HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours - Wikidata - awgldk - TriplyDB

HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours

HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours

http://www.wikidata.org/entity/Q24676397

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The HRPT2 tumor suppressor gene product parafibromin associates with human PAF1 and RNA polymerase II The parafibromin tumor suppressor protein inhibits cell proliferation by repression of the c-myc proto-oncogene The tumor suppressor Cdc73 functionally associates with CPSF and CstF 3' mRNA processing factors The parafibromin tumor suppressor protein is part of a human Paf1 complex Endocrine neoplasms in familial syndromes of hyperparathyroidism Parathyroid cancer Genetic and epigenetic changes in sporadic endocrine tumors: parathyroid tumors Parafibromin, a component of the human PAF complex, regulates growth factors and is required for embryonic development and survival in adult mice Genomic profiling reveals mutational landscape in parathyroid carcinomas Parafibromin, 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.Human synthetic lethal inference as potential anti-cancer target gene detection The tumor suppressor, parafibromin, mediates histone H3 K9 methylation for cyclin D1 repression.Parathyroid carcinoma in pregnancy.Parathyroid carcinoma: a silent presentation Fine-needle aspiration cytology of parathyroid carcinoma mimic hürthle cell thyroid neoplasm Clinical and molecular genetics of parathyroid neoplasms Genetic characterization of large parathyroid adenomas Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas.CDC73 intragenic deletion in familial primary hyperparathyroidism associated with parathyroid carcinoma Novel HRPT2/CDC73 gene mutations and loss of expression of parafibromin in Chinese patients with clinically sporadic parathyroid carcinomas Genome-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.Primary hyperparathyroidism: an overview.Parathyroid carcinoma: a review with three illustrative cases.Parathyroid carcinoma: current understanding and new insights into gene expression and intraoperative parathyroid hormone kinetics A Comprehensive Overview of Skeletal Phenotypes Associated with Alterations in Wnt/β-catenin Signaling in Humans and Mice.Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism.The Roles of the Paf1 Complex and Associated Histone Modifications in Regulating Gene Expression Diagnostic performance of parafibromin immunohistochemical staining for sporadic parathyroid carcinoma: a meta-analysis.Downregulated parafibromin expression is a promising marker for pathogenesis, invasion, metastasis and prognosis of gastric carcinomas.Metastatic calcifications and severe hypercalcemia in a patient with parathyroid carcinoma.Allelic imbalance in sporadic parathyroid carcinoma and evidence for its de novo origins.Significance of Parafibromin Expression in Laryngeal Squamous Cell Carcinomas Non-functional parathyroid carcinoma: a review of the literature and report of a case requiring extensive surgery.Dephosphorylated parafibromin is a transcriptional coactivator of the Wnt/Hedgehog/Notch pathways.Hyperparathyroidism 2 gene (HRPT2, CDC73) and parafibromin studies in two patients with primary hyperparathyroidism and uncertain pathological assessment CDC73 mutational status and loss of parafibromin in the outcome of parathyroid cancer.

P2860

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P2860

HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours

http://www.wikidata.org/entity/Q24676397

description

2003 nî lūn-bûn

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2003 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2003 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2003年の論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年论文

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name

HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours

@ast

HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours

@en

HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours

@nl

type

label

HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours

@ast

HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours

@en

HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours

@nl

prefLabel

HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours

@ast

HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours

@en

HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours

@nl

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Journal of Medical Genetics

P1476

HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours

@en

P2093

A E Nelson

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B G Robinson

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C Hoang-Vu

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C J Haven

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D J Marsh

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D Petillo

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G J Fleuren

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H Dralle

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H Morreau

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J Chen

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P2860

Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31

Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus

Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1

Positional cloning of the gene for multiple endocrine neoplasia-type 1

A high-resolution recombination map of the human genome

Hyperparathyroid and hypoparathyroid disorders.

HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.

Cyclin D1/PRAD1 expression in parathyroid adenomas: an immunohistochemical study.

Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders

Molecular cloning and chromosomal mapping of DNA rearranged with the parathyroid hormone gene in a parathyroid adenoma.

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12960210

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