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ASPM wt Allele

Known as: Calmbp1, Abnormal Spindle-Like, Microcephaly-Associated Gene, MCPH5 
Human ASPM wild-type allele is located in the vicinity of 1q31 and is approximately 63 kb in length. This allele, which encodes abnormal spindle-like… 
National Institutes of Health

Related topics

Related topics

4 relations
1q31Cell Cycle ControlMitotic Chromosomal Processnuclear division

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Genetic study of Khyber-Pukhtunkhwa resident Pakistani families presenting primary microcephaly with intellectual disability.
OBJECTIVE To investigate the genetic factor responsible for causing microcephaly and determine allelic heterogeneity of Abnormal… 
2019
2019
Normal early development in siblings with novel compound heterozygous variants in ASPM
Autosomal recessive primary microcephaly 5 (MCPH5) is caused by pathogenic variants in ASPM. Using whole-exome sequencing, we… 
2018
2018
Longitudinal Diffusion Tensor Imaging Revealed Nerve Fiber Alterations in Aspm Mutated Microcephaly Model Mice
2013
2013
A Novel Deletion Mutation in ASPM Gene in an Iranian Family with Autosomal Recessive Primary Microcephaly
Objective Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental and genetically heterogeneous disorder with… 
2012
2012
Investigation of Genetic Causes of Intellectual Disability in Kerman Province, South East of Iran
Background Intellectual disability (ID) has a worldwide prevalence of 1-3% and results from extraordinary heterogeneous. To shed… 
2012
2012
A Molecular Genetic Study of Autosomal Recessive Primary Microcephaly in three Pakistani Kindred
Microcephaly (MCPH) is a condition with architecturally normal brain but reduced head of occipito-frontal circumference below -2… 
2010
2010
Abstract 5544:ASPMis a novel participant in DNA double-strand break repair and a potential target for radiotherapy
Comprehensive serach for human cellular response to ionizing radiation (IR) is indispensable strategy to understand the molecular… 
Review
2008
Review
2008
Stem cells on the brain.
Mutations that cause autosomal recessive primary microcephaly (MCPH), including MCPH1 through MCPH6, have provided insight into… 
2004
2004
Genetic analysis of primary microcephaly in Indian families : novel ASPM mutations
Patients with primary microcephaly, an autosomal recessive trait, have mild to severe mental retardation without any other… 
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