| 1 | 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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| 2 | OPTB1, TCIRG1
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| Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.
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| Bliznetz EA, Tverskaya SM, Zinchenko RA, Abrukova AV, Savaskina EN, Nikulin MV, Kirillov AG, Ginter EK, Polyakov AV.
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| Eur J Hum Genet 17(5):664-72. Epub 2009 Jan 28.
2009
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| 3 | OPTB1, TCIRG1
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| Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients.
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| Pangrazio A, Caldana ME, Sobacchi C, Panaroni C, Susani L, Mihci E, Cavaliere ML, Giliani S, Villa A, Frattini A.
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| J Bone Miner Res 24(1):162-7.
2009
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| 4 | OPTB1, TCIRG1
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| A patient with TCIRG1-related infantile osteopetrosis presenting with congenital anomalies: chance association or a case for pleiotropy?
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| Conway RL, Falk RE.
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| Am J Med Genet A 143(24):3140-3. No abstract available. 2007
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| 5 | OPTB1, TCIRG1
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| Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis
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| Scimeca JC, Quincey D, Parrinello H, Romatet D, Grosgeorge J, Gaudray P, Philip N, Fischer A, Carle GF.
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| Hum Mutat 21(2):151-7. 2003
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| 6 | 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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| 7 | OPTB1, TCIRG1
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| Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.
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| Frattini A, Orchard PJ, Sobacchi C, Giliani S, Abinun M, Mattsson JP, Keeling DJ, Andersson AK, Wallbrandt P, Zecca L, Notarangelo LD, Vezzoni P, Villa A.
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| Nat Genet 25(3):343-6. 2000
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| 8 | OPTB1, TCIRG1
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| Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis.
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| Kornak U, Schulz A, Friedrich W, Uhlhaas S, Kremens B, Voit T, Hasan C, Bode U, Jentsch TJ, Kubisch C.
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| Hum Mol Genet 9(13):2059-63. 2000
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| 9 | OPTA1, OPTB1
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| Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation.
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| Heaney C, et al.
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| Hum Mol Genet 9 : 1407-1410. 1998
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