A lethal autosomal recessive syndrome of multiple congenital contractures.
about
Gle1 functions during mRNA export in an oligomeric complex that is altered in human diseaseDiagnosing arthrogryposis multiplex congenita: a reviewLethal congenital contracture syndrome: further delineation and genetic aspectsOsteocraniostenosisLethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus.Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individualsLinkage disequilibrium mapping in isolated populations: the example of Finland revisited.Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization.Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.RNA processing defects associated with diseases of the motor neuronPena-Shokeir phenotype (fetal akinesia deformation sequence) revisited.A role for Gle1, a regulator of DEAD-box RNA helicases, at centrosomes and basal bodiesPrenatal assessment of arthrogryposis. A review of the literature.Insights into mRNA export-linked molecular mechanisms of human disease through a Gle1 structure-function analysis.Control of mammalian gene expression by selective mRNA export.Exploring Missense Mutations in Tyrosine Kinases Implicated with Neurodegeneration.Lethal arthrogryposis multiplex congenital (fetal akinesia deformation sequence, FADS).Lethal multiple pterygium syndrome: suggestion for a consistent pathological workup and review of reported cases.Macronodular hepatic tuberculosis in a child: computed tomographic appearances.The roles of intrinsic disorder-based liquid-liquid phase transitions in the "Dr. Jekyll-Mr. Hyde" behavior of proteins involved in amyotrophic lateral sclerosis and frontotemporal lobar degeneration.The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis.Lethal arthrogryposis multiplex congenita: a pathological study of 21 cases.Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.Lethal Multiple Pterygium Syndrome with Complete Intestinal Duplication
P2860
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P2860
A lethal autosomal recessive syndrome of multiple congenital contractures.
description
1985 nî lūn-bûn
@nan
1985 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1985 թվականի մարտին հրատարակված գիտական հոդված
@hy
1985年の論文
@ja
1985年論文
@yue
1985年論文
@zh-hant
1985年論文
@zh-hk
1985年論文
@zh-mo
1985年論文
@zh-tw
1985年论文
@wuu
name
A lethal autosomal recessive syndrome of multiple congenital contractures.
@ast
A lethal autosomal recessive syndrome of multiple congenital contractures.
@en
A lethal autosomal recessive syndrome of multiple congenital contractures.
@nl
type
label
A lethal autosomal recessive syndrome of multiple congenital contractures.
@ast
A lethal autosomal recessive syndrome of multiple congenital contractures.
@en
A lethal autosomal recessive syndrome of multiple congenital contractures.
@nl
prefLabel
A lethal autosomal recessive syndrome of multiple congenital contractures.
@ast
A lethal autosomal recessive syndrome of multiple congenital contractures.
@en
A lethal autosomal recessive syndrome of multiple congenital contractures.
@nl
P2093
P356
P1476
A lethal autosomal recessive syndrome of multiple congenital contractures.
@en
P2093
P304
P356
10.1002/AJMG.1320200303
P577
1985-03-01T00:00:00Z