(Q28289720)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23623386%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia (English)

1 reference

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29 February 2020

1 reference

1

1 reference

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29 February 2020

Jordi Minguillón

8

1 reference

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29 February 2020

Rocío Baños

12

1 reference

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29 February 2020

Paula Río

13

1 reference

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29 February 2020

Sheila Zuniga

15

1 reference

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29 February 2020

Juan Bueren

17

1 reference

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29 February 2020

Jordi Surrallés

22

1 reference

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29 February 2020

21

Detlev Schindler

1 reference

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29 February 2020

author name string

Beatrice Schuster

2

1 reference

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29 February 2020

Chantal Stoepker

3

1 reference

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29 February 2020

Burak Derkunt

4

1 reference

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29 February 2020

Yan Su

5

1 reference

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29 February 2020

Anja Raams

6

1 reference

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29 February 2020

Juan P Trujillo

7

1 reference

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29 February 2020

María J Ramírez

9

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29 February 2020

Roser Pujol

10

1 reference

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29 February 2020

José A Casado

11

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29 February 2020

Kerstin Knies

14

1 reference

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29 February 2020

Javier Benítez

16

1 reference

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29 February 2020

Nicolaas G J Jaspers

18

1 reference

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29 February 2020

Orlando D Schärer

19

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29 February 2020

Johan P de Winter

20

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29 February 2020

language of work or name

English

0 references

publication date

25 April 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23623386%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

29 February 2020

published in

1 reference

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29 February 2020

volume

92

1 reference

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29 February 2020

page(s)

800-806

1 reference

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29 February 2020

issue

5

1 reference

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Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease

29 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644630

Disruption of mouse Slx4, a regulator of structure-specific nucleases, phenocopies 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=3644630

Mutations of the SLX4 gene 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=3644630

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=3644630

FANCM connects the genome instability disorders Bloom's Syndrome and 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=3644630

First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644630

A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644630

The active site of the DNA repair endonuclease XPF-ERCC1 forms a highly conserved nuclease motif

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644630

Mapping of interaction domains between human repair proteins ERCC1 and XPF

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644630

Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644630

Disruption of mouse ERCC1 results in a novel repair syndrome with growth failure, nuclear abnormalities and senescence

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644630

Growth retardation, early death, and DNA repair defects in mice deficient for the nucleotide excision repair enzyme XPF

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644630

Mice with DNA repair gene (ERCC-1) deficiency have elevated levels of p53, liver nuclear abnormalities and die before weaning

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644630

On the role of FAN1 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=3644630

A mouse model of accelerated liver aging caused by a defect in DNA repair

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644630

Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644630

Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644630

A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644630

Analysis of incision sites produced by human cell extracts and purified proteins during nucleotide excision repair of a 1,3-intrastrand d(GpTpG)-cisplatin adduct

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644630

The Fanconi anemia pathway promotes replication-dependent DNA interstrand cross-link repair

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644630

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=3644630

Fanconi anemia and breast cancer susceptibility meet again

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644630

A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU).

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644630

Characteristics of lentiviral vectors harboring the proximal promoter of the vav proto-oncogene: a weak and efficient promoter for gene therapy

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644630

10.1016/J.AJHG.2013.04.002

27 November 2018

Identifiers

DOI

2 references

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29 February 2020

1 reference

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29 February 2020

2 references

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