Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Jamel Chelly, Nicholas Cowan and colleagues report mutations in TUBG1 , DYNC1H1 , KIF2A and KIF5C in individuals with malformations of cortical development and microcephaly. Their findings emphasize the importance of centrosomal and microtubule-related proteins for normal brain development. The gene...

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Vydané v:	Nature genetics Ročník 45; číslo 6; s. 639 - 647
Hlavní autori:	Poirier, Karine, Lebrun, Nicolas, Broix, Loic, Tian, Guoling, Saillour, Yoann, Boscheron, Cécile, Parrini, Elena, Valence, Stephanie, Pierre, Benjamin Saint, Oger, Madison, Lacombe, Didier, Geneviève, David, Fontana, Elena, Darra, Franscesca, Cances, Claude, Barth, Magalie, Bonneau, Dominique, Bernadina, Bernardo Dalla, N'Guyen, Sylvie, Gitiaux, Cyril, Parent, Philippe, des Portes, Vincent, Pedespan, Jean Michel, Legrez, Victoire, Castelnau-Ptakine, Laetitia, Nitschke, Patrick, Hieu, Thierry, Masson, Cecile, Zelenika, Diana, Andrieux, Annie, Francis, Fiona, Guerrini, Renzo, Cowan, Nicholas J, Bahi-Buisson, Nadia, Chelly, Jamel
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	New York Nature Publishing Group US 01.06.2013 Nature Publishing Group
Predmet:	692/699/375/366 Agriculture Animal Genetics and Genomics Animals Bioinformatics Biomedicine Cancer Research Cell Movement Cercopithecus aethiops COS Cells Cytoplasmic Dyneins - genetics Deoxyribonucleic acid DNA Exome Experiments Gene Function Gene mutations Genetic aspects Genetic Association Studies Germ-Line Mutation Health aspects Human Genetics Humans Hydrolysis Kinesin - genetics Life Sciences Lissencephaly - genetics Lissencephaly - pathology Magnetic Resonance Imaging Malformations of Cortical Development - genetics Malformations of Cortical Development - pathology Mice Microcephaly Microcephaly - genetics Microcephaly - pathology Migration Models, Molecular Mutation Mutation, Missense Neuroimaging Neurons and Cognition Pedigree Physiological aspects Proteins Risk factors Saccharomyces cerevisiae Sequence Analysis, DNA Studies Tubulin - genetics Tubulins France
ISSN:	1061-4036, 1546-1718, 1546-1718
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