(Q28118199)

4 January 2017

title

A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay (English)

1 reference

BRCA2 DNA repair associated

4 January 2017

main subject

1 reference

double-strand break repair via homologous recombination

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

1 reference

Kajal Biswas

1

1 reference

4 January 2017

Ranabir Das

2

1 reference

4 January 2017

Blanche P. Alter

3

1 reference

4 January 2017

Sergey G. Kuznetsov

4

1 reference

4 January 2017

Stacey Stauffer

5

1 reference

4 January 2017

Susan L. North

6

1 reference

4 January 2017

Sandra Burkett

7

1 reference

4 January 2017

Lawrence C. Brody

8

1 reference

4 January 2017

Stefan Meyer

9

1 reference

4 January 2017

R. Andrew Byrd

10

1 reference

4 January 2017

Shyam K. Sharan

11

1 reference

4 January 2017

language of work or name

English

0 references

publication date

1 September 2011

1 reference

4 January 2017

1 reference

4 January 2017

volume

118

1 reference

4 January 2017

issue

9

1 reference

4 January 2017

page(s)

2430–2442

1 reference

describes a project that uses

4 January 2017

ImageQuant

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3167357/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Direct interaction of FANCD2 with BRCA2 in DNA damage response pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Susceptibility pathways in Fanconi's anemia and breast cancer

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

How the fanconi anemia pathway guards the genome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Simple and highly efficient BAC recombineering using galK selection

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

DSS1 is required for the stability of BRCA2

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Phosphorylation of BRCA2 by the Polo-like kinase Plk1 is regulated by DNA damage and mitotic progression

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Direct interaction of the Fanconi anaemia protein FANCG with BRCA2/FANCD1

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

DSS1 is required for RAD51 focus formation and genomic stability in mammalian cells

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Biallelic inactivation of BRCA2 in Fanconi anemia

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Alternative pre-mRNA splicing and proteome expansion in metazoans

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

PALB2/FANCN: recombining cancer and Fanconi anemia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Functional assays for classification of BRCA2 variants of uncertain significance

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Fanconi anaemia genes and susceptibility to cancer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Minigene reporter for identification and analysis of cis elements and trans factors affecting pre-mRNA splicing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Molecular pathogenesis of Fanconi anemia: recent progress

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

The Fanconi Anemia/BRCA pathway: new faces in the crowd

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Prevalence of BRCA mutations and founder effect in high-risk Hispanic families

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

A cross-linker-sensitive myeloid leukemia cell line from a 2-year-old boy with severe Fanconi anemia and biallelic FANCD1/BRCA2 mutations.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Systematic identification and analysis of exonic splicing silencers.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

A simple two-step, 'hit and fix' method to generate subtle mutations in BACs using short denatured PCR fragments

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Genetic reversion in an acute myelogenous leukemia cell line from a Fanconi anemia patient with biallelic mutations in BRCA2

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

The BRCA2 genetic variant IVS7 + 2T-->G is a mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Increased level of exon 12 alternatively spliced BRCA2 transcripts in tumor breast tissue compared with normal tissue

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Improved splice site detection in Genie

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Mutation of the RAD51C gene in a Fanconi anemia-like disorder

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167357

Evaluation of BRCA2 in the genetic susceptibility of familial esophageal cancer

27 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/21719596

12 December 2020

inferred from PubMed ID database lookup

TISA: tissue-specific alternative splicing in human and mouse genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/21719596

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1182/BLOOD-2010-12-324541

0 references

Fatcat ID

release_xefawvn35rh4dbtazflxfmrmzm

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/xefawvn35rh4dbtazflxfmrmzm

24 November 2022

mapped directly with Wikidata item

PMC publication ID

3167357

0 references

1 reference