No apparent neurologic defect in a patient with xeroderma pigmentosum complementation group D

1988 ◽  
Vol 124 (2) ◽  
pp. 256-260 ◽  
Author(s):  
M. Ichihashi
Keyword(s):  
Xeroderma Pigmentosum ◽  
Complementation Group ◽  
Group D

A 10-year follow-up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole-genome sequencing

2016 ◽  
Vol 32 (4) ◽  
pp. 174-180 ◽  
Author(s):  
Ryusuke Ono ◽  
Taro Masaki ◽  
Franklin Mayca Pozo ◽  
Yuka Nakazawa ◽  
Sigrid M. A. Swagemakers ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Xeroderma Pigmentosum ◽  
Complementation Group ◽  
Whole Genome ◽  
Mild Case ◽  
Group D

scholarly journals Xeroderma pigmentosum complementation group H falls into complementation group D

1991 ◽  
Vol 255 (2) ◽  
pp. 201-208 ◽  
Author(s):  
W. Vermeulen ◽  
M. Stefanini ◽  
S. Giliani ◽  
J.H.J. Hoeijmakers ◽  
D. Bootsma
Keyword(s):  
Xeroderma Pigmentosum ◽  
Complementation Group ◽  
Group D

Malignant schwannoma associated with xeroderma pigmentosum in a patient belonging to complementation group D

1991 ◽  
Vol 25 (2) ◽  
pp. 349-353 ◽  
Author(s):  
Takehiko Nakamura ◽  
Tomomichi Ono ◽  
Koji Yoshimura ◽  
Tatsuyoshi Arao ◽  
Seiji Kondo ◽  
...  
Keyword(s):  
Xeroderma Pigmentosum ◽  
Complementation Group ◽  
Malignant Schwannoma ◽  
Group D

The XPD helicase: XPanDing archaeal XPD structures to get a grip on human DNA repair

2010 ◽  
Vol 391 (7) ◽  
Author(s):  
Stefanie C. Wolski ◽  
Jochen Kuper ◽  
Caroline Kisker
Keyword(s):  
Transcription Initiation ◽  
Xeroderma Pigmentosum ◽  
Excision Repair ◽  
Complementation Group ◽  
Iron Sulfur Cluster ◽  
Sulfur Cluster ◽  
Iron Sulfur ◽  
Nucleotide Excision ◽  
Xpd Helicase ◽  
Group D

Abstract Xeroderma pigmentosum complementation group D protein (XPD) is an iron-sulfur cluster containing 5′-3′ helicase and, in humans, part of the transcription factor TFIIH. TFIIH is involved in nucleotide excision repair as well as in transcription initiation. Recently, three different groups have reported the structures of archaeal XPDs. All structures revealed a four-domain organization with two RecA-like domains, an Arch domain and an iron-sulfur cluster domain. It was possible to rationalize several of the mutations in the human XPD gene that lead to one of the three severe diseases xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. The different structures are compared and disease-related mutations are discussed.

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