(Q41649543)

6 October 2017

Complementation of hypersensitivity to DNA interstrand crosslinking agents demonstrates that XRCC2 is a Fanconi anaemia gene (English)

1 reference

6 October 2017

8

Fowzan S Alkuraya

1 reference

6 October 2017

7

Gail H Vance

1 reference

6 October 2017

Jung-Young Park

1

1 reference

6 October 2017

Elizabeth L Virts

2

1 reference

6 October 2017

Anna Jankowska

3

1 reference

6 October 2017

Constanze Wiek

4

1 reference

6 October 2017

Mohamed Othman

5

1 reference

6 October 2017

Sujata C Chakraborty

6

1 reference

6 October 2017

Helmut Hanenberg

9

1 reference

6 October 2017

Paul R Andreassen

10

1 reference

6 October 2017

language of work or name

English

0 references

publication date

20 May 2016

1 reference

Journal of Medical Genetics

6 October 2017

1 reference

6 October 2017

53

1 reference

6 October 2017

10

1 reference

6 October 2017

672-680

1 reference

A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

AluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Stress and DNA repair biology of the Fanconi anemia pathway

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

PALB2: the hub of a network of tumor suppressors involved in DNA damage responses

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

The Fanconi anemia DNA repair pathway: structural and functional insights into a complex disorder

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Preventing over-resection by DNA2 helicase/nuclease suppresses repair defects in Fanconi anemia cells

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Hypersensitivities for acetaldehyde and other agents among cancer cells null for clinically relevant Fanconi anemia genes

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Rad51 paralog complexes BCDX2 and CX3 act at different stages in the BRCA1-BRCA2-dependent homologous recombination pathway

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Genotoxic consequences of endogenous aldehydes on mouse haematopoietic stem cell function

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

The impact of FANCD2 deficiency on formaldehyde-induced toxicity in human lymphoblastoid cell lines

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Rare mutations in XRCC2 increase the risk of breast cancer

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Formaldehyde catabolism is essential in cells deficient for the Fanconi anemia DNA-repair pathway.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

FANCJ/BRIP1 recruitment and regulation of FANCD2 in DNA damage responses.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Fanconi anemia and its diagnosis

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

PALB2 functionally connects the breast cancer susceptibility proteins BRCA1 and BRCA2.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Inhibition of Nonsense-mediated mRNA Decay by the Natural Product Pateamine A through Eukaryotic Initiation Factor 4AIII

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Fanconi anemia proteins, DNA interstrand crosslink repair pathways, and cancer therapy

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

A role for monoubiquitinated FANCD2 at telomeres in ALT cells

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Cells deficient in the FANC/BRCA pathway are hypersensitive to plasma levels of formaldehyde

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

FANCI is a second monoubiquitinated member of the Fanconi anemia pathway

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

ATR couples FANCD2 monoubiquitination to the DNA-damage response

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Impaired DNA damage-induced nuclear Rad51 foci formation uniquely characterizes Fanconi anemia group D1

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Involvement of Rad51C in two distinct protein complexes of Rad51 paralogs in human cells

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Identification and purification of two distinct complexes containing the five RAD51 paralogs

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Fanconi anemia and DNA repair

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Chromosome instability and defective recombinational repair in knockout mutants of the five Rad51 paralogs

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Complementation analysis in Fanconi anemia: assignment of the reference FA-H patient to group A

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Evidence for simultaneous protein interactions between human Rad51 paralogs

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Mammalian XRCC2 promotes the repair of DNA double-strand breaks by homologous recombination

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Double-strand break repair deficiency and radiation sensitivity in BRCA2 mutant cancer cells

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

The effect of the Fanconi anemia polypeptide, FAC, upon p53 induction and G2 checkpoint regulation.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

A 20-year perspective on the International Fanconi Anemia Registry (IFAR).

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035190

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

18 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103847

Familial constitutional panmyelocytopathy, Fanconi's anemia (F.A.). I. Clinical aspects

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27208205

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27208205

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

BRCA2 is required for ionizing radiation-induced assembly of Rad51 complex in vivo

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27208205

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMEDGENET-2016-103847

1 reference

6 October 2017

1 reference

6 October 2017

PubMed publication ID

27208205

1 reference