FAQ

Xeroderma Pigmentosum, Complementation Group D

Known as: XPH, FORMERLY, Xeroderma Pigmentosum Group D, XP4 XERODERMA PIGMENTOSUM VIII, FORMERLY 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1963-2018
0204019632018

Related topics

Related topics

29 relations
Actinic keratosisAngiomaAtaxiaAtrophic condition of skin
(More)

Broader (1)

Xeroderma Pigmentosum

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Xeroderma Pigmentosum, Complementation Group D
Ataxia
Autosomal recessive inheritance
Sensorineural Hearing Loss (disorder)
Keratitis
Telangiectasis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
Xeroderma pigmentosum complementation group D (XPD) gene polymorphisms contribute to bladder cancer risk: a meta-analysis
Numerous epidemiological studies have been conducted to investigate the association between Xeroderma pigmentosum complementation… (More)
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Highly Cited
2013
Highly Cited
2013
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.
Cockayne syndrome (CS) is a genetic disorder characterized by developmental abnormalities and photodermatosis resulting from the… (More)
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Highly Cited
2006
Highly Cited
2006
The DNA repair helicases XPD and FancJ have essential iron-sulfur domains.
DNA helicases are essential components of the cellular machinery for DNA replication, recombination, repair, and transcription… (More)
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Highly Cited
2004
Highly Cited
2004
Single nucleotide polymorphisms in breast cancer.
A limited number of genes have been identified that explain heritable risks of breast cancer (BC). We searched for low-penetrant… (More)
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Highly Cited
2000
Highly Cited
2000
XPD/ERCC2 polymorphisms and risk of head and neck cancer: a case-control analysis.
DNA repair capacity is central in maintaining normal cellular functions. Variants of several DNA repair genes,including the… (More)
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Highly Cited
1999
Highly Cited
1999
Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7.
To understand the initiation of the transcription of protein-coding genes, we have dissected the role of the basal transcription… (More)
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Highly Cited
1998
Highly Cited
1998
Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH
In most cases, xeroderma pigmentosum group D (XP-D) and trichothiodystrophy (TTD) patients carry mutations in the carboxy… (More)
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1997
1997
Retrovirus-mediated gene transfer corrects DNA repair defect of xeroderma pigmentosum cells of complementation groups A, B and C
With the aim to devise a long-term gene therapy protocol for skin cancers in individuals affected by the inherited autosomal… (More)
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Highly Cited
1994
Highly Cited
1994
Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II.
The RNA polymerase II general transcription factor TFIIH is composed of several polypeptides. The observation that the largest… (More)
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Highly Cited
1993
Highly Cited
1993
Human xeroderma pigmentosum group D gene encodes a DNA helicase.
Xeroderma pigmentosum (XP), a genetically heterogeneous human disease, results from a defect in nucleotide excision repair of… (More)
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