Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 163, Issue 4, 2013, Pages 306-317

  Clouthier, David E ^a   Passos Bueno, Maria Rita ^b   Tavares, Andre L P ^a   Lyonnet, Stanislas ^c   Amiel, Jeanne ^c   Gordon, Christopher T ^c  

^a UNIVERSITY OF COLORADO   (United States)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Auriculocondylar syndrome; Craniofacial development; EDNRA; Endothelin; GNAI3; Homeotic transformation; Knockout mice; Micrognathia; Morpholino; Neural crest cell; PLCB4; Question mark ear; Transgenic mice; Zebrafish

Indexed keywords

ALPHA INHIBITING ACTIVITY POLYPEPTIDE 3; ENDOTHELIN; ENDOTHELIN CONVERTING ENZYME; GUANINE NUCLEOTIDE BINDING PROTEIN; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA INHIBITING ACTIVITY POLYPEPTIDE 3; GUANINE NUCLEOTIDE EXCHANGE FACTOR; GUANOSINE DIPHOSPHATE; PHOSPHOLIPASE C BETA4; POLYPEPTIDE; TRANSCRIPTION FACTOR DLX5; UNCLASSIFIED DRUG;

ARTICLE; AURICULOCONDYLAR SYNDROME; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BONE TISSUE; CARTILAGE; CHROMOSOME 1P; CHROMOSOME MAP; CLINICAL FEATURE; CONNECTIVE TISSUE; CONSANGUINITY; CRANIOFACIAL DEVELOPMENT; EAR MALFORMATION; EDNRA GENE; ENZYME ACTIVE SITE; GENE; GENE DELETION; GENE LOCUS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; JAW MALFORMATION; MANDIBLE HYPOPLASIA; MANDIBULAR CONDYLE HYPOPLASIA; MICROGNATHIA; MISSENSE MUTATION; MORPHOGENESIS; MOUSE; NEURAL CREST CELL; NONHUMAN; PENETRANCE; PHENOTYPE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; QUESTION MARK EAR; SIGNAL TRANSDUCTION; ZEBRA FISH; ANIMAL; BRANCHIAL ARCH; DISEASE MODEL; EAR; EAR DISEASE; FACE; GENE EXPRESSION REGULATION; GENETICS; GROWTH, DEVELOPMENT AND AGING; MANDIBLE; MAXILLOFACIAL DEVELOPMENT; NEURAL CREST; PATHOLOGY; PATHOPHYSIOLOGY;

DANIO RERIO; MUS; MUS MUSCULUS;

ANIMALS; BODY PATTERNING; BRANCHIAL REGION; DISEASE MODELS, ANIMAL; EAR; EAR DISEASES; FACE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; MANDIBLE; MAXILLOFACIAL DEVELOPMENT; MICE; NEURAL CREST; SIGNAL TRANSDUCTION; ZEBRAFISH;

EID: 84886240278     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31376     Document Type: Article

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