Novel Alternative Splice Variants of Mouse Cdk5rap2.
Ontology highlight
ABSTRACT:
SUBMITTER: Kraemer N
PROVIDER: S-EPMC4556188 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Publications
Novel Alternative Splice Variants of Mouse Cdk5rap2.
Kraemer Nadine N Issa-Jahns Lina L Neubert Gerda G Ravindran Ethiraj E Mani Shyamala S Ninnemann Olaf O Kaindl Angela M AM
PloS one 20150831 8
Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disorder characterized by a pronounced reduction of brain volume and intellectual disability. A current model for the microcephaly phenotype invokes a stem cell proliferation and differentiation defect, which has moved the disease into the spotlight of stem cell biology and neurodevelopmental science. Homozygous mutations of the Cyclin-dependent kinase-5 regulatory subunit-associated protein 2 gene CDK5RAP2 are one gene ...[more]
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