Detalhe da pesquisa
1.
Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy.
Hum Mol Genet
; 33(3): 254-269, 2024 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37930228
2.
Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility.
Hum Mol Genet
; 31(23): 4087-4093, 2022 11 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35849058
3.
Superoxide flashes in single mitochondria.
Cell
; 134(2): 279-90, 2008 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-18662543
4.
Mouse model of severe recessive RYR1-related myopathy.
Hum Mol Genet
; 28(18): 3024-3036, 2019 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31107960
5.
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.
Genet Med
; 23(7): 1288-1295, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33767344
6.
Genomic Screening for Malignant Hyperthermia Susceptibility.
Anesthesiology
; 133(6): 1277-1282, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32898259
7.
Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3.
Proc Natl Acad Sci U S A
; 114(2): E228-E236, 2017 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28003463
8.
Mechanosensitive Gene Regulation by Myocardin-Related Transcription Factors Is Required for Cardiomyocyte Integrity in Load-Induced Ventricular Hypertrophy.
Circulation
; 138(17): 1864-1878, 2018 10 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-29716942
9.
Substrate-dependent and cyclophilin D-independent regulation of mitochondrial flashes in skeletal and cardiac muscle.
Arch Biochem Biophys
; 665: 122-131, 2019 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30872061
10.
Cardiac metabolic effects of KNa1.2 channel deletion and evidence for its mitochondrial localization.
FASEB J
; : fj201800139R, 2018 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29863912
11.
4-Aminopyridine attenuates muscle atrophy after sciatic nerve crush injury in mice.
Muscle Nerve
; 60(2): 192-201, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31093982
12.
Dmpk gene deletion or antisense knockdown does not compromise cardiac or skeletal muscle function in mice.
Hum Mol Genet
; 25(19): 4328-4338, 2016 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27522499
13.
Reduced threshold for store overload-induced Ca2+ release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease.
Biochem J
; 474(16): 2749-2761, 2017 08 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28687594
14.
Orai1 enhances muscle endurance by promoting fatigue-resistant type I fiber content but not through acute store-operated Ca2+ entry.
FASEB J
; 30(12): 4109-4119, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27587568
15.
Ca2+ Binding/Permeation via Calcium Channel, CaV1.1, Regulates the Intracellular Distribution of the Fatty Acid Transport Protein, CD36, and Fatty Acid Metabolism.
J Biol Chem
; 290(39): 23751-65, 2015 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26245899
16.
Enhanced Ca²âº influx from STIM1-Orai1 induces muscle pathology in mouse models of muscular dystrophy.
Hum Mol Genet
; 23(14): 3706-15, 2014 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24556214
17.
PharmGKB summary: very important pharmacogene information for CACNA1S.
Pharmacogenet Genomics
; 30(2): 34-44, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31851124
18.
Antioxidants protect calsequestrin-1 knockout mice from halothane- and heat-induced sudden death.
Anesthesiology
; 123(3): 603-17, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26132720
19.
Cheng et al. reply.
Nature
; 514(7523): E14-5, 2014 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-25341791
20.
Monovalent cationic channel activity in the inner membrane of nuclei from skeletal muscle fibers.
Biophys J
; 107(9): 2027-36, 2014 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25418088