A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity

Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair

(2012) Yuka Nakazawa et al.   NATURE GENETICS

Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair

(2012) Xue Zhang et al.   NATURE GENETICS

UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair

(2012) Petra Schwertman et al.   NATURE GENETICS

A Postincision-Deficient TFIIH Causes Replication Fork Breakage and Uncovers Alternative Rad51- or Pol32-Mediated Restart Mechanisms

(2010) María Moriel-Carretero et al.   MOLECULAR CELL

A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage

(2009) T. Nardo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structure of the DNA Repair Helicase XPD

(2008) Huanting Liu et al.   CELL

XPD Helicase Structures and Activities: Insights into the Cancer and Aging Phenotypes from XPD Mutations

(2008) Li Fan et al.   CELL

Transcriptional changes in trichothiodystrophy cells

(2008) Judith Offman et al.   DNA REPAIR

Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2)

(2008) Steffen Emmert et al.   EXPERIMENTAL DERMATOLOGY

Persistence of repair proteins at unrepaired DNA damage distinguishes diseases withERCC2(XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy

(2008) Jennifer Boyle et al.   HUMAN MUTATION

Transcription-coupled DNA repair: two decades of progress and surprises

(2008) Philip C. Hanawalt et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Crystal Structure of the FeS Cluster–Containing Nucleotide Excision Repair Helicase XPD

(2008) Stefanie C Wolski et al.   PLOS BIOLOGY