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Human Molecular Genetics|November 16, 2001
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD geneB C Broughton, M Berneburg, H Fawcett, et al.
The Pharmacogenomics Journal|December 9, 2015
CRTC2 polymorphism as a risk factor for the incidence of metabolic syndrome in patients with solid organ transplantationL Quteineh, P-Y Bochud, D Golshayan, et al.
Brain : a Journal of Neurology|December 1, 2023
Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progressionHector Garcia-Moreno, Douglas R Langbehn, Adesoji Abiona, et al.
Diabetes|July 2, 1999
Long-term survival and function of intrahepatic islet allografts in baboons treated with humanized anti-CD154N S Kenyon, L A Fernandez, R Lehmann, et al.
Teratogenesis, Carcinogenesis, and Mutagenesis|November 14, 2000
Molecular methods for the detection of mutationsC Monteiro, L A Marcelino, A R Conde, et al.
American Journal of Human Genetics|March 22, 2016
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient TrichothiodystrophyChristiane Kuschal, Elena Botta, Donata Orioli, et al.
British Journal of Sports Medicine|July 20, 2007
Hormonal responses to a 160-km race across frozen AlaskaW J Kraemer, M S Fragala, G Watson, et al.
Cancer Cell|August 15, 2006
An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeriaJaan-Olle Andressoo, James R Mitchell, Jan de Wit, et al.
Nature Genetics|April 3, 2012
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repairYuka Nakazawa, Kensaku Sasaki, Norisato Mitsutake, et al.
DNA Repair|March 23, 2013
SMC6 is an essential gene in mice, but a hypomorphic mutant in the ATPase domain has a mild phenotype with a range of subtle abnormalitiesLimei Ju, Jonathan Wing, Elaine Taylor, et al.
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