Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
about
Overlapping syndromes in laminopathies: a meta-analysis of the reported literatureThe effect of the lamin A and its mutants on nuclear structure, cell proliferation, protein stability, and mobility in embryonic cellsNovel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis.Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies.LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 DiabetesUncoordinated transcription and compromised muscle function in the lmna-null mouse model of Emery- Emery-Dreyfuss muscular dystrophy.RNAi-based gene therapy for dominant Limb Girdle Muscular Dystrophies.LMNA mutations in Polish patients with dilated cardiomyopathy: prevalence, clinical characteristics, and in vitro studiesEmbryonic expression of the common progeroid lamin A splice mutation arrests postnatal skin developmentSystematic identification of pathological lamin A interactors.A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus.Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.Normal and aberrant splicing of LMNA.PKC-mediated phosphorylation of nuclear lamins at a single serine residue regulates interphase nuclear size in Xenopus and mammalian cellsThe distinct roles of the nucleus and nucleus-cytoskeleton connections in three-dimensional cell migration.LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle.Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies.Ameliorating pathogenesis by removing an exon containing a missense mutation: a potential exon-skipping therapy for laminopathies.First report of a novel LMNA mutation in a Chinese family with limb-girdle muscular dystrophy.Role of Lamin A/C Gene Mutations in the Signaling Defects Leading to CardiomyopathiesModeling Skeletal Muscle Laminopathies Using Human Induced Pluripotent Stem Cells Carrying Pathogenic Mutations
P2860
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P2860
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Novel LMNA mutations in patien ...... zation of four LMNA mutations.
@en
Novel LMNA mutations in patien ...... zation of four LMNA mutations.
@nl
type
label
Novel LMNA mutations in patien ...... zation of four LMNA mutations.
@en
Novel LMNA mutations in patien ...... zation of four LMNA mutations.
@nl
prefLabel
Novel LMNA mutations in patien ...... zation of four LMNA mutations.
@en
Novel LMNA mutations in patien ...... zation of four LMNA mutations.
@nl
P2093
P2860
P356
P1433
P1476
Novel LMNA mutations in patien ...... zation of four LMNA mutations.
@en
P2093
Alexander Asamoah
Carla Grosmann
Carol A Crowe
Charlotte A Brown
Diana Escolar
Erynn Gordon
Ismail A Khatri
Jerry R Mendell
Juergen Scharner
Juliet A Ellis
P2860
P304
P356
10.1002/HUMU.21361
P577
2011-01-25T00:00:00Z