| 1 | CADDLS, CLCN7
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| Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
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| Nicoli ER, Weston MR, Hackbarth M, Becerril A, Larson A, Zein WM, Baker PR 2nd, Burke JD, Dorward H, Davids M, Huang Y, Adams DR, Zerfas PM, Chen D, Markello TC, Toro C, Wood T, Elliott G, Vu M; Undiagnosed Diseases Network, Zheng W, Garrett LJ, Tifft CJ, Gahl WA, Day-Salvatore DL, Mindell JA, Malicdan MCV.
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| Am J Hum Genet 104(6):1127-1138. doi: 10.1016/j.ajhg.2019.04.008. Epub 2019 May 30.
2019
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| 2 | CLCN7, OPTA2
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| Novel CLCN7 mutations cause autosomal dominant osteopetrosis type II and intermediate autosomal recessive osteopetrosis.
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| Li L, Lv SS, Wang C, Yue H, Zhang ZL.
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| Mol Med Rep 19(6):5030-5038. doi: 10.3892/mmr.2019.10123. Epub 2019 Apr 3.
2019
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| 3 | CLCN7
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| ClC-7 Regulates the Pattern and Early Development of Craniofacial Bone and Tooth.
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| Zhang Y, Ji D, Li L, Yang S, Zhang H, Duan X.
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| Theranostics 9(5):1387-1400. doi: 10.7150/thno.29761. eCollection 2019.
2019
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| 4 | CLCN7, OPTB4
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| Whole exome sequencing identified two novel homozygous missense variants in the same codon of CLCN7 underlying autosomal recessive infantile malignant osteopetrosis in a Pakistani family.
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| Khan MA, Ullah A, Naeem M.
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| Mol Biol Rep 45(4):565-570. doi: 10.1007/s11033-018-4194-8. Epub 2018 Jun 20.
2018
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| 5 | CLCN7, NHE6
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| The murine choroid plexus epithelium expresses the 2Cl-/H+ exchanger ClC-7 and Na+/H+ exchanger NHE6 in the luminal membrane domain.
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| Damkier HH, Christensen HL, Christensen IB, Wu Q, Fenton RA, Praetorius J.
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| Am J Physiol Cell Physiol 314(4):C439-C448. doi: 10.1152/ajpcell.00145.2017. Epub 2017 Dec 20.
2018
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| 6 | CLCN7, OPTA2, OPTB4
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| Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.
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| Piret SE, Gorvin CM, Trinh A, Taylor J, Lise S, Taylor JC, Ebeling PR, Thakker RV.
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| Am J Med Genet A 170(11):2988-2992. doi: 10.1002/ajmg.a.37755. Epub 2016 Aug 19.
2016
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| 7 | CLCN7
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| ClC-7 Deficiency Impairs Tooth Development and Eruption.
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| Wang H, Pan M, Ni J, Zhang Y, Zhang Y, Gao S, Liu J, Wang Z, Zhang R, He H, Wu B, Duan X.
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| Sci Rep 6:19971. doi: 10.1038/srep19971.
2016
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| 8 | CLCN7
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| Null mutation of chloride channel 7 (Clcn7) impairs dental root formation but does not affect enamel mineralization.
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| Guo J, Bervoets TJ, Henriksen K, Everts V, Bronckers AL.
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| Cell Tissue Res 363(2):361-70. doi: 10.1007/s00441-015-2263-z. Epub 2015 Sep 8.
2016
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| 9 | CLCN7, OPTA2, OPTB1, OPTB4, TCIRG1
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| CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals.
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| Barvencik F, Kurth I, Koehne T, Stauber T, Zustin J, Tsiakas K, Ludwig CF, Beil FT, Pestka JM, Hahn M, Santer R, Supanchart C, Kornak U, Del Fattore A, Jentsch TJ, Teti A, Schulz A, Schinke T, Amling M.
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| J Bone Miner Res 29(4):982-91. doi: 10.1002/jbmr.2100.
2014
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| 10 | CLCN7
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| ClC-7 expression levels critically regulate bone turnover, but not gastric acid secretion.
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| Supanchart C, Wartosch L, Schlack C, Kühnisch J, Felsenberg D, Fuhrmann JC, de Vernejoul MC, Jentsch TJ, Kornak U.
