ClCK2

1

Lopez HU et al. Whole-Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death.
Pediatr. Dev. Pathol., 2015 Jul-Aug , 18 (324-6).

2

Cutz E Whole Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death.
Pediatr. Dev. Pathol., 2015 Jul-Aug , 18 (339-40).

3

Andrini O et al. ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.
Am. J. Physiol. Renal Physiol., 2015 Jun 15 , 308 (F1324-34).

4

Stölting G et al. Carboxyl-terminal Truncations of ClC-Kb Abolish Channel Activation by Barttin Via Modified Common Gating and Trafficking.
J. Biol. Chem., 2015 Dec 18 , 290 (30406-16).

5

Andrini O et al. CLCNKB mutations causing mild Bartter syndrome profoundly alter the pH and Ca2+ dependence of ClC-Kb channels.
Pflugers Arch., 2014 Sep , 466 (1713-23).

6

Tavira B et al. A labor- and cost-effective non-optical semiconductor (Ion Torrent) next-generation sequencing of the SLC12A3 and CLCNKA/B genes in Gitelman's syndrome patients.
J. Hum. Genet., 2014 Jul , 59 (376-80).

7

Chiang WF et al. Hypokalemic paralysis in a middle-aged female with classic Bartter syndrome.
Clin. Nephrol., 2014 Feb , 81 (146-50).

8

Keck M et al. Novel CLCNKB mutations causing Bartter syndrome affect channel surface expression.
Hum. Mutat., 2013 Sep , 34 (1269-78).

9

Cho HY et al. Translational read-through of a nonsense mutation causing Bartter syndrome.
J. Korean Med. Sci., 2013 Jun , 28 (821-6).

10

García Castaño A et al. Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm.
PLoS ONE, 2013 , 8 (e74673).

11

Cruz AJ et al. Gitelman or Bartter type 3 syndrome? A case of distal convoluted tubulopathy caused by CLCNKB gene mutation.
BMJ Case Rep, 2013 , 2013 ().

12

Westland R et al. Bartter syndrome type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation.
Clin. Nephrol., 2012 Dec , 78 (492-6).

13

Lee BH et al. Genetic basis of Bartter syndrome in Korea.
Nephrol. Dial. Transplant., 2012 Apr , 27 (1516-21).

14

Su X et al. Association of CLCNKB haplotypes and hypertension in Mongolian and Han populations.
Clin. Exp. Hypertens., 2012 , 34 (482-7).

15

Robitaille P et al. Bartter syndrome in two sisters with a novel mutation of the CLCNKB gene, one with deafness.
Eur. J. Pediatr., 2011 Sep , 170 (1209-11).

16

Iqbal H et al. Identification of missense mutation (I12T) in the BSND gene and bioinformatics analysis.
J. Biomed. Biotechnol., 2011 , 2011 (304612).

17

Urbanová M et al. DNA analysis of renal electrolyte transporter genes among patients suffering from Bartter and Gitelman syndromes: summary of mutation screening.
Folia Biol. (Praha), 2011 , 57 (65-73).

18

Dong Y et al. A novel splicing mutation in CLCNKB in a Chinese patient with Bartter syndrome type III.
Chin. Med. J., 2010 Nov , 123 (3151-3).

19

Yu Y et al. Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome.
Clin. Genet., 2010 Feb , 77 (155-62).

20

Enríquez R et al. Gitelman syndrome due to p.A204T mutation in CLCNKB gene.
Int Urol Nephrol, 2010 Dec , 42 (1099-102).

21

Lin CM et al. Chronic renal failure in a boy with classic Bartter's syndrome due to a novel mutation in CLCNKB coding for the chloride channel.
Eur. J. Pediatr., 2009 Sep , 168 (1129-33).

22

Brochard K et al. Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.
Nephrol. Dial. Transplant., 2009 May , 24 (1455-64).

23

Jung J et al. Allelic-based gene-gene interaction associated with quantitative traits.
Genet. Epidemiol., 2009 May , 33 (332-43).

24

Sile S et al. CLCNKB-T481S and essential hypertension in a Ghanaian population.
J. Hypertens., 2009 Feb , 27 (298-304).

25

Qin L et al. Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome.
, 2009 Feb , 14 (52-8).

26

Nozu K et al. Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness.
J. Med. Genet., 2008 Mar , 45 (182-6).

27

Krämer BK et al. Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance.
, 2008 Jan , 4 (38-46).

28

Wang XF et al. Association study of variants in two ion-channel genes (TSC and CLCNKB) and hypertension in two ethnic groups in Northwest China.
Clin. Chim. Acta, 2008 Feb , 388 (95-8).

29

Sile S et al. Haplotype diversity in four genes (CLCNKA, CLCNKB, BSND, NEDD4L) involved in renal salt reabsorption.
Hum. Hered., 2008 , 65 (33-46).

30

Nozu K et al. Molecular analysis of patients with type III Bartter syndrome: picking up large heterozygous deletions with semiquantitative PCR.
Pediatr. Res., 2007 Sep , 62 (364-9).

