Lamin B1 duplications cause autosomal dominant leukodystrophy
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Progressive degeneration of human neural stem cells caused by pathogenic LRRK2Loss of a DNA binding site within the tail of prelamin A contributes to altered heterochromatin anchorage by progerinCNV and nervous system diseases--what's new?DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl ResourcesDifferential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosisWhen lamins go bad: nuclear structure and diseaseThe nuclear envelope: an intriguing focal point for neurogenetic diseaseLamin B1 protein is required for dendrite development in primary mouse cortical neuronsA Novel Role of Lamins from Genetic Disease to Cancer BiomarkersLaminopathies and the long strange trip from basic cell biology to therapyDefects of Lipid Synthesis Are Linked to the Age-Dependent Demyelination Caused by Lamin B1 OverexpressionLamin b1 polymorphism influences morphology of the nuclear envelope, cell cycle progression, and risk of neural tube defects in miceNuclear lamins are differentially expressed in retinal neurons of the adult rat retinaMicroRNA-23a promotes myelination in the central nervous systemIs LMNB1 a susceptibility gene for neural tube defects in humans?Abnormal expression of TIP30 and arrested nucleocytoplasmic transport within oligodendrocyte precursor cells in multiple sclerosisLamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model.¹H-MR spectroscopy of adult-onset autosomal dominant leukodystrophy with autonomic symptoms.T (brachyury) gene duplication confers major susceptibility to familial chordoma.Characterization of lamin mutation phenotypes in Drosophila and comparison to human laminopathies.Novel association of APC with intermediate filaments identified using a new versatile APC antibodyLinker of nucleoskeleton and cytoskeleton complex proteins in cardiac structure, function, and disease.Lamin B1 is required for mature neuron-specific gene expression during olfactory sensory neuron differentiation.Diseases of the nuclear envelope.Genetic variation of the Fc gamma receptor 3B gene and association with rheumatoid arthritis.Abnormal development of the cerebral cortex and cerebellum in the setting of lamin B2 deficiency.Lamin-binding ProteinsNuclear envelope and lamin B2 function in the central nervous system.Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal lociLamin B1 levels modulate differentiation into neurons during embryonic corticogenesisThe National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.Dicer ablation in oligodendrocytes provokes neuronal impairment in miceNuclear lamins and neurobiology.Lamin B1 overexpression increases nuclear rigidity in autosomal dominant leukodystrophy fibroblasts.Nuclear envelope protein MAN1 regulates clock through BMAL1Do lamin B1 and lamin B2 have redundant functions?Impact of nuclear organization and dynamics on epigenetic regulation in the central nervous system: implications for neurological disease states.Adult-onset autosomal dominant leukodystrophy: linking nuclear envelope to myelin.The Caenorhabditis elegans SUN protein UNC-84 interacts with lamin to transfer forces from the cytoplasm to the nucleoskeleton during nuclear migration.The lamin protein family.
P2860
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P2860
Lamin B1 duplications cause autosomal dominant leukodystrophy
description
2006 nî lūn-bûn
@nan
2006 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Lamin B1 duplications cause autosomal dominant leukodystrophy
@ast
Lamin B1 duplications cause autosomal dominant leukodystrophy
@en
Lamin B1 duplications cause autosomal dominant leukodystrophy
@nl
type
label
Lamin B1 duplications cause autosomal dominant leukodystrophy
@ast
Lamin B1 duplications cause autosomal dominant leukodystrophy
@en
Lamin B1 duplications cause autosomal dominant leukodystrophy
@nl
prefLabel
Lamin B1 duplications cause autosomal dominant leukodystrophy
@ast
Lamin B1 duplications cause autosomal dominant leukodystrophy
@en
Lamin B1 duplications cause autosomal dominant leukodystrophy
@nl
P2093
P2860
P3181
P356
P1433
P1476
Lamin B1 duplications cause autosomal dominant leukodystrophy
@en
P2093
Anulf Koeppen
Hideaki Asahara
Kazumasa Saigoh
Kirk Hogan
Louis J Ptácek
Quasar S Padiath
Raphael Schiffmann
Takeshi Yamada
Ying-Hui Fu
P2860
P2888
P304
P3181
P356
10.1038/NG1872
P407
P577
2006-10-01T00:00:00Z