Functional and molecular genetic analyses of nine newly identifiedXPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes

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

(2012) Tzipora C. Falik-Zaccai et al.   ENVIRONMENTAL AND MOLECULAR MUTAGENESIS

Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations

(2012) Annika Schäfer et al.   EXPERIMENTAL DERMATOLOGY

Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities

(2012) Shinichi Moriwaki et al.   EXPERIMENTAL DERMATOLOGY

Skin cancer in organ transplant recipients: effects of immunosuppressive medications on DNA repair

(2011) Christiane Kuschal et al.   EXPERIMENTAL DERMATOLOGY

Cyclosporin A inhibits nucleotide excision repair via downregulation of the xeroderma pigmentosum group A and G proteins, which is mediated by calcineurin inhibition

(2011) Christiane Kuschal et al.   EXPERIMENTAL DERMATOLOGY

Cyclosporin A, but not everolimus, inhibits DNA repair mediated by calcineurin: implications for tumorigenesis under immunosuppression

(2011) Kai-Martin Thoms et al.   EXPERIMENTAL DERMATOLOGY

A Japanese trichothiodystrophy patient with XPD mutations

(2010) Touhei Usuda et al.   JOURNAL OF HUMAN GENETICS

DNA Repair in Mammalian Cells

(2009) T. Nouspikel   CELLULAR AND MOLECULAR LIFE SCIENCES

Trichothiodystrophy: From basic mechanisms to clinical implications

(2009) M. Stefanini et al.   DNA REPAIR

BothXPDalleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients

(2009) Takahiro Ueda et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

(2008) Li Fan et al.   CELL

XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms

(2008) Sikandar G. Khan 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