Property Summary

NCBI Gene PubMed Count 106
PubMed Score 260.44
PubTator Score 209.59

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Gene RIF (81)

PMID Text
26232434 Parafibromin interacted with JAK1/2, promoted the interactions of JAK1-JAK2 and JAK1/2-STAT1, and promoted tyrosine phosphorylation of STAT1 by JAKs after IFN-gamma stimulation.
26124004 These findings suggest that downregulated expression of parafibromin protein plays an important role in the pathogenesis, differentiation, and metastasis of head and neck squamous cell carcinomas
25388829 targets and destabilizes p53 mRNA to control p53-mediated apoptosis
25113791 Data report a novel mutation in the CDC73 gene that may underlie HPT-JT syndrome.
24889687 gene expression profiling experiments suggest that upregulated FGFR1 expression appears to be associated with parathyroid carcinoma in HPT-JT syndrome due to an HRPT2 splicing mutation
24823466 A previously unreported intragenic deletion of exons 1 to 10 of CDC73 was detected in a three-generation family with familial primary hyperparathyroidism with parathyroid carcinoma.
24716902 3 unrelated Chinese families with familial isolated primary hyperparathyroidism and 1 with hyperparathyroidism-jaw tumour syndrome were described; genetic analysis revealed 4 germline mutations that were responsible for the 4 kindreds including 2 novel point mutations, 1 recurrent point mutation and 1 deletion mutation
24340015 Mutations within the nucleolar localisation signals of the CDC73 gene led to instability either of the corresponding mutated protein or mRNA or both.
24257751 Data indicate that overexpression of Wilms tumor 1 gene (WT1) decreased CDC73 levels and promoted proliferation of oral squamous cell carcinoma (OSCC) cells.
24121387 We present three siblings with familial isolated hyperparathyroidism due to solitary parathyroid adenoma and favorable evolution post-parathyroidectomy. Genetic tests revealed HRPT2 mutation.
24081804 Negative parafibromin staining is associated with malignant behavior in atypical parathyroid adenomas.
23991985 High parafibromin expression is associated with colorectal carcinomas.
23757631 Genetic analysis of a patient with hyperparathyroidism-jaw tumor revealed a novel nonsense mutation in exon 1 of CDC73
23453027 The contribution of HRPT2 inactivation to the pathogenesis of OF, FD, and OS is marginal at best and may be limited to progression rather than tumor initiation.
23166327 Oncogenic microRNA-155 down-regulates tumor suppressor CDC73 and promotes oral squamous cell carcinoma cell proliferation
23060304 Twenty cases of CCPRCC were stained for parafibromin and showed diffuse and strong nuclear positivity for this marker
23029479 CDC73-mutated carcinomas displayed losses in chromosome 1p and loss of the entire chromosome 13 which are not seen in CDC73-mutated adenomas.
23029104 we have firstly demonstrated the high prevalence of HRPT2/CDC mutations and loss of expression of its corresponding protein in clinically sporadic parathyroid carcinomas in Chinese population.
22987117 CDC73 mutations and negative immunostaining were common in atypical parathyroid adenomas
22932087 Complete loss of parafibromin expression was seen in 9 of 15 (60%) carcinomas, and all normal parathyroid tissues and parathyroid benign tumors stained positive for parafibromin except for one (4%) adenoma.
22187299 germ-line inactivating mutations in CDC73 gene are common in young patients with clinically non-familial primary hyperparathyroidism
21732217 identified one novel germline mutation CDC73 NM_024529.4: c.1475G > A; NP_078805.3: p.Trp492X and one novel somatic mutation CDC73 NM_024529.4: c.142G > T; NP_078805.3: p.Glu48X associated with parathyroid neoplasm
21717873 Detected HRPT2 mutation in parathyroid carcinoma or atypical parathyroid adenoma in sporadic hyperparathyroidism in Thai patients.
21692036 Parafibromin expression could be employed to indicate the favorable prognosis of patients with adenocarcinoma.
21652691 Mutational analysis of the CDC73 gene identified 8 sequence changes, 3 of them have been reported previously, whereas 5 are novel: c.1346delG, c.88_94delTTCTCCT, non-coding variants, c.307+5G>T and c.424-5T>C and c.*12C>A of unknown significance.
21360064 The present data suggests that patients with apparently sporadic parathyroid carcinomas, or parathyroid tumors with atypical histological features, should undergo molecular genetic testing, as it may detect germline HRPT2 mutations.
21315421 It was suggested that parafibromin overexpression might suppress cell cycle progression and promote differentiation of DLD-1 cells.
