Disruption of a ciliary B9 protein complex causes meckel syndrome

American Journal of Human Genetics

Volumn 89, Issue 1, 2011, Pages 94-110

  Dowdle, William E ^a   Robinson, Jon F ^b   Andreas Kneist, ^c   Sirerol Piquer, M Salomé ^d   Frints, Suzanna G M ^e,f   Corbit, Kevin C ^a   Zaghloul, Norran A ^b,g   Van Lijnschoten, Gesina ^h   Mulders, Leon ⁱ   Verver, Dideke E ^f,j   Zerres, Klaus ^c   Reed, Randall R ^k   Attié Bitach, Tania ^l   Johnson, Colin A ^m   García Verdugo, José Manuel ^j,n   Katsanis, Nicholas ^b   Bergmann, Carsten ^c,o   Reiter, Jeremy F ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c RWTH AACHEN UNIVERSITY   (Germany)

^d CENTRO DE INVESTIGACIÓN PRÍNCIPE FELIPE   (Spain)

^e MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^f MAASTRICHT UNIVERSITY   (Netherlands)

^g UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^h Stichting Laboratoria voor Pathologie en Medische Microbiologie   (Netherlands)

ⁱ MÁXIMA MEDICAL CENTER   (Netherlands)

^j CNRS   (France)

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

^l INSERM   (France)

^m ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

ⁿ UNIVERSITY OF VALENCIA   (Spain)

^o Bioscientia Center for Human Genetics   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; SONIC HEDGEHOG PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; B9D1 GENE; B9D2 GENE; CILIARY BODY; CILIOGENESIS; CONGENITAL MALFORMATION; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DUCTAL PLATE MALFORMATION; FEMALE; GENE; GENE LOCUS; GENE MUTATION; GENE REPRESSION; GENETIC CONSERVATION; HOMOZYGOSITY; KIDNEY CYST; LOSS OF FUNCTION MUTATION; MALE; MECKEL SYNDROME; MOUSE; NEURAL TUBE DEFECT; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN LOCALIZATION; SIGNAL TRANSDUCTION; ZEBRA FISH;

DANIO RERIO; ERINACEIDAE; MUS;

EID: 80051501226     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.06.003     Document Type: Article

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