Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association

Human Mutation

Volumn 36, Issue 12, 2015, Pages 1150-1154

  Hilger, Alina C ^a   Halbritter, Jan ^b,c   Pennimpede, Tracie ^d,e   van der Ven, Amelie ^a,b   Sarma, Georgia ^a   Braun, Daniela A ^b   Porath, Jonathan D ^b   Kohl, Stefan ^b   Hwang, Daw Yang ^b   Dworschak, Gabriel C ^a,b   Hermann, Bernhard G ^d   Pavlova, Anna ^a   El Maarri, Osman ^a,f   Nöthen, Markus M ^a   Ludwig, Michael ^a   Reutter, Heiko ^a   Hildebrandt, Friedhelm ^b,g  

^a UNIVERSITY OF BONN   (Germany)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^d MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^e QUEEN S UNIVERSITY   (Canada)

^f LEBANESE AMERICAN UNIVERSITY   (Lebanon)

^g HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

Cilia; FOXF1; VATER VACTERL association; ZIC3

Indexed keywords

CYSTEINE; GLYCINE; FORKHEAD TRANSCRIPTION FACTOR; FOXF1 PROTEIN, HUMAN; FOXF1A PROTEIN, MOUSE; HOMEODOMAIN PROTEIN; TRANSCRIPTION FACTOR; ZIC3 PROTEIN, HUMAN; ZIC3 PROTEIN, MOUSE;

ANIMAL TISSUE; ARTICLE; ASSOCIATION OF CONGENITAL DEFECTS; EMBRYO; FEMALE; FOXF1 GENE; GENE; GENE EXPRESSION; GENE SEQUENCE; HOXD13 GENE; HUMAN; IN SITU HYBRIDIZATION; MALE; MISSENSE MUTATION; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PTEN GENE; VATER VACTERL ASSOCIATION; ZIC3 GENE; ABNORMALITIES; ALLELE; ANAL CANAL; ANIMAL; ANUS, IMPERFORATE; BIOLOGY; DNA MUTATIONAL ANALYSIS; ESOPHAGUS; EUKARYOTIC FLAGELLUM; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; HEART DEFECTS, CONGENITAL; HIGH THROUGHPUT SEQUENCING; IMMUNOHISTOCHEMISTRY; KIDNEY; LIMB DEFORMITIES, CONGENITAL; METABOLISM; MUTATION; PROCEDURES; RADIUS; SPINE; TRACHEA;

ALLELES; ANAL CANAL; ANIMALS; ANUS, IMPERFORATE; CILIA; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; ESOPHAGUS; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENETIC ASSOCIATION STUDIES; GENOTYPE; HEART DEFECTS, CONGENITAL; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMEODOMAIN PROTEINS; HUMANS; IMMUNOHISTOCHEMISTRY; KIDNEY; LIMB DEFORMITIES, CONGENITAL; MALE; MICE; MUTATION; PHENOTYPE; RADIUS; SPINE; TRACHEA; TRANSCRIPTION FACTORS;

EID: 84947047046     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22859     Document Type: Article

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