Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

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

Volumn 106, Issue 33, 2009, Pages 13921-13926

  De Pontual, Loïc ^a   Zaghloul, Norann A ^c   Thomas, Sophie ^a   Davis, Erica E ^c   Mcgaughey, David M ^c   Dollfus, Hélène ^e   Baumann, Clarisse ^f   Bessling, Seneca L ^c   Babarit, Candice ^a   Pelet, Anna ^a   Gascue, Cecilia ^g   Beales, Philip ^h   Munnich, Arnold ^a,b,h   Lyonnet, Stanislas ^a,b,h   Etchevers, Heather ^a   Attie Bitach, Tania ^a,b   Badano, Jose L ^g   McCallion, Andrew S ^c   Katsanis, Nicholas ^c,d,i   Amiel, Jeanne ^a,h  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

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

^d JOHNS HOPKINS UNIVERSITY   (United States)

^e HÔPITAL DE HAUTEPIERRE   (France)

^f HÔPITAL ROBERT DEBRÉ   (France)

^g INSTITUT PASTEUR DE MONTEVIDEO   (Uruguay)

^h UNIVERSITY COLLEGE LONDON   (United Kingdom)

ⁱ DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Bardet Biedl; Genetic interaction; Neural crest cells; Zebrafish

Indexed keywords

ANIMAL EXPERIMENT; ARTICLE; BARDET BIEDL SYNDROME; BARDET BIEDL SYNDROME GENE; EMBRYO; GENE; GENE INTERACTION; GENE MUTATION; GENETIC EPISTASIS; GENOTYPE; HIRSCHSPRUNG DISEASE; HUMAN; NONHUMAN; PRIORITY JOURNAL; RET GENE; ZEBRA FISH;

ALLELES; CYTOPLASM; ENHANCER ELEMENTS, GENETIC; EPISTASIS, GENETIC; FAMILY HEALTH; FEMALE; GENOTYPE; HIRSCHSPRUNG DISEASE; HUMANS; MALE; MUTATION; PEDIGREE; PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; STOMACH;

DANIO RERIO;

EID: 69549085026     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0901219106     Document Type: Article

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