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
about
Malignant hyperthermiaPractical aspects in the management of hypokalemic periodic paralysisJP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptorMuscle channelopathies and critical points in functional and genetic studies.Inhibition of sarcoplasmic Ca2+-ATPase increases caffeine- and halothane-induced contractures in muscle bundles of malignant hyperthermia susceptible and healthy individuals.PharmGKB summary: succinylcholine pathway, pharmacokinetics/pharmacodynamicsCa(V)1.1: The atypical prototypical voltage-gated Ca²⁺ channelChannelopathies of skeletal muscle excitabilityIdentification of new polymorphisms in the CACNA1S geneCalcium currents and transients in co-cultured contracting normal and Duchenne muscular dystrophy human myotubesAnesthetic- and heat-induced sudden death in calsequestrin-1-knockout miceExome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families.Neurological channelopathies.Integrative data mining highlights candidate genes for monogenic myopathies.The role of CACNA1S in predisposition to malignant hyperthermiaNeuromuscular disease and calcium channels.Development of molecular genetics.Calcium Dynamics Mediated by the Endoplasmic/Sarcoplasmic Reticulum and Related Diseases.Genetics and pathogenesis of malignant hyperthermia.Neurological channelopathies: diagnosis and therapy in the new millennium.Ca2+ influx via the Na+/Ca2+ exchanger is enhanced in malignant hyperthermia skeletal muscle.Ryanodine receptor mutations in malignant hyperthermia and central core disease.Unraveling monogenic channelopathies and their implications for complex polygenic diseaseA malignant hyperthermia-inducing mutation in RYR1 (R163C): alterations in Ca2+ entry, release, and retrograde signaling to the DHPR.Rhabdomyolysis: a review.Channelopathies: ion channel defects linked to heritable clinical disorders.Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2+ channel and the type 1 ryanodine receptorMalignant hyperthermia and excitation-contraction coupling.EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. First of two parts.Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.Management of malignant hyperthermia: diagnosis and treatment.Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit.Muscle weakness in Ryr1I4895T/WT knock-in mice as a result of reduced ryanodine receptor Ca2+ ion permeation and release from the sarcoplasmic reticulum.A minimally invasive metabolic test with intramuscular injection of halothane 5 and 6 vol% to detect probands at risk for malignant hyperthermia.Primary periodic paralyses.Malignant hyperthermia: a pharmacogenetic disorder.Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family.Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor.Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies
P2860
Q21203008-555C9A5A-ECD9-4A8D-951A-4EC4C835DC77Q21245474-CD75C42B-13DC-4EEA-8316-04EBA1B5C77FQ24297615-2949D365-4AB0-481D-B995-2D895DE473F6Q24532297-03C03C92-1B83-4CCD-8887-0FD83D77B5EFQ24811101-F752AE3E-821B-42B7-9E71-E210EE6C82E5Q26781824-0FC57474-6522-48FD-A713-BDD05F818D25Q26866428-6407143B-AADD-4051-9AA7-1478A538DBA0Q28082428-9C7E44F2-21AD-49A9-B1BE-2E5A0281EF98Q28183047-75226E88-9FFE-4F73-B1C5-CF19D90DABAAQ28344004-AABE90B1-A5D9-4852-8018-BDA6D04454CFQ28511309-02B3A90A-6FA2-4BBD-B264-9B8C14886BC1Q30426901-3EC6FD9E-5803-4252-A771-398C38137135Q30493341-697C28C5-BEB3-4E22-A4AB-93A37A353830Q30865267-9F1D8C39-AF9B-496D-9E8C-82F88F31E99DQ33510262-52AA9549-7A16-450B-AA32-D3D607930E94Q33733240-EBDB65BC-8339-4755-8967-91BA0CDAA992Q33746321-3D4DDBB7-6954-4CEF-B110-669CBB5E692BQ33755195-CE3A6628-14BD-4F8B-85B0-81671E2CF559Q33789806-2C0890EF-A01A-4A99-B460-CA1725E0E7ACQ33841654-7ABE161A-F48F-4B18-A9D4-36F1F84AE32FQ33846552-3BDD90AD-BAAE-4254-9CAB-4F56735179ABQ33903152-82B3FCF5-11B1-49DC-9C72-6A1B98A7367FQ33905030-B1704B49-412B-4631-A2B8-F4C4BCAF7C06Q33922807-5B0CA63D-33B5-4A50-96DD-87F14BBD1941Q33957693-FAF92A33-41C1-4A62-8A0B-4473A7F014EAQ34051594-9131E99C-D3BB-4C61-A7E9-8CAE4E17C1D9Q34252541-A56314AA-ACC1-4C08-A7DE-5549FFB0E148Q34285881-6C829BD0-7300-4316-BF2C-EBE630F78C9AQ34291485-7886FCB3-DE20-4771-B008-003AEA2FA1E7Q34384665-7C307DAB-F9D9-43AB-9482-BA9D4B60722DQ34421643-95DC3D2E-97E5-44B1-8986-405D8D716574Q34426471-62579C1B-A0C5-4050-A97D-94A142337E85Q34439584-D80947C7-D37F-4846-9983-A2BEC18FF7B2Q34662841-497BBF94-ADBB-4E14-8C27-EC98E40ED6E4Q34716758-F3477C58-4812-4894-8D57-524C45B8235AQ34883560-CBED679D-40AF-4C10-BE42-72ABD41A6F6AQ35054061-043DEECE-822A-4FEC-B22E-8FE387DDCECBQ35060776-94949624-9F71-4D97-B6E9-D488C8417104Q35104636-CA23DC6E-F636-4C09-B2A2-F75E4375CB47Q35209452-4BFA2760-907A-4DCA-A87B-8619E8604C9C
P2860
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
description
1997 nî lūn-bûn
@nan
1997 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Malignant-hyperthermia suscept ...... el receptor in skeletal muscle
@ast
Malignant-hyperthermia suscept ...... el receptor in skeletal muscle
@en
Malignant-hyperthermia suscept ...... el receptor in skeletal muscle
@nl
type
label
Malignant-hyperthermia suscept ...... el receptor in skeletal muscle
@ast
Malignant-hyperthermia suscept ...... el receptor in skeletal muscle
@en
Malignant-hyperthermia suscept ...... el receptor in skeletal muscle
@nl
prefLabel
Malignant-hyperthermia suscept ...... el receptor in skeletal muscle
@ast
Malignant-hyperthermia suscept ...... el receptor in skeletal muscle
@en
Malignant-hyperthermia suscept ...... el receptor in skeletal muscle
@nl
P2093
P2860
P356
P1476
Malignant-hyperthermia suscept ...... el receptor in skeletal muscle
@en
P2093
P2860
P304
P356
10.1086/515454
P407
P577
1997-06-01T00:00:00Z