| 1 | 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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| 2 | 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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| 3 | 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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| 4 | 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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| 5 | 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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| 6 | 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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| 7 | 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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| 8 | 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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| 9 | 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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| 10 | 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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| 11 | 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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| 12 | 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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| 13 | 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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| 14 | 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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| 15 | 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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| 16 | 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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| 17 | 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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| 18 | 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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| 19 | 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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| 20 | CLCN3, NPHL2
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| Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis).
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| Fisher SE, et al.
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| Hum Mol Genet 3 : 2053-2059. 1994
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| 21 | NPHL2, NPHL1
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| Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance.
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| Wrong OM, et al.
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| Q J Med 87 : 473-493. 1994
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| 22 | NPHL2
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| Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.
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| Pook MA, et al.
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| Hum Mol Genet 2 : 2129-2134. 1993
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| 23 | HYP2, NPHL2
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| Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets.
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| Bolino A, Devoto M, Enia G, Zoccali C, Weissenbach J, Romeo G.
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| Eur J Hum Genet 1(4):269-79. 1993
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