Mutations of KIF14 cause primary microcephaly by impairing cytokinesis

Objective Autosomal recessive primary microcephaly (MCPH) is a rare condition characterized by a reduced cerebral cortex accompanied with intellectual disability. Mutations in 17 genes have been shown to cause this phenotype. Recently, mutations in CIT, encoding CRIK (citron rho‐interacting kinase)—...

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Veröffentlicht in:	Annals of neurology 2017-10, Vol.82 (4), p.562-577
Hauptverfasser:	Moawia, Abubakar, Shaheen, Ranad, Rasool, Sajida, Waseem, Syeda Seema, Ewida, Nour, Budde, Birgit, Kawalia, Amit, Motameny, Susanne, Khan, Kamal, Fatima, Ambrin, Jameel, Muhammad, Ullah, Farid, Akram, Talia, Ali, Zafar, Abdullah, Uzma, Irshad, Saba, Höhne, Wolfgang, Noegel, Angelika Anna, Al‐Owain, Mohammed, Hörtnagel, Konstanze, Stöbe, Petra, Baig, Shahid Mahmood, Nürnberg, Peter, Alkuraya, Fowzan Sami, Hahn, Andreas, Hussain, Muhammad Sajid
Format:	Artikel
Sprache:	eng
Schlagworte:	Apoptosis Caspase 7 - metabolism Cell Movement - genetics Cells, Cultured Cerebral cortex Child Child, Preschool Cytokinesis Cytokinesis - genetics Etiology Family Health Female Fibroblasts Fibroblasts - physiology Gene Expression Regulation - genetics Genes Genome-Wide Association Study Humans Immunofluorescence Intracellular Signaling Peptides and Proteins - genetics Intracellular Signaling Peptides and Proteins - metabolism Kinesin Kinesin - genetics Linkage analysis Localization Male Microcephaly Microcephaly - diagnostic imaging Microcephaly - genetics Microcephaly - pathology Microencephaly Microscopy Missense mutation Mutation Mutation - genetics Oncogene Proteins - genetics Pathogenesis Protein-Serine-Threonine Kinases - genetics Protein-Serine-Threonine Kinases - metabolism Proteins Ribonucleic acid RNA Splicing Tubulin - metabolism
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