Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

Proceedings of the National Academy of Sciences of the United States of America

Volumn 107, Issue 23, 2010, Pages 10602-10607

  Zaghloul, Norann A ^a   Liu, Yangjian ^a   Gerdes, Jantje M ^a   Gascue, Cecilia ^b   Oh, Edwin C ^c   Leitch, Carmen C ^a   Bromberg, Yana ^d   Binkley, Jonathan ^e,f   Leibel, Rudolph L ^d   Sidow, Arend ^e,f   Badano, Jose L ^b   Katsanis, Nicholas ^a,c  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b INSTITUT PASTEUR DE MONTEVIDEO   (Uruguay)

^c DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d NewYork Presbyterian Hospital   (United States)

^e STANFORD UNIVERSITY MEDICAL CENTER   (United States)

^f STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Ciliopathy; Epistasis; In vivo assays; Zebrafish

Indexed keywords

ALLELE; ANIMAL CELL; ARTICLE; BARDET BIEDL SYNDROME; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; GASTRULATION; GENE LOCUS; GENE MUTATION; GENETIC VARIABILITY; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; RARE DISEASE; SENSITIVITY AND SPECIFICITY; ZEBRA FISH;

ALLELES; ANIMALS; BARDET-BIEDL SYNDROME; FEMALE; GENE EXPRESSION REGULATION; HUMANS; MALE; MODELS, ANIMAL; MUTATION; PEDIGREE; PHENOTYPE; ZEBRAFISH;

DANIO RERIO;

EID: 77953730407     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1000219107     Document Type: Article

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