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Items: 1 to 20 of 36

1.

The K-Cl cotransporter KCC3 as an independent prognostic factor in human esophageal squamous cell carcinoma.

Shiozaki A, Takemoto K, Ichikawa D, Fujiwara H, Konishi H, Kosuga T, Komatsu S, Okamoto K, Kishimoto M, Marunaka Y, Otsuji E.

Biomed Res Int. 2014;2014:936401. doi: 10.1155/2014/936401. Epub 2014 Jul 9.

2.

A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity?

Degerliyurt A, Akgumus G, Caglar C, Bilguvar K, Caglayan AO.

Genet Couns. 2013;24(3):283-9.

PMID:
24341143
3.

N-terminal serine dephosphorylation is required for KCC3 cotransporter full activation by cell swelling.

Melo Z, de los Heros P, Cruz-Rangel S, Vázquez N, Bobadilla NA, Pasantes-Morales H, Alessi DR, Mercado A, Gamba G.

J Biol Chem. 2013 Nov 1;288(44):31468-76. doi: 10.1074/jbc.M113.475574. Epub 2013 Sep 16.

4.

Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum.

Salin-Cantegrel A, Rivière JB, Shekarabi M, Rasheed S, Dacal S, Laganière J, Gaudet R, Rochefort D, Lesca G, Gaspar C, Dion PA, Lapointe JY, Rouleau GA.

J Biol Chem. 2011 Aug 12;286(32):28456-65. doi: 10.1074/jbc.M111.226894. Epub 2011 May 31.

5.

Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum.

Dupré N, Howard HC, Rouleau GA.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2006 Feb 2 [updated 2014 Jun 12].

6.

Andermann syndrome can be a phenocopy of hereditary motor and sensory neuropathy--report of a discordant sibship with a compound heterozygous mutation of the KCC3 gene.

Rudnik-Schöneborn S, Hehr U, von Kalle T, Bornemann A, Winkler J, Zerres K.

Neuropediatrics. 2009 Jun;40(3):129-33. doi: 10.1055/s-0029-1234084. Epub 2009 Dec 17.

PMID:
20020398
7.

Functional analysis of a potassium-chloride co-transporter 3 (SLC12A6) promoter polymorphism leading to an additional DNA methylation site.

Moser D, Ekawardhani S, Kumsta R, Palmason H, Bock C, Athanassiadou Z, Lesch KP, Meyer J.

Neuropsychopharmacology. 2009 Jan;34(2):458-67. doi: 10.1038/npp.2008.77. Epub 2008 Jun 4.

8.

Distal truncation of KCC3 in non-French Canadian HMSN/ACC families.

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.

Neurology. 2007 Sep 25;69(13):1350-5.

PMID:
17893295
9.

Rare variants of the gene encoding the potassium chloride co-transporter 3 are associated with bipolar disorder.

Meyer J, Johannssen K, Freitag CM, Schraut K, Teuber I, Hahner A, Mainhardt C, Mössner R, Volz HP, Wienker TF, McKeane D, Stephan DA, Rouleau G, Reif A, Lesch KP.

Int J Neuropsychopharmacol. 2005 Dec;8(4):495-504. Epub 2005 Aug 5.

PMID:
16098236
10.

Molecular cloning and functional characterization of KCC3, a new K-Cl cotransporter.

Race JE, Makhlouf FN, Logue PJ, Wilson FH, Dunham PB, Holtzman EJ.

Am J Physiol. 1999 Dec;277(6 Pt 1):C1210-9.

11.

Cloning, characterization, and chromosomal location of a novel human K+-Cl- cotransporter.

Hiki K, D'Andrea RJ, Furze J, Crawford J, Woollatt E, Sutherland GR, Vadas MA, Gamble JR.

J Biol Chem. 1999 Apr 9;274(15):10661-7.

12.

SPAK mediates KCC3-enhanced cervical cancer tumorigenesis.

Chiu MH, Liu HS, Wu YH, Shen MR, Chou CY.

FEBS J. 2014 May;281(10):2353-65. doi: 10.1111/febs.12787. Epub 2014 Apr 7.

13.

Sites of regulated phosphorylation that control K-Cl cotransporter activity.

Rinehart J, Maksimova YD, Tanis JE, Stone KL, Hodson CA, Zhang J, Risinger M, Pan W, Wu D, Colangelo CM, Forbush B, Joiner CH, Gulcicek EE, Gallagher PG, Lifton RP.

Cell. 2009 Aug 7;138(3):525-36. doi: 10.1016/j.cell.2009.05.031.

14.

Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome.

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.

Neurology. 2006 Apr 11;66(7):1044-8. Erratum in: Neurology. 2006 Oct 24;67(8):1528.

PMID:
16606917
15.

NH2-terminal heterogeneity in the KCC3 K+-Cl- cotransporter.

Mercado A, Vázquez N, Song L, Cortés R, Enck AH, Welch R, Delpire E, Gamba G, Mount DB.

Am J Physiol Renal Physiol. 2005 Dec;289(6):F1246-61. Epub 2005 Jul 26.

16.

The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.

Howard HC, Mount DB, Rochefort D, Byun N, Dupré N, Lu J, Fan X, Song L, Rivière JB, Prévost 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.

Nat Genet. 2002 Nov;32(3):384-92. Epub 2002 Oct 7. Erratum in: Nat Genet 2002 Dec;32(4):681.

PMID:
12368912
17.

KCl cotransporter-3 down-regulates E-cadherin/beta-catenin complex to promote epithelial-mesenchymal transition.

Hsu YM, Chen YF, Chou CY, Tang MJ, Chen JH, Wilkins RJ, Ellory JC, Shen MR.

Cancer Res. 2007 Nov 15;67(22):11064-73.

18.

IGF-1 upregulates electroneutral K-Cl cotransporter KCC3 and KCC4 which are differentially required for breast cancer cell proliferation and invasiveness.

Hsu YM, Chou CY, Chen HH, Lee WY, Chen YF, Lin PW, Alper SL, Ellory JC, Shen MR.

J Cell Physiol. 2007 Mar;210(3):626-36.

PMID:
17133354
19.

Insulin-like growth factor 1 stimulates KCl cotransport, which is necessary for invasion and proliferation of cervical cancer and ovarian cancer cells.

Shen MR, Lin AC, Hsu YM, Chang TJ, Tang MJ, Alper SL, Ellory JC, Chou CY.

J Biol Chem. 2004 Sep 17;279(38):40017-25. Epub 2004 Jul 19.

20.

HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.

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.

Hum Mol Genet. 2008 Sep 1;17(17):2703-11. doi: 10.1093/hmg/ddn172. Epub 2008 Jun 19.

PMID:
18566107

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