21240254 Downregulation of CASR expression and global loss of parafibromin staining are strong negative determinants of prognosis in parathyroid carcinoma
21221636 The demonstrated absence of nucleolar parafibromin in three carcinomas with HRPT2 mutations suggests that parafibromin exhibits nucleolar tumour suppressor properties also in vivo.
20541447 The stability of the altered HRPT2 transcripts and translation products produced in the hyperparathyroidim-jaw tumors syndrome, was investigated.
20480190 HRPT2 (replaced with this gene ID 79577) gene mutation may be associated with tumor recurrence.
20304979 The simultaneous loss of nucleolar localization and acquisition of a growth stimulatory phenotype with the L95P mutation raise the possibility that parafibromin must interact with targets in the nucleolus to fully execute its tumor suppressor functions.
20052758 analysis of the cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors
20026646 Alternative mechanisms such as mutation in intronic regions, additional epigenetic regulation, or other regulatory inactivation mechanisms may play a role in the loss of parafibromin expression.
19474519 Observational study of gene-disease association. (HuGE Navigator)
19351817 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19332451 Aberrant splicing caused by disruption of exonic splice enhancer sites does not appear to have a major role in HRPT2-associated disease.
19169472 HRPT2 mutation is an early event that may lead to parathyroid malignancy and, moreover, it has been suggested that intragenic mutation of HRPT2 should be considered as a marker of malignant potential in both familial and sporadic parathyroid tumors.
19136632 Shows that this protein interacts with cleavage stimulation factor (CstF) complexes that are required for the maturation of mRNA 3' ends in the cell nucleus.
19081034 parathyroid carcinoma may be a manifestation of HRPT2 germline mutations
19058032 A variety of genetic abnormalities, including HRPT2 mutations, occur in parathyroid carcinomas.
19017757 Positive staining for PGP9.5 has utility as a marker for parathyroid malignancy, with a slightly superior sensitivity (P = 0.03) and similar high specificity to that of parafibromin.
18987311 The parafibromin tumor suppressor protein HRPT2 inhibits cell proliferation by repression of the c-myc proto-oncogene
18755853 CDC73 germline mutations are responsible for more than half of cases of hyperparathyroidism-jaw tumor syndrome.
18687124 Parafibromin interacted with muscle alpha-actinins (actinin-2 and actinin-3).
18436011 germline mutations with familial hyperparathyroidism associated with 80% recurrence/persistence rate, increasingly difficult re-operations and risk of parathyroid carcinoma
18338208 inactivating mutations and/or allelic loss of the HRPT2 gene may not play a major role in parathyroid carcinogenesis in secondary HPT due to CKD
18217513 loss of HRPT2 gene expression is strongly associated with parathyroid carcinomas.
18080135 Downregulated parafibromin expression possibly contributed to pathogenesis, growth, invasion and metastasis of gastric carcinomas.
17923126 Three identified NoLSs play only a minor role in nuclear localization, but are critical for the nucleolar localization of parafibromin.
17555500 These results suggest that not only HRPT2 but also MEN1 mutations may play a role in sporadic parathyroid cancer formation.
17555500 Observational study of genotype prevalence. (HuGE Navigator)
17404568 Acts as a positive regulator of cell growth similar to an oncoprotein in the presence of Simian virus 40 large T antigen.
17314275 These experiments identify for the first time a proapoptotic activity of endogenous parafibromin likely to be important in its role as a tumor suppressor and show a functional role for the NLS of parafibromin in this activity.
17138574 The molecular basis for HPT has been further elucidated by teh detection of inactivating germline mutations in the CaSR gene in familial hypocalciuric hypercalcemia syndrome and in the HRPT-2 genes in the familial forms of HPT.
17130827 renal cancer-associated mutations in parafibromin occur in the absence of von Hippel-Lindau mutation
16989776 parafibromin has a critical role in cell growth, and mutations in HRPT2 can directly inhibit this role
16728578 The presented data suggest that in the majority of benign parathyroid tumours the expression of parafibromin remains unaltered, while the loss of parafibromin expression is strongly indicative of gene inactivation through mutation of the HRPT2 gene.
16630820 Data show that Drosophila Hyrax and its human ortholog, Parafibromin, are required for nuclear transduction of the Wnt/Wg signal and bind directly to the C-terminal region of beta-catenin/Armadillo.
