERK1/2 signaling can cross-interact with the transforming growth factor beta2/Smad2/3 and the Jagged-1/Notch-3 signaling in retinal pigment epithelium cells epithelial-mesenchymal transition.
24743243 Notch3 pathway alterations are prevalent and significantly related to poor clinical outcome in patients with ovarian cancer.
24728738 High nuclear Notch3 expression is associated with tumor recurrence in patients with stage II and III colorectal cancer.
24671051 Expression of Notch1, -2, and -3, CDK2, and CCNE1 was significantly decreased by upregulation of ALDH1A1 in A549 cells, but increased by its interruption in A549s cells.
24525742 NOTCH3 signaling regulates MUSASHI-1 expression in metastatic colorectal cancer cells.
24480794 Study demonstrated a pattern of cognitive deficits in Asian CADASIL patients with R544C mutation consistent with previous studies in Caucasian CADASIL patients
24367688 Notch3 plays a role in the cell proliferation and apoptosis induced by CHIR99021 in non-small-cell lung cancer cell lines.
24336671 A significant increase in Notch3 expression was found in the placentas from patients with early-onset preeclampsia.
24244701 Data show that microRNA-1 (miR-1) is down-regulated in colorectal tumors and that miR-1 has the potential to suppress NOTCH3 expression through direct binding to its 3'-UTR region.
24151014 NOTCH3 expression is decreased in the dorsolateral prefrontal cortex and amygdala from suicide victims compared to control brain.
24143218 the prognostic value and the oncogenic function of NOTCH3 in gliomagenesis
24139282 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the NOTCH3 gene on chromosome 19.
24138322 3D coculture induced an upregulation of Notch3 receptor in human coronary artery smooth muscle cells and its ligand Jagged1 in human coronary artery endothelial cells.
24086431 common NOTCH3 variants may be associated with risk of ischemic stroke warrants further study.
24041655 Notch3 activation activates nitric oxide/soluble guanylyl cyclase signalling in immortalized ovarian surface epithelial cells and ovarian cancer cells.
24026140 We report a comprehensive evaluation of several individuals in the CADASIL family whose member was identified to have the new mutation of NOTCH3 receptor on exon 6
23999936 the study describes novel NOTCH1-3 rearrangements in benign and malignant, visceral, and soft tissue glomus tumors
23975424 Par-4/THAP1 complex and Notch3 competitively regulated pre-mRNA splicing of CCAR1 and affected inversely the survival of T-cell acute lymphoblastic leukemia cells.
23847153 Migraine was found in only 3.8% of CADASIL patients with the R544C mutation.
23845442 Notch3 plays a nonredundant role in tumor cell propagation in two mouse models and in human non-small-cell lung cancer.
23836039 Findings suggest that Notch3 might be an important regulator in the development of HCC, and a potential therapeutic target for patients with HCC.
23773728 Notch3 mediates melanoma-endothelial cell communication and tumor cell migration.
23747483 Complexation of the Notch3 NRR with an inhibitory antibody retards deuteration not only across its discontinuous binding epitope but also around the S2 site.
23729168 Notch3 pathway represents a promising target for adjuvant therapy in patients with PC.
23649698 NOTCH3 aggregation in the brain vessels promotes abnormal recruitment of extracellular matrix proteins in CADASIL patients.
23649002 The NOTCH3 transcription factor is a master regulator of motility in neuroblastoma.
23645556 Studied Notch3 expression in NSCLC tissues and adjacent non-cancerous normal lung tissues over a period of 5 yrs. Notch3 had high expression in 67 of 131 cases of NSCLC, which was significantly higher than in adjacent noncancerous lung tissues.
23637910 Notch3 and Hes5 are hypermethylated in human B cell acute lymphoblastic leukemia (ALL).
23610446 Results reveal a novel function of Notch3 in senescence regulation and tumor suppression.
23602593 Homozygosity of the NOTCH3 p.R544C has a modestly deleterious effect on the cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
23587639 NOTCH3 mutations in the genetically undefined cases with CADASIL may be located deep in the introns.
23584202 NOTCH3 fragments are major components of granular osmiophilic material deposits in brain samples from CADASIL patients.
23572112 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy conforms to the classical definition of dominant diseases, according to which homozygotes and heterozygotes for the G528C NOTCH3 mutation are phenotypically indistinguishable.
23492684 hENT1 and Notch3 mRNA expressions in biopsy specimens were the key predictive biomarkers of gencitabine effect and gemcitabine sensitivity in patients with unresectable pancreatic ductal carcinoma.
23468978 hypothesize that targeting Notch1 may be more useful than Notch3 for designing novel preventive and therapeutic strategies for HCC in the near future
23465844 Case Report: clinical manifestations/pathologic alterations in subjects with NOTCH3 mutations giving rise to CADASIL.
23460375 Diagnosis is confirmed by genetic testing and the finding of the Notch3 mutation or by skin biopsy.
23444212 Data indicate that the expression of Notch-2 and Notch-4 receptors was higher in the GFP-bright population whereas Notch-1 and Notch-3 receptors were more expressed in GFP-dim population.
23412372 Parkinsonism is a late, not rare, feature of CADASIL: a study on Italian patients carrying the R1006C mutation
23319290 A novel NOTCH3 Gly89Cys mutation located in exon 3 was identified in a Serbian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
23314443 FAM172A may be a novel tumor-suppressor gene that plays an important role in cell cycle mediated, at least partially, by the Notch 3 signaling pathway.
23226563 These data further support a central role for Notch signalling in pancreatic cancer and suggest that nuclear expression of Notch3 and its target gene, HEY-1, merit validation in biomarker panels for diagnosis, prognosis and treatment efficacy.
23036509 Cellular and mitochondrial function in vascular smooth muscle cell lines (VSMCs) established from CADASIL mutation carriers (R133C) and healthy controls.
23028706 CADASIL mutants of NOTCH3 complex with NOTCH1, 3, and 4, slow NOTCH3 clearance, and that overexpressed wild type and mutant NOTCH3 protein interfere with key NOTCH-mediated functions in smooth muscle cells
23019585 Our study suggests important clinical applications for targeting Notch as part of novel treatment strategies upon diagnosis of ovarian cancer and at recurrence
23010708 Notch3 expression may be related to chemoresistance and the Notch3 pathway may represent a novel therapeutic target for advanced stage chemoresistant ovarian cancer.
22948298 CADASIL mutations and shRNA silencing of NOTCH3 affect actin organization in cultured vascular smooth muscle cells.
22806125 Notch-3 receptor activation drives inflammation and fibrosis following tubulointerstitial kidney injury.
22705236 Down-regulation of Notch1 and Notch3 in two hepatocellular carcinoma cell lines resulted in Hes1 down-regulation, CDKN1C/P57 up-regulation, and reduced cell growth.
22691042 Immunohistochemistry showed a reverse correlation between MUC2 and Notch3 or Jagged1 (P = 0.033 and P = 0.005, respectively) and between MUC5AC and Jagged1 or Hes1
22664156 study added on to the genetic heterogeneity of CADASIL by describing 21 NOTCH3 mutations identified in 53 index Italian patients; also characterized the NOTCH3 haplotypes to investigate possible influences of the genetic background on the recurrence of mutations
22623959 Members of a 5-generational Han Chinese family with CADASIL patients had an R133C mutation in the NOTCH3 gene but only individuals exposed to known vascular risk factors developed CADASIL.
22526456 immunohistochemical analysis of NOTCH1-3, JAGGED1, cMET, and phospho-MAPK in 100 carcinomas of unknown primary
22493555 Data suggest that Notch3 may regulate the activation of hepatic stellate cells, and the selective interruption of Notch3 may provide an anti- fi brotic strategy in hepatic fi brosis.
22422895 In an outbred Western European population of patients with CADASIL in the northeast of England, most NOTCH3 mutations are in exon 4.
