Molecular genetics of human primary microcephaly: an overview.
In Bmc Med Genomics, 2014
Twelve MCPH loci (MCPH1-MCPH12) have been mapped to date from various populations around the world and contain the following genes: Microcephalin, WDR62, CDK5RAP2, CASC5, ASPM, CENPJ, STIL, CEP135, CEP152, ZNF335, PHC1 and CDK6.
Pattern formation in centrosome assembly.
Cambridge, United Kingdom. In Curr Opin Cell Biol, 2012
Here we use recent insights into the spatio-temporal behaviour of key regulators of centrosomal maturation, including Polo-like kinase 1, CDK5RAP2 and Aurora-A, to propose a model for the assembly and maintenance of the PCM through the mobility and local interactions of its constituent proteins.
What's the hype about CDK5RAP2?
Berlin, Germany. In Cell Mol Life Sci, 2011
Cyclin dependent kinase 5 regulatory subunit-associated protein 2 (CDK5RAP2) has gained attention in the last years following the discovery, in 2005, that recessive mutations cause primary autosomal recessive microcephaly.
Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.
Lahore, Pakistan. In Orphanet J Rare Dis, 2010
So far, seven genetic loci (MCPH1-7) for this condition have been mapped with seven corresponding genes (MCPH1, WDR62, CDK5RAP2, CEP152, ASPM, CENPJ, and STIL) identified from different world populations.
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders
Seattle, United States. In Unknown Journal, 2009
The genes in which biallelic mutation is known to cause MCPH-SCKS spectrum disorders are separated into those that are currently known to be associated with: MCPH phenotype only: MCPH1 (locus name MCPH1), WDR62 (MCPH2), CDK5RAP2 (MCPH3), CASC5 (MCPH4), ASPM (MCPH5), STIL (MCPH7), CEP135 (MCPH8), and CDK6 (MCPH12); SCKS phenotype only: ATR (locus name SCKL1), NIN (SCKL7), and ATRIP ; and MCPH, SCKS, and/or intermediate phenotypes: RBBP8 (locus name SCKL2), CEP152 (MCPH9/SCKL5), CENPJ (MCPH6/SCKL4), CEP63 (SCKL6), and PHC1 (MCPH11).