Citations for
1CLCN3, NEDHYBA, NEDSBA
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders
Duncan AR, Polovitskaya MM, Gaitán-Peńas H, Bertelli S, VanNoy GE, Grant PE, O'Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, Agolini E, Madden JA, Schmitz-Abe K, Kritzer A, Hawley P, Novelli A, Alfieri P, Colafati GS, Wieczorek D, Platzer K, Luppe J, Koch-Hogrebe M, Abou Jamra R, Neira-Fresneda J, Lehman A, Boerkoel CF, Seath K, Clarke L; CAUSES Study, van Ierland Y, Argilli E, Sherr EH, Maiorana A, Diel T, Hempel M, Bierhals T, Estévez R, Jentsch TJ, Pusch M, Agrawal PB.
Am J Hum Genet. 1 Aug 5;108(8):1450-1465. doi: 10.1016/j.ajhg.2021.06.003. Epub 2021 Jun 28. 2021
2CLCN3, SLC12A1, SLC12A2
Aberrant Expression of Sodium-Potassium-Chloride Cotransporter in Endometriosis
Lee I, Jeon MJ, Kim JS, Park JH, Won BH, Kim H, Lee JH, Yun BH, Park JH, Seo SK, Choi YS, Cho S, Lee BS.
Reprod Sci. Sep;28(9):2641-2648. doi: 10.1007/s43032-021-00531-4. Epub 2021 Mar 11. Erratum in: Reprod Sci. 2021 Mar 24; 2021
3CLCN3
Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration.
Weinert S, Gimber N, Deuschel D, Stuhlmann T, Puchkov D, Farsi Z, Ludwig CF, Novarino G, López-Cayuqueo KI, Planells-Cases R, Jentsch TJ.
EMBO J. May 4;39(9):e103358. doi: 10.15252/embj.2019103358. Epub 2020 Mar 2. 2020
4CLCN3, CLCN5, TRPV1
Identification of Chloride Channels CLCN3 and CLCN5 Mediating the Excitatory Cl- Currents Activated by Sphingosine-1-Phosphate in Sensory Neurons. 2018 PMID:
Qi Y, Mair N, Kummer KK, Leitner MG, Camprubí-Robles M, Langeslag M, Kress M.
Front Mol Neurosci. Feb 9;11:33. doi: 10.3389/fnmol.2018.00033. 2018
5CLCN3, CLCN4
Preferential association with ClC-3 permits sorting of ClC-4 into endosomal compartments.
Guzman RE, Bungert-Plümke S, Franzen A, Fahlke C.
J Biol Chem. Nov 17;292(46):19055-19065. doi: 10.1074/jbc.M117.801951. Epub 2017 Sep 26. 2017
6CLCN3
ClC-3 chloride channel functions as a mechanically sensitive channel in osteoblasts
Wang H, Wang R, Wang Z, Liu Q, Mao Y, Duan X.
Biochem Cell Biol. 5 Dec;93(6):558-65. doi: 10.1139/bcb-2015-0018. Epub 2015 Jul 13. 2015
7CLCN3
Neuronal ClC-3 Splice Variants Differ in Subcellular Localizations, but Mediate Identical Transport Functions.
Guzman RE, Miranda-Laferte E, Franzen A, Fahlke C.
J Biol Chem. Oct 23;290(43):25851-62. doi: 10.1074/jbc.M115.668186. Epub 2015 Sep 4. 2015
8CLCN3
Involvement of ClC-3 chloride/proton exchangers in controlling glutamatergic synaptic strength in cultured hippocampal neurons
Guzman RE, Alekov AK, Filippov M, Hegermann J, Fahlke C
Front Cell Neurosci. May 23;8:143. doi: 10.3389/fncel.2014.00143 2014
9CLCN3
A critical role for chloride channel-3 (CIC-3) in smooth muscle cell activation and neointima formation.
Chu X, Filali M, Stanic B, Takapoo M, Sheehan A, Bhalla R, Lamb FS, Miller FJ Jr.
Arterioscler Thromb Vasc Biol 31(2):345-51. Epub 2010 Nov 11. 2011
10CLCN3
Expression patterns of ClC-3 mRNA and protein in aortic smooth muscle, kidney and brain in diabetic rats.
