Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency

Human Mutation

Volumn 35, Issue 11, 2014, Pages 1311-1320

  Utami, Kagistia Hana ^a,b   Winata, Cecilia Lanny ^a   Hillmer, Axel M ^a   Aksoy, Irene ^a   Long, Hoang Truong ^a   Liany, Herty ^a   Chew, Elaine G Y ^a   Mathavan, Sinnakaruppan ^a   Tay, Stacey K H ^b   Korzh, Vladimir ^c   Sarda, Pierre ^d   Davila, Sonia ^a   Cacheux, Valere ^a  

^a GENOME INSTITUTE OF SINGAPORE   (Singapore)

^b NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^c INSTITUTE OF MOLECULAR AND CELL BIOLOGY   (Singapore)

^d HÔPITAL ARNAUD DE VILLENEUVE   (France)

Author keywords

Craniofacial dysmorphism; MED13L; Neural crest; Next generation sequencing; Zebrafish model

Indexed keywords

FIBROBLAST GROWTH FACTOR; MESSENGER RNA; SHORT HAIRPIN RNA; TRANSCRIPTOME; WNT PROTEIN; MED13L PROTEIN, HUMAN; MEDIATOR COMPLEX;

ADOLESCENT; ARTICLE; BRAIN REGION; CASE REPORT; CHROMOSOME BREAKAGE; CHROMOSOME TRANSLOCATION; CRANIOFACIAL MALFORMATION; EMBRYO; FEMALE; GENE; GENE DISRUPTION; GENE EXPRESSION; HAPLOINSUFFICIENCY; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; MED13B GENE; MED13L GENE; NERVE CELL DIFFERENTIATION; NEURAL CREST CELL; NEURAL STEM CELL; PHENOTYPE; PIERRE ROBIN SYNDROME; SIGNAL TRANSDUCTION; ZEBRA FISH; ANIMAL; CELL DIFFERENTIATION; CELL MOTION; CYTOLOGY; DISEASE MODEL; DNA SEQUENCE; EMBRYOLOGY; EMBRYONIC STEM CELL; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENE SILENCING; GENE TRANSLOCATION; GENETIC ASSOCIATION; GENETICS; INTELLECTUAL DISABILITY; METABOLISM; NERVE CELL; NEURAL CREST; PRESCHOOL CHILD;

DANIO RERIO; EUKARYOTA; MAMMALIA;

ANIMALS; CELL DIFFERENTIATION; CELL MOVEMENT; CHILD, PRESCHOOL; CHROMOSOME BREAKPOINTS; DISEASE MODELS, ANIMAL; EMBRYONIC STEM CELLS; FEMALE; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENE KNOCKDOWN TECHNIQUES; GENETIC ASSOCIATION STUDIES; HAPLOINSUFFICIENCY; HUMANS; INTELLECTUAL DISABILITY; MEDIATOR COMPLEX; NEURAL CREST; NEURONS; PHENOTYPE; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; TRANSCRIPTOME; TRANSLOCATION, GENETIC; ZEBRAFISH;

EID: 84917674327     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22636     Document Type: Article

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