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PubMed (GeneRIF) for id: 785

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A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions.
Coste de Bagneaux P, von Elsner L, Bierhals T, Campiglio M, Johannsen J, Obermair GJ, Hempel M, Flucher BE, Kutsche K. Coste de Bagneaux P, et al. PLoS Genet. 2020 Mar 16;16(3):e1008625. doi: 10.1371/journal.pgen.1008625. eCollection 2020 Mar. PLoS Genet. 2020. PMID: 32176688 Free PMC article.
The quest for juvenile myoclonic epilepsy genes.
Delgado-Escueta AV, Koeleman BP, Bailey JN, Medina MT, Durón RM. Delgado-Escueta AV, et al. Epilepsy Behav. 2013 Jul;28 Suppl 1:S52-7. doi: 10.1016/j.yebeh.2012.06.033. Epilepsy Behav. 2013. PMID: 23756480 Review.
Cacnb4 directly couples electrical activity to gene expression, a process defective in juvenile epilepsy.
Tadmouri A, Kiyonaka S, Barbado M, Rousset M, Fablet K, Sawamura S, Bahembera E, Pernet-Gallay K, Arnoult C, Miki T, Sadoul K, Gory-Faure S, Lambrecht C, Lesage F, Akiyama S, Khochbin S, Baulande S, Janssens V, Andrieux A, Dolmetsch R, Ronjat M, Mori Y, De Waard M. Tadmouri A, et al. EMBO J. 2012 Sep 12;31(18):3730-44. doi: 10.1038/emboj.2012.226. Epub 2012 Aug 14. EMBO J. 2012. PMID: 22892567 Free PMC article.
Haplotype association mapping of acute lung injury in mice implicates activin a receptor, type 1.
Leikauf GD, Concel VJ, Liu P, Bein K, Berndt A, Ganguly K, Jang AS, Brant KA, Dietsch M, Pope-Varsalona H, Dopico RA Jr, Di YP, Li Q, Vuga LJ, Medvedovic M, Kaminski N, You M, Prows DR. Leikauf GD, et al. Am J Respir Crit Care Med. 2011 Jun 1;183(11):1499-509. doi: 10.1164/rccm.201006-0912OC. Epub 2011 Feb 4. Am J Respir Crit Care Med. 2011. PMID: 21297076 Free PMC article.
11 results