| 1 | CLCN5
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| CLCN5 5'UTR isoforms in human kidneys: differential expression analysis between controls and patients with glomerulonephritis
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| Ceol M, Gianesello L, Tosetto E, Priante G, Del Prete D, Anglani F
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| J Investig Med. Apr;68(4):864-869. doi: 10.1136/jim-2019-001205. Epub 2020 Feb 3 2020
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| 2 | CLCN5, NPHL2
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| Cl- and H+ coupling properties and subcellular localizations of wildtype and disease-associated variants of the voltage-gated Cl-/H+ exchanger ClC-5.
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| Chang MH, Brown MR, Liu Y, Gainullin VG, Harris PC, Romero MF, Lieske JC.
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| J Biol Chem. Feb 7;295(6):1464-1473. doi: 10.1074/jbc.RA119.011366. Epub 2019 Dec 18 2020
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| 3 | CLCN3, CLCN5, TRPV1
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| Identification of Chloride Channels CLCN3 and CLCN5 Mediating the Excitatory Cl- Currents Activated by Sphingosine-1-Phosphate in Sensory Neurons. 2018 PMID:
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| Qi Y, Mair N, Kummer KK, Leitner MG, Camprubí-Robles M, Langeslag M, Kress M.
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| Front Mol Neurosci. Feb 9;11:33. doi: 10.3389/fnmol.2018.00033. 2018
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| 4 | CLCN5, HYP2
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| Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.
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| Guven A, Al-Rijjal RA, BinEssa HA, Dogan D, Kor Y, Zou M, Kaya N, Alenezi AF, Hancili S, Tarım Ö, Baitei EY, Kattan WE, Meyer BF, Shi Y.
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| Clin Endocrinol (Oxf). Jul;87(1):103-112. doi: 10.1111/cen.13347. Epub 2017 May 11 2017
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| 5 | ATP6V0D2, CLCN5
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| Functional coupling of V-ATPase and CLC-5
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| Satoh N, Suzuki M, Nakamura M, Suzuki A, Horita S, Seki G, Moriya K.
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| World J Nephrol. Jan 6;6(1):14-20. doi: 10.5527/wjn.v6.i1.14. 2017
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| 6 | CLCN5, NPHL2
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| Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1
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| Mansour-Hendili L, Blanchard A, Le Pottier N, Roncelin I, Lourdel S, Treard C, González W, Vergara-Jaque A, Morin G, Colin E, Holder-Espinasse M, Bacchetta J, Baudouin V, Benoit S, Bérard E, Bourdat-Michel G, Bouchireb K, Burtey S, Cailliez M, Cardon G, Cartery C, Champion G, Chauveau D, Cochat P, Dahan K, De la Faille R, Debray FG, Dehoux L, Deschenes G, Desport E, Devuyst O, Dieguez S, Emma F, Fischbach M, Fouque D, Fourcade J, François H, Gilbert-Dussardier B, Hannedouche T, Houillier P, Izzedine H, Janner M, Karras A, Knebelmann B, Lavocat MP, Lemoine S, Leroy V, Loirat C, Macher MA, Martin-Coignard D, Morin D, Niaudet P, Nivet H, Nobili F, Novo R, Faivre L, Rigothier C, Roussey-Kesler G, Salomon R, Schleich A, Sellier-Leclerc AL, Soulami K, Tiple A, Ulinski T, Vanhille P, Van Regemorter N, Jeunemaître X, Vargas-Poussou R. .
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| Hum Mutat. Aug;36(8):743-52. doi: 10.1002/humu.22804. Epub 2015 Jun 11 2015
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| 7 | CLCN5
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| Chloride transporters and receptor-mediated endocytosis in the renal proximal tubule
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| Devuyst O, Luciani A.
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| J Physiol. Sep 15;593(18):4151-64. doi: 10.1113/JP270087. Epub 2015 May 11. 2015
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| 8 | CLCN5
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| Complexity of the 5'UTR region of the CLCN5 gene: eleven 5'UTR ends are differentially expressed in the human kidney.