22396495 Findings define direct target genes of NOTCH3 and highlight the role of DLGAP5 in mediating the function of NOTCH3 in ovarian cancer.
22373597 Three novel mutations in NOTCH3 in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
22367839 Amyotrophic lateral sclerosis, frontotemporal lobe degeneration and cerebral dominant arteriopathy with subcortical infarcts and leukoencephalopathy are reported in a family with NOTCH3 mutation.
22310065 Report down-regulation of Notch signaling components NOTCH3 and HEY2 in abdominal aortic aneurysms.
22292737 Notch3 mutation precipitates age-related pericytic degeneration that might result in cellular injury and trigger autophagic apoptosis.
22218279 CADASIL mutation and Balo concentric sclerosis: a link between demyelination and ischemia.
22204979 Both Notch3 and vascular smooth muscle cells differentiation marker proteins were upregulated, which were abrogated by Jagged1-specific siRNA.
22159056 NOTCH3 mutation is the longest duplication yet and 1st reported case in african-american with CADASIL
22153900 Whole exome sequencing in a Turkish patient clinically diagnosed with Alzheimer's disease from a consanguineous family reveals a complex history of neurological and immunological disorders and identifies a mutation in NOTCH3 (p.R1231C).
22153798 Notch3 is expressed at a higher level in non-functioning pituitary adenomas than in normal human pituitary tissue.
22133740 NOTCH3 gene mutations are frequently found in Korean acute stroke patients who present with neuroimaging features consistent with advanced small-vessel disease.
22120716 acetylation/deacetylation balance represents a regulatory switch of Notch3 signaling, providing the molecular basis for the pharmacological use of HDACi in human T-ALL treatment.
22117196 Inhibition of Notch3 signalling induces rhabdomyosarcoma cell differentiation promoting p38 phosphorylation and p21(Cip1) expression and hampers tumour cell growth in vitro and in vivo.
22082899 clinical and neuroradiological findings of 2 subjects of two unrelated Japanese families who shared a common p.Arg332Cys mutation
22079830 ese results indicated that the process of degradation of mutant N3ECD on the cell surface is disturbed due to impairment of transendocytosis
22079340 This study revealed the NOTCH3 R1006C mutation has several peculiarities that may condition clinical course of CADASIL.
22006983 common variants at the NOTCH3 gene increase the risk of age-related white matter lesions in hypertensives.
21951372 This review discusses mutations in several genes that lead to monogenic disorders manifesting white matter lesions, such as CADASIL.
21940951 Notch3 Arg170Cys knock-in mice display pathologic and clinical features of the neurovascular disorder cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
21940234 Results indicate that inhibition of Notch3 expression can result in potent antitumor activity in T-cell acute lymphoblastic leukemia (T-ALL).
21920521 HGF induces vascular smooth muscle cell osteogenic differentiation via c-Met/Akt/Notch3 signalling, highlighting these pathways as potential targets for intervention of vascular calcification.
21890822 NOTCH3-mediated signaling prevents expansion of a unique subset of ZEB-expressing cells.
21852154 Our data demonstrate the diversity of clinical stroke presentation according to ethnicity and vascular risk factors in Korean CADASIL patients.
21743488 Data show that HER2 overexpression enhances Notch3 promoter activity in mammary epithelial cells.
21726900 The receptors Notch2, -3, -4 and their ligands Jagged1, -2 and Delta1, -4 were detected at both the mRNA and protein level in early and late placenta
21705670 Endothelial cells downregulate apolipoprotein D expression in mural cells through paracrine secretion and Notch3 signaling.
21702048 data support the expression of Notch3 in adult cell types, and suggests that PBLs and fibroblasts could provide readily available cells for the study of the role of Notch3 expression in pathogenetic mechanisms
21673954 HCV NS3 protein is involved in the activation of the Notch-signaling pathway through the targeting to both SRCAP and p400
21628316 Spontaneous aggregation is limited to CADASIL-mutant N3, recapitulating a central aspect of CADASIL pathology in vitro.
21616505 Data confirm the importance of screening the whole epidermal growth factor (EGF)-like domains region of NOTCH3 for the molecular diagnosis of CADASIL among the Italian population.
21602525 The stromal cell-mediated antiapoptotic effect on B- ALL cells is mediated by Notch-3 and -4 or Jagged-1/-2 and DLL-1 in a synergistic manner.
21551231 Data suggest that control of NOTCH3 expression through miR-150 may have important impact on T-cell development and physiology. NOTCH3 expression in T-cells in acute lymphoblastic leukemia appears to be regulated by miR-150.
21508102 MUC16 biosynthesis is posttranscriptionally regulated by Notch signaling at early stages of epithelial cell differentiation, suggesting that Notch activation contributes to maintaining a mucosal phenotype at the ocular surface
21471519 Data show that Notch1 to -3 may have potential use as a strong prognostic fact
21409506 A missense mutation involving exon 24 of NOTCH3/CADASIL causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
21245095 Results highlight the differential ability of Notch receptor paralogs to initiate malignant tumor formation, and suggest that glial precursors of the optic nerve, but not the brain, are susceptible to transformation by Notch3.
21217157 An inherited pattern of cord lesions in association with CADASIL is caused by a novel NOTCH3 missense mutation, C212Y.
21169401 The physiological role of Notch3 may be in mediating developmental maturation of vascular smooth muscle cells.
21124806 Data show no detectable difference in the DNA binding site preferences of CSL before and after loading of four different Notch receptors and MAML1 proteins.
21118965 Data show that shRNA against NOTCH3 resulted in a significant decrease in ALDH(+) lung cancer cells, commensurate with a reduction in tumor cell proliferation and clonogenicity.
21103979 Results suggest that common variants in NOTCH3 are not strongly associated with diabetic nephropathy in type 1 diabetes among white individuals. Findings cannot exclude these genes from involvement in the pathogenesis of diabetic nephropathy.
21078731 The Notch3 gene encodes a transmembrane surface protein that plays a major role in cellular signaling pathways that depend on cellular context in a tissue-specific manner. It is primarily expressed in vascular smooth vessel cells.
20935329 mutational spectrum and primary clinical features of patients with CADASIL from mainland China
20819128 The expression Notch3 protein in tongue carcinoma was higher than adjacent non-neoplastic tongue tissues. Expression of Notch3 and Jagged2 were highly correlated in tongue carcinoma tissues.
20813781 Further investigation of the G684A variant and the Notch 3 gene is warranted to understand their role in migraine.
20813781 Observational study of gene-disease association. (HuGE Navigator)
20801121 the cross talk of N3 with N1 during differentiation provides novel, mechanistic insights into Notch signaling and esophageal squamous epithelial biology
20689064 Notch3 is important for the investment of mural cells and is a critical regulator of developmental and pathological blood vessel formation
20671266 Notch3 pathway activation reprograms tumor cells to assume an array of embryonic stem cell markers and participates in development of chemoresistance in ovarian high-grade serous carcinoma.
20651241 our results suggest that enhanced Notch3 expression in breast cancer cells, triggered by osteoblasts and their secretion of TGFbeta1 in the bone marrow niche, may stand as a novel mechanism for promoting bone metastasis.
20634891 Observational study of gene-disease association. (HuGE Navigator)
20628624 Meta-analysis of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20624166 Results indicate that the Notch 3 signaling pathway is involved in the tumor progression of ovarian serous carcinoma.
20614134 Notch3 activation cooperatively takes part in the LiCl-induced cell cycle changes, at least partially, associated with c-MYC, Skp2 and p21.
20554499 Notch3 receptors and their ligands play differential roles in the cytodifferentiation of squamous odontogenic tumors of the mandible.
