Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function

Journal of Medical Genetics

Volumn 51, Issue 7, 2014, Pages 487-494

  Willemsen, Marjolein H ^a,b   Ba, Wei ^a,c   Wissink Lindhout, Willemijn M ^a   de Brouwer, Arjan P M ^a,b   Haas, Stefan A ^d   Bienek, Melanie ^d   Hu, Hao ^d   Vissers, Lisenka E L M ^a,b   van Bokhoven, Hans ^a,b,c   Kalscheuer, Vera ^d   Kasri, Nael Nadif ^a,b,c   Kleefstra, Tjitske ^a,b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY   (Netherlands)

^d MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

KINESIN; KINESIN 4A; KINESIN 5; KINESIN 5C; UNCLASSIFIED DRUG; YELLOW FLUORESCENT PROTEIN; KIF4A PROTEIN, HUMAN; KIF5C PROTEIN, HUMAN;

ANIMAL CELL; ARTICLE; CASE REPORT; CELL FUNCTION; CELLULAR DISTRIBUTION; CHILD; CHROMOSOME PAIRING; CLINICAL EVALUATION; CONTROLLED STUDY; DISEASE SEVERITY; DNA DETERMINATION; EPILEPSY; EXCITATORY POSTSYNAPTIC POTENTIAL; EXON; FEMALE; FRONTAL CORTEX; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HAND MOVEMENT; HIPPOCAMPAL NEURONAL CULTURE; HUMAN; INSULA; INTELLECTUAL IMPAIRMENT; MALE; MICROCEPHALY; MISSENSE MUTATION; MUSCLE HYPERTONIA; NERVE CELL EXCITABILITY; NEXT GENERATION SEQUENCING; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN FUNCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SYNAPTIC TRANSMISSION; TEMPORAL CORTEX; ADOLESCENT; ANIMAL; CELL CULTURE; GENETICS; MIDDLE AGED; MOLECULAR GENETICS; NERVE CELL; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE; PHYSIOLOGY; PRIMARY CELL CULTURE; RAT; SYNAPSE;

RATTUS;

ADOLESCENT; ANIMALS; BASE SEQUENCE; CELLS, CULTURED; CHILD; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; INTELLECTUAL DISABILITY; KINESIN; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NEURONS; PEDIGREE; PRIMARY CELL CULTURE; RATS; SYNAPSES; SYNAPTIC TRANSMISSION;

EID: 84902551969     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-102182     Document Type: Article

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