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| Tosetto E, Casarin A, Salviati L, Familiari A, Lieske JC, Anglani F.
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| BMC Med Genomics. Jul 7;7:41. doi: 10.1186/1755-8794-7-41. 2014
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| 9 | CLCN5
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| Extracellular determinants of anion discrimination of the Cl-/H+ antiporter protein CLC-5.
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| De Stefano S, Pusch M, Zifarelli G.
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| J Biol Chem 286(51):44134-44. Epub 2011 Sep 15.
2011
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| 10 | CLCN5, KIF3B
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| CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease.
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| Reed AA, Loh NY, Terryn S, Lippiat JD, Partridge C, Galvanovskis J, Williams SE, Jouret F, Wu FT, Courtoy PJ, Nesbit MA, Rorsman P, Devuyst O, Ashcroft FM, Thakker RV.
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| Am J Physiol Renal Physiol 298(2):F365-80. Epub 2009 Nov 25.
2010
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| 11 | CFTR, CLCN5
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| Role of CFTR and ClC-5 in modulating vacuolar H+-ATPase activity in kidney proximal tubule.
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| Carraro-Lacroix LR, Lessa LM, Bezerra CN, Pessoa TD, Souza-Menezes J, Morales MM, Girardi AC, Malnic G.
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| Cell Physiol Biochem 26(4-5):563-76. Epub 2010 Oct 29.
2010
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| 12 | CLCN5, HNF1A
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| The transcription factor HNF1α regulates expression of chloride-proton exchanger ClC-5 in the renal proximal tubule.
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| Tanaka K, Terryn S, Geffers L, Garbay S, Pontoglio M, Devuyst O.
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| Am J Physiol Renal Physiol 299(6):F1339-47. Epub 2010 Sep 1.
2010
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| 13 | CLCN5, NPHL2
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| A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency.
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| Bogdanović R, Draaken M, Toromanović A, Dordević M, Stajić N, Ludwig M.
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| Pediatr Nephrol 25(11):2363-8. Epub 2010 Aug 1.
2010
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| 14 | CLCN5, NPHL1, NPHL2
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| Proton block of the CLC-5 Cl-/H+ exchanger.
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| Picollo A, Malvezzi M, Accardi A.
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| J Gen Physiol 135(6):653-9. 2010
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| 15 | CLCN5
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| Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis.
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| Novarino G, Weinert S, Rickheit G, Jentsch TJ.
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| Science 328(5984):1398-401. Epub 2010 Apr 29.
2010
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| 16 | CLCN5, TGFB1
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| ClC-5 regulates dentin development through TGF-beta1 pathway.
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| Duan X, Mao Y, Yang T, Wen X, Wang H, Hou J, Xue Y, Zhang R.
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| Arch Oral Biol 54(12):1118-24. Epub 2009 Oct 29.
2009
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| 17 | CLCN5
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| Intracellular regulation of human ClC-5 by adenine nucleotides.
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| Zifarelli G, Pusch M.
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| EMBO Rep 10(10):1111-6. Epub 2009 Aug 28.
2009
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| 18 | CLCN5, NPHL1, NPHL2
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| Growth hormone improves growth rate and preserves renal function in Dent disease.
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| Sheffer-Babila S, Chandra M, Speiser PW.
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| J Pediatr Endocrinol Metab 21(3):279-86.
2008
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| 19 | CLCN5, NPHL2
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| A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease.
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| Ramos-Trujillo E, Gonzalez-Acosta H, Flores C, Garcia-Nieto V, Guillen E, Gracia S, Vicente C, Espinosa L, Maseda MA, Santos F, Camacho JA, Claverie-Martin F.
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| J Hum Genet 52(3):255-61. Epub 2007 Jan 30. 2007
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| 20 | CLCN5, NPHL2
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| Molecular analysis of the CLCN5 gene in Dent's disease: first mutation identified in a patient from South America.
