(Q34562678)

3 August 2017

title

Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome (English)

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3 August 2017

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xeroderma pigmentosum

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inferred from title

phenotypic heterogeneity

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Kyu-Seon Oh

1

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3 August 2017

Sikandar G Khan

2

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3 August 2017

N G J Jaspers

3

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3 August 2017

Anja Raams

4

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3 August 2017

Takahiro Ueda

5

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3 August 2017

Alan Lehmann

6

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3 August 2017

Peter S Friedmann

7

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3 August 2017

Steffen Emmert

8

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3 August 2017

Alexi Gratchev

9

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3 August 2017

Katherine Lachlan

10

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3 August 2017

Anneke Lucassan

11

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3 August 2017

Carl C Baker

12

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3 August 2017

Kenneth H Kraemer

13

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3 August 2017

language of work or name

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1 November 2006

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3 August 2017

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3 August 2017

volume

27

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3 August 2017

issue

11

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3 August 2017

page(s)

1092-1103

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Normal pressure hydrocephalus. Recognition and relationship to neurological abnormalities in Cockayne's syndrome

3 August 2017

cites work

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https://api.crossref.org/works/10.1002%2FHUMU.20392

Characterization of ERCC3 mutations in the Chinese hamster ovary 27-1, UV24 and MMC-2 cell lines

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

Rapid assessment of repair of ultraviolet DNA damage with a modified host-cell reactivation assay using a luciferase reporter gene and correlation with polymorphisms of DNA repair genes in normal human lymphocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

Cockayne syndrome and xeroderma pigmentosum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

Molecular cloning and biological characterization of the human excision repair gene ERCC-3

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

Rare case of Cockayne syndrome with xeroderma pigmentosum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

Trichothiodystrophy, a transcription syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.20392

1 reference

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

Phosphorylation of XPB helicase regulates TFIIH nucleotide excision repair activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

The 14th Datta Lecture. TFIIH: from transcription to clinic

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

The xeroderma pigmentosum group C gene leads to selective repair of cyclobutane pyrimidine dimers rather than 6-4 photoproducts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

The human XPG gene: gene architecture, alternative splicing and single nucleotide polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

Conserved XPB core structure and motifs for DNA unwinding: implications for pathway selection of transcription or excision repair

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

Human nucleotide excision repair syndromes: molecular clues to unexpected intricacies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

The total amount of DNA damage determines ultraviolet-radiation-induced cytotoxicity after uniformor localized irradiation of human cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

Anti-tumour compounds illudin S and Irofulven induce DNA lesions ignored by global repair and exclusively processed by transcription- and replication-coupled repair pathways.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

Xeroderma pigmentosum

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

From proteomics to disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

Automated splicing mutation analysis by information theory

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

Cockayne syndrome: Review of 140 cases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

Xeroderma Pigmentosum Treated With Oral Methoxsalen

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

Retracted: A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

Sequence walkers: a graphical method to display how binding proteins interact with DNA or RNA sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

A temperature-sensitive disorder in basal transcription and DNA repair in humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

Ocular melanomas in xeroderma pigmentosum

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

Characterization of the mouse homolog of the XPBC/ERCC-3 gene implicated in xeroderma pigmentosum and Cockayne's syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

TFIIH with inactive XPD helicase functions in transcription initiation but is defective in DNA repair.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20392

7 January 2021

Identifiers

DOI

10.1002/HUMU.20392

1 reference

3 August 2017

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