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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

WD repeat domain 62

This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011] (from NCBI)
Top mentioned proteins: ASPM, JNK, MCPH1, CAN, C48
Papers on WDR62
Aurora A phosphorylation of WD40-repeat protein 62 in mitotic spindle regulation.
Ng et al., Melbourne, Australia. In Cell Cycle, Jan 2016
UNASSIGNED: Mitotic spindle organization is regulated by centrosomal kinases that potentiate recruitment of spindle-associated proteins required for normal mitotic progress including the microcephaly protein WD40-repeat protein 62 (WDR62).
A novel splice-site mutation in WDR62 revealed by whole-exome sequencing in a Sudanese family with primary microcephaly.
Hamzeh et al., Ukraine. In Congenit Anom (kyoto), Dec 2015
UNASSIGNED: The WDR62 gene encodes a scaffold protein of the c-Jun N-terminal kinase (JNK) pathway.
What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH).
Kaindl et al., London, United Kingdom. In Mol Cell Probes, Oct 2015
The functions of proteins such as WDR62, CASC5, PHC1, CDK6, CENP-E, CENP-F, CEP63, ZNF335, PLK4 and TUBGPC, have been added to the complex network of critical cellular processes known to be involved in brain growth and size.
Opposing roles for JNK and Aurora A in regulating the association of WDR62 with spindle microtubules.
Ng et al., In J Cell Sci, Mar 2015
WD40-repeat protein 62 (WDR62) is a spindle pole protein required for normal cell division and neuroprogenitor differentiation during brain development.
Variants in CUL4B are associated with cerebral malformations.
de Brouwer et al., Nijmegen, Netherlands. In Hum Mutat, 2015
Accordingly, we show that CUL-4B interacts with WDR62, a protein in which variants were previously identified in patients with microcephaly and a wide range of MCD.
Molecular genetics of human primary microcephaly: an overview.
Saleh Jamal et al., 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.
Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication.
Reiter et al., San Francisco, United States. In Elife, 2014
Primary microcephaly (MCPH) associated proteins CDK5RAP2, CEP152, WDR62 and CEP63 colocalize at the centrosome.
Estrogen regulation of microcephaly genes and evolution of brain sexual dimorphism in primates.
Su et al., Kunming, China. In Bmc Evol Biol, 2014
RESULTS: In the present study, we tested the effect of the female hormone (estradiol) on seven genes known to be related to brain size in both humans and nonhuman primates, and we identified half estrogen responsive elements (half EREs) in the promoter regions of four genes (MCPH1, ASPM, CDK5RAP2 and WDR62).
A novel single base pair duplication in WDR62 causes primary microcephaly.
Mir et al., In Bmc Med Genet, 2013
Sequencing of the associated gene, WDR62, revealed the frameshift causing single base pair duplication, c.2527dupG.
WDR62 missense mutation in a consanguineous family with primary microcephaly.
Bonnen et al., Houston, United States. In Am J Med Genet A, 2012
homozygous missense mutation in WDR62, p.E400K, was found in both boys and segregated with the condition in this family. WDR62 is one of seven genes responsible for autosomal recessive primary microcephaly
Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.
Kumar et al., Bengaluru, India. In Clin Genet, 2011
Mutations in WDR62 gene leads to microcephaly and other brain malformations.
Docking interactions of the JNK scaffold protein WDR62.
Aronheim et al., Haifa, Israel. In Biochem J, 2011
The docking domain of WDR62 interacts with all JNK isoforms through a D domain motif located at the C-terminus.
Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.
Ramocki et al., Houston, United States. In Am J Med Genet A, 2011
study reports using whole-exome sequencing to identify compound heterozygous mutations in the WD repeat domain 62 (WDR62) gene as the cause of recurrent polymicrogyria in a sibling pair
Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.
Laquerrière et al., Brest, France. In Acta Neuropathol, 2011
Genetic alterations of LIS1, DCX, ARX, TUBA1A, VLDLR, RELN and more recently WDR62 genes cause migrational abnormalities along with more complex and subtle anomalies affecting cell proliferation and differentiation, i.e., neurite outgrowth, axonal pathfinding, axonal transport, connectivity and even myelination.
Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly.
Ansar et al., Islamabad, Pakistan. In Bmc Neurol, 2010
data indicate that WDR62 mutations cause about 4% of autosomal recessive primary microcephaly in Pakistan.
Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.
Hassan et al., 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.
WDR62 is associated with the spindle pole and is mutated in human microcephaly.
Woods et al., Cambridge, United Kingdom. In Nat Genet, 2010
Identification of WDR62 as the second most common cause of second most common cause of autosoml reccessive microcephaly.
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
Walsh et al., Boston, United States. In Nat Genet, 2010
The diverse phenotypes of WDR62 suggest it has central roles in many aspects of cerebral cortical development and that mutations cause microencephaly.
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.
Günel et al., New Haven, United States. In Nature, 2010
Study demonstrates the use of whole-exome sequencing to identify recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly.
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders
Passemard et al., 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).
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