Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP)
about
The HRPT2 tumor suppressor gene product parafibromin associates with human PAF1 and RNA polymerase IIThe parafibromin tumor suppressor protein inhibits cell proliferation by repression of the c-myc proto-oncogeneFamilial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3-14Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression.The parafibromin tumor suppressor protein interacts with actin-binding proteins actinin-2 and actinin-3.Clinical and molecular genetics of parathyroid neoplasmsGenetic characterization of large parathyroid adenomasCDC73 intragenic deletion in familial primary hyperparathyroidism associated with parathyroid carcinomaGenome-wide and locus specific alterations in CDC73/HRPT2-mutated parathyroid tumors.Hyperparathyroidism-jaw tumor syndrome: Results of operative management.Parathyroid cancer.Defective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndrome.Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism.CDC73 gene mutations in sporadic ossifying fibroma of the jaws.Molecular diagnosis of primary hyperparathyroidism in familial cancer syndromes.Genetic basis of familial isolated hyperparathyroidism: a case series and a narrative review of the literature.Update on parathyroid carcinoma.Parafibromin tumor suppressor enhances cell growth in the cells expressing SV40 large T antigen.Identification of a functional bipartite nuclear localization signal in the tumor suppressor parafibromin.Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition.Cystic parathyroid glands in MEN1: A rare entity?Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.
P2860
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P2860
Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP)
description
2004 nî lūn-bûn
@nan
2004 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի մարտին հրատարակված գիտական հոդված
@hy
2004年の論文
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2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
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name
Germline and de novo mutations ...... ted hyperparathyroidism (FIHP)
@ast
Germline and de novo mutations ...... ted hyperparathyroidism (FIHP)
@en
Germline and de novo mutations ...... ted hyperparathyroidism (FIHP)
@nl
type
label
Germline and de novo mutations ...... ted hyperparathyroidism (FIHP)
@ast
Germline and de novo mutations ...... ted hyperparathyroidism (FIHP)
@en
Germline and de novo mutations ...... ted hyperparathyroidism (FIHP)
@nl
prefLabel
Germline and de novo mutations ...... ted hyperparathyroidism (FIHP)
@ast
Germline and de novo mutations ...... ted hyperparathyroidism (FIHP)
@en
Germline and de novo mutations ...... ted hyperparathyroidism (FIHP)
@nl
P2093
P3181
P356
P1476
Germline and de novo mutations ...... ted hyperparathyroidism (FIHP)
@en
P2093
A Calender
A Villablanca
A-L Richardson
B G Robinson
P3181
P356
10.1136/JMG.2003.012369
P407
P50
P577
2004-03-01T00:00:00Z