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Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability.

Vergult S, Dheedene A, Meurs A, Faes F, Isidor B, Janssens S, Gautier A, Le Caignec C, Menten B.

Eur J Hum Genet. 2015 May;23(5):628-32. doi: 10.1038/ejhg.2014.141. Epub 2014 Jul 30.


Mapping breakpoints of a familial chromosome insertion (18,7) (q22.1; q36.2q21.11) to DPP6 and CACNA2D1 genes in an azoospermic male.

Li L, Chen H, Yin C, Yang C, Wang B, Zheng S, Zhang J, Fan W.

Gene. 2014 Aug 15;547(1):43-9. doi: 10.1016/j.gene.2014.06.007. Epub 2014 Jun 14.


Isolation and characterization of the 5´-upstream region of the human voltage-gated Ca(2+) channel α 2δ-1 auxiliary subunit gene: promoter analysis and regulation by transcription factor Sp1.

Martínez-Hernández E, González-Ramírez R, Sandoval A, Cisneros B, Delgado-Lezama R, Felix R.

Pflugers Arch. 2013 Jun;465(6):819-28. doi: 10.1007/s00424-012-1194-8. Epub 2012 Dec 15.


α2δ expression sets presynaptic calcium channel abundance and release probability.

Hoppa MB, Lana B, Margas W, Dolphin AC, Ryan TA.

Nature. 2012 May 13;486(7401):122-5. doi: 10.1038/nature11033.


Genomic structure and functional expression of a human alpha(2)/delta calcium channel subunit gene (CACNA2).

Schleithoff L, Mehrke G, Reutlinger B, Lehmann-Horn F.

Genomics. 1999 Oct 15;61(2):201-9.


Structural requirement of the calcium-channel subunit alpha2delta for gabapentin binding.

Wang M, Offord J, Oxender DL, Su TZ.

Biochem J. 1999 Sep 1;342 ( Pt 2):313-20.


Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families.

Iles DE, Lehmann-Horn F, Scherer SW, Tsui LC, Olde Weghuis D, Suijkerbuijk RF, Heytens L, Mikala G, Schwartz A, Ellis FR, et al.

Hum Mol Genet. 1994 Jun;3(6):969-75.


Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility.

Chintalapudi SR, Maria D, Di Wang X, Bailey JNC; NEIGHBORHOOD consortium; International Glaucoma Genetics consortium, Hysi PG, Wiggs JL, Williams RW, Jablonski MM.

Nat Commun. 2017 Nov 24;8(1):1755. doi: 10.1038/s41467-017-00837-5.


A 7q21.11 microdeletion presenting with apparent intellectual disability without epilepsy.

Siddique A, Willoughby J; DDD Study, McNeill A.

Am J Med Genet A. 2017 Apr;173(4):1128-1130. doi: 10.1002/ajmg.a.38136. Epub 2017 Feb 27. No abstract available.


Genome-wide environment interaction between depressive state and stressful life events.

Ikeda M, Shimasaki A, Takahashi A, Kondo K, Saito T, Kawase K, Esaki K, Otsuka Y, Mano K, Kubo M, Iwata N.

J Clin Psychiatry. 2016 Jan;77(1):e29-30. doi: 10.4088/JCP.15l10127. No abstract available.


The perfect storm? Histiocytoid cardiomyopathy and compound CACNA2D1 and RANGRF mutation in a baby.

Cataldo S, Annoni GA, Marziliano N.

Cardiol Young. 2015 Jan;25(1):174-6. doi: 10.1017/S1047951113002382. Epub 2014 Jan 17.


Identification of a disulfide bridge essential for structure and function of the voltage-gated Ca(2+) channel α(2)δ-1 auxiliary subunit.

Calderón-Rivera A, Andrade A, Hernández-Hernández O, González-Ramírez R, Sandoval A, Rivera M, Gomora JC, Felix R.

Cell Calcium. 2012 Jan;51(1):22-30. doi: 10.1016/j.ceca.2011.10.002. Epub 2011 Nov 3.


Amperometric measurement of glutamate release modulation by gabapentin and pregabalin in rat neocortical slices: role of voltage-sensitive Ca2+ α2δ-1 subunit.

Quintero JE, Dooley DJ, Pomerleau F, Huettl P, Gerhardt GA.

J Pharmacol Exp Ther. 2011 Jul;338(1):240-5. doi: 10.1124/jpet.110.178384. Epub 2011 Apr 4.


Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6).

Templin C, Ghadri JR, Rougier JS, Baumer A, Kaplan V, Albesa M, Sticht H, Rauch A, Puleo C, Hu D, Barajas-Martinez H, Antzelevitch C, Lüscher TF, Abriel H, Duru F.

Eur Heart J. 2011 May;32(9):1077-88. doi: 10.1093/eurheartj/ehr076. Epub 2011 Mar 7.


A new look at calcium channel α2δ subunits.

Bauer CS, Tran-Van-Minh A, Kadurin I, Dolphin AC.

Curr Opin Neurobiol. 2010 Oct;20(5):563-71. doi: 10.1016/j.conb.2010.05.007. Epub 2010 Jun 25. Review.


Proarrhythmic defects in Timothy syndrome require calmodulin kinase II.

Thiel WH, Chen B, Hund TJ, Koval OM, Purohit A, Song LS, Mohler PJ, Anderson ME.

Circulation. 2008 Nov 25;118(22):2225-34. doi: 10.1161/CIRCULATIONAHA.108.788067. Epub 2008 Nov 10.


Elementary mechanisms producing facilitation of Cav2.1 (P/Q-type) channels.

Chaudhuri D, Issa JB, Yue DT.

J Gen Physiol. 2007 May;129(5):385-401. Epub 2007 Apr 16.


Several structural domains contribute to the regulation of N-type calcium channel inactivation by the beta 3 subunit.

Stotz SC, Barr W, McRory JE, Chen L, Jarvis SE, Zamponi GW.

J Biol Chem. 2004 Jan 30;279(5):3793-800. Epub 2003 Nov 5.


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