Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microce...
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
About this item
Full title
Author / Creator
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 and Chelly, Jamel
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
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 genetic causes of malformat...
Alternative Titles
Full title
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3826256
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3826256
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.2613
