Citations for
1NHPT1, SLC12A1
Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter with Neonatal Primary Hyperparathyroidism.
Li D, Tian L, Hou C, Kim CE, Hakonarson H, Levine MA.
J Clin Endocrinol Metab Clin Endocrinol Metab. 2016 Mar 10:jc20161211. [Epub ahead of print] 2016
2SLC12A1, VAMP3
Vesicle-associated Membrane Protein 3 (VAMP3) Mediates Constitutive Trafficking of the Renal Co-transporter NKCC2 in Thick Ascending Limbs: ROLE IN RENAL FUNCTION AND BLOOD PRESSURE.
Caceres PS, Mendez M, Haque MZ, Ortiz PA.
J Biol Chem 291(42):22063-22073. Epub 2016 Aug 22. 2016
3SLC12A1, SLC12A2
Increased Slc12a1 expression in β-cells and improved glucose disposal in Slc12a2 heterozygous mice.
Alshahrani S, Almutairi MM, Kursan S, Dias-Junior E, Almiahuob MM, Aguilar-Bryan L, Di Fulvio M.
J Endocrinol 227(3):153-65. doi: 10.1530/JOE-15-0327. Epub 2015 Sep 23. 2015
4SLC12A1
Osmoregulation requires brain expression of the renal Na-K-2Cl cotransporter NKCC2.
Konopacka A, Qiu J, Yao ST, Greenwood MP, Greenwood M, Lancaster T, Inoue W, Mecawi AS, Vechiato FM, de Lima JB, Coletti R, Hoe SZ, Martin A, Lee J, Joseph M, Hindmarch C, Paton J, Antunes-Rodrigues J, Bains J, Murphy D.
J Neurosci 35(13):5144-55. doi: 10.1523/JNEUROSCI.4121-14.2015. 2015
5BSND1, SLC12A1
Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review.
Gross I, Siedner-Weintraub Y, Simckes A, Gillis D.
J Pediatr Endocrinol Metab 28(7-8):943-6. doi: 10.1515/jpem-2014-0188. Review. 2015
6SLC12A1
Expression of three isoforms of Na-K-2Cl cotransporter (NKCC2) in the kidney and regulation by dehydration.
Itoh K, Izumi Y, Inoue T, Inoue H, Nakayama Y, Uematsu T, Fukuyama T, Yamazaki T, Yasuoka Y, Makino T, Nagaba Y, Tomita K, Kobayashi N, Kawahara K, Mukoyama M, Nonoguchi H.
Biochem Biophys Res Commun 453(3):356-61. doi: 10.1016/j.bbrc.2014.09.089. Epub 2014 Sep 27. 2014
7SLC12A1
Physiology and pathophysiology of the renal Na-K-2Cl cotransporter (NKCC2).
Castrop H, Schießl IM.
Am J Physiol Renal Physiol 307(9):F991-F1002. doi: 10.1152/ajprenal.00432.2014. Epub 2014 Sep 3. Review. 2014
8SLC12A1
Localization and vasopressin regulation of the Na⁺-K⁺-2Cl⁻ cotransporter in the distal colonic epithelium.
Xue H, Zhang ZJ, Li XS, Sun HM, Kang Q, Wu B, Wang YX, Zou WJ, Zhou DS.
World J Gastroenterol 20(16):4692-701. doi: 10.3748/wjg.v20.i16.4692. 2014
9ANXA2, SLC12A1
Annexin A2 mediates apical trafficking of renal Na⁺-K⁺-2Cl⁻ cotransporter.
Dathe C, Daigeler AL, Seifert W, Jankowski V, Mrowka R, Kalis R, Wanker E, Mutig K, Bachmann S, Paliege A.
J Biol Chem 289(14):9983-97. doi: 10.1074/jbc.M113.540948. Epub 2014 Feb 13. 2014
10SLC12A1, SLC12A2
Functional expression of human NKCC1 from a synthetic cassette-based cDNA: introduction of extracellular epitope tags and removal of cysteines.
Somasekharan S, Monette MY, Forbush B.
PLoS One 8(12):e82060. doi: 10.1371/journal.pone.0082060. eCollection 2013. 2013
11SLC12A1
NKCC2A and NFAT5 regulate renal TNF production induced by hypertonic NaCl intake.
Hao S, Bellner L, Ferreri NR.
Am J Physiol Renal Physiol 304(5):F533-42. doi: 10.1152/ajprenal.00243.2012. Epub 2012 Dec 26. 2013
12OXSR1, SLC12A1, SLC12A3, STK39
SPAK isoforms and OSR1 regulate sodium-chloride co-transporters in a nephron-specific manner.
Grimm PR, Taneja TK, Liu J, Coleman R, Chen YY, Delpire E, Wade JB, Welling PA.
J Biol Chem 287(45):37673-90. doi: 10.1074/jbc.M112.402800. Epub 2012 Sep 12. 2012
13SLC12A1, SLC12A2
Expression of the Slc12a1 gene in pancreatic β-cells: molecular characterization and in silico analysis.
Alshahrani S, Alvarez-Leefmans FJ, Di Fulvio M.
Cell Physiol Biochem 30(1):95-112. doi: 10.1159/000339050. Epub 2012 Jun 12. Erratum in: Cell Physiol Biochem. 2013;31(2-3):486. Alvarez-Leefmans, Fr 2012
14SLC12A1
Multiple evolutionarily conserved Di-leucine like motifs in the carboxyl terminus control the anterograde trafficking of NKCC2.
Zaarour N, Demaretz S, Defontaine N, Zhu Y, Laghmani K.
