| 1 | CACNA1S, HOKPP1
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| Novel CACNA1S mutation in hypokalaemic periodic paralysis.
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| Luís T, Linhares MI, Silva SR, Rodrigues F.
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| BMJ Case Rep. Jan 17;15(1):e245952. doi: 10.1136/bcr-2021-245952 2022
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| 2 | CACNA1S, MRTFA
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| MRTF-A regulates Ca2+ release through CACNA1S
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| Liang C, Xu Y, Peng Z, Luo Y, Zhang T
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| J Biosci. 46:40 2021
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| 3 | CACNA1S
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| Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant
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| Anandan C, Cipriani MA, Laughlin RS, Niu Z, Milone M.
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| Eur J Neurol. Feb;25(2):417-419. doi: 10.1111/ene.13528. Epub 2017 Dec 26 2018
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| 4 | CACNA1S, MHS5
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| Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia
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| Beam TA, Loudermilk EF, Kisor DF
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| Physiol Genomics. Feb 1;49(2):81-87. doi: 10.1152/physiolgenomics.00126.2016. Epub 2016 Dec 23 2017
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| 5 | CACNA1S
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| CACNA1S expression in mouse retina: Novel isoforms and antibody cross-reactivity with GPR179
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| Hasan N, Ray TA, Gregg RG.
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| Vis Neurosci. Jan;33:E009. doi: 10.1017/S0952523816000055 2016
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| 6 | ARR3, CACNA1S, CRX, GUCA1B, MEF2D, PDE6H
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| Mef2d is essential for the maturation and integrity of retinal photoreceptor and bipolar cells.
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| Omori Y, Kitamura T, Yoshida S, Kuwahara R, Chaya T, Irie S, Furukawa T.
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| Genes Cells 20(5):408-26. doi: 10.1111/gtc.12233. Epub 2015 Mar 11. 2015
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| 7 | CACNA1S
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| Localization of Cacna1s to ON bipolar dendritic tips requires mGluR6-related cascade elements. 2014 PMID:
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| Tummala SR, Neinstein A, Fina ME, Dhingra A, Vardi N
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| Invest Ophthalmol Vis Sci. Mar 10;55(3):1483-92. doi: 10.1167/iovs.13-13766. 2014
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| 8 | CACNA1S
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| Cav1.1 controls frequency-dependent events regulating adult skeletal muscle plasticity
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| Jorquera G, Altamirano F, Contreras-Ferrat A, Almarza G, Buvinic S, Jacquemond V, Jaimovich E, Casas M
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| J Cell Sci. Mar 1;126(Pt 5):1189-98. doi: 10.1242/jcs.116855. Epub 2013 Jan 15 2013
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| 9 | CACNA1S, MHS5
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| A report of fulminant malignant hyperthermia in a patient with a novel mutation of the CACNA1S gene
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| Toppin PJ, Chandy TT, Ghanekar A, Kraeva N, Beattie WS, Riazi S
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| Can J Anaesth. Jul;57(7):689-93. doi: 10.1007/s12630-010-9314-4. Epub 2010 Apr 30 2010
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| 10 | CACNA1S
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| The role of CACNA1S in predisposition to malignant hyperthermia.
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| Carpenter D, Ringrose C, Leo V, Morris A, Robinson RL, Halsall PJ, Hopkins PM, Shaw MA.
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| BMC Med Genet 10:104.PMID: 19825159 2009
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| 11 | CACNA1S, HOPKPP1
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| Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.
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| Matthews E, Labrum R, Sweeney MG, Sud R, Haworth A, Chinnery PF, Meola G, Schorge S, Kullmann DM, Davis MB, Hanna MG.
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| Neurology 72(18):1544-7. Epub 2008 Dec 31.PMID: 19118277 2009
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| 12 | CACNA1S, HOKPP1
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| Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.
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| Ke T, Gomez CR, Mateus HE, Castano JA, Wang QK.
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| J Hum Genet 54(11):660-4. Epub 2009 Sep 25.PMID: 19779499 2009
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| 13 | CACNA1S, HOKPP1
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| Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene.
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| Chabrier S, Monnier N, Lunardi J.
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| J Med Genet 45(10):686-8.
2008
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| 14 | CACNA1S, HOKPP1
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| Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family.
