LIS1 missense mutations: variable phenotypes result from unpredictable alterations in biochemical and cellular properties.
about
WDR62 is associated with the spindle pole and is mutated in human microcephalyThe phospholipase complex PAFAH Ib regulates the functional organization of the Golgi complex.Dictyostelium LIS1 is a centrosomal protein required for microtubule/cell cortex interactions, nucleus/centrosome linkage, and actin dynamicsAbnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutationA defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disabilityGenotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered.Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration.Differential effects of the dynein-regulatory factor Lissencephaly-1 on processive dynein-dynactin motility.Epileptic-like convulsions associated with LIS-1 in the cytoskeletal control of neurotransmitter signaling in Caenorhabditis elegans.A novel recurrent LIS1 splice site mutation in classic lissencephaly.
P2860
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P2860
LIS1 missense mutations: variable phenotypes result from unpredictable alterations in biochemical and cellular properties.
description
2003 nî lūn-bûn
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2003年の論文
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2003年学术文章
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2003年学术文章
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2003年学术文章
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2003年学术文章
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2003年学术文章
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2003年學術文章
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name
LIS1 missense mutations: varia ...... mical and cellular properties.
@en
LIS1 missense mutations: varia ...... mical and cellular properties.
@nl
type
label
LIS1 missense mutations: varia ...... mical and cellular properties.
@en
LIS1 missense mutations: varia ...... mical and cellular properties.
@nl
prefLabel
LIS1 missense mutations: varia ...... mical and cellular properties.
@en
LIS1 missense mutations: varia ...... mical and cellular properties.
@nl
P2093
P2860
P50
P356
P1476
LIS1 missense mutations: varia ...... mical and cellular properties.
@en
P2093
Cynthia Koifman
Hiroyuki Arai
Jan R De Mey
Michal Caspi
Talia Levy
P2860
P304
38740-38748
P356
10.1074/JBC.M301147200
P407
P577
2003-07-28T00:00:00Z