20472562 LRP1 and TSP2 stimulate Notch activity by driving trans-endocytosis of the Notch ectodomain into the signal-sending cell
20359736 Patients with cervical carcinomas with Notch3 expression had shorter survival than those whose tumors did not express nuclear Notch3. Inactivation of Notch3 decreased cell proliferation and induced apoptosis in cell lines that overexpressed Notch3.
20329594 a case of CADASIL who presented with migrainous headache, behavioral disorder, and familial history of stroke characteristic white matter lesions and a mutation in the NOTCH 3 gene.
20169447 Here we report clinical and molecular data of 18 CADASIL patients from 10 unrelated families with exon 10 mutations. The phenotypic spectrum included a high frequency of psychiatric symptoms (12/18) and peripheral vascular involvement (6/18).
20167921 Observational study of gene-disease association. (HuGE Navigator)
20069356 The pattern of Notch gene expression mirrors the progression from immature cells to endothelial-lined vascular channels (i.e., endothelial differentiation) that characterizes the growth and involution of infantile hemangioma.
20040020 Notch signaling may participate in controlling cell differentiation and proliferation in normal bone and COF of the jaws. Notch signaling disorder may be a molecular incident in COF occurrence and development.
20038773 CADASIL was diagnosed in 16/81 (20%) probands by finding a mutation leading to a cysteine substitution within the epidermal growth factor (EGF)-like repeats of the NOTCH3 receptor
19913121 Observational study of gene-disease association. (HuGE Navigator)
19881544 provide evidence that Notch3 regulates Bim, a BH-3-only protein, via MAPK signaling.
19859875 Observational study of gene-disease association. (HuGE Navigator)
19855400 this study demonstrated that high steady-state levels of NOTCH3 are associated with the development of PAH in humans and that Notch3 expression is required for the development of pulmonary hypertension in two experimental models of this disease
19835636 MSX2 activates NOTCH3-signaling in leukemic T-cells.
19825845 These findings suggest that prolonged retention of mutant Notch3 aggregates in the endoplasmic reticulum decreases cell growth and increases sensitivity to other stresses.
19816816 Notch3-specific siRNA suppressed Notch3 expression & increased gemcitabine-induced, caspase-mediated apoptosis. PI3K/Akt activity was decreased by the suppression of Notch3 expression.
19735738 critical role for lysosomes in the degradation
19603167 Notch3 expression were elevated in immune thrombocytopenic purpura.
19576955 we report the high recurrence of R1006C NOTCH3 mutation in ten families all originate from a restricted area of central Italy
19417009 CADASIL-associated mutations significantly enhance multimerization of NOTCH3.
19404845 The levels of expression of Notch2 and Notch3 were minimally detected in renal cell carcinoma tumours and non-neoplastic tissues
19373490 MTHFR C677T, ALOX5AP T2354A and NOTCH3 C381T were significant combinational contributors to thrombotic stroke.
19372454 study describes differences in clinical phenotype in a pair of monozygotic CADASIL twins; causative NOTCH3 mutation was a novel c.752G>A -substitution (p.Cys251Tyr); findings suggest environmental & lifestyle factors influence clinical course of CADASIL
19293235 Results highlight distinguishing functional and phenotypic features of CADASIL mutations in the Notch3 ligand-binding domain.
19242647 A population-specific mutational spectrum of CADASIL was found in the Chinese patients on Taiwan. The Chinese patients carrying NOTCH3 R544C may descend from a common ancestor.
19242647 Observational study of gene-disease association. (HuGE Navigator)
19208840 Escape of human T-cell acute lymphoblastic leukemia cells from dormancy is associated with Dll4 expression.
19174371 Granular osmiophilic material was detected in the skin biopsy of all 131 patients, in whom the NOTCH3 mutation had been identified and a representative skin biopsy was available.
19167727 exon 3 and exon 4 of the NOTCH3 gene are the mutation hotspots in Mainland Chinese cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) patients
19150886 NOTCH3 expression is induced in mural cells through an autoregulatory loop that requires endothelial-expressed JAGGED1.
19139365 Observational study of gene-disease association. (HuGE Navigator)
19056668 We used Conventional MRI and NOTCH3 gene screening in sporadic CADASIL. We found 13% of Cadasil patients carried a Notch3 mutation.
19054571 Observational study of gene-disease association. (HuGE Navigator)
19043263 R75P mutation is reported in two Japanese CADASIL families not directly involving cysteine residues located within the first epidermal growth factor (EGF)-like repeats.
19018300 Observational study of gene-disease association. (HuGE Navigator)
19006080 analyzed the NOTCH3 gene in a large group of CADASIL patients, and identified 20 different mutations, 22 polymorphisms, and 8 genetic variants of unknown pathological significance never reported previously
19006080 Observational study of gene-disease association. (HuGE Navigator)
18974129 findings indicate that Pbx1 is a direct Notch3-regulated gene that mediates the survival signal of Notch3 in ovarian cancer
18948701 there could be a relation between right-to-left shunt and specific Notch3 mutations, such as Arg141Cys.
18941948 Patient with clinical features of CADASIL and a positive family history who was a carrier of a new mutation at the exon 4 of the NOTCH3 gene: C162R.
18765654 cysteine-sparing mutation (A1020P) in association with a CADASIL-compatible phenotype in two German families.
18758477 Relationships between the structural differences & the nonredundant roles that Notch3 plays in the pathogenesis of cerebral autosomal-dominant arteriopathy with subcortical infarcts & leukoencephalopathy are reviewed. Review.
18632624 Jagged-1 is the primary Notch3 ligand in ovarian carcinoma and Jagged-1/Notch3 interaction constitutes a juxtacrine loop promoting proliferation and dissemination of ovarian cancer cells within the intraperitoneal cavity
18626519 CADASIL in Arabs without Notch 3 mutation.
18572291 The presence of GOM strongly suggests that renal lesions were related to the NOTCH3 mutation.
18499132 NOTCH3 analysis disclosed a new missense mutation within exon 7, leading to the substitution of cysteine 366 with a tryptophan (Cys366Trp) in CADSIL patient.
18483410 PDGF receptor (PDGFR)-beta is a novel immediate Notch target gene. PDGFR-beta expression was upregulated by Notch ligand induction or by activated forms of the Notch receptor; dysregulated Notch signaling perturbs VSMC differentiation and function.
18339869 NOTCH3-mediated signaling rather than NOTCH1-mediated signaling plays an important role in the proliferation of ErbB2-negative breast tumor cells.
18184405 NOTCH2, NOTCH3 and NOTCH4 genes are rarely mutated in common human cancers.
18075987 Observational study of gene-disease association. (HuGE Navigator)
18069660 we conclude that in the ectatic ducts of CP, PDH activates signalling pathways such as Notch, which have transforming potential.
18060036 IL-6 treatment triggered Notch-3-dependent upregulation of the Notch ligand Jagged-1 and promotion of MS and MCF-7-derived spheroid growth
18022198 We report for the first time a mutation on exon 21 of the NOTCH3 gene that leads to a cysteine substitution in the EGF-like repeat 29 of the NOTCH3 receptor extracellular domain, and that causes CADASIL in a functionally independent elderly man.
17996090 Positive MRI findings in asymptomatic individuals or in-patients who presented with depression or a psychiatric problem indicated that NOTCH3 gene signalling may start early and may have different clinical presentations
17939118 Rgs5 and Notch3 are expressed in pericytes of developing and injured teeth and have roles along with vascular-derived stem cells during pulp healing
17920003 Cytoplasmic expression of Notch 3 receptors was detected and Notch signaling might be involved in development of hepatocellular carcinoma.
17878719 In CADASIL patients, Notch3 mutations were associated with mitochondrial disease, particularly affecting the skeletal muscle.
17854869 This review focuses on recent findings of Notch3 in vascular development and in regulating vascular smooth muscle cell behavior and phenotype.
