(Q41465447)

1 October 2017

Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy (English)

1 reference

1 October 2017

xeroderma pigmentosum

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xeroderma pigmentosum group D

inferred from title

1 reference

Broughton BC

1

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1 October 2017

Steingrimsdottir H

series ordinal

2

1 reference

1 October 2017

Weber CA

series ordinal

3

1 reference

1 October 2017

Lehmann AR

series ordinal

4

1 reference

1 October 2017

language of work or name

English

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publication date

1 June 1994

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1 October 2017

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1 October 2017

7

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1 October 2017

189-194

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1 October 2017

2

1 reference

https://scigraph.springernature.com/pub.10.1038/ng0694-189

1 October 2017

0 references

cites work

Molecular cloning and biological characterization of a human gene, ERCC2, that corrects the nucleotide excision repair defect in CHO UV5 cells

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-189

Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-189

Analysis of the essential and excision repair functions of the RAD3 gene of Saccharomyces cerevisiae by mutagenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-189

Nucleotide excision repair. II: From yeast to mammals

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-189

7 January 2021

Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-189

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-189

7 January 2021

DNA repair investigations in nine Italian patients affected by trichothiodystrophy.

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-189

7 January 2021

Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-189

7 January 2021

DNA repair and cancer: speculations based on studies with xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy.

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-189

7 January 2021

Workshop on DNA repair

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-189

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-189

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-189

7 January 2021

Cloning and characterisation of the S. pombe rad15 gene, a homologue to the S. cerevisiae RAD3 and human ERCC2 genes

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-189

7 January 2021

The Schizosaccharomyces pombe rhp3+ gene required for DNA repair and cell viability is functionally interchangeable with the RAD3 gene of Saccharomyces cerevisiae

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-189

7 January 2021

RAD3 protein of Saccharomyces cerevisiae is a DNA helicase

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-189

7 January 2021

Human xeroderma pigmentosum group D gene encodes a DNA helicase

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-189

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-189

7 January 2021

Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-189

7 January 2021

Dual roles of a multiprotein complex from S. cerevisiae in transcription and DNA repair

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-189

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-189

7 January 2021

Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-189

7 January 2021

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-189

7 January 2021

DNA.RNA helicase activity of RAD3 protein of Saccharomyces cerevisiae

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-189

7 January 2021

Effects of multiple yeast rad3 mutant alleles on UV sensitivity, mutability, and mitotic recombination

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-189

7 January 2021

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-189

7 January 2021

The RAD3 gene is a member of the DEAH family RNA helicase-like protein

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-189

7 January 2021

General method for direct cloning of DNA fragments generated by the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-189

7 January 2021

Identifiers

DOI

10.1038/NG0694-189

1 reference

Dimensions Publication ID

1 October 2017

0 references

1 reference