Kinetochore KMN network gene CASC5 mutated in primary microcephaly

Human Molecular Genetics

Volumn 21, Issue 24, 2012, Pages 5306-5317

  Genin, Anne ^a   Desir, Julie ^a,b   Lambert, Nelle ^a,b   Biervliet, Martine ^a   Van der Aa, Nathalie ^a   Pierquin, Genevieve ^c   Killian, Audrey ^d   Tosi, Mario ^d   Urbina, Montse ^b   Lefort, Anne ^a   Libert, Frederick ^a   Pirson, Isabelle ^a   Abramowicz, Marc ^a,b  

^a ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^b UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

^c UNIVERSITY OF LIÈGE   (Belgium)

^d UNIVERSITY OF ROUEN   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ABNORMAL SPINDLE LIKE MICROCEPHALY ASSOCIATED PROTEIN; BUB1 RELATED PROTEIN; CASC5 PROTEIN; P21 ACTIVATED KINASE 6; PROTEIN; RAD51 PROTEIN; UNCLASSIFIED DRUG; ZWINT 1 PROTEIN;

ARTICLE; CENTROMERE; CHILD; CHROMOSOME; CONTROLLED STUDY; EXON; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE REGULATORY NETWORK; HOMOZYGOSITY; HUMAN; HUMAN CELL; IN VITRO STUDY; LOSS OF FUNCTION MUTATION; MICROCEPHALY; MICROTUBULE; MITOSIS; MUTATION RATE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN LOCALIZATION; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SUBVENTRICULAR ZONE; UPREGULATION;

CELL CYCLE PROTEINS; CELL LINE; CELLS, CULTURED; HUMANS; IMMUNOBLOTTING; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; KINETOCHORES; MICROCEPHALY; MICROTUBULE-ASSOCIATED PROTEINS; MITOSIS; MUTATION; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; POLYMERASE CHAIN REACTION; PROTEIN BINDING; PROTEIN-SERINE-THREONINE KINASES;

PRIMATES; RODENTIA;

EID: 84870323152     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds386     Document Type: Article

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