17853970 Results describe a Spanish family reported with CADASIL, caused by the 346C > T mutation in NOTCH3 gene.
17822871 Notch3 promotes cell growth and survival by activating PI3-kinase/AKT pathway; N-cadherin participates in the change of cell growth caused by Notch3 activation; and Notch3 signalling has dual-effects on the Wnt/TCF pathway.
17822320 Overexpression of notch3 is associated with breast cancer
17804716 Notch pathway plays an important role in lung cancer biology.
17696940 Suggest an aberrant expression of Notch3 and Notch4 in HCC and allow the hypothesis of an activation of Notch signalling by Notch3.
17690848 This study describe the genetical, clinical,neuropsychological and neuroimaging findings in an Italian CADASIL patient with a rare mutation in exon 10 leading to a Gly528Cys substitution.
17573339 NOTCHES N1, N2, and N3 all bound to FIH; results suggest the possibility that Notch ICDs are FIH substrates.
17390743 Genetic analysis of Notch3 revealed an R141C missense mutation and she was diagnosed with CADASIL complicated with IgA nephropathy.
17331978 A model that invokes novel pathogenic roles for the mutant NOTCH3 protein rather than compromised NOTCH3 function as the primary determinant of the CADASIL arteriopathy.
17301032 with supervised resistance exercise training, expression of Notch1 and Hes6 genes were increased and Delta-like 1 and Numb expression were decreased.
17292860 Role for the conserved N-terminal sequence of Notch3: targeting of the protein to the secretory pathway and reduction of cytoplasmic Notch3 expression which may inhibit cytoplasmic functions.
17158237 Notch-3 expression is dysregulated in breast cancer.
16998728 Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene.
16899352 Observational study of gene-disease association. (HuGE Navigator)
16833034 The defective gene in CADASIL is Notch 3, which encodes a large transmembrane receptor.
16807713 Our results show that mtDNA sequence variation is increased within CADASIL pedigrees. These findings suggest a relationship between NOTCH3 and mtDNA.
16796587 a 44-year-old patient with clinical features of CADASIL who was a carrier of a new Notch3 mutation: cys128-->gly.
16717210 The novel Korean mutation of R75P, not involving a cysteine residue, is related to less frequent involvement of the anterior temporal area, thus broadening the spectrum of CADASIL.
16492242 Observational study of gene-disease association. (HuGE Navigator)
16492242 Findings support the view that functional polymorphism T6746C in Notch3 gene is not involved in increasing the risk of migraine or migraine subtypes.
16426270 Observational study of gene-disease association. (HuGE Navigator)
16107360 subtle abnormalities seen in furin processing of mutant Notch3 receptor, although both heterodimeric and full length receptors are present on cell surface, are capable of interacting with soluble forms of three ligands, and retain ability to activate CBF1
16009764 Observational study of genotype prevalence. (HuGE Navigator)
15987768 Notch promotes changes in hVSMC phenotype via activation of CBF-1/RBP-Jkappa-dependent pathways in vitro and contributes to the phenotypic response of VSMCs to cyclic strain-induced changes in VSMC differentiation.
15694192 Our findings emphasize the importance of genetic analysis of NOTCH3 for Asians with a phenotype typical of CADASIL.
15378071 The mutation in position 133 (R133C) of the NOTCH3 gene, which maps to 19p13.1, is found in Finnish families with CADASIL.
15304596 This 12-bp deletion in the extracellular domain mutation is the first CADASIL-associated Notch3 mutation not involving a cysteine residue in the EGF-like repats.
15096408 Acute visual loss due to nonarteritic anterior ischemic optic neuropathy (NAION) has not previously been reported in CADASIL (heterozygotes for the C406T mutation on exon 3 of the Notch3 gene).
14767686 This is the first missense mutation in codon 1006 of exon 19 of the Notch3 gene to be described in Italy and the second reported in the literature.
12810003 Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis.
12678157 Notch 3 gene is responsible for CADASIL among patients of different ethncis.
12511775 Observational study of gene-disease association. (HuGE Navigator)
12480758 Observational study of gene-disease association. (HuGE Navigator)
12480758 Polymorphism is not associated with cerebrovascular disease in Japanese patients.
12210282 Notch3 does not appear to be a candidate gene for BPD in this family.
11978185 Notch signalling involved in differentiation of normal adult human epidermis is altered under experimental conditions and pathologies which modify this program.
11891328 Combined expression of pTalpha and Notch3 in T cell leukemia identifies the requirement of preTCR for leukemogenesis
11861701 Observational study of gene-disease association. (HuGE Navigator)
11861701 Results indicate that T6746C polymorphism in the intracellular domain of the Notch3 gene is not associated with increased risk for CVDD.
11032621 Observational study of genetic testing. (HuGE Navigator)

AA Sequence

MGPGARGRRRRRRPMSPPPPPPPVRALPLLLLLAGPGAAAPPCLDGSPCANGGRCTQLPSREAACLCPPG      1 - 70
WVGERCQLEDPCHSGPCAGRGVCQSSVVAGTARFSCRCPRGFRGPDCSLPDPCLSSPCAHGARCSVGPDG     71 - 140
RFLCSCPPGYQGRSCRSDVDECRVGEPCRHGGTCLNTPGSFRCQCPAGYTGPLCENPAVPCAPSPCRNGG    141 - 210
TCRQSGDLTYDCACLPGFEGQNCEVNVDDCPGHRCLNGGTCVDGVNTYNCQCPPEWTGQFCTEDVDECQL    211 - 280
QPNACHNGGTCFNTLGGHSCVCVNGWTGESCSQNIDDCATAVCFHGATCHDRVASFYCACPMGKTGLLCH    281 - 350
LDDACVSNPCHEDAICDTNPVNGRAICTCPPGFTGGACDQDVDECSIGANPCEHLGRCVNTQGSFLCQCG    351 - 420
RGYTGPRCETDVNECLSGPCRNQATCLDRIGQFTCICMAGFTGTYCEVDIDECQSSPCVNGGVCKDRVNG    421 - 490
FSCTCPSGFSGSTCQLDVDECASTPCRNGAKCVDQPDGYECRCAEGFEGTLCDRNVDDCSPDPCHHGRCV    491 - 560
DGIASFSCACAPGYTGTRCESQVDECRSQPCRHGGKCLDLVDKYLCRCPSGTTGVNCEVNIDDCASNPCT    561 - 630
FGVCRDGINRYDCVCQPGFTGPLCNVEINECASSPCGEGGSCVDGENGFRCLCPPGSLPPLCLPPSHPCA    631 - 700
HEPCSHGICYDAPGGFRCVCEPGWSGPRCSQSLARDACESQPCRAGGTCSSDGMGFHCTCPPGVQGRQCE    701 - 770
LLSPCTPNPCEHGGRCESAPGQLPVCSCPQGWQGPRCQQDVDECAGPAPCGPHGICTNLAGSFSCTCHGG    771 - 840
YTGPSCDQDINDCDPNPCLNGGSCQDGVGSFSCSCLPGFAGPRCARDVDECLSNPCGPGTCTDHVASFTC    841 - 910
TCPPGYGGFHCEQDLPDCSPSSCFNGGTCVDGVNSFSCLCRPGYTGAHCQHEADPCLSRPCLHGGVCSAA    911 - 980
HPGFRCTCLESFTGPQCQTLVDWCSRQPCQNGGRCVQTGAYCLCPPGWSGRLCDIRSLPCREAAAQIGVR    981 - 1050
LEQLCQAGGQCVDEDSSHYCVCPEGRTGSHCEQEVDPCLAQPCQHGGTCRGYMGGYMCECLPGYNGDNCE   1051 - 1120
DDVDECASQPCQHGGSCIDLVARYLCSCPPGTLGVLCEINEDDCGPGPPLDSGPRCLHNGTCVDLVGGFR   1121 - 1190
CTCPPGYTGLRCEADINECRSGACHAAHTRDCLQDPGGGFRCLCHAGFSGPRCQTVLSPCESQPCQHGGQ   1191 - 1260
