A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function-Reference-Cited by-同舟云学术

A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function

Published:2012-05 Issue:5 Volume:90 Page:871-878
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Hussain Muhammad Sajid,Baig Shahid Mahmood,Neumann Sascha,Nürnberg Gudrun,Farooq Muhammad,Ahmad Ilyas,Alef Thomas,Hennies Hans Christian,Technau Martin,Altmüller Janine,Frommolt Peter,Thiele Holger,Noegel Angelika Anna,Nürnberg Peter

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference29 articles.

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2. Identification of microcephalin, a protein implicated in determining the size of the human brain;Jackson;Am. J. Hum. Genet.,2002

3. WDR62 is associated with the spindle pole and is mutated in human microcephaly;Nicholas;Nat. Genet.,2010

4. Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture;Yu;Nat. Genet.,2010

5. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size;Bond;Nat. Genet.,2005

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3. Cep57 regulates human centrosomes through multivalent interactions;Proceedings of the National Academy of Sciences;2024-06-10

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