(Q50198732)

26 February 2018

title

Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia. (English)

1 reference

26 February 2018

author

Dominique Stoppa-Lyonnet

7

object named as

Dominique Stoppa-Lyonnet

1 reference

26 February 2018

Dominique Bluteau

2

0 references

James Lespinasse

3

object named as

James Lespinasse

1 reference

26 February 2018

Thierry Leblanc

8

object named as

Thierry Leblanc

1 reference

26 February 2018

author name string

Massimo Bogliolo

1

1 reference

26 February 2018

Roser Pujol

4

1 reference

26 February 2018

Nadia Vasquez

5

1 reference

26 February 2018

Catherine Dubois d'Enghien

6

1 reference

26 February 2018

Jean Soulier

9

1 reference

26 February 2018

Jordi Surrallés

10

1 reference

26 February 2018

language of work or name

English

0 references

publication date

24 August 2017

1 reference

26 February 2018

published in

Genetics in Medicine

1 reference

26 February 2018

https://scigraph.springernature.com/pub.10.1038/gim.2017.124

exact match

0 references

cites work

How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi Anemia in the United States and Israel

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.124

Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.124

DNA interstrand crosslink repair and cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.124

Biallelic inactivation of REV7 is associated with Fanconi anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.124

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.124

A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.124

Selective accumulation of virus-specific CD8+ T cells within the peripheral blood stem cell compartment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.124

Functions and regulation of the multitasking FANCM family of DNA motor proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.124

Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.124

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.124

FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.124

DNA helicases FANCM and DDX11 are determinants of PARP inhibitor sensitivity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.124

Diagnosis of Fanconi anemia in patients with bone marrow failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.124

Fancm-deficient mice reveal unique features of Fanconi anemia complementation group M.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.124

The Walker B motif in avian FANCM is required to limit sister chromatid exchanges but is dispensable for DNA crosslink repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.124

S-phase-specific interaction of the Fanconi anemia protein, FANCD2, with BRCA1 and RAD51

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.124

Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.124

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.124

Detection of somatic mosaicism and classification of Fanconi anemia patients by analysis of the FA/BRCA pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.124

7 January 2021

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.124

7 January 2021

inferred from DOI database lookup

Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28837157

12 December 2020

inferred from PubMed ID database lookup

Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28837157

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/GIM.2017.124

1 reference

26 February 2018

PubMed ID

28837157

1 reference

26 February 2018