(Q40540731)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213812 AND SRC:MED&resulttype=core&format=json

27 October 2019

title

A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy (English)

1 reference

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27 October 2019

0 references

Stefanini M

1

1 reference

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27 October 2019

Vermeulen W

2

1 reference

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27 October 2019

Weeda G

3

1 reference

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27 October 2019

Giliani S

4

1 reference

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27 October 2019

Nardo T

5

1 reference

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27 October 2019

Mezzina M

6

1 reference

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27 October 2019

Sarasin A

7

1 reference

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27 October 2019

Harper JI

8

1 reference

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27 October 2019

Arlett CF

9

1 reference

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27 October 2019

Hoeijmakers JH

10

1 reference

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27 October 2019

language of work or name

English

0 references

publication date

1 October 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213812 AND SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

27 October 2019

published in

1 reference

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27 October 2019

volume

53

1 reference

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27 October 2019

issue

4

1 reference

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27 October 2019

page(s)

817-821

1 reference

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describes a project that uses

27 October 2019

TTD1BR

0 references

cites work

DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682382

Molecular genetics of eukaryotic DNA excision repair

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682382

ERCC2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682382

A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682382

Correction of xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: involvement of the human ERCC2 DNA repair gene

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682382

Cloning and characterization of the Drosophila homolog of the xeroderma pigmentosum complementation-group B correcting gene, ERCC3.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682382

DNA repair investigations in nine Italian patients affected by trichothiodystrophy.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682382

Guanylyl cyclase receptors and their endocrine, paracrine, and autocrine ligands

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682382

Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682382

Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682382

Immune function, mutant frequency, and cancer risk in the DNA repair defective genodermatoses xeroderma pigmentosum, Cockayne's syndrome, and trichothiodystrophy

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682382

A Drosophila model for xeroderma pigmentosum and Cockayne's syndrome: haywire encodes the fly homolog of ERCC3, a human excision repair gene

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682382

Identification of the eleventh complementation group of UV-sensitive excision repair-defective rodent mutants

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682382

SSL2, a suppressor of a stem-loop mutation in the HIS4 leader encodes the yeast homolog of human ERCC-3

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682382

Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682382

Relationship between pyrimidine dimers, 6-4 photoproducts, repair synthesis and cell survival: studies using cells from patients with trichothiodystrophy

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682382

Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBIDS syndrome)

20 August 2018

1 reference

12 December 2020

The cloned human DNA excision repair gene ERCC-1 fails to correct xeroderma pigmentosum complementation groups A through I

1 reference

12 December 2020

Xeroderma pigmentosum complementation group H falls into complementation group D

1 reference

12 December 2020

Workshop on DNA repair

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213812 AND SRC:MED&resulttype=core&format=json

27 October 2019

PubMed publication ID

8213812

1 reference