CAV3gene sequence variations: National Genome Database and clinics-Reference-Cited by-同舟云学术

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CAV3gene sequence variations: National Genome Database and clinics

Published:2015-01-28 Issue:3 Volume:132 Page:185-190
ISSN:0001-6314
Container-title:Acta Neurologica Scandinavica
language:en
Short-container-title:Acta Neurol Scand

Author:

Stavusis J.¹^ORCID,Inashkina I.¹,Jankevics E.¹,Radovica I.¹,Micule I.¹,Strautmanis J.¹,Naudina M. S.¹,Utkus A.²³,Burnyte B.²³,Lace B.¹

Affiliation:

1. Latvian Biomedical Research and Study Center; Riga Latvia

2. Department of Human and Medical Genetics; Faculty of Medicine; Vilnius University; Vilnius Lithuania

3. Centre for Medical Genetics; Vilnius University Hospital Santariškių Klinikos; Vilnius Lithuania

Funder

ERDF

Publisher

Wiley

Subject

Clinical Neurology,Neurology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ane.12369/fullpdf

Reference19 articles.

1. Caveolin-3 is a direct molecular partner of the Cav 1.1 subunit of the skeletal muscle L-type calcium channel;Couchoux;Int J Biochem Cell Biol,2011

2. Caveolinopathies: from the biology of caveolin-3 to human diseases;Gazzerro;Eur J Hum Genet,2010

3. Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy;Hayashi;Biochem Biophys Res Commun,2004

4. Point mutated caveolin-3 form (P104L) impairs myoblast differentiation via Akt and P38 signalling reduction, leading to an immature cell signature;Stoppani;Biochim Biophys Acta,2011

5. Bruno C Sotgia F Gazzerro E Minetti C Lisanti MP Caveolinopathies http://www.ncbi.nlm.nih.gov/books/NBK1385

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Familial Hyperckemia and Calf Hypertrophy Secondary to a Caveolin-3 Mutation;American Journal of Physical Medicine & Rehabilitation;2020-09-29

2. Inward Rectifier Potassium Channels (Kir2.x) and Caveolin-3 Domain–Specific Interaction;Circulation: Arrhythmia and Electrophysiology;2018-01

3. Inter-individual gene variants associated with trabecular bone plasticity: A step forward in the personal genomics of degenerative bone disease;Injury;2017-11

4. Mutation in the caveolin-3 gene causes asymmetrical distal myopathy;Neuropathology;2016-03-07

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