Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta

European Journal of Human Genetics

Volumn 20, Issue 6, 2012, Pages 626-631

  Moslehi, Roxana ^a   Kumar, Anil ^a   Mills, James L ^b   Ambroggio, Xavier ^c   Signore, Caroline ^b   Dzutsev, Amiran ^d  

^a STATE UNIVERSITY OF NEW YORK   (United States)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^c NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^d SAIC FREDERICK INC   (United States)

Author keywords

human fetal development; TFIIH; Trichothiodystrophy; xeroderma pigmentosum; XPD

Indexed keywords

CYCLIN DEPENDENT KINASE ACTIVATING KINASE; PROTEIN P44; TRANSCRIPTION FACTOR IIH;

ARTICLE; FEMALE; FETUS; FETUS DEVELOPMENT; GENE MUTATION; GENETIC EPIDEMIOLOGY; HELLP SYNDROME; HUMAN; LOW BIRTH WEIGHT; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PLACENTA; PREECLAMPSIA; PREGNANCY COMPLICATION; PREMATURITY; PRIORITY JOURNAL; TRICHOTHIODYSTROPHY; TWIN PREGNANCY; XERODERMA PIGMENTOSUM;

FEMALE; GENOTYPE; HUMANS; PHENOTYPE; PLACENTA; PRE-ECLAMPSIA; PREGNANCY; TRANSCRIPTION FACTOR TFIIH; TRICHOTHIODYSTROPHY SYNDROMES; XERODERMA PIGMENTOSUM; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

EID: 84862803095     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.249     Document Type: Article

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