Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship (Q24644678)

Europe PubMed Central

title

Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship (English)

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main subject

xeroderma pigmentosum

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K H Kraemer

1

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N J Patronas

2

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R Schiffmann

3

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B P Brooks

4

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D Tamura

5

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J J DiGiovanna

Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo

6

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language of work or name

English

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publication date

14 April 2007

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published in

Neuroscience

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volume

145

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issue

4

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page(s)

1388-96

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cites work

1 reference

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A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy

7 April 2017

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Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy

7 April 2017

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The transcriptional response after oxidative stress is defective in Cockayne syndrome group B cells

27 September 2017

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27 September 2017

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Xeroderma pigmentosum/cockayne syndrome complex: first neuropathological study and review of eight other cases

27 September 2017

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Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes

27 September 2017

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Cockayne syndrome and xeroderma pigmentosum

27 September 2017

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Xeroderma pigmentosum and the role of UV-induced DNA damage in skin cancer.

27 September 2017

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The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm

27 September 2017

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

27 September 2017

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27 September 2017

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Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients

27 September 2017

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Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy

30 May 2018

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

30 May 2018

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Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset form.

30 May 2018

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Structural and molecular hair abnormalities in trichothiodystrophy.

30 May 2018

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From proteomics to disease

28 November 2018

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Clinically asymptomatic xeroderma pigmentosum neurological disease in an adult: evidence for a neurodegeneration in later life caused by defective DNA repair.

28 November 2018

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Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex.

28 November 2018

1 reference

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The oxidative DNA lesion 8,5'-(S)-cyclo-2'-deoxyadenosine is repaired by the nucleotide excision repair pathway and blocks gene expression in mammalian cells

28 November 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/17276014

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.NEUROSCIENCE.2006.12.020

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.NEUROSCIENCE.2006.12.020

1 reference

release_6vf6hyphqnhvfhehteamsfk2xe

2067990

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/6vf6hyphqnhvfhehteamsfk2xe

mapped directly with Wikidata item

24 November 2022

based on heuristic

2067990

1 reference

1 reference

1 reference