Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains

Human Mutation

Volumn 35, Issue 3, 2014, Pages 377-383

  Vanmarsenille, Lieselot ^a,b   Giannandrea, Maila ^c   Fieremans, Nathalie ^a,b   Verbeeck, Jelle ^a,b   Belet, Stefanie ^a,b   Raynaud, Martine ^d   Vogels, Annick ^e   Männik, Katrin ^f,j   Õunap, Katrin ^g   Jacqueline, Vigneron ^h   Briault, Sylvain ⁱ   Van Esch, Hilde ^e   D'Adamo, Patrizia ^c   Froyen, Guy ^a,b  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c DULBECCO TELETHON INSTITUTE   (Italy)

^d UNIVERSITY HOSPITAL OF TOURS   (France)

^e UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^f UNIVERSITY OF TARTU   (Estonia)

^g TARTU UNIVERSITY HOSPITAL   (Estonia)

^h Regional Maternity Ward   (France)

ⁱ UNIVERSITÉ D'ORLÉANS   (France)

^j UNIVERSITY OF LAUSANNE   (Switzerland)

more..

Author keywords

Copy number gain; Intellectual disability; Neuronal branching; RAB39B; Xq28

Indexed keywords

CLOZAPINE; DNA; METHYL CPG BINDING PROTEIN 2; RAB PROTEIN; RAB39B PROTEIN; UNCLASSIFIED DRUG; VALPROIC ACID; ZUCLOPENTHIXOL;

ADULT; ALLELE; ANIMAL CELL; ARTICLE; CASE REPORT; COGNITIVE DEFECT; CONTROLLED STUDY; FEMALE; GENE DOSAGE; GENE MAPPING; GENE OVEREXPRESSION; HOMOLOGOUS RECOMBINATION; HOSPITAL READMISSION; HUMAN; HUMAN CELL; LOSS OF FUNCTION MUTATION; LYMPHOCYTE; MALE; MOTHER; MOUSE; NERVE CELL DIFFERENTIATION; NONHUMAN; PARANOIA; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; PSYCHIATRIC DEPARTMENT; SCHIZOPHRENIA; SYNAPSE; SYNAPTOSOME; WECHSLER INTELLIGENCE SCALE; WESTERN BLOTTING; X CHROMOSOME INACTIVATION;

ANIMALS; BELGIUM; CELL DIFFERENTIATION; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, X; DNA COPY NUMBER VARIATIONS; ESTONIA; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE DUPLICATION; GENE EXPRESSION REGULATION; HUMANS; INTELLECTUAL DISABILITY; MALE; METHYL-CPG-BINDING PROTEIN 2; MICE; NEURONS; RAB GTP-BINDING PROTEINS; X CHROMOSOME INACTIVATION;

EID: 84893951968     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22497     Document Type: Article

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