31

Lang F et al. Functional significance of channels and transporters expressed in the inner ear and kidney.
Am. J. Physiol., Cell Physiol., 2007 Oct , 293 (C1187-208).

32

Sile S et al. Functional BSND variants in essential hypertension.
Am. J. Hypertens., 2007 Nov , 20 (1176-1182).

33

Barlassina C et al. Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension.
Hum. Mol. Genet., 2007 Jul 1 , 16 (1630-8).

34

Bettinelli A et al. Patients with biallelic mutations in the chloride channel gene CLCNKB: long-term management and outcome.
Am. J. Kidney Dis., 2007 Jan , 49 (91-8).

35

Tajima T et al. Molecular analysis of the CLCNKB gene in Japanese patients with classic Bartter syndrome.
Endocr. J., 2006 Oct , 53 (647-52).

36

Bichet DG Hereditary polyuric disorders: new concepts and differential diagnosis.
Semin. Nephrol., 2006 May , 26 (224-33).

37

Gorgojo JJ et al. A Spanish founder mutation in the chloride channel gene, CLCNKB, as a cause of atypical Bartter syndrome in adult age.
Horm. Res., 2006 , 65 (62-8).

38

Chen YT et al. Messenger RNA expression ratios among four genes predict subtypes of renal cell carcinoma and distinguish oncocytoma from carcinoma.
Clin. Cancer Res., 2005 Sep 15 , 11 (6558-66).

39

Lin SH et al. Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome.
J. Clin. Endocrinol. Metab., 2005 May , 90 (2500-7).

40

Yamauchi K et al. Apical localization of renal K channel was not altered in mutant WNK4 transgenic mice.
Biochem. Biophys. Res. Commun., 2005 Jul 8 , 332 (750-5).

41

Rodríguez-Soriano J et al. A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain.
Pediatr. Nephrol., 2005 Jul , 20 (891-6).

42

Kokubo Y et al. Association analysis between hypertension and CYBA, CLCNKB, and KCNMB1 functional polymorphisms in the Japanese population--the Suita Study.
Circ. J., 2005 Feb , 69 (138-42).

43

Bettinelli A et al. Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome.
Pediatr. Res., 2005 Dec , 58 (1269-73).

44

Speirs HJ et al. No association with hypertension of CLCNKB and TNFRSF1B polymorphisms at a hypertension locus on chromosome 1p36.
J. Hypertens., 2005 Aug , 23 (1491-6).

45

Behr R et al. Mild nephrogenic diabetes insipidus caused by Foxa1 deficiency.
J. Biol. Chem., 2004 Oct 1 , 279 (41936-41).

46

Jeck N et al. A common sequence variation of the CLCNKB gene strongly activates ClC-Kb chloride channel activity.
Kidney Int., 2004 Jan , 65 (190-7).

47

Lin SH et al. Intrafamilial phenotype variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium/chloride cotransporter.
Am. J. Kidney Dis., 2004 Feb , 43 (304-12).

48

Langman CB The molecular basis of kidney stones.
Curr. Opin. Pediatr., 2004 Apr , 16 (188-93).

49

Sardani Y et al. Bartter syndrome complicated by immune complex nephropathy. Case report and literature review.
Pediatr. Nephrol., 2003 Sep , 18 (913-8).

50

Zelikovic I et al. A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes.
Kidney Int., 2003 Jan , 63 (24-32).

51

Kobayashi K et al. Intrarenal and cellular localization of CLC-K2 protein in the mouse kidney.
J. Am. Soc. Nephrol., 2001 Jul , 12 (1327-34).

52

Shaer AJ Inherited primary renal tubular hypokalemic alkalosis: a review of Gitelman and Bartter syndromes.
Am. J. Med. Sci., 2001 Dec , 322 (316-32).

53

Thakker RV Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome.
Exp. Nephrol., 2000 Nov-Dec , 8 (351-60).

54

Jeck N et al. Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype.
Pediatr. Res., 2000 Dec , 48 (754-8).

55

Konrad M et al. Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.
J. Am. Soc. Nephrol., 2000 Aug , 11 (1449-59).

56

Vantyghem MC et al. [Bartter's syndromes]
Ann. Endocrinol. (Paris), 1999 Dec , 60 (465-72).

57

Károlyi L et al. The molecular genetic approach to "Bartter's syndrome".
J. Mol. Med., 1998 Apr , 76 (317-25).

58

Simon DB et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III.
Nat. Genet., 1997 Oct , 17 (171-8).

59

Saito-Ohara F et al. Assignment of the genes encoding the human chloride channels, CLCNKA and CLCNKB, to 1p36 and of CLCN3 to 4q32-q33 by in situ hybridization.
Genomics, 1996 Sep 1 , 36 (372-4).

60

Adachi S et al. Two isoforms of a chloride channel predominantly expressed in thick ascending limb of Henle's loop and collecting ducts of rat kidney.
J. Biol. Chem., 1994 Jul 1 , 269 (17677-83).