Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome (Q24672295)

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English	Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome	scientific article

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scholarly article

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Europe PubMed Central

Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome (English)

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based on heuristic

inferred from title

xeroderma pigmentosum

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based on heuristic

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Cockayne syndrome

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Jan Hoeijmakers

5

object named as

J H Hoeijmakers

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author name string

B C Broughton

1

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A F Thompson

2

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S A Harcourt

3

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W Vermeulen

4

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E Botta

6

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M Stefanini

7

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M D King

8

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C A Weber

9

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J Cole

10

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language of work or name

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publication date

January 1995

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American Journal of Human Genetics

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56

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1

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167-74

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The ERCC2/DNA repair protein is associated with the class II BTF2/TFIIH transcription factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

7 April 2017

Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

7 April 2017

RAD3 protein of Saccharomyces cerevisiae is a DNA helicase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

7 April 2017

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=1801309

7 April 2017

Human xeroderma pigmentosum group D gene encodes a DNA helicase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

28 September 2017

Xeroderma pigmentosum complementation group G associated with Cockayne syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

28 September 2017

A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

28 September 2017

Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

28 September 2017

Mutation of lysine-48 to arginine in the yeast RAD3 protein abolishes its ATPase and DNA helicase activities but not the ability to bind ATP.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

28 September 2017

The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

28 September 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

28 September 2017

The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

28 September 2017

DNA repair investigations in nine Italian patients affected by trichothiodystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

28 September 2017

Cockayne syndrome: Review of 140 cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

28 September 2017

Repair replication in cultured normal and transformed human fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

28 September 2017

Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

30 May 2018

Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

30 May 2018

Lack of complementation between xeroderma pigmentosum complementation groups D and H.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

30 May 2018

Substrate specificity of the Rad3 ATPase/DNA helicase of Saccharomyces cerevisiae and binding of Rad3 protein to nucleic acids.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

30 May 2018

A rapid procedure for measurement of DNA repair in human fibroblasts and for complementation analysis of xeroderma pigmentosum cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

30 May 2018

Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801309

28 November 2018

[Photosensitization and DNA repair. Possible nosologic relationship between Xeroderma pigmentosum and Cockayne's syndrome]

1 reference

https://pubmed.ncbi.nlm.nih.gov/7825573

12 December 2020

based on heuristic

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Three complementation groups in Cockayne syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7825573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Excision repair in Cockayne syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7825573

12 December 2020

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Prenatal diagnosis of Cockayne's syndrome

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https://pubmed.ncbi.nlm.nih.gov/7825573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

(6-4)Photoproducts are removed from the DNA of UV-irradiated mammalian cells more efficiently than cyclobutane pyrimidine dimers

1 reference

https://pubmed.ncbi.nlm.nih.gov/7825573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Xeroderma pigmentosum complementation group H falls into complementation group D

1 reference

https://pubmed.ncbi.nlm.nih.gov/7825573

12 December 2020

based on heuristic

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Workshop on DNA repair

1 reference

https://pubmed.ncbi.nlm.nih.gov/7825573

12 December 2020

based on heuristic

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Hypersensitivity of human lymphocytes to UV-B and solar irradiation

1 reference

https://pubmed.ncbi.nlm.nih.gov/7825573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA repair. Engagement with transcription

1 reference

https://pubmed.ncbi.nlm.nih.gov/7825573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Metabolic processing of cyclobutyl pyrimidine dimers and (6-4) photoproducts in UV-treated human cells. Evidence for distinct excision-repair pathways

1 reference

https://pubmed.ncbi.nlm.nih.gov/7825573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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