Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter
about
Identification of microcephalin, a protein implicated in determining the size of the human brainCDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephalyA fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuumBrain shape in human microcephalics and Homo floresiensisMcph1-deficient mice reveal a role for MCPH1 in otitis mediaMicrocephaly genes evolved adaptively throughout the evolution of eutherian mammalsAutosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findingsASPM is a major determinant of cerebral cortical sizeThe derived allele of ASPM is associated with lexical tone perception.Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.MCPH1: a window into brain development and evolution.Genetics and biology of microcephaly and lissencephalyDisease gene characterization through large-scale co-expression analysisSmall organelle, big responsibility: the role of centrosomes in development and disease.Mutations in microcephalin cause aberrant regulation of chromosome condensation.Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32OSVZ progenitors in the human cortex: an updated perspective on neurodevelopmental disease.A novel MCPH1 isoform complements the defective chromosome condensation of human MCPH1-deficient cells.Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation.The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response.Investigation of genetic causes of intellectual disability in kerman province, South East of iran.Cortical malformation and pediatric epilepsy: a molecular genetic approach.Genetic links between brain development and brain evolution.Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly.BRIT1 regulates p53 stability and functions as a tumor suppressor in breast cancer.TALEN-based generation of a cynomolgus monkey disease model for human microcephaly.A Novel Deletion Mutation in ASPM Gene in an Iranian Family with Autosomal Recessive Primary Microcephaly.Multiple roles of BRIT1/MCPH1 in DNA damage response, DNA repair, and cancer suppression.Genetic regulation of human brain development: lessons from Mendelian diseases.What's the hype about CDK5RAP2?Cancer predisposing mutations in BRCT domains.Neuronal stem cells in the central nervous system and in human diseases.Molecular and cellular basis of autosomal recessive primary microcephaly.The Janus soul of centrosomes: a paradoxical role in disease?The prevalence of neuromuscular disease in the paediatric population in Yorkshire, UK; variation by ethnicity and deprivation status.Adaptive evolution of interleukin-3 (IL3), a gene associated with brain volume variation in general human populations.MCPH1 maintains long-term epigenetic silencing of ANGPT2 in chronic lymphocytic leukemia.
P2860
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P2860
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter
description
1998 nî lūn-bûn
@nan
1998 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter
@ast
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter
@en
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter
@en-gb
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter
@nl
type
label
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter
@ast
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter
@en
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter
@en-gb
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter
@nl
prefLabel
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter
@ast
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter
@en
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter
@en-gb
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter
@nl
P2093
P2860
P3181
P356
P1476
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter
@en
P2093
A F Markham
D A Campbell
D P McHale
M I Levene
R F Mueller
P2860
P304
P3181
P356
10.1086/301966
P407
P577
1998-08-01T00:00:00Z