Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts
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Identification of potential target genes for RFX4_v3, a transcription factor critical for brain developmentMLC1: a novel protein in distal astroglial processesMegalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutationsMolecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defectsSequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: relevance to MLC disease pathogenesisAlexander's disease: clinical, pathologic, and genetic features.Megalencephalic leukoencephalopathy with subcortical cysts.A case of megalencephalic leukoencephalopathy with subcortical cysts type 1 was identified with a novel compound heterozygous alteration (c.135delC; c.423+2dupT) in China.Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model.Functional studies of MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts.Megalencephalic leukoencephalopathy with subcortical cysts in two siblings owing to two novel mutations: case reports and review of the literature.Leukodystrophies: Indian scenario.ASTROCYTES: EMERGING STARS IN LEUKODYSTROPHY PATHOGENESIS.Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytes.Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.ABC of multifaceted dystrophin glycoprotein complex (DGC).1Identification of genes differentially expressed in the embryonic pig cerebral cortex before and after appearance of gyration.Correlations between long inverted repeat (LIR) features, deletion size and distance from breakpoint in human gross gene deletions.Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran.Van der Knaap disease: a rare disease with atypical features.A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22.The brain-specific protein MLC1 implicated in megalencephalic leukoencephalopathy with subcortical cysts is expressed in glial cells in the murine brain.Identification of molecular subtypes of glioblastoma by gene expression profiling.Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide.MRI pattern approach of adult-onset inherited leukoencephalopathies.
P2860
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P2860
Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts
description
2002 nî lūn-bûn
@nan
2002 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի մարտին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Identification of novel mutati ...... lopathy with subcortical cysts
@ast
Identification of novel mutati ...... lopathy with subcortical cysts
@en
Identification of novel mutati ...... lopathy with subcortical cysts
@nl
type
label
Identification of novel mutati ...... lopathy with subcortical cysts
@ast
Identification of novel mutati ...... lopathy with subcortical cysts
@en
Identification of novel mutati ...... lopathy with subcortical cysts
@nl
prefLabel
Identification of novel mutati ...... lopathy with subcortical cysts
@ast
Identification of novel mutati ...... lopathy with subcortical cysts
@en
Identification of novel mutati ...... lopathy with subcortical cysts
@nl
P2093
P1433
P1476
Identification of novel mutati ...... lopathy with subcortical cysts
@en
P2093
A A M Könst
C B M Oudejans
J van der Steen
M S van der Knaap
P A J Leegwater
P K I Boor
R B H Schutgens
P2888
P304
P356
10.1007/S00439-002-0682-X
P407
P577
2002-03-01T00:00:00Z
P5875
P6179
1048735384