Voltage-gated ion channels and hereditary disease

F Lehmann-Horn, K Jurkat-Rott - Physiological reviews, 1999 - journals.physiology.org
By the introduction of technological advancement in methods of structural analysis,
electronics, and recombinant DNA techniques, research in physiology has become …

Calcium sparks in smooth muscle

JH Jaggar, VA Porter, WJ Lederer… - American Journal of …, 2000 - journals.physiology.org
Local intracellular Ca2+ transients, termed Ca2+ sparks, are caused by the coordinated
opening of a cluster of ryanodine-sensitive Ca2+ release channels in the sarcoplasmic …

[图书][B] Thompson & Thompson Genetics in Medicine E-Book: Thompson & Thompson Genetics in Medicine E-Book

RL Nussbaum, RR McInnes, HF Willard - 2015 - books.google.com
Updated to reflect the newest changes in genetics, Thompson & Thompson's Genetics in
Medicine returns as one of the most favored texts in this fascinating and rapidly evolving …

Mutations in RYR1 in malignant hyperthermia and central core disease

R Robinson, D Carpenter, MA Shaw, J Halsall… - Human …, 2006 - Wiley Online Library
The RYR1 gene encodes the skeletal muscle isoform ryanodine receptor and is
fundamental to the process of excitation–contraction coupling and skeletal muscle calcium …

Calcium-induced calcium release in skeletal muscle

M Endo - Physiological reviews, 2009 - journals.physiology.org
Calcium-induced calcium release (CICR) was first discovered in skeletal muscle. CICR is
defined as Ca2+ release by the action of Ca2+ alone without the simultaneous action of …

Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia

DH MacLennan, C Duff, F Zorzato, J Fujii, M Phillips… - Nature, 1990 - nature.com
MALIGNANT hyperthermia (MH) is a potentially lethal condition in which sustained muscle
contracture, with attendant hypercatabolic reactions and elevation in body temperature, are …

European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility

PM Hopkins, H Rüffert, MM Snoeck… - BJA: British Journal …, 2015 - academic.oup.com
It is 30 yr since the British Journal of Anaesthesia published the first consensus protocol for
the laboratory diagnosis of malignant hyperthermia susceptibility from the European …

Malignant-hyperthermia susceptibility is associated with a mutation of the a1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium …

N Monnier, V Procaccio, P Stieglitz, J Lunardi - The American Journal of …, 1997 - cell.com
Malignant hyperthermia susceptibility (MHS) is characterized by genetic heterogeneity.
However, except for the MHS1 locus, which corresponds to the skeletal muscle ryanodine …

[PDF][PDF] Thermogenesis in muscle

BA Block - Annual review of physiology, 1994 - researchgate.net
Skeletal muscles are most often examined at the cellular level in relationship to their primary
role in force generation. Throughout the animal kingdom, regardless of phylogeny, muscle …

A mutation in the human ryanodine receptor gene associated with central core disease

Y Zhang, HS Chen, VK Khanna, S De Leon… - Nature …, 1993 - nature.com
Central core disease (CCD) is a morphologically distinct, autosomal dominant myopathy
with variable clinical features. A close association with malignant hypertheria (MH) has been …