CRPSPGPGGGLTFTCHCAQPFWGPRCERVARSCRELQCPVGVPCQQTPRGPRCACPPGLSGPSCRSFPGS   1261 - 1330
PPGASNASCAAAPCLHGGSCRPAPLAPFFRCACAQGWTGPRCEAPAAAPEVSEEPRCPRAACQAKRGDQR   1331 - 1400
CDRECNSPGCGWDGGDCSLSVGDPWRQCEALQCWRLFNNSRCDPACSSPACLYDNFDCHAGGRERTCNPV   1401 - 1470
YEKYCADHFADGRCDQGCNTEECGWDGLDCASEVPALLARGVLVLTVLLPPEELLRSSADFLQRLSAILR   1471 - 1540
TSLRFRLDAHGQAMVFPYHRPSPGSEPRARRELAPEVIGSVVMLEIDNRLCLQSPENDHCFPDAQSAADY   1541 - 1610
LGALSAVERLDFPYPLRDVRGEPLEPPEPSVPLLPLLVAGAVLLLVILVLGVMVARRKREHSTLWFPEGF   1611 - 1680
SLHKDVASGHKGRREPVGQDALGMKNMAKGESLMGEVATDWMDTECPEAKRLKVEEPGMGAEEAVDCRQW   1681 - 1750
TQHHLVAADIRVAPAMALTPPQGDADADGMDVNVRGPDGFTPLMLASFCGGALEPMPTEEDEADDTSASI   1751 - 1820
ISDLICQGAQLGARTDRTGETALHLAARYARADAAKRLLDAGADTNAQDHSGRTPLHTAVTADAQGVFQI   1821 - 1890
LIRNRSTDLDARMADGSTALILAARLAVEGMVEELIASHADVNAVDELGKSALHWAAAVNNVEATLALLK   1891 - 1960
NGANKDMQDSKEETPLFLAAREGSYEAAKLLLDHFANREITDHLDRLPRDVAQERLHQDIVRLLDQPSGP   1961 - 2030
RSPPGPHGLGPLLCPPGAFLPGLKAAQSGSKKSRRPPGKAGLGPQGPRGRGKKLTLACPGPLADSSVTLS   2031 - 2100
PVDSLDSPRPFGGPPASPGGFPLEGPYAAATATAVSLAQLGGPGRAGLGRQPPGGCVLSLGLLNPVAVPL   2101 - 2170
DWARLPPPAPPGPSFLLPLAPGPQLLNPGTPVSPQERPPPYLAVPGHGEEYPAAGAHSSPPKARFLRVPS   2171 - 2240
EHPYLTPSPESPEHWASPSPPSLSDWSESTPSPATATGAMATTTGALPAQPLPLSVPSSLAQAQTQLGPQ   2241 - 2310
PEVTPKRQVLA                                                              2311 - 2321
//

Text Mined References (293)

PMID Year Title
27455010 2016 [Study of a CADASIL family with migraine as the presenting symptom].
26977885 2016 Protein Kinase C? Drives a NOTCH3-dependent Stem-like Phenotype in Mutant KRAS Lung Adenocarcinoma.
26912635 2016 Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept.
26858125 2016 Self-renewal of CD133(hi) cells by IL6/Notch3 signalling regulates endocrine resistance in metastatic breast cancer.
26838758 2016 Evaluation of role of Notch3 signaling pathway in human lung cancer cells.
26715087 2015 The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation.
26640406 2015 Effects of Notch2 and Notch3 on Cell Proliferation and Apoptosis of Trophoblast Cell Lines.
26308724 2015 Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles.
26270344 2015 R54C Mutation of NOTCH3 Gene in the First Rungus Family with CADASIL.
26051713 2015 Insights into Autoregulation of Notch3 from Structural and Functional Studies of Its Negative Regulatory Region.
26002683 2015 NOTCH3 variants in patients with subcortical vascular cognitive impairment: a comparison with typical CADASIL patients.
25982499 2015 The genetic spectrum and the evaluation of CADASIL screening scale in Chinese patients with NOTCH3 mutations.
25957400 2015 Differential Regulation of NOTCH2 and NOTCH3 Contribute to Their Unique Functions in Vascular Smooth Muscle Cells.
25953367 2015 Common NOTCH3 Variants and Cerebral Small-Vessel Disease.
25870235 2015 Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy.
25864518 2015 HES6 promotes prostate cancer aggressiveness independently of Notch signalling.
25846406 2015 Notch receptor expression in human brain arteriovenous malformations.
25807436 2015 The histone deacetylase SIRT6 inhibits ovarian cancer cell proliferation via down-regulation of Notch 3 expression.
25738469 2015 NOTCH3 gene polymorphism is associated with the prognosis of gliomas in Chinese patients.
25700162 2015 Activation of NOTCH1 or NOTCH3 signaling skews human airway basal cell differentiation toward a secretory pathway.
25668819 2015 Notch3 functions as a regulator of cell self-renewal by interacting with the ?-catenin pathway in hepatocellular carcinoma.
25623805 2015 New mutations in the Notch3 gene in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).
25622783 2015 Characterization of microRNA profile in human cumulus granulosa cells: Identification of microRNAs that regulate Notch signaling and are associated with PCOS.
25604251 2015 Cysteine-sparing CADASIL mutations in NOTCH3 show proaggregatory properties in vitro.
25595846 2015 CADASIL with a novel NOTCH3 mutation (Cys478Tyr).
25572698 2015 Wnt3a increases the metastatic potential of non-small cell lung cancer cells in vitro in part via its upregulation of Notch3.
25512616 2015 Tumor-suppressor role of Notch3 in medullary thyroid carcinoma revealed by genetic and pharmacological induction.
25468996 2014 E-cadherin interactome complexity and robustness resolved by quantitative proteomics.
25431954 2014 Suppression of p53 by Notch3 is mediated by Cyclin G1 and sustained by MDM2 and miR-221 axis in hepatocellular carcinoma.
25416974 2015 Notch signaling and ageing.
25412914 2014 CADASIL and autoimmunity: coexistence in a family with the R169C mutation at exon 4 of the NOTCH3 gene.
25394726 2015 Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.
25381438 2014 Notch3 activation is sufficient but not required for inducing human T-lineage specification.
25368251 2014 Protein and mRNA expression of notch pathway components in operable tumors of patients with laryngeal cancer.
25356737 2014 Notch3 interactome analysis identified WWP2 as a negative regulator of Notch3 signaling in ovarian cancer.
25297585 2014 [Identification of a novel NOTCH3 mutation in a family featuring cerebral autosomal dominant arteriopathy with subcortical infarct and leucoencephalopathy].
25260852 2015 Hypomorphic NOTCH3 mutation in an Italian family with CADASIL features.
25171754 2014 Notch 3 protein, not its gene polymorphism, is associated with the chemotherapy response and prognosis of advanced NSCLC patients.
25169943 2015 Notch3 overexpression promotes anoikis resistance in epithelial ovarian cancer via upregulation of COL4A2.
25150590 2014 Latent NOTCH3 epitopes unmasked in CADASIL and regulated by protein redox state.
25105908 2015 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Phenotypic and mutational spectrum in patients from mainland China.
25098330 2014 A novel cysteine-sparing NOTCH3 mutation in a Chinese family with CADASIL.
25096610 2015 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) associated with a novel C82R mutation in the NOTCH3 gene.
24984200 2014 The epigenetic factor BORIS/CTCFL regulates the NOTCH3 gene expression in cancer cells.
24905589 2014 Clinical impact of de-regulated Notch-1 and Notch-3 in the development and progression of HPV-associated different histological subtypes of precancerous and cancerous lesions of human uterine cervix.
24844136 2014 Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
24816653 2014 Mutational screening of NOTCH3 gene reveals two novel mutations: complexity of CADASIL diagnosis.