16448924 mutation in exon 1 (nt 20AGGACG --> GGGAG) is predicted to inactivate the parafibromin protein through protein truncation and premature termination of translation
16116486 specific HRPT2 mutations identified in HPT-JT or sporadic parathyroid carcinoma predicted to truncate parafibromin upstream of or within this NLS disrupt nuclear localization
16061557 A non-consensus (non-canonical) donor splice site within exon 1 of the HRPT2 gene is associated with familial isolated primary hyperparathyroidism (FIHP).
15956079 HRPT2 inactivation is not an important participant in the pathogenesis of typical parathyroid adenomas.
15923622 findings link the tumor suppressor parafibromin to the transcription elongation and RNA processing pathway as a PAF1 complex- and RNA polymerase II-bound protein.
15632063 By purifying cellular parafibromin and characterizing its associated proteins, a human counterpart to the yeast Paf1 complex including homologs of Leo1, Paf1, and Ctr9, has been described.
15613436 Mutation of HRPT2 is associated with the formation of parathyroid tumors in hyperparathyroidism-jaw tumor syndrome.
15580289 Human parafibromin is a nucleocytoplasmic tumor suppressor protein which regulates cyclin D1/PRAD1 expression.
15070940 Patients shared common haplotype of seven markers spannning approximately 12.5-cM region, flanked centromerically by D1S202 and telomerically by D1S306. A 2-bp (TG or GT) frameshift deletion in exon 8, which predicts a truncated parafibromin protein.
15046109 Mutations in HRPT2 is associated with Hyperparathyroidism Jaw-tumor syndrome.
15046107 Mutations in HRPT2 is associated with Hyperparathyroidism Jaw-tumor syndrome.
15046105 Mutations in HRPT2 is associated with Hyperparathyroidism Jaw-tumor syndrome.
15046102 Mutations in HRPT2 is associated with Hyperparathyroidism Jaw-tumor syndrome.
15046098 Mutations in HRPT2 is associated with Hyperparathyroidism Jaw-tumor syndrome.
15046094 Mutations in HRPT2 is associated with Hyperparathyroidism Jaw-tumor syndrome.
15046050 Missense Mutation in HRPT2 is associated with Hyperparathyroidism Jaw-tumor syndrome.
14985403 mutations in the HRPT2 gene are likely to be associated with parathyroid tumourigenesis; DNA mutational analysis in familial isolated hyperparathyroidism
14985373 Observational study of gene-disease association. (HuGE Navigator)
14985373 genotype phenotype analysis in familial isolated hyperparathyroidism
14715834 among 32 familial isolated hyperparathyroidism families, only a single one was found to have a mutation in parafibromin (HRPT2) gene
12960210 It is hypothesised that HRPT2 mutation is an early event that may lead to parathyroid malignancy and suggest intragenic mutation of HRPT2 as a marker of malignant potential in both familial and sporadic parathyroid tumours.
12434154 This gene is now identified as associated with the hyperparathyroidism-jaw tumor syndrome.

AA Sequence

MADVLSVLRQYNIQKKEIVVKGDEVIFGEFSWPKNVKTNYVVWGTGKEGQPREYYTLDSILFLLNNVHLS      1 - 70
HPVYVRRAATENIPVVRRPDRKDLLGYLNGEASTSASIDRSAPLEIGLQRSTQVKRAADEVLAEAKKPRI     71 - 140
EDEECVRLDKERLAARLEGHKEGIVQTEQIRSLSEAMSVEKIAAIKAKIMAKKRSTIKTDLDDDITALKQ    141 - 210
RSFVDAEVDVTRDIVSRERVWRTRTTILQSTGKNFSKNIFAILQSVKAREEGRAPEQRPAPNAAPVDPTL    211 - 280
RTKQPIPAAYNRYDQERFKGKEETEGFKIDTMGTYHGMTLKSVTEGASARKTQTPAAQPVPRPVSQARPP    281 - 350
PNQKKGSRTPIIIIPAATTSLITMLNAKDLLQDLKFVPSDEKKKQGCQRENETLIQRRKDQMQPGGTAIS    351 - 420
VTVPYRVVDQPLKLMPQDWDRVVAVFVQGPAWQFKGWPWLLPDGSPVDIFAKIKAFHLKYDEVRLDPNVQ    421 - 490
KWDVTVLELSYHKRHLDRPVFLRFWETLDRYMVKHKSHLRF                                 491 - 531
//

Text Mined References (114)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26742426 2016 Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26232434 2015 Parafibromin Is a Component of IFN-?-Triggered Signaling Pathways That Facilitates JAK1/2-Mediated Tyrosine Phosphorylation of STAT1.