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| Bone 58:92-102. doi: 10.1016/j.bone.2013.09.022. Epub 2013 Oct 5.
2014
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| 11 | CLCN7, OPTA2, OPTB4
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| The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families.
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| Wang C, Zhang H, He JW, Gu JM, Hu WW, Hu YQ, Li M, Liu YJ, Fu WZ, Yue H, Ke YH, Zhang ZL.
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| J Bone Miner Metab 30(3):338-48. doi: 10.1007/s00774-011-0319-z. Epub 2011 Sep 28.
2012
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| 12 | CLCN7, OSTM1
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| ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity.
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| Leisle L, Ludwig CF, Wagner FA, Jentsch TJ, Stauber T.
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| EMBO J 30(11):2140-52. Epub 2011 Apr 28.
2011
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| 13 | CLCN7, OSTM1
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| Degradation of Alzheimer's amyloid fibrils by microglia requires delivery of ClC-7 to lysosomes.
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| Majumdar A, Capetillo-Zarate E, Cruz D, Gouras GK, Maxfield FR.
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| Mol Biol Cell 22(10):1664-76. Epub 2011 Mar 25.
2011
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| 14 | CLCN7, OPTA2
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| The G215R mutation in the Cl-/H+-antiporter ClC-7 found in ADO II osteopetrosis does not abolish function but causes a severe trafficking defect.
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| Schulz P, Werner J, Stauber T, Henriksen K, Fendler K.
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| PLoS One 5(9):e12585.
2010
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| 15 | CLCN7
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| Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation.
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| Weinert S, Jabs S, Supanchart C, Schweizer M, Gimber N, Richter M, Rademann J, Stauber T, Kornak U, Jentsch TJ.
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| Science 328(5984):1401-3.
2010
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| 16 | CLCN7, OPTA2, OPTB4
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| Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.
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| Pangrazio A, Pusch M, Caldana E, Frattini A, Lanino E, Tamhankar PM, Phadke S, Lopez AG, Orchard P, Mihci E, Abinun M, Wright M, Vettenranta K, Bariae I, Melis D, Tezcan I, Baumann C, Locatelli F, Zecca M, Horwitz E, Mansour LS, Van Roij M, Vezzoni P, Villa A, Sobacchi C.
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| Hum Mutat 31(1):E1071-80.
2010
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| 17 | CLCN6, CLCN7
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| The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression.
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| Neagoe I, Stauber T, Fidzinski P, Bergsdorf EY, Jentsch TJ.
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| J Biol Chem. Jul 9;285(28):21689-97. doi: 10.1074/jbc.M110.125971. Epub 2010 May 13 2010
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| 18 | CLCN7, OPTA2
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| The -9247 T/C polymorphism in the SOST upstream regulatory region that potentially affects C/EBPalpha and FOXA1 binding is associated with osteoporosis.
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| Huang QY, Li GH, Kung AW.
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| Bone 45(2):289-94. Epub 2009 Apr 14.
2009
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| 19 | CLCN7, OPTB4, OPTB5, OSTM1
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| A single-center experience in 20 patients with infantile malignant osteopetrosis.
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| Mazzolari E, Forino C, Razza A, Porta F, Villa A, Notarangelo LD.
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| Am J Hematol 84(8):473-9.
2009
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| 20 | CLCN7, OSTM1
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| Lysosomal degradation of endocytosed proteins depends on the chloride transport protein ClC-7.
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| Wartosch L, Fuhrmann JC, Schweizer M, Stauber T, Jentsch TJ.
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| FASEB J 23(12):4056-68. Epub 2009 Aug 6.
2009
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| 21 | CLCN7
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| The Cl-/H+ antiporter ClC-7 is the primary chloride permeation pathway in lysosomes.
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| Graves AR, Curran PK, Smith CL, Mindell JA.
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| Nature 453(7196):788-92. Epub 2008 Apr 30.
2008
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| 22 | CLCN7, MITF, OSTM1
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| The expression of Clcn7 and Ostm1 in osteoclasts is coregulated by microphthalmia transcription factor.
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| Meadows NA, Sharma SM, Faulkner GJ, Ostrowski MC, Hume DA, Cassady AI.