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| Ramos-Trujillo E, Garcia-Nieto V, Gonzalez-Acosta H, Vara J, Pérez-Diaz V, Nadal I, Oliveros R, Claverie-Martin F.
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| Clin Nephrol 68(6):367-72.PMID: 18184518 2007
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| 21 | CLCN5, NPHL2
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| Phenotypic and genetic heterogeneity in Dent's disease--the results of an Italian collaborative study.
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| Tosetto E, Ghiggeri GM, Emma F, Barbano G, Carrea A, Vezzoli G, Torregrossa R, Cara M, Ripanti G, Ammenti A, Peruzzi L, Murer L, Ratsch IM, Citron L, Gambaro G, D'angelo A, Anglani F.
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| Nephrol Dial Transplant 21(9):2452-63. Epub 2006 Jul 5. 2006
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| 22 | NPHL2, CLCN5
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| Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization.
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| Ludwig M, Doroszewicz J, Seyberth HW, Bokenkamp A, Balluch B, Nuutinen M, Utsch B, Waldegger S.
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| Hum Genet 117(2-3):228-37. Epub 2005 May 14. 2005
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| 23 | CLCN4, CLCN5
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| Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5.
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| Picollo A, Pusch M.
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| Nature 436(7049):420-3. 2005
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| 24 | CLCN4, CLCN5, CLCN7
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| Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins.
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| Scheel O, Zdebik AA, Lourdel S, Jentsch TJ.
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| Nature 436(7049):424-7. 2005
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| 25 | CLCN5, NPHL2
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| The Alu insertion in the CLCN5 gene of a patient with Dent's disease leads to exon 11 skipping.
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| Claverie-Martin F, Flores C, Anton-Gamero M, Gonzalez-Acosta H, Garcia-Nieto V.
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| J Hum Genet 50(7):370-4. Epub 2005 Jul 23. 2005
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| 26 | CLCN5
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| Identification of a novel splice site mutation of CLCN5 gene and characterization of a new alternative 5' UTR end of ClC-5 mRNA in human renal tissue and leukocytes.
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| Forino M, Graziotto R, Tosetto E, Gambaro G, D'Angelo A, Anglani F.
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| J Hum Genet 49(1):53-60. Epub 2003 Dec 13. 2004
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| 27 | CLCN5
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| Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules.
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| Christensen EI, Devuyst O, Dom G, Nielsen R, Van der Smissen P, Verroust P, Leruth M, Guggino WB, Courtoy PJ.
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| Proc Natl Acad Sci U S A 100(14):8472-7. Epub 2003 Jun 18. 2003
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| 28 | CLCN5, NPHL2
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| De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease.
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| Claverie-Martin F, Gonzalez-Acosta H, Flores C, Anton-Gamero M, Garcia-Nieto V.
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| Hum Genet 113(6):480-5. Epub 2003 Aug 29. 2003
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| 29 | CLCN4, CLCN5
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| The chloride channel ClC-4 contributes to endosomal acidification and trafficking.
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| Mohammad-Panah R, Harrison R, Dhani S, Ackerley C, Huan LJ, Wang Y, Bear CE.
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| J Biol Chem 278(31):29267-77. Epub 2003 May 13. 2003
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| 30 | CLCN5
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| A role for CBS domain 2 in trafficking of chloride channel CLC-5.
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| Carr G, Simmons N, Sayer J.
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| Biochem Biophys Res Commun 310(2):600-5. 2003
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| 31 | CLCN5
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| An internalization signal in ClC-5, an endosomal Cl-channel mutated in dent's disease.
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| Schwake M, Friedrich T, Jentsch TJ.
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| J Biol Chem 276(15):12049-54. 2001
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| 32 | CLCN5, NPHL2
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| CIC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent's disease.
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| Piwon N, Gunther W, Schwake M, Bosl MR, Jentsch TJ.
