(Q34993892)

English

Defective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndrome

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Defective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

hyperparathyroidism-jaw tumor syndrome

0 references

hyperparathyroidism

1 reference

based on heuristic

inferred from title

author name string

Leelamma M Panicker

1

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Jian-Hua Zhang

2

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Pradeep K Dagur

3

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Matthew J Gastinger

4

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

William F Simonds

5

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

publication date

18 May 2010

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Endocrine-Related Cancer

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

17

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

513-524

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

The parafibromin tumor suppressor protein inhibits cell proliferation by repression of the c-myc proto-oncogene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098453

8 July 2018

The Pfam protein families database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098453

8 July 2018

Nucleolar localization of parafibromin is mediated by three nucleolar localization signals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098453

8 July 2018

Clustal W and Clustal X version 2.0

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098453

8 July 2018

Nuclear localization of the parafibromin tumor suppressor protein implicated in the hyperparathyroidism-jaw tumor syndrome enhances its proapoptotic function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098453

8 July 2018

Parafibromin inhibits cancer cell growth and causes G1 phase arrest

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098453

8 July 2018

The human PAF complex coordinates transcription with events downstream of RNA synthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098453

8 July 2018

The HRPT2 tumor suppressor gene product parafibromin associates with human PAF1 and RNA polymerase II

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098453

8 July 2018

The parafibromin tumor suppressor protein is part of a human Paf1 complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098453

8 July 2018

Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098453

8 July 2018

Menin missense mutants associated with multiple endocrine neoplasia type 1 are rapidly degraded via the ubiquitin-proteasome pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098453

8 July 2018

Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098453

8 July 2018

Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098453

8 July 2018

Somatic and Germ-Line Mutations of theHRPT2Gene in Sporadic Parathyroid Carcinoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098453

8 July 2018

HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098453

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098453

8 July 2018

Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098453

8 July 2018

Mutations in the tumor suppressors Smad2 and Smad4 inactivate transforming growth factor beta signaling by targeting Smads to the ubiquitin-proteasome pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098453

8 July 2018

A complex containing RNA polymerase II, Paf1p, Cdc73p, Hpr1p, and Ccr4p plays a role in protein kinase C signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098453

8 July 2018

Cdc73p and Paf1p are found in a novel RNA polymerase II-containing complex distinct from the Srbp-containing holoenzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098453

8 July 2018

Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21-q32 and loss of the wild type allele in renal hamartomas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098453

8 July 2018

Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098453

26 October 2018

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098453

26 October 2018

Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098453

26 October 2018

Familial cystic parathyroid adenomatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20304979

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial isolated hyperparathyroidism maps to the hyperparathyroidism-jaw tumor locus in 1q21-q32 in a subset of families

1 reference

https://pubmed.ncbi.nlm.nih.gov/20304979

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors

1 reference

https://pubmed.ncbi.nlm.nih.gov/20304979

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20304979

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20304979

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Surveillance for early detection of aggressive parathyroid disease: carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20304979

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1677/ERC-09-0272

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

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