| 1 | ACCPN, SLC12A6
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| De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy
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| Park J, Flores BR, Scherer K, Kuepper H, Rossi M, Rupprich K, Rautenberg M, Deininger N, Weichselbaum A, Grimm A, Sturm M, Grasshoff U, Delpire E, Haack TB.
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| J Med Genet. Apr;57(4):283-288. doi: 10.1136/jmedgenet-2019-106273. Epub 2019 Aug 22. 2020
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| 2 | ACCPN, SLC12a6
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| A Novel Splice-Site Variant in SLC12A6 Causes Andermann Syndrome without Agenesis of the Corpus Callosum
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| Al Shibli N, Al-Maawali A, Elmanzalawy A, Al-Nabhani M, Koul R, Gabr A, Al Murshedi F.
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| J Pediatr Genet. Dec;9(4):293-295. doi: 10.1055/s-0039-1700975. Epub 2020 Jan 6. 2020
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| 3 | SLC12A6
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| A role for KCC3 in maintaining cell volume of peripheral nerve fibers.
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| Flores B, Schornak CC, Delpire E.
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| Neurochem Int. Feb;123:114-124. doi: 10.1016/j.neuint.2018.01.009. Epub 2018 Jan 31 2019
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| 4 | SLC12A1, SLC12A6
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| Tyrosine phosphorylation modulates cell surface expression of chloride cotransporters NKCC2 and KCC3
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| Loureiro CA, Barros P, Matos P, Jordan P.
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| Arch Biochem Biophys. ul 15;669:61-70. doi: 10.1016/j.abb.2019.05.022. Epub 2019 May 28. Erratum in: Arch Biochem Biophys. 2021 Jun 15;704:108814. 2019
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| 5 | ACCPN, SLC12A6
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| KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects.
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| Bowerman M, Salsac C, Bernard V, Soulard C, Dionne A, Coque E, Benlefki S, Hince P, Dion PA, Butler-Browne G, Camu W, Bouchard JP, Delpire E, Rouleau GA, Raoul C, Scamps F.
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| Neurobiol Dis. Oct;106:35-48. doi: 10.1016/j.nbd.2017.06.013. Epub 2017 Jun 21 2017
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| 6 | SLC12A6
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| Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter
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| Kahle KT, Flores B, Bharucha-Goebel D, Zhang J, Donkervoort S, Hegde M, Hussain G, Duran D, Liang B, Sun D, Bönnemann CG, Delpire E.
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| Sci Signal. Aug 2;9(439):ra77. doi: 10.1126/scisignal.aae0546. 2016
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| 7 | SLC12A6, STK39
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| SPAK mediates KCC3-enhanced cervical cancer tumorigenesis.
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| Chiu MH, Liu HS, Wu YH, Shen MR, Chou CY.
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| FEBS J 281(10):2353-65. doi: 10.1111/febs.12787. Epub 2014 Apr 7.
2014
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| 8 | SLC12A6, SLC12A7
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| Molecular evidence for a role for K(+)-Cl(-) cotransporters in the kidney.
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| Melo Z, Cruz-Rangel S, Bautista R, Vázquez N, Castañeda-Bueno M, Mount DB, Pasantes-Morales H, Mercado A, Gamba G.
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| Am J Physiol Renal Physiol. Nov 15;305(10):F1402-11. doi: 10.1152/ajprenal.00390.2013. Epub 2013 Oct 2. 2013
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| 9 | SLC12A6
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| Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum.
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| Shekarabi M, Moldrich RX, Rasheed S, Salin-Cantegrel A, Laganière J, Rochefort D, Hince P, Huot K, Gaudet R, Kurniawan N, Sotocinal SG, Ritchie J, Dion PA, Mogil JS, Richards LJ, Rouleau GA.
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| J Neurosci. Mar 14;32(11):3865-76. doi: 10.1523/JNEUROSCI.3679-11.2012 2012
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| 10 | SLC12A4, SLC12A6, SLC12A7
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| K-Cl cotransporter gene expression during human and murine erythroid differentiation
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| Pan D, Kalfa TA, Wang D, Risinger M, Crable S, Ottlinger A, Chandra S, Mount DB, Hübner CA, Franco RS, Joiner CH.
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| J Biol Chem. Sep 2;286(35):30492-30503. doi: 10.1074/jbc.M110.206516. Epub 2011 Jul 6. 2011
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| 11 | SLC12A4, SLC12A5, SLC12A6, SLC12A7
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| Functional association between K+-Cl- cotransporter-4 and H+,K+-ATPase in the apical canalicular membrane of gastric parietal cells.
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| Fujii T, Takahashi Y, Ikari A, Morii M, Tabuchi Y, Tsukada K, Takeguchi N, Sakai H.
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| J Biol Chem 284(1):619-29. Epub 2008 Nov 4. 2009
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| 12 | SLC12A4, SLC12A5, SLC12A6, SLC12A7, WNK3
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| Renal and brain isoforms of WNK3 have opposite effects on NCCT expression.
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| Glover M, Zuber AM, O'Shaughnessy KM.
