(Q34413144)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709298%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

title

A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709298%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

4

1 reference

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1 March 2020

Chao Xing

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709298%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Charis Eng

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709298%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

author name string

Megan N Farley

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709298%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Laura S Schmidt

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709298%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Jessica L Mester

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709298%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Andrea Pavia-Jimenez

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709298%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Alana Christie

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709298%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Cathy D Vocke

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709298%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Christopher J Ricketts

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709298%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

James Peterson

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709298%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Lindsay Middelton

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709298%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Lisa Kinch

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709298%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Nick Grishin

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709298%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Maria J Merino

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709298%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Adam R Metwalli

14

1 reference

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1 March 2020

Xian-Jin Xie

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709298%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Patricia L M Dahia

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709298%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

W Marston Linehan

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709298%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

James Brugarolas

20

1 reference

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1 March 2020

publication date

24 May 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709298%20AND%20SRC:MED&resulttype=core&format=json

Molecular Cancer Research

1 March 2020

published in

1 reference

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1 March 2020

volume

11

1 reference

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1 March 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709298%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

page(s)

1061-1071

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709298%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

Effects on survival of BAP1 and PBRM1 mutations in sporadic clear-cell renal-cell carcinoma: a retrospective analysis with independent validation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

Predicting the functional effect of amino acid substitutions and indels

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

Genetic basis of kidney cancer: role of genomics for the development of disease-based therapeutics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

Clinical and pathologic impact of select chromatin-modulating tumor suppressors in clear cell renal cell carcinoma

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

BAP1 loss defines a new class of renal cell carcinoma

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

Germline mutations in BAP1 predispose to melanocytic tumors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

Germline BAP1 mutations predispose to malignant mesothelioma

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

The nuclear deubiquitinase BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesothelioma

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

An emerging model for BAP1's role in regulating cell cycle progression

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

Frequent mutation of BAP1 in metastasizing uveal melanomas

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

A map of human genome variation from population-scale sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

A method and server for predicting damaging missense mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

The natural history of observed enhancing renal masses: meta-analysis and review of the world literature

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

Chromosome 3 translocations and familial renal cell cancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

Structure of the ubiquitin hydrolase UCH-L3 complexed with a suicide substrate

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

Searching for the hereditary causes of renal-cell carcinoma

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

SIFT: Predicting amino acid changes that affect protein function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

1996 William Allan Award Address. Algorithms and inferences: the challenge of multifactorial diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

Prevalence of germlineBAP1mutation in a population-based sample of uveal melanoma cases

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

Toward an Improved Definition of the Tumor Spectrum Associated WithBAP1Germline Mutations

9 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3

9 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma

9 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211292

Hereditary uveal melanoma: a report of a germline mutation in BAP1

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23709298

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1158/1541-7786.MCR-13-0111

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709298%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709298%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

PubMed publication ID

23709298

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709298%20AND%20SRC:MED&resulttype=core&format=json