26124004 2015 The clinicopathological significances and biological functions of parafibromin expression in head and neck squamous cell carcinomas.
25416956 2014 A proteome-scale map of the human interactome network.
25388829 2014 Cytoplasmic parafibromin/hCdc73 targets and destabilizes p53 mRNA to control p53-mediated apoptosis.
25218447 2014 Uncovering global SUMOylation signaling networks in a site-specific manner.
25113791 2014 A novel CDC73 gene mutation in an Italian family with hyperparathyroidism-jaw tumour (HPT-JT) syndrome.
24889687 2014 Upregulation of FGFR1 expression is associated with parathyroid carcinogenesis in HPT-JT syndrome due to an HRPT2 splicing mutation.
24823466 2014 CDC73 intragenic deletion in familial primary hyperparathyroidism associated with parathyroid carcinoma.
24716902 2014 Familial isolated primary hyperparathyroidism/hyperparathyroidism-jaw tumour syndrome caused by germline gross deletion or point mutations of CDC73 gene in Chinese.
24340015 2013 Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene.
24257751 2014 Transcriptional repression of tumor suppressor CDC73, encoding an RNA polymerase II interactor, by Wilms tumor 1 protein (WT1) promotes cell proliferation: implication for cancer therapeutics.
24121387 Familial isolated primary hyperparathyroidism due to HRPT2 mutation.
24081804 2014 Negative parafibromin staining predicts malignant behavior in atypical parathyroid adenomas.
23991985 2013 Effects of parafibromin expression on the phenotypes and relevant mechanisms in the DLD-1 colon carcinoma cell line.
23757631 Recurrent hyperparathyroidism and a novel nonsense mutation in a patient with hyperparathyriodism-jaw tumor syndrome.
23453027 2013 Assessing the contribution of HRPT2 to the pathogenesis of jaw fibrous dysplasia, ossifying fibroma, and osteosarcoma.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23166327 2013 Oncogenic microRNA-155 down-regulates tumor suppressor CDC73 and promotes oral squamous cell carcinoma cell proliferation: implications for cancer therapeutics.
23060304 2013 Expression of parafibromin in clear cell papillary renal cell carcinoma.
23029479 2012 Genome-wide and locus specific alterations in CDC73/HRPT2-mutated parathyroid tumors.
23029104 2012 Novel HRPT2/CDC73 gene mutations and loss of expression of parafibromin in Chinese patients with clinically sporadic parathyroid carcinomas.
22987117 2012 CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohort.
22932087 2012 Expression of Ki-67, galectin-3, fragile histidine triad, and parafibromin in malignant and benign parathyroid tumors.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22589738 2012 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
22187299 2012 Frequent germ-line mutations of the MEN1, CASR, and HRPT2/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism.
21900206 2011 A directed protein interaction network for investigating intracellular signal transduction.
21732217 2011 Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors.
21717873 2011 Sensitivity of HRPT2 mutation screening to detect parathyroid carcinoma and atypical parathyroid adenoma of Thai patients.
21692036 2011 Parafibromin expression in lung normal tissue and carcinoma: its comparison with clinicopathological parameters of carcinoma.
21652691 2011 CDC73-related hereditary hyperparathyroidism: five new mutations and the clinical spectrum.
21360064 2011 Identification of de novo germline mutations in the HRPT2 gene in two apparently sporadic cases with challenging parathyroid tumor diagnoses.
21329879 2011 Transcriptional activators enhance polyadenylation of mRNA precursors.
21315421 2011 Parafibromin expression is an independent prognostic factor for colorectal carcinomas.
21269460 2011 Initial characterization of the human central proteome.
21240254 2011 Downregulation of CASR expression and global loss of parafibromin staining are strong negative determinants of prognosis in parathyroid carcinoma.
21221636 2011 Absence of nucleolar parafibromin immunoreactivity in subsets of parathyroid malignant tumours.
20541477 2010 The PAF complex synergizes with MLL fusion proteins at HOX loci to promote leukemogenesis.
20541447 2010 Analysis of aberrantly spliced HRPT2 transcripts and the resulting proteins in HPT-JT syndrome.
20480190 2010 The surgical strategy and the molecular analysis of patients with parathyroid cancer.
20304979 2010 Defective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndrome.
20178742 2010 The human PAF1 complex acts in chromatin transcription elongation both independently and cooperatively with SII/TFIIS.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20052758 2010 Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.
20026646 2010 CDC73/HRPT2 CpG island hypermethylation and mutation of 5'-untranslated sequence are uncommon mechanisms of silencing parafibromin in parathyroid tumors.