24810798 2014 Notch3 signaling is associated with MUC5AC expression and favorable prognosis in patients with small intestinal adenocarcinomas.
24797362 2014 Hyper-activation of Notch3 amplifies the proliferative potential of rhabdomyosarcoma cells.
24788939 2014 The complex interplay between ERK1/2, TGF?/Smad, and Jagged/Notch signaling pathways in the regulation of epithelial-mesenchymal transition in retinal pigment epithelium cells.
24743243 2014 Notch3 pathway alterations in ovarian cancer.
24728738 2014 Nuclear Notch3 expression is associated with tumor recurrence in patients with stage II and III colorectal cancer.
24671051 2014 ALDH maintains the stemness of lung adenoma stem cells by suppressing the Notch/CDK2/CCNE pathway.
24525742 2014 NOTCH3 signaling regulates MUSASHI-1 expression in metastatic colorectal cancer cells.
24480794 2014 Cognitive profile of CADASIL patients with R544C Notch3 mutation.
24367688 2013 The roles of Notch3 on the cell proliferation and apoptosis induced by CHIR99021 in NSCLC cell lines: a functional link between Wnt and Notch signaling pathways.
24336671 2014 Expression of notch family proteins in placentas from patients with early-onset severe preeclampsia.
24244701 2013 The miR-1-NOTCH3-Asef pathway is important for colorectal tumor cell migration.
24151014 2014 Abnormal expression pattern of Notch receptors, ligands, and downstream effectors in the dorsolateral prefrontal cortex and amygdala of suicidal victims.
24143218 2013 NOTCH3 is a prognostic factor that promotes glioma cell proliferation, migration and invasion via activation of CCND1 and EGFR.
24139282 2014 Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
24138322 2014 Regulation of vascular smooth muscle cell phenotype in three-dimensional coculture system by Jagged1-selective Notch3 signaling.
24129315 2014 Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
24086431 2013 NOTCH3 variants and risk of ischemic stroke.
24041655 2013 Notch activation augments nitric oxide/soluble guanylyl cyclase signaling in immortalized ovarian surface epithelial cells and ovarian cancer cells.
24026140 2013 Clinical spectrum in CADASIL family with a new mutation.
24000151 2013 Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.
23999936 2013 Novel MIR143-NOTCH fusions in benign and malignant glomus tumors.
23975424 2013 Par-4/THAP1 complex and Notch3 competitively regulated pre-mRNA splicing of CCAR1 and affected inversely the survival of T-cell acute lymphoblastic leukemia cells.
23847153 2014 Headache among CADASIL patients with R544C mutation: prevalence, characteristics, and associations.
23845442 2013 A rare population of CD24(+)ITGB4(+)Notch(hi) cells drives tumor propagation in NSCLC and requires Notch3 for self-renewal.
23836039 2013 Aberrant expression of Notch3 predicts poor survival for hepatocellular carcinomas.
23773728 2013 Notch signaling mediates melanoma-endothelial cell communication and melanoma cell migration.
23747483 2013 Insights into Notch3 activation and inhibition mediated by antibodies directed against its negative regulatory region.
23731542 2013 Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
23729168 2013 Notch3 is activated by chronic hypoxia and contributes to the progression of human prostate cancer.
23649698 2013 Abnormal recruitment of extracellular matrix proteins by excess Notch3 ECD: a new pathomechanism in CADASIL.
23649002 2013 A NOTCH3 transcriptional module induces cell motility in neuroblastoma.
23645556 2013 Notch3 overexpression associates with poor prognosis in human non-small-cell lung cancer.
23637910 2013 Epigenetic inactivation of Notch-Hes pathway in human B-cell acute lymphoblastic leukemia.
23610446 2013 Notch3 functions as a tumor suppressor by controlling cellular senescence.
23602593 2013 A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain.
23587639 2013 First deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL.
23584202 2013 Brain microvascular accumulation and distribution of the NOTCH3 ectodomain and granular osmiophilic material in CADASIL.
23572112 2013 "CADASIL coma" in an Italian homozygous CADASIL patient: comparison with clinical and MRI findings in age-matched heterozygous patients with the same G528C NOTCH3 mutation.
23492684 2013 Human equilibrative nucleoside transporter 1 and Notch3 can predict gemcitabine effects in patients with unresectable pancreatic cancer.
23468978 2013 The significance of Notch1 compared with Notch3 in high metastasis and poor overall survival in hepatocellular carcinoma.
23465844 2013 Unusual clinical presentations in subjects carrying novel NOTCH3 gene mutations.
23460375 2013 Genetically proven cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a 3-year-old.
23444212 2013 Notch pathway activity identifies cells with cancer stem cell-like properties and correlates with worse survival in lung adenocarcinoma.
23412372 2013 Parkinsonism is a late, not rare, feature of CADASIL: a study on Italian patients carrying the R1006C mutation.
23382219 2013 Structural basis for endosomal trafficking of diverse transmembrane cargos by PX-FERM proteins.
23319290 2013 A novel Notch3 Gly89Cys mutation in a Serbian CADASIL family.
23314443 2013 FAM172A induces S phase arrest of HepG2 cells via Notch 3.
23226563 2012 Notch3 and HEY-1 as prognostic biomarkers in pancreatic adenocarcinoma.
23036509 2013 Experimental studies of mitochondrial function in CADASIL vascular smooth muscle cells.
23028706 2012 Biochemical characterization and cellular effects of CADASIL mutants of NOTCH3.
23019585 2012 Targeting Notch, a key pathway for ovarian cancer stem cells, sensitizes tumors to platinum therapy.
23010708 2012 Notch3 overexpression as potential therapeutic target in advanced stage chemoresistant ovarian cancer.
22948298 2012 CADASIL mutations and shRNA silencing of NOTCH3 affect actin organization in cultured vascular smooth muscle cells.
22806125 2012 Notch-3 receptor activation drives inflammation and fibrosis following tubulointerstitial kidney injury.
22705236 2012 CDKN1C/P57 is regulated by the Notch target gene Hes1 and induces senescence in human hepatocellular carcinoma.
22691042 2012 Notch3 and Jagged2 contribute to gastric cancer development and to glandular differentiation associated with MUC2 and MUC5AC expression.
22664156 2012 Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
22623959 2012 Identification of a known mutation in Notch 3 in familiar CADASIL in China.
22526456 2012 Profiling immunohistochemical expression of NOTCH1-3, JAGGED1, cMET, and phospho-MAPK in 100 carcinomas of unknown primary.
22493555 2012 Notch3 regulates the activation of hepatic stellate cells.
22422895 2012 The minimum prevalence of CADASIL in northeast England.
22396495 2012 Defining NOTCH3 target genes in ovarian cancer.
22373597 2012 Two novel mutations and a previously unreported intronic polymorphism in the NOTCH3 gene.
22367839 2012 Amyotrophic lateral sclerosis and frontotemporal lobar degeneration in association with CADASIL.
22310065 2012 Downregulation of transforming growth factor, beta receptor 2 and Notch signaling pathway in human abdominal aortic aneurysm.
22292737 2012 Ultrastructural changes in cerebral capillary pericytes in aged Notch3 mutant transgenic mice.
22218279 2012 CADASIL mutation and Balo concentric sclerosis: a link between demyelination and ischemia?
22204979 2012 The role of endothelial cell-bound Jagged1 in Notch3-induced human coronary artery smooth muscle cell differentiation.
22159056 2011 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy affecting an African American man: identification of a novel 15-base pair NOTCH3 duplication.
22153900 2012 Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease.
22153798 2012 Overexpression of the Notch3 receptor in non-functioning pituitary tumours.
22133740 2013 Screening for NOTCH3 gene mutations among 151 consecutive Korean patients with acute ischemic stroke.
22120716 2012 Acetylation controls Notch3 stability and function in T-cell leukemia.