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| J Am Soc Nephrol 20(6):1314-22. Epub 2009 May 21.
2009
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| 13 | ACCPN, SLC12A6
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| HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.
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| Salin-Cantegrel A, Shekarabi M, Holbert S, Dion P, Rochefort D, Laganière J, Dacal S, Hince P, Karemera L, Gaspar C, Lapointe JY, Rouleau GA.
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| Hum Mol Genet 17(17):2703-11. Epub 2008 Jun 19.
2008
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| 14 | SLC12A6
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| KCl cotransporter-3 down-regulates E-cadherin/beta-catenin complex to promote epithelial-mesenchymal transition.
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| Hsu YM, Chen YF, Chou CY, Tang MJ, Chen JH, Wilkins RJ, Ellory JC, Shen MR.
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| Cancer Res 67(22):11064-73. 2007
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| 15 | IGF1, SLC12A4, SLC12A5, SLC12A6, SLC12A7
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| IGF-1 upregulates electroneutral K-Cl cotransporter KCC3 and KCC4 which are differentially required for breast cancer cell proliferation and invasiveness.
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| Hsu YM, Chou CY, Chen HH, Lee WY, Chen YF, Lin PW, Alper SL, Ellory JC, Shen MR.
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| J Cell Physiol 210(3):626-36.
2007
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| 16 | ACCPN, SLC12A6
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| Distal truncation of KCC3 in non-French Canadian HMSN/ACC families.
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| Salin-Cantegrel A, Rivière JB, Dupré N, Charron FM, Shekarabi M, Karéméra L, Gaspar C, Horst J, Tekin M, Deda G, Krause A, Lippert MM, Willemsen MA, Jarrar R, Lapointe JY, Rouleau GA.
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| Neurology 69(13):1350-5.PMID: 17893295 2007
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| 17 | SLC12A4, SLC12A5, SLC12A6, SLC12A7
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| K-Cl cotransport function and its potential contribution to cardiovascular disease.
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| Adragna NC, Lauf PK.
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| Pathophysiology 14(3-4):135-46. Epub 2007 Oct 18.PMID: 17949953 2007
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| 18 | SLC12A6, ACCPN
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| Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome.
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| Uyanik G, Elcioglu N, Penzien J, Gross C, Yilmaz Y, Olmez A, Demir E, Wahl D, Scheglmann K, Winner B, Bogdahn U, Topaloglu H, Hehr U, Winkler J.
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| Neurology 66(7):1044-8. Erratum in: Neurology. 2006 Oct 24;67(8):1528. 2006
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| 19 | SLC12A4, SLC12A5, SLC12A6, SLC12A7
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| KCC isoforms in a human lens epithelial cell line (B3) and lens tissue extracts.
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| Misri S, Chimote AA, Adragna NC, Warwar R, Brown TL, Lauf PK.
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| Exp Eye Res 83(5):1287-94. Epub 2006 Sep 1.
2006
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| 20 | SLC12A1, SLC12A2, SLC12A3, SLC12A4, SLC12A5, SLC12A6, SLC12A7, SLC12A8, SLC12A9
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| Molecular physiology of cation-coupled Cl- cotransport: the SLC12 family.
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| Hebert SC, Mount DB, Gamba G.
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| Pflugers Arch 447(5):580-93. Epub 2003 May 9. Review. 2004
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| 21 | ACCPN, SLC12A6
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| Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold.
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| Boettger T, Rust MB, Maier H, Seidenbecher T, Schweizer M, Keating DJ, Faulhaber J, Ehmke H, Pfeffer C, Scheel O, Lemcke B, Horst J, Leuwer R, Pape HC, Volkl H, Hubner CA, Jentsch TJ.
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| EMBO J 22(20):5422-34. 2003
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| 22 | ACCPN, SLC12A6
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| The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
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| Howard HC, Mount DB, Rochefort D, Byun N, Dupre N, Lu J, Fan X, Song L, Riviere JB, Prevost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL Jr, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA.
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| Nat Genet 32(3):384-92. 2002
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| 23 | SLC12A6
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| Localization of the K(+)-Cl(-) cotransporter, KCC3, in the central and peripheral nervous systems: expression in the choroid plexus, large neurons and white matter tracts.
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| Pearson MM, Lu J, Mount DB, Delpire E.
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| Neuroscience 103(2):481-91. 2001
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| 24 | SLC12A6, SLC12A7
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| Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family.
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| Mount DB, et al.
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| J Biol Chem 274(23):16355-62. 1999
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| 25 | SLC12A6
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| Cloning, characterization, and chromosomal location of a novel human K+-Cl- cotransporter.
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| Hiki K, et al.
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| J Biol Chem 274(15):10661-7. 1999
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| 26 | SLC12A6
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| Molecular cloning and functional characterization of KCC3, a new K-Cl cotransporter.
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| Race JE, Makhlouf FN, Logue PJ, Wilson FH, Dunham PB, Holtzman EJ.
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| Am J Physiol 277(6 Pt 1):C1210-9. 1999
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