Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes (Q35195587)

7 August 2017

Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes (English)

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7 August 2017

xeroderma pigmentosum

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Greenhaw GA

1

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7 August 2017

Hebert A

2

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7 August 2017

Duke-Woodside ME

3

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7 August 2017

Butler IJ

4

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7 August 2017

Hecht JT

5

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7 August 2017

Cleaver JE

6

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7 August 2017

Thomas GH

7

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7 August 2017

Horton WA

8

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7 August 2017

language of work or name

English

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publication date

1 April 1992

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American Journal of Human Genetics

7 August 2017

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7 August 2017

50

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7 August 2017

677-689

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7 August 2017

4

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An autosomal dominant inheritance for multiple sunlight-induced malignancy in a patient without abnormalities in DNA repair or replication. Repository identification No. GM2881.

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682634

A biochemical defect in the repair of alkylated DNA in cells from an immunodeficient patient (46BR).

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682634

Multiple hypersensitivity to mutagens in a cell strain (46BR) derived from a patient with immuno-deficiencies

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682634

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682634

Review and evaluation of molecular weight calculations from the sedimentation profiles of irradiated DNA.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682634

Distinctive skeletal dysplasia in Cockayne syndrome.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682634

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682634

Rapid Diagnosis of Sensitivity to Ultraviolet Light in Fibroblasts From Dermatologic Disorders, With Particular Reference to Xeroderma Pigmentosum

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682634

Diseases with DNA damage-processing defects.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682634

Gene cloning using cDNA libraries in a differential competition hybridization strategy: application to cloning XP-A related genes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682634

Cockayne syndrome: magnetic resonance images of the brain in a severe form with early onset

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682634

MRI in Cockayne syndrome type I.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682634

Molecular cloning of a mouse DNA repair gene that complements the defect of group-A xeroderma pigmentosum

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682634

A childhood neurodegeneration due to defective DNA repair: a novel concept of disease based on studies xeroderma pigmentosum

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682634

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682634

Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682634

Increased UV resistance in xeroderma pigmentosum group A cells after transformation with a human genomic DNA clone

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682634

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682634

Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV-irradiation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682634

DeSanctis-Cacchione syndrome. A case report with autopsy findings

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682634

Excision repair in ataxia telangiectasia, Fanconi's anemia, Cockayne syndrome, and Bloom's syndrome after treatment with ultraviolet radiation and N-acetoxy-2-acetylaminofluorene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682634

Xeroderma pigmentosum neurological abnormalities correlate with colony-forming ability after ultraviolet radiation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682634

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682634

Xeroderma pigmentosum variants

27 September 2018

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12 December 2020

Peripheral neuropathy in four cases of group A xeroderma pigmentosum

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12 December 2020

Primary segmental demyelination in the sural nerve in Cockayne's syndrome

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12 December 2020

Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosum

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12 December 2020

Efficiency of repair of pyrimidine dimers and psoralen monoadducts in normal and xeroderma pigmentosum human cells

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12 December 2020

Mechanisms of inhibition of DNA replication by ultraviolet light in normal human and xeroderma pigmentosum fibroblasts

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12 December 2020

The Cockayne syndrome--an inherited multisystem disorder with cutaneous photosensitivity and defective repair of DNA. Comparison with xeroderma pigmentosum

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12 December 2020

Age effect on dopamine and serotonin metabolite levels in cerebrospinal fluid

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12 December 2020

Three complementation groups in Cockayne syndrome

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12 December 2020

Identifiers

PMCID

1682634

1 reference

7 August 2017

1 reference