αB-Crystallin mutation in dilated cardiomyopathies: Low prevalence in a consecutive series of 200 unrelated probands
about
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.Missense Mutations in CRYAB Are Liable for Recessive Congenital CataractsαB-Crystallin Interacts with Nav1.5 and Regulates Ubiquitination and Internalization of Cell Surface Nav1.5.Large potentials of small heat shock proteins.Genetic testing for inherited cardiac disease.Small heat-shock proteins: important players in regulating cellular proteostasis.Regulation of αA- and αB-crystallins via phosphorylation in cellular homeostasis.C-terminal interactions mediate the quaternary dynamics of αB-crystallin.Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W).Congenital posterior pole cataract and adult onset dilating cardiomyopathy: expanding the phenotype of αB-crystallinopathies.The role of αB-crystallin in skeletal and cardiac muscle tissues.
P2860
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P2860
αB-Crystallin mutation in dilated cardiomyopathies: Low prevalence in a consecutive series of 200 unrelated probands
description
im August 2006 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 12 June 2006
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в серпні 2006
@uk
name
αB-Crystallin mutation in dila ...... ries of 200 unrelated probands
@en
αB-Crystallin mutation in dila ...... ries of 200 unrelated probands
@nl
type
label
αB-Crystallin mutation in dila ...... ries of 200 unrelated probands
@en
αB-Crystallin mutation in dila ...... ries of 200 unrelated probands
@nl
prefLabel
αB-Crystallin mutation in dila ...... ries of 200 unrelated probands
@en
αB-Crystallin mutation in dila ...... ries of 200 unrelated probands
@nl
P2093
P1476
alphaB-crystallin mutation in ...... ries of 200 unrelated probands
@en
P2093
Andrea Pilotto
Anna Maria Costante
Maurizia Grasso
Michele Pasotti
P304
P356
10.1016/J.BBRC.2006.05.203
P407
P577
2006-06-12T00:00:00Z