19952111 2009 DSIF, the Paf1 complex, and Tat-SF1 have nonredundant, cooperative roles in RNA polymerase II elongation.
19474519 2009 Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition.
19410543 2009 RAD6-Mediated transcription-coupled H2B ubiquitylation directly stimulates H3K4 methylation in human cells.
19351817 2009 Genetic mutations associated with cigarette smoking in pancreatic cancer.
19332451 2009 The effect of disease-associated HRPT2 mutations on splicing.
19169472 2008 HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach?
19136632 2009 The tumor suppressor Cdc73 functionally associates with CPSF and CstF 3' mRNA processing factors.
19135898 2009 Purification of proteins associated with specific genomic Loci.
19081034 2008 Re: Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations.
19058032 2008 Challenging lesions in the differential diagnosis of endocrine tumors: parathyroid carcinoma.
19017757 2009 Accuracy of combined protein gene product 9.5 and parafibromin markers for immunohistochemical diagnosis of parathyroid carcinoma.
18987311 2008 The parafibromin tumor suppressor protein inhibits cell proliferation by repression of the c-myc proto-oncogene.
18755853 2008 Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism.
18687124 2008 The parafibromin tumor suppressor protein interacts with actin-binding proteins actinin-2 and actinin-3.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18436011 2008 Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations.
18338208 2008 Expression of parafibromin in distant metastatic parathyroid tumors in patients with advanced secondary hyperparathyroidism due to chronic kidney disease.
18217513 2007 Aberrant methylation of the HRPT2 gene in parathyroid carcinoma.
18080135 2008 Downregulated parafibromin expression is a promising marker for pathogenesis, invasion, metastasis and prognosis of gastric carcinomas.
17923126 2007 Nucleolar localization of parafibromin is mediated by three nucleolar localization signals.
17639062 2007 Different somatic alterations of the HRPT2 gene in a patient with recurrent sporadic primary hyperparathyroidism carrying an HRPT2 germline mutation.
17555500 2007 Identification of MEN1 and HRPT2 somatic mutations in paraffin-embedded (sporadic) parathyroid carcinomas.
17404568 2007 Parafibromin tumor suppressor enhances cell growth in the cells expressing SV40 large T antigen.
17314275 2007 Nuclear localization of the parafibromin tumor suppressor protein implicated in the hyperparathyroidism-jaw tumor syndrome enhances its proapoptotic function.
17138574 2007 Primary hyperparathyroidism--what the nephrologist should know--an update.
17130827 2007 Sporadic human renal tumors display frequent allelic imbalances and novel mutations of the HRPT2 gene.
17113272 2007 BCL9-2 binds Arm/beta-catenin in a Tyr142-independent manner and requires Pygopus for its function in Wg/Wnt signaling.
16989776 2006 Parafibromin inhibits cancer cell growth and causes G1 phase arrest.
16728578 2006 Loss of parafibromin expression in a subset of parathyroid adenomas.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16630820 2006 Parafibromin/Hyrax activates Wnt/Wg target gene transcription by direct association with beta-catenin/Armadillo.
16487440 2006 Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.
16448924 2006 Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation.
16307923 2005 Monoubiquitination of human histone H2B: the factors involved and their roles in HOX gene regulation.
16116486 2005 Identification of a functional bipartite nuclear localization signal in the tumor suppressor parafibromin.
16061557 2005 Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism.
16024656 2005 The human PAF complex coordinates transcription with events downstream of RNA synthesis.
15956079 2005 HRPT2 mutational analysis of typical sporadic parathyroid adenomas.
15923622 2005 The HRPT2 tumor suppressor gene product parafibromin associates with human PAF1 and RNA polymerase II.
15635413 2005 Nucleolar proteome dynamics.
15632063 2005 The parafibromin tumor suppressor protein is part of a human Paf1 complex.
15613436 2005 A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome.
15580289 2005 Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression.
15531515 2004 Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15070940 2004 Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene.
15046109 2004 Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.
15046107 2004 Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.
15046105 2004 Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.
15046102 2004 Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.
15046098 2004 Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.
15046094 2004 Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.
15046050 2004 Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.
14985403 2004 Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP).
14985373 2004 Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications.
14715834 2004 Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14585940 2003 Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma.
12960210 2003 HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12434154 2002 HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
11951180 2002 Revised 14.7-cM locus for the hyperparathyroidism-jaw tumor syndrome gene, HRPT2.
11318611 2001 Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
7717405 1995 Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31.