Congenital posterior pole cataract and adult onset dilating cardiomyopathy: expanding the phenotype of αB-crystallinopathies-Reference-Cited by-同舟云学术

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Congenital posterior pole cataract and adult onset dilating cardiomyopathy: expanding the phenotype of αB-crystallinopathies

Published:2013-05-13 Issue:4 Volume:85 Page:381-385
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

van der Smagt J.J.,Vink A.,Kirkels J.H.,Nelen M.,ter Heide H.,Molenschot M.M.C.,Weger R.A.,Schellekens P.A.W.,Hoogendijk J.,Dooijes D.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference17 articles.

1. Ageing and vision: structure, stability and function of lens crystallins;Bloemendal;Prog Mol Biol,2004

2. Genetic modification of the heart: chaperones and the cytoskeleton;Kumarapeli;J Mol Cell Cardiol,2004

3. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy;Vicart;Nat Genet,1998

4. Myofibrillar myopathy caused by novel dominant negative αB-Crystallin mutations;Selcen;Ann Neurol,2003

5. Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks;Otten;Heart Rhythm,2010

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2. CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy;Journal of Human Genetics;2024-01-12

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4. Protein Aggregation and Cataract: Role of Age-Related Modifications and Mutations in α-Crystallins;Biochemistry (Moscow);2022-03

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