Fu J, Fu J, Gao B, Wang L, Zhang N, Li X, Ji Q.
Clin Invest Med 33(3):E146-54. 2010
11CLCN3
Chloride channel ClC-3 promotion of osteogenic differentiation through Runx2.
Wang H, Mao Y, Zhang B, Wang T, Li F, Fu S, Xue Y, Yang T, Wen X, Ding Y, Duan X.
J Cell Biochem 111(1):49-58. 2010
12CAMK2G, CLCN3
Molecular interaction and functional regulation of ClC-3 by Ca2+/calmodulin-dependent protein kinase II (CaMKII) in human malignant glioma.
Cuddapah VA, Sontheimer H.
J Biol Chem 285(15):11188-96. Epub 2010 Feb 5. 2010
13CLCN3
Cardiac-specific overexpression of the human short CLC-3 chloride channel isoform in mice.
Xiong D, Wang GX, Burkin DJ, Yamboliev IA, Singer CA, Rawat S, Scowen P, Evans R, Ye L, Hatton WJ, Tian H, Keller PS, McCloskey DT, Duan D, Hume JR.
Clin Exp Pharmacol Physiol 36(4):386-93. Epub 2008 Oct 15. 2009
14CLCN3
ClC3 is a critical regulator of the cell cycle in normal and malignant glial cells.
Habela CW, Olsen ML, Sontheimer H.
J Neurosci 28(37):9205-17. 2008
15CLCN3
ClC-3 is required for LPA-activated Cl- current activity and fibroblast-to-myofibroblast differentiation.
Yin Z, Tong Y, Zhu H, Watsky MA.
Am J Physiol Cell Physiol 294(2):C535-42. Epub 2007 Dec 12. 2008
16CLCN3
Possible role of transforming growth factor beta and interleukin-4 in the up-regulation of CLC-2 and CLC-3 in chronic rhinosinusitis.
Li H, Jiang H, Cheng L, Oh Y, Xu G.
Am J Rhinol 21(4):389-94. 2007
17CLCN3
Endotoxin Priming of Neutrophils Requires NADPH Oxidase-generated Oxidants and Is Regulated by the Anion Transporter ClC-3.
Moreland JG, Davis AP, Matsuda JJ, Hook JS, Bailey G, Nauseef WM, Lamb FS.
J Biol Chem 282(47):33958-67. Epub 2007 Oct 1. 2007
18CLCN3, SLC9A3R1
ClC-3B, a novel ClC-3 splicing variant that interacts with EBP50 and facilitates expression of CFTR-regulated ORCC.
Ogura T, Furukawa T, Toyozaki T, Yamada K, Zheng YJ, Katayama Y, Nakaya H, Inagaki N.
FASEB J 16(8):863-5. Epub 2002 Apr 10. 2002
19CLCN3
Refined localisation of the voltage-gated chloride channel, CLCN3, to 4q33.
Taine L, Coupry I, Boisseau P, Saura R, Lacombe D, Arveiler B.
Hum Genet 102(2):178-81. 1998
20CLCN3
Genetic and physical mapping of a voltage-dependent chloride channel gene to human 4q32 and to mouse 8.
Mills KA, et al.
Genomics 36 : 374-376 1996
21CLCN3, CLCNKA, CLCNKB
Assignment of the genes encoding the human chloride channels, CLCNKA and CLCNKB, to 1p36 and of CLCN3 to 4q32-q33 by in situ hybridization.
Saito-Ohara F, et al.
Genomics 36 : 372-374. 1996
22CLCN3
Characterization of a human and murine gene (CLCN3) sharing similaritiesto voltage-gated chloride channels and to a yeast integral membrane protein.
Borsani G, et al.
Genomics 27 : 131-141. 1995
23CLCN3, NPHL2
Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis).
Fisher SE, et al.
Hum Mol Genet 3 : 2053-2059. 1994
24CLCN3
Molecular cloning of a chloride channel that is regulated by dehydration and expressed predominantly in kidney medulla.
Uchida S, et al.
J Biol Chem 268 : 3821-3824. 1993