Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.

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Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

@zh

2016年论文

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name

Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.

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Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.

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label

Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.

@en

Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.

@nl

prefLabel

Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.

@en

Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.

@nl

P1476

Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.

@en

P2093

David F Kisor

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Emily F Loudermilk

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Teresa A Beam

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P2860

The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease

Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy

Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease

Structure/function analysis of the Ca2+ binding and translocation domain of SERCA1 and the role in Brody disease of the ATP2A1 gene encoding SERCA1

Pharmacogenomics knowledge for personalized medicine

Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle

The gene coding for the alpha 1 subunit of the skeletal dihydropyridine receptor (Cchl1a3 = mdg) maps to mouse chromosome 1 and human 1q32

Correlating phenotype and genotype in the periodic paralyses

Calsequestrin (CASQ1) rescues function and structure of calcium release units in skeletal muscles of CASQ1-null mice

Skeletal muscle-specific T-tubule protein STAC3 mediates voltage-induced Ca2+ release and contractility

P304

81-87

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P31

scholarly article

P356

10.1152/PHYSIOLGENOMICS.00126.2016

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P577

2016-12-23T00:00:00Z

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P698

28011884

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P921

pathophysiology