Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome
about
Ndel1 palmitoylation: a new mean to regulate cytoplasmic dynein activity.Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit.Genomic organization of the murine Miller-Dieker/lissencephaly region: conservation of linkage with the human regionDirect association of LIS1, the lissencephaly gene product, with a mammalian homologue of a fungal nuclear distribution protein, rNUDEDISC1: a key lead in studying cortical development and associated brain disordersCross-Species Integrative Functional Genomics in GeneWeaver Reveals a Role for Pafah1b1 in Altered Response to Alcohol.14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndromeVariants in CUL4B are associated with cerebral malformationsThe DISC locus in psychiatric illnessLis1 controls dynamics of neuronal filopodia and spines to impact synaptogenesis and social behaviourRegulation of microtubule dynamics and myogenic differentiation by MURF, a striated muscle RING-finger proteinLIS1 RNA interference blocks neural stem cell division, morphogenesis, and motility at multiple stagesInactivation of a testis-specific Lis1 transcript in mice prevents spermatid differentiation and causes male infertilityHuman iPSC-Derived Cerebral Organoids Model Cellular Features of Lissencephaly and Reveal Prolonged Mitosis of Outer Radial GliaRoles of NUDE and NUDF proteins of Aspergillus nidulans: insights from intracellular localization and overexpression effectsAdvanced microscopic imaging methods to investigate cortical development and the etiology of mental retardation.Novel embryonic neuronal migration and proliferation defects in Dcx mutant mice are exacerbated by Lis1 reduction.The genetics of lissencephaly.Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation.miR-139-5p modulates cortical neuronal migration by targeting Lis1 in a rat model of focal cortical dysplasiaPreferential Association of Lissencephaly-1 Gene Expression with CD133+ Glioblastoma Cells.Molecular mechanisms for CMT1A duplication and HNPP deletion.Molecular genetics of neuronal migration disorders.Lis1 reduction causes tangential migratory errors in mouse spinal cord.How to construct a neural tube.Global developmental gene expression and pathway analysis of normal brain development and mouse models of human neuronal migration defectsRab-mediated vesicular transport is required for neuronal positioning in the developing Drosophila visual system.Genetics of neuronal migration in the cerebral cortex.Mechanisms and disturbances of neuronal migration.Cortical malformations and epilepsy.Neuropathology of 16p13.11 deletion in epilepsyIntragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopiaEpilepsy and genetic malformations of the cerebral cortex.A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.Genotypically defined lissencephalies show distinct pathologies.Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephalyExome sequencing and the genetics of intellectual disability.Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.
P2860
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P2860
Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome
description
1997 nî lūn-bûn
@nan
1997 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Point mutations and an intrage ...... nce and Miller-Dieker syndrome
@ast
Point mutations and an intrage ...... nce and Miller-Dieker syndrome
@en
Point mutations and an intrage ...... nce and Miller-Dieker syndrome
@en-gb
Point mutations and an intrage ...... nce and Miller-Dieker syndrome
@nl
type
label
Point mutations and an intrage ...... nce and Miller-Dieker syndrome
@ast
Point mutations and an intrage ...... nce and Miller-Dieker syndrome
@en
Point mutations and an intrage ...... nce and Miller-Dieker syndrome
@en-gb
Point mutations and an intrage ...... nce and Miller-Dieker syndrome
@nl
prefLabel
Point mutations and an intrage ...... nce and Miller-Dieker syndrome
@ast
Point mutations and an intrage ...... nce and Miller-Dieker syndrome
@en
Point mutations and an intrage ...... nce and Miller-Dieker syndrome
@en-gb
Point mutations and an intrage ...... nce and Miller-Dieker syndrome
@nl
P2093
P2860
P921
P356
P1476
Point mutations and an intrage ...... nce and Miller-Dieker syndrome
@en
P2093
C Lo Nigro
D H Ledbetter
R Carrozzo
W B Dobyns
P2860
P304
P356
10.1093/HMG/6.2.157
P407
P577
1997-02-01T00:00:00Z