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| Houinato D, Laleye A, Adjien C, Adjagba M, Sternberg D, Hilbert P, Vallat JM, Darboux RB, Funalot B, Avode DG.
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| Neuromuscul Disord 17(5):419-22. Epub 2007 Apr 5.
2007
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| 15 | MHS1, MHS5, CACNA1S, RYR1
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| Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.
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| Monnier N, Kozak-Ribbens G, Krivosic-Horber R, Nivoche Y, Qi D, Kraev N, Loke J, Sharma P, Tegazzin V, Figarella-Branger D, Romero N, Mezin P, Bendahan D, Payen JF, Depret T, Maclennan DH, Lunardi J.
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| Hum Mutat 26(5):413-25. 2005
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| 16 | CACNA1S, HOKPP1
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| Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family.
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| Wang Q, Liu M, Xu C, Tang Z, Liao Y, Du R, Li W, Wu X, Wang X, Liu P, Zhang X, Zhu J, Ren X, Ke T, Wang Q, Yang J.
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| J Mol Med 83(3):203-8. Epub 2005 Feb 22. 2005
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| 17 | CACNA1B, CACNA1S
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| Interaction between the dihydropyridine receptor Ca2+ channel beta-subunit and ryanodine receptor type 1 strengthens excitation-contraction coupling.
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| Cheng W, Altafaj X, Ronjat M, Coronado R.
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| Proc Natl Acad Sci U S A 102(52):19225-30. Epub 2005 Dec 15.
2005
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| 18 | CACNA1S, MHS5
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| 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.
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| Monnier N, Procaccio V, Stieglitz P, Lunardi J.
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| Am J Hum Genet 60(6):1316-25. 1997
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| 19 | CACNA1S
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| The structure of the gene encoding the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3).
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| Hogan K, et al.
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| Genomics 31 : 392-394. 1996
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| 20 | HOKPP1, CACNA1S
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| Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3) : genotype/phenotype correlations for two predominant mutations and evidence for the abscence of a founder effect in 16 Caucasian families.
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| Elbaz A, et al.
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| Am J Hum Genet 56 : 374-380. 1995
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| 21 | HOKPP1, CACNA1S
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| Mutation in DHP receptor alpha1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis.
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| Boerman RH, et al.
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| J Med Genet 32 : 44-47. 1995
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| 22 | HOKPP1, CACNA1S, SCN4A, COL18A1, MCR, MCT
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| The skeletal muscle sodium and chloride channel diseases.
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| Hudson AJ, et al.
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| Brain 118 : 547-563. 1995
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| 23 | CACNA1S
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| Refined localization of the alpha 1-subunit of the skeletal muscle L-type voltage-dependent calcium channel (CACNL1A3) to human chromosome 1q32 by in situ hybridization.
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| Iles DE, et al.
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| Genomics 19 : 561-563. 1994
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| 24 | HOKPP1, CACNA1S
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| Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.
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| Ptacek LJ, et al.
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| Cell 77 : 863-868. 1994
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| 25 | CACNA1S, HOKPP1
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| A calcium channel mutation causing hypokalemic periodic paralysis.
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| Jurkat-Rott K, et al.
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| Hum Mol Genet 3 : 1415-1419. 1994
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| 26 | HOKPP1, CACNA1S
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| Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP).
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| Plassart E, et al.
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| Hum Genet 94 : 551-556. 1994
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| 27 | CACNA1S, HOKPP1
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| Cloning of the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3).
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| Hogan K, et al.
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| Genomics 24 : 608-609. 1994
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| 28 | CACNA1S
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| The gene coding for the alpha 1 subunit of the skeletal dihydropyridine receptor (Cchl1a3 = mdg) maps to mouse chromosome 1 and human 1q32.
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| Drouet B, et al.
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| Mamm Genome 4 : 499-503. 1993
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| 29 | CACNA1S
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| Assignment of the human gene for the alpha1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32.
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| Gregg RG, et al.
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| Genomics 15 : 107-112. 1993
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| 30 | CACNA1S, CACNB1
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| Mapping of dihydropyridine-sensitive calcium channel subunits in humans.
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| Powers PA, et al.
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| Am J Hum Genet 49S : 386. 1991
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