22117196 2012 Inhibition of Notch3 signalling induces rhabdomyosarcoma cell differentiation promoting p38 phosphorylation and p21(Cip1) expression and hampers tumour cell growth in vitro and in vivo.
22082899 2011 p.Arg332Cys mutation of NOTCH3 gene in two unrelated Japanese families with CADASIL.
22079830 2012 Transendocytosis is impaired in CADASIL-mutant NOTCH3.
22079340 2012 Multi-organ investigation in 16 CADASIL families from central Italy sharing the same R1006C mutation.
22006983 2011 Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease.
21951372 2011 The genetics of white matter lesions.
21940951 2011 Notch3 Arg170Cys knock-in mice display pathologic and clinical features of the neurovascular disorder cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
21940234 2012 Silencing of Notch3 Using shRNA driven by survivin promoter inhibits growth and promotes apoptosis of human T-cell acute lymphoblastic leukemia cells.
21920521 2011 HGF/c-Met signalling promotes Notch3 activation and human vascular smooth muscle cell osteogenic differentiation in vitro.
21890822 2011 A NOTCH3-mediated squamous cell differentiation program limits expansion of EMT-competent cells that express the ZEB transcription factors.
21852154 2013 Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C.
21743488 2012 Modeling ductal carcinoma in situ: a HER2-Notch3 collaboration enables luminal filling.
21726900 2011 Expression patterns of Notch receptors and their ligands Jagged and Delta in human placenta.
21705670 2011 Endothelial cells downregulate apolipoprotein D expression in mural cells through paracrine secretion and Notch signaling.
21702048 2012 Human peripheral blood lymphocytes and fibroblasts as Notch3 expression models.
21673954 2011 Hepatitis C virus NS3 protein can activate the Notch-signaling pathway through binding to a transcription factor, SRCAP.
21628316 2011 Co-aggregate formation of CADASIL-mutant NOTCH3: a single-particle analysis.
21616505 2011 NOTCH3 gene mutations in subjects clinically suspected of CADASIL.
21602525 2011 Notch-3 and Notch-4 signaling rescue from apoptosis human B-ALL cells in contact with human bone marrow-derived mesenchymal stromal cells.
21551231 2011 Modulation of microRNA expression in human T-cell development: targeting of NOTCH3 by miR-150.
21508102 2011 Notch signaling modulates MUC16 biosynthesis in an in vitro model of human corneal and conjunctival epithelial cell differentiation.
21471519 Expression of Notch1 to -4 and their ligands in renal cell carcinoma: a tissue microarray study.
21409506 2011 First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family.
21245095 2011 Notch3 activation promotes invasive glioma formation in a tissue site-specific manner.
21217157 2011 CADASIL with cord involvement associated with a novel and atypical NOTCH3 mutation.
21169401 2011 Cyclic stretch stimulates vascular smooth muscle cell alignment by redox-dependent activation of Notch3.
21124806 2010 Notch and MAML-1 complexation do not detectably alter the DNA binding specificity of the transcription factor CSL.
21118965 2010 Aldehyde dehydrogenase activity selects for lung adenocarcinoma stem cells dependent on notch signaling.
21103979 2011 Association analysis of Notch pathway signalling genes in diabetic nephropathy.
21078731 2010 Genetically confirmed CADASIL in a pediatric patient.
20935329 2011 NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL.
20819128 2011 Activation of Notch signaling in human tongue carcinoma.
20813781 2011 Association of a Notch 3 gene polymorphism with migraine susceptibility.
20801121 2010 NOTCH1 and NOTCH3 coordinate esophageal squamous differentiation through a CSL-dependent transcriptional network.
20689064 2010 Notch3 is critical for proper angiogenesis and mural cell investment.
20671266 2010 Notch3 overexpression is related to the recurrence of ovarian cancer and confers resistance to carboplatin.
20651241 2010 Notch3 in human breast cancer cell lines regulates osteoblast-cancer cell interactions and osteolytic bone metastasis.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20628624 2010 Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".
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.
20624166 2010 Prognostic significance of Notch 3 gene expression in ovarian serous carcinoma.
20614134 2011 Evidence of the cross talk between Wnt and Notch signaling pathways in non-small-cell lung cancer (NSCLC): Notch3-siRNA weakens the effect of LiCl on the cell cycle of NSCLC cell lines.
20554499 2010 Squamous odontogenic tumor of the mandible: a case report demonstrating immunoexpression of Notch1, 3, 4, Jagged1 and Delta1.
20472562 2010 Low density lipoprotein receptor-related protein-1 (LRP1) regulates thrombospondin-2 (TSP2) enhancement of Notch3 signaling.
20359736 2010 Expression of nuclear Notch3 in cervical squamous cell carcinomas and its association with adverse clinical outcomes.
20329594 2009 A case report about CADASlL: mutation in the NOTCH 3 receptor.
20169447 2010 High frequency of exon 10 mutations in the NOTCH3 gene in Italian CADASIL families: phenotypic peculiarities.
20167921 2010 Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individuals.
20069356 2010 A switch in Notch gene expression parallels stem cell to endothelial transition in infantile hemangioma.
20040020 2010 Detection of Notch signaling molecules in cemento-ossifying fibroma of the jaws.
20038773 2010 Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19881544 2010 Notch3 cooperates with the EGFR pathway to modulate apoptosis through the induction of bim.
19859875 2009 [Periodontal disease as an early clinical sign of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)].
19855400 2009 Notch3 signaling promotes the development of pulmonary arterial hypertension.
19835636 2009 NK-like homeodomain proteins activate NOTCH3-signaling in leukemic T-cells.
19825845 2010 Mutations in NOTCH3 cause the formation and retention of aggregates in the endoplasmic reticulum, leading to impaired cell proliferation.
19816816 2010 Inhibition of Notch3 enhances sensitivity to gemcitabine in pancreatic cancer through an inactivation of PI3K/Akt-dependent pathway.
19735738 2009 Lysosome-dependent degradation of Notch3.
19603167 2010 Aberrant expression of Notch signaling molecules in patients with immune thrombocytopenic purpura.
19576955 2009 High recurrence of the R1006C NOTCH3 mutation in central Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
19417009 2009 CADASIL mutations enhance spontaneous multimerization of NOTCH3.
19404845 2009 Expression and clinical significance of Notch receptors in human renal cell carcinoma.
19373490 2009 Association of three-gene interaction among MTHFR, ALOX5AP and NOTCH3 with thrombotic stroke: a multicenter case-control study.
19372454 2009 Different clinical phenotypes in monozygotic CADASIL twins with a novel NOTCH3 mutation.
19293235 2009 Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain.
19242647 2009 Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese.
19208840 2009 Cross-talk between tumor and endothelial cells involving the Notch3-Dll4 interaction marks escape from tumor dormancy.
19174371 2009 Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients.
19167727 2009 Report of two Chinese families and a review of Mainland Chinese CADASIL patients.
19150886 2009 NOTCH3 expression is induced in mural cells through an autoregulatory loop that requires endothelial-expressed JAGGED1.
19139365 2009 MRI correlates of cognitive decline in CADASIL: a 7-year follow-up study.
19056668 2009 Conventional MRI and NOTCH3 gene screening in sporadic CADASIL.
19054571 2009 Polymorphisms in genes involved in neurodevelopment may be associated with altered brain morphology in schizophrenia: preliminary evidence.
19043263 2008 Two Japanese CADASIL families exhibiting Notch3 mutation R75P not involving cysteine residue.
19018300 2008 Investigation of the NOTCH3 and TNFSF7 genes on C19p13 as candidates for migraine.
19006080 2009 CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.
18974129 2008 Identification of Pbx1, a potential oncogene, as a Notch3 target gene in ovarian cancer.
18948701 2009 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy and right-to-left shunt: lack of evidence for an association in a prevalence study.