J Biol Chem 287(51):42642-53. doi: 10.1074/jbc.M112.399162. Epub 2012 Oct 26. 2012
15CLTC, DNM2, SLC12A1
Dynamin2, clathrin, and lipid rafts mediate endocytosis of the apical Na/K/2Cl cotransporter NKCC2 in thick ascending limbs.
Ares GR, Ortiz PA.
J Biol Chem 287(45):37824-34. doi: 10.1074/jbc.M112.386425. Epub 2012 Sep 12. 2012
16SLC12A1, SLC12A2
Identification of key residues involved in the dimerization of the secretory Na(+)-K(+)-2Cl(-) cotransporter NKCC1.
Parvin MN, Turner RJ.
Biochemistry 50(45):9857-64. doi: 10.1021/bi201498y. Epub 2011 Oct 19. 2011
17LEO1, RBBP5, SGK223, SLC12A1
Integrated genomic profiling identifies candidate genes implicated in glioma-genesis and a novel LEO1-SLC12A1 fusion gene.
Bralten LB, Kloosterhof NK, Gravendeel LA, Sacchetti A, Duijm EJ, Kros JM, van den Bent MJ, Hoogenraad CC, Sillevis Smitt PA, French PJ.
Genes Chromosomes Cancer 49(6):509-17. 2010
18MAL, SLC12A1
MAL/VIP17, a new player in the regulation of NKCC2 in the kidney.
Carmosino M, Rizzo F, Procino G, Basco D, Valenti G, Forbush B, Schaeren-Wiemers N, Caplan MJ, Svelto M.
Mol Biol Cell 21(22):3985-97. Epub 2010 Sep 22.PMID: 20861303 2010
19BSND1, SLC12A1
A highly conserved motif at the COOH terminus dictates endoplasmic reticulum exit and cell surface expression of NKCC2.
Zaarour N, Demaretz S, Defontaine N, Mordasini D, Laghmani K.
J Biol Chem 284(32):21752-64. Epub 2009 Jun 17.PMID: 19535327 2009
20BSND1, SLC12A1
In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation.
Nozu K, Iijima K, Kawai K, Nozu Y, Nishida A, Takeshima Y, Fu XJ, Hashimura Y, Kaito H, Nakanishi K, Yoshikawa N, Matsuo M.
Hum Genet 126(4):533-8. Epub 2009 Jun 10.PMID: 19513753 2009
21SLC12A1
Rare independent mutations in renal salt handling genes contribute to blood pressure variation.
Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB, Newton-Cheh C, State MW, Levy D, Lifton RP.
Nat Genet 40(5):592-9. Epub 2008 Apr 6. 2008
22STK39, WNK3, SLC12A1
Regulation of NKCC2 by a chloride-sensing mechanism involving the WNK3 and SPAK kinases.
Ponce-Coria J, San-Cristobal P, Kahle KT, Vazquez N, Pacheco-Alvarez D, de Los Heros P, Ju‡rez P, Mu–oz E, Michel G, Bobadilla NA, Gimenez I, Lifton RP, Hebert SC, Gamba G.
Proc Natl Acad Sci U S A 105(24):8458-63. Epub 2008 Jun 11. 2008
23KCNJ1, SLC12A1, SLCA3
Rare independent mutations in renal salt handling genes contribute to blood pressure variation.
Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB, Newton-Cheh C, State MW, Levy D, Lifton RP.
Nat Genet 40(5):592-9. Epub 2008 Apr 6. 2008
24BSND1, SLC12A1
Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1.
Adachi M, Asakura Y, Sato Y, Tajima T, Nakajima T, Yamamoto T, Fujieda K.
Endocr J 54(6):1003-7. Epub 2007 Nov 12.PMID: 17998760 2007
25WNK3, SLC12A1, SLC12A3
WNK3 kinase is a positive regulator of NKCC2 and NCC, renal cation-Cl- cotransporters required for normal blood pressure homeostasis.
Rinehart J, Kahle KT, de Los Heros P, Vazquez N, Meade P, Wilson FH, Hebert SC, Gimenez I, Gamba G, Lifton RP.
Proc Natl Acad Sci U S A 102(46):16777-82. Epub 2005 Nov 7. 2005
26SLC12A1, SLC12A2, SLC12A3, SLC12A4, SLC12A5, SLC12A6, SLC12A7, SLC12A8, SLC12A9
Molecular physiology of cation-coupled Cl- cotransport: the SLC12 family.
Hebert SC, Mount DB, Gamba G.
Pflugers Arch 447(5):580-93. Epub 2003 May 9. Review. 2004
27BSND1, SLC12A1
Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters.
Starremans PG, Kersten FF, Knoers NV, van den Heuvel LP, Bindels RJ.
J Am Soc Nephrol 14(6):1419-26. 2003
28CLCNKB, KCNJ1, SLC12A1, BSND3
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.
Konrad M, Vollmer M, Lemmink HH, van den Heuvel LP, Jeck N, Vargas-Poussou R, Lakings A, Ruf R, Deschenes G, Antignac C, Guay-Woodford L, Knoers NV, Seyberth HW, Feldmann D, Hildebrandt F.
J Am Soc Nephrol 11(8):1449-59. 2000
29BSND1, SLC12A1
Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.
Vargas-Poussou R, et al.
Am J Hum Genet 62 : 1332-1340. 1998
30BSND1, SLC12A1
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2CI cotransporter NKCC2.
Simon DB, et al.
Nat Genet 13 : 183-188. 1996
31BSND1, BSND2, SLC12A1
Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK.
Simon DB, et al.
Nat Genet 14 : 152-156. 1996
32SLC12A1, SLC12A2
Primary structure, functional expression and chromosomal localization of the bumetanide-sensitive NA-K-Cl cotransporter in human colon.
Payne JA, et al.
J Biol Chem 270 : 17977-17985. 1995