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| J Biol Chem 282(3):1891-904. Epub 2006 Nov 14.
2007
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| 23 | OSTM1, CLCN7
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| ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function.
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| Lange PF, Wartosch L, Jentsch TJ, Fuhrmann JC.
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| Nature 440(7081):220-3. 2006
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| 24 | OPTA2, CLCN7
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| Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment.
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| Del Fattore A, Peruzzi B, Rucci N, Recchia I, Cappariello A, Longo M, Fortunati D, Ballanti P, Iacobini M, Luciani M, Devito R, Pinto R, Caniglia M, Lanino E, Messina C, Cesaro S, Letizia C, Bianchini G, Fryssira H, Grabowski P, Shaw N, Bishop N, Hughes D, Kapur RP, Datta HK, Taranta A, Fornari R, Migliaccio S, Teti A.
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| J Med Genet 43(4):315-25. Epub 2005 Aug 23. 2006
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| 25 | CLCN7
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| Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II.
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| Kornak U, Ostertag A, Branger S, Benichou O, de Vernejoul MC.
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| J Clin Endocrinol Metab 91(3):995-1000. Epub 2005 Dec 20. 2006
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| 26 | OPTA2, CLCN7
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| Disease status in autosomal dominant osteopetrosis type 2 is determined by osteoclastic properties.
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| Chu K, Snyder R, Econs MJ.
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| J Bone Miner Res 21(7):1089-97. 2006
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| 27 | 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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| 28 | CLCN7
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| Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration.
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| Kasper D, Planells-Cases R, Fuhrmann JC, Scheel O, Zeitz O, Ruether K, Schmitt A, Poet M, Steinfeld R, Schweizer M, Kornak U, Jentsch TJ.
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| EMBO J 24(5):1079-91. Epub 2005 Feb 10. 2005
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| 29 | CLCN7, OPTA2
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| Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis
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| Campos-Xavier AB, Saraiva JM, Ribeiro LM, Munnich A, Cormier-Daire V.
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| Hum Genet 112(2):186-9. 2003
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| 30 | CLCN7, OPTB4
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| Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II.
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| Waguespack SG, Koller DL, White KE, Fishburn T, Carn G, Buckwalter KA, Johnson M, Kocisko M, Evans WE, Foroud T, Econs MJ.
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| J Bone Miner Res 18(8):1513-8. 2003
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| 31 | CLCN7, OPTB1
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| Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.
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| Frattini A, Pangrazio A, Susani L, Sobacchi C, Mirolo M, Abinun M, Andolina M, Flanagan A, Horwitz EM, Mihci E, Notarangelo LD, Ramenghi U, Teti A, Van Hove J, Vujic D, Young T, Albertini A, Orchard PJ, Vezzoni P, Villa A.
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| J Bone Miner Res 18(10):1740-7. 2003
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| 32 | CLCN7, OPTA2
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| Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man.
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| Kornak U, Kasper D, Bosl MR, Kaiser E, Schweizer M, Schulz A, Friedrich W, Delling G, Jentsch TJ.
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| Cell 104(2):205-15. 2001
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| 33 | CLCN7, OPTA2
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| Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.
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| Cleiren E, Benichou O, Van Hul E, Gram J, Bollerslev J, Singer FR, Beaverson K, Aledo A, Whyte MP, Yoneyama T, deVernejoul MC, Van Hul W.
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| Hum Mol Genet 10(25):2861-7. 2001
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| 34 | CLCN6, CLCN7
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| Complete genomic structure of the CLCN6 and CLCN7 putative chloride channel genes(1).
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| Kornak U, Bosl MR, Kubisch C.
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| Biochim Biophys Acta 1447(1):100-6 1999
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| 35 | CLCN6, CLCN7, CLCN8, CLIC1, HTR3B, KCNAB1, KCNB1, KCNJ1, KCNJ2, KCNJ3, KCNJ5, KCNMA1
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| Chromosomal localization of 15 ion channel genes.
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| Russell MWW, et al.
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| Somat Cell Mol Genet 22 : 425-431. 1996
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| 36 | CLCN6, CLCN7
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| CIC-6 and CIC-7 are two novel broadly expressed members of the CLC chloride channel family.
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| Brandt S, et al.
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| FEBS Lett 377 : 15-20. 1995
|