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| Nature 408(6810):369-73. 2000
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| 33 | CLCN5
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| Isolation and characterization of the human CLC-5 chloride channel gene promoter.
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| Hayama A, Uchida S, Sasaki S, Marumo F.
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| Gene 261(2):355-64. 2000
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| 34 | CLCN5, NPHL2
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| Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease.
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| Devuyst O, et al.
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| Hum Mol Genet 8 : 247-257. 1999
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| 35 | CLCN5, FILWP
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| Chloride channel CLCN5 mutations in Japanese children with familial idiopathic low molecular weight proteinuria.
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| Nakazato H, et al.
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| Kidney Int 55 : 63-70. 1999
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| 36 | CLCN5, NPHL2
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| Renal chloride channel, CLCN5, mutations in Dent's disease.
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| Cox JP, Yamamoto K, Christie PT, Wooding C, Feest T, Flinter FA, Goodyer PR, Leumann E, Neuhaus T, Reid C, Williams PF, Wrong O, Thakker RV.
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| J Bone Miner Res 14(9):1536-42 1999
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| 37 | CLCN5, NPHL1
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| CLCN5 mutation Ser244Leu is associated with X-linked renal failure without X-linked recessive hypophosphatemic rickets.
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| Kelleher CL, Buckalew VM, Frederickson ED, Rhodes DJ, Conner DA, Seidman JG, Seidman CE.
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| Kidney Int 53(1):31-7. 1998
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| 38 | CLCN5, NPHL1
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| CLCN5 chloride-channel mutations in six new North American families with X-linked nephrolithiasis.
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| Hoopes RR Jr, Hueber PA, Reid RJ Jr, Braden GL, Goodyer PR, Melnyk AR, Midgley JP, Moel DI, Neu AM, VanWhy SK, Scheinman SJ.
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| Kidney Int 54(3):698-705. 1998
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| 39 | CLCN5, NPHL2
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| Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease.
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| Igarashi T, et al.
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| Kidney Int 54 : 1850-1856. 1998
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| 40 | CLCN5, NPHL2
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| A second family with XLRH displays the mutation S244L in the CLCN5 gene.
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| Oudet C, Martin-Coignard D, Pannetier S, Praud E, Champion G, Hanauer A.
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| Hum Genet 99(6):781-4. 1997
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| 41 | CLCN5, NPHL2, NPHL1
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| Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.
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| Lloyd SE, Gunther W, Pearce SH, Thomson A, Bianchi ML, Bosio M, Craig IW, Fisher SE, Scheinman SJ, Wrong O, Jentsch TJ, Thakker RV.
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| Hum Mol Genet 6(8):1233-9. 1997
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| 42 | CLCN5, NPHL2
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| Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis.
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| Akuta N, Lloyd SE, Igarashi T, Shiraga H, Matsuyama T, Yokoro S, Cox JP, Thakker RV.
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| Kidney Int 52(4):911-6. 1997
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| 43 | CLCN5, NPHL1
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| Mutations in the CLCN5 gene in Japanese patients with familial idiopathic low-molecular-weight proteinuria.
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| Nakazato H, Hattori S, Furuse A, Kawano T, Karashima S, Tsuruta M, Yoshimuta J, Endo F, Matsuda I.
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| Kidney Int 52(4):895-900. 1997
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| 44 | CLCN5, HYP2
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| A second family with XLRH displays the mutation S244L in the CLCN5 gene.
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| Oudet C, Martin-Coignard D, Pannetier S, Praud E, Champion G, Hanauer A.
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| Hum Genet 99(6):781-4.
1997
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| 45 | CLCN5, NPHL2, NPHL1
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| A common molecular basis for three inherited kidney stone diseases.
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| Lloyd SE, et al.
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| Nature 379 : 445-449. 1996
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| 46 | CLCN5, NPHL1
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| Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis).
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| Fisher SE, van Bakel I, Lloyd SE, Pearce SH, Thakker RV, Craig IW.
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| Genomics 29(3):598-606. 1995
|