18941948 2008 A novel heterozygous mutation in the NOTCH3 gene causing CADASIL.
18765654 2008 Cysteine-sparing notch3 mutations: cadasil or cadasil variants?
18758477 2008 Notch3: from subtle structural differences to functional diversity.
18632624 2008 Jagged-1 and Notch3 juxtacrine loop regulates ovarian tumor growth and adhesion.
18626519 2008 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in Arabs.
18572291 2008 Nephroangiosclerosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: is NOTCH3 mutation the common culprit?
18499132 2008 Sporadic vascular dementia as clinical presentation of a new missense mutation within exon 7 of NOTCH3 gene.
18483410 2008 Notch signaling regulates platelet-derived growth factor receptor-beta expression in vascular smooth muscle cells.
18339869 2008 NOTCH3 signaling pathway plays crucial roles in the proliferation of ErbB2-negative human breast cancer cells.
18299578 2008 Interaction with factor inhibiting HIF-1 defines an additional mode of cross-coupling between the Notch and hypoxia signaling pathways.
18273901 2008 Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain.
18184405 2007 Mutational analysis of NOTCH1, 2, 3 and 4 genes in common solid cancers and acute leukemias.
18075987 2007 [Monitoring cognitive characteristics in a population with hereditary cerebrovascular disease (CADASIL) in Colombia].
18069660 2008 Evidence of Notch pathway activation in the ectatic ducts of chronic pancreatitis.
18060036 2007 IL-6 triggers malignant features in mammospheres from human ductal breast carcinoma and normal mammary gland.
18022198 2008 A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient.
17996090 2007 CADASIL in Arabs: clinical and genetic findings.
17939118 2007 Coexpression of Notch3 and Rgs5 in the pericyte-vascular smooth muscle cell axis in response to pulp injury.
17920003 2008 Deregulated expression of Notch receptors in human hepatocellular carcinoma.
17878719 2007 Neuromuscular implications in CADASIL.
17854869 An overview of Notch3 function in vascular smooth muscle cells.
17853970 2007 [A new Spanish family with CADASIL associated with 346C>T mutation of NOTCH3 gene].
17822871 2007 Notch3 activation modulates cell growth behaviour and cross-talk to Wnt/TCF signalling pathway.
17822320 2007 A study on Notch signaling in human breast cancer.
17804716 2007 Gamma-secretase inhibitor prevents Notch3 activation and reduces proliferation in human lung cancers.
17696940 2007 Aberrant Notch3 and Notch4 expression in human hepatocellular carcinoma.
17690848 2007 Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 NOTCH3 gene mutation.
17573339 2007 Asparaginyl hydroxylation of the Notch ankyrin repeat domain by factor inhibiting hypoxia-inducible factor.
17474147 2007 Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.
17390743 2007 Renal involvement in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
17331978 2007 The archetypal R90C CADASIL-NOTCH3 mutation retains NOTCH3 function in vivo.
17301032 2007 Impaired expression of Notch signaling genes in aged human skeletal muscle.
17292860 2007 Conserved signal peptide of Notch3 inhibits interaction with proteasome.
17158237 2007 p66Shc/Notch-3 interplay controls self-renewal and hypoxia survival in human stem/progenitor cells of the mammary gland expanded in vitro as mammospheres.
16998728 2006 Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene.
16899352 2006 Analysis of coding-polymorphisms in NOTCH-related genes reveals NUMBL poly-glutamine repeat to be associated with schizophrenia in Brazilian and Danish subjects.
16833034 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
16807713 2006 Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL.
16796587 2006 A new de novo Notch3 mutation causing CADASIL.
16717210 2006 Characteristics of CADASIL in Korea: a novel cysteine-sparing Notch3 mutation.
16492242 2006 Investigating the association between Notch3 polymorphism and migraine.
16426270 2006 Genetic variants of the NOTCH3 gene in migraine--a mutation analysis and association study.
16107360 2005 Functional analysis of a recurrent missense mutation in Notch3 in CADASIL.
16009764 2005 Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies.
15987768 2005 Notch-mediated CBF-1/RBP-J{kappa}-dependent regulation of human vascular smooth muscle cell phenotype in vitro.
15818833 2005 Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
15694192 2005 Arg332Cys mutation of NOTCH3 gene in the first known Taiwanese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
15378071 2004 Detection of the founder effect in Finnish CADASIL families.
15364702 2004 Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients.
15304596 2004 A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL.
15300988 2004 Gene symbol: NOTCH3. Disease: CADASIL.
15229130 2004 The influence of genetic and cardiovascular risk factors on the CADASIL phenotype.
15096408 2004 Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
15057824 2004 The DNA sequence and biology of human chromosome 19.
14767686 2004 An Italian case of CADASIL with mutation CGC-TCG in codon 1006, exon 19 Notch3 gene.
14714274 2004 Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling Pathway.
12810003 2003 Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis.
12678157 2003 Mutation of the Notch 3 gene in a Thai cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy family.
12589106 2003 A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patient.
12511775 2003 Yield of screening for CADASIL mutations in lacunar stroke and leukoaraiosis.
12482954 2002 A CADASIL-mutated Notch 3 receptor exhibits impaired intracellular trafficking and maturation but normal ligand-induced signaling.
12480758 2002 Lack of association between NOTCH3 gene polymorphism and cerebrovascular disease in Japanese patients.
12370315 2002 Identification of a family of mastermind-like transcriptional coactivators for mammalian notch receptors.
12210282 2002 Investigation of Notch3 as a candidate gene for bipolar disorder using brain hyperintensities as an endophenotype.
12146805 2002 CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia.
12136071 2002 C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke.
12134625 2002 [Molecular basis and physiopathogenic mechanisms of CADASIL: a model of small vessel diseases of the brain].
11978185 2002 Notch signalling is linked to epidermal cell differentiation level in basal cell carcinoma, psoriasis and wound healing.
11891328 2002 Combined expression of pTalpha and Notch3 in T cell leukemia identifies the requirement of preTCR for leukemogenesis.
11810186 2002 Reversible coma with raised intracranial pressure: an unusual clinical manifestation of CADASIL.
11755616 2001 Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis.
11706120 2001 NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL.
11559313 2001 A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings.
11518718 2001 Murine notch homologs (N1-4) undergo presenilin-dependent proteolysis.
11404076 2001 The origin of the ankyrin repeat region in Notch intracellular domains is critical for regulation of HES promoter activity.
11102981 2000 Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content.
11101851 2000 MAML1, a human homologue of Drosophila mastermind, is a transcriptional co-activator for NOTCH receptors.
11058919 2000 Identification of a novel mutation C144F in the Notch3 gene in an Australian CADASIL pedigree.
11032621 2000 Description of a simple test for CADASIL disease and determination of mutation frequencies in sporadic ischaemic stroke and dementia patients.
11006133 2000 Physical interaction of Delta1, Jagged1, and Jagged2 with Notch1 and Notch3 receptors.
10854111 2000 Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains.
10802807 2000 Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL.
10716263 2000 De novo mutation in the Notch3 gene causing CADASIL.
10712431 2000 The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients.
10371548 1999 Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group.
10227618 1999 Quantitative MRI in CADASIL: correlation with disability and cognitive performance.
10079256 1999 Human ligands of the Notch receptor.
9388399 1997 Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients.
8878478 1996 Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia.
8794055 1996 Neurogenic genes and vertebrate neurogenesis.
8485581 1993 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12.
7835890 1994 Three genes in the human MHC class III region near the junction with the class II: gene for receptor of advanced glycosylation end products, PBX2 homeobox gene and a notch homolog, human counterpart of mouse mammary tumor gene int-3.
7698746 1994 The human NOTCH1, 2, and 3 genes are located at chromosome positions 9q34, 1p13-p11, and 19p13.2-p13.1 in regions of neoplasia-associated translocation.
4557798 1972 Comparison of male and female kidney transplant survival rates.