Kbp-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome

Human Molecular Genetics

Volumn 22, Issue 12, 2013, Pages 2387-2399

  Drévillon, Loïc ^a,b   Megarbane, André ^c,d   Demeer, Bénédicte ^e   Matar, Corine ^b   Benit, Paule ^f   Briand Suleau, Audrey ^a,b   Bodereau, Virginie ^a   Ghoumid, Jamal ^a,b,g   Nasser, Mayssa ^a,b   Decrouy, Xavier ^h   Doco Fenzy, Martine ⁱ   Rustin, Pierre ^f   Gaillard, Dominique ⁱ   Goossens, Michel ^a,b,g   Giurgea, Irina ^a,b,g  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b INSERM U955   (France)

^c SAINT JOSEPH UNIVERSITY   (Lebanon)

^d Institute Jérôme Lejeune   (France)

^e AMIENS UNIVERSITY HOSPITAL   (France)

^f HÔPITAL ROBERT DEBRÉ   (France)

^g UNIVERSITÉ PARIS EST CRÉTEIL   (France)

^h UNIVERSITÉ DE REIMS CHAMPAGNE ARDENNE   (France)

ⁱ Reims University Hospital   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; F ACTIN; KIF BINDING PROTEIN; TUBULIN; UNCLASSIFIED DRUG;

ACTIN FILAMENT; ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CONFOCAL MICROSCOPY; CONTROLLED STUDY; CROSS LINKING; CYTOSKELETON; DEGRADATION; FIBROBLAST; GENE; GENE MUTATION; GOLDBERG SHPRINTZEN SYNDROME; HOMOZYGOTE; HUMAN; HUMAN CELL; INTESTINE INNERVATION; KIAA1279 GENE; MICROGYRIA; MICROTUBULE; MITOCHONDRION; MULTIPLE MALFORMATION SYNDROME; NERVE CELL DIFFERENTIATION; NERVE FIBER GROWTH; NEUROBLASTOMA CELL; NEUROIMAGING; NONSENSE MEDIATED MRNA DECAY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; RESPIRATORY CHAIN;

ACTINS; ADOLESCENT; ADULT; CHILD; CRANIOFACIAL ABNORMALITIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FRANCE; HIRSCHSPRUNG DISEASE; HUMANS; INFANT; IRAQ; MALE; MICROTUBULES; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; PROTEIN BINDING; TUBULIN;

EID: 84878498423     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt083     Document Type: Article

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