| 1 | 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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| 2 | 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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| 3 | 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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| 4 | 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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| 5 | 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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| 6 | 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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| 7 | 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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| 8 | 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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| 9 | 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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| 10 | OPTA2, OPTB1, OSTM1
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| Severe malignant osteopetrosis caused by a GL gene mutation.
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| Quarello P, Forni M, Barberis L, Defilippi C, Campagnoli MF, Silvestro L, Frattini A, Chalhoub N, Vacher J, Ramenghi U.
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| J Bone Miner Res 19(7):1194-9. Epub 2004 Apr 12. 2004
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| 11 | 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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| 12 | 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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| 13 | OPTA2
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| Mapping of autosomal dominant osteopetrosis type II (Albers-Schonberg disease) to chromosome 16p13.3.
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| Benichou O, Cleiren E, Gram J, Bollerslev J, de Vernejoul MC, Van Hul W.
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| Am J Hum Genet 69(3):647-54. 2001
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| 14 | 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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