HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
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Cherubism: best clinical practiceThe 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-oncogeneThe tumor suppressor Cdc73 functionally associates with CPSF and CstF 3' mRNA processing factorsThe parafibromin tumor suppressor protein is part of a human Paf1 complexFamilial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3-14Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implicationsHRPT2 mutations are associated with malignancy in sporadic parathyroid tumoursEndocrine neoplasms in familial syndromes of hyperparathyroidismParathyroid cancerSurgery for primary hyperparathyroidismNext generation sequencing in endocrine practiceCdc73 Subunit of Paf1 Complex Contains C-terminal Ras-like Domain That Promotes Association of Paf1 Complex with ChromatinCrystallographic analysis of the conserved C-terminal domain of transcription factor Cdc73 from Saccharomyces cerevisiae reveals a GTPase-like foldDirect interactions between the Paf1 complex and a cleavage and polyadenylation factor are revealed by dissociation of Paf1 from RNA polymerase II.Parafibromin, a component of the human PAF complex, regulates growth factors and is required for embryonic development and survival in adult miceFrequent promoter hypermethylation of the APC and RASSF1A tumour suppressors in parathyroid tumours.The parafibromin tumor suppressor protein interacts with actin-binding proteins actinin-2 and actinin-3.Genic and global functions for Paf1C in chromatin modification and gene expression in Arabidopsis.The human RNA polymerase II-associated factor 1 (hPaf1): a new regulator of cell-cycle progression.The tumor suppressor, parafibromin, mediates histone H3 K9 methylation for cyclin D1 repression.Characterization of a new CDC73 missense mutation that impairs Parafibromin expression and nucleolar localization.New genes with roles in the C. elegans embryo revealed using RNAi of ovary-enriched ORFeome clonesMice deleted for cell division cycle 73 gene develop parathyroid and uterine tumours: model for the hyperparathyroidism-jaw tumour syndromeParathyroid carcinoma: a silent presentationFine-needle aspiration cytology of parathyroid carcinoma mimic hürthle cell thyroid neoplasmGermline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour.Clinical and molecular genetics of parathyroid neoplasmsHypercalcemia in children and adolescents.Genetic characterization of large parathyroid adenomasOncogenic microRNA-155 down-regulates tumor suppressor CDC73 and promotes oral squamous cell carcinoma cell proliferation: implications for cancer therapeutics.Aberrant WNT/β-catenin signaling in parathyroid carcinoma.CDC73 intragenic deletion in familial primary hyperparathyroidism associated with parathyroid carcinomaNovel HRPT2/CDC73 gene mutations and loss of expression of parafibromin in Chinese patients with clinically sporadic parathyroid carcinomasGenome-wide and locus specific alterations in CDC73/HRPT2-mutated parathyroid tumors.Hyperparathyroid genes: sequences reveal answers and questions.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.Cytoplasmic polyadenylation element binding protein is a conserved target of tumor suppressor HRPT2/CDC73.
P2860
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P2860
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
description
2002 nî lūn-bûn
@nan
2002 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
@ast
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
@en
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
@nl
type
label
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
@ast
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
@en
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
@nl
prefLabel
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
@ast
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
@en
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
@nl
P2093
P50
P356
P1433
P1476
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
@en
P2093
A A Pannett
A M Kennedy
A Villablanca
B M Cavaco
B Robinson
C E Jackson
P2888
P304
P356
10.1038/NG1048
P407
P577
2002-11-18T00:00:00Z