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- 1. 肢帯型筋ジストロフィー limb girdle muscular dystrophy
English Journal
- CAV3 mutation in a patient with transient hyperCKemia and myalgia.
- Macias A1, Gambin T2, Szafranski P3, Jhangiani SN3, Kolasa A4, Obersztyn E5, Lupski JR6, Stankiewicz P3, Kaminska A7.
- Neurologia i neurochirurgia polska.Neurol Neurochir Pol.2016 Nov - Dec;50(6):468-473. doi: 10.1016/j.pjnns.2016.06.008. Epub 2016 Jul 9.
- Mutations in caveolin-3 (CAV3) can lead to different clinical phenotypes affecting skeletal or cardiac muscles. Here, we describe a patient with Klinefelter syndrome, ulcerative colitis and Sjögren syndrome, who developed transient hyperCKemia, myalgia and mild muscular weakness. Using whole exome
- PMID 27772553
- Protein 4.1R Influences Myogenin Protein Stability and Skeletal Muscle Differentiation.
- Huang SC1, Zhou A2, Nguyen DT2, Zhang HS2, Benz EJ Jr2.
- The Journal of biological chemistry.J Biol Chem.2016 Oct 25. pii: jbc.M116.761296. [Epub ahead of print]
- Protein 4.1R (4.1R) isoforms are expressed in both cardiac and skeletal muscle. 4.1R is a component of the contractile apparatus. It is also associated with dystrophin at the sarcolemma in skeletal myofibers. However, the expression and function of 4.1R during myogenesis have not been characterized.
- PMID 27780863
- The Caveolin-3 G56S sequence variant of unknown significance: Muscle biopsy findings and functional cell biological analysis.
- Brauers E1, Roos A2,3, Kollipara L4, Zahedi RP4, Beckmann A5, Mohanadas N1, Bauer H6, Häusler M7, Thoma S8, Kress W9, Senderek J10, Weis J1.
- Proteomics. Clinical applications.Proteomics Clin Appl.2016 Oct 14. doi: 10.1002/prca.201600007. [Epub ahead of print]
- In the era of next generation sequencing, we are increasingly confronted with sequence variants of unknown significance. Here, we focus on three patients carrying the sequence variant G56S in Caveolin-3 who presented with mild to moderate necrotizing myopathy and on the result of a controversial rec
- PMID 27739254
Japanese Journal
- Geranylgeranylacetone protects the heart via caveolae and caveolin-3
- Tsutsumi YM,Tsutsumi R,Horikawa YT,Sakai Y,Hamaguchi E,Ishikawa Y,Yokoyama U,Kasai A,Kambe N,Tanaka K
- LIFE SCIENCES 101(02-1), 43-48, 2014
- NAID 120005597671
- Geranylgeranylacetone and volatile anesthetic-induced cardiac protection synergism is dependent on caveolae and caveolin-3
- Tsutsumi YM,Tsutsumi R,Horikawa YT,Sakai Y,Hamaguchi E,Kitahata H,Kasai A,Kambe N,Tanaka K
- JOURNAL OF ANESTHESIA 28(5), 733-739, 2014
- NAID 120005597327
- A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease
- SUNDBLOM Jimmy,MELBERG Atle,RUCKER Franz,SMITS Anja,ISLANDER Gunilla
- Journal of anesthesia 27(1), 128-131, 2013-02-20
- NAID 10031165394
Related Links
- Nanoscale distribution of ryanodine receptors and caveolin 3 in mouse ventricular myocytes dilation of t tubules near junctions Joseph Wong, David Baddeley, Eric ... Full text download link: Nanoscale distribution of ryanodine ...
- Symbol: CAV3 Name: caveolin 3 Description: ASSOCIATED WITH Cardiomyopathy, Familial Hypertrophic, 1 (ortholog); Creatine Phosphokinase, Elevated Serum (ortholog); Long QT Syndrome 9 (ortholog) Type: protein ...
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★リンクテーブル★
| リンク元 | 「カベオリン3」 |
「カベオリン3」
- 英
- caveolin 3, caveolin-3, CAV3
- 関
- カベオリン-3