Citations for
1CLCN7, OPTA2, OPTB1, OPTB4, TCIRG1
CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals.
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.
J Bone Miner Res 29(4):982-91. doi: 10.1002/jbmr.2100. 2014
2OPTB1, TCIRG1
Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.
Bliznetz EA, Tverskaya SM, Zinchenko RA, Abrukova AV, Savaskina EN, Nikulin MV, Kirillov AG, Ginter EK, Polyakov AV.
Eur J Hum Genet 17(5):664-72. Epub 2009 Jan 28. 2009
3OPTB1, TCIRG1
Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients.
Pangrazio A, Caldana ME, Sobacchi C, Panaroni C, Susani L, Mihci E, Cavaliere ML, Giliani S, Villa A, Frattini A.
J Bone Miner Res 24(1):162-7. 2009
4OPTB1, TCIRG1
A patient with TCIRG1-related infantile osteopetrosis presenting with congenital anomalies: chance association or a case for pleiotropy?
Conway RL, Falk RE.
Am J Med Genet A 143(24):3140-3. No abstract available. 2007
5OPTB1, TCIRG1
Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis
Scimeca JC, Quincey D, Parrinello H, Romatet D, Grosgeorge J, Gaudray P, Philip N, Fischer A, Carle GF.
Hum Mutat 21(2):151-7. 2003
6CLCN7, OPTB1
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.
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.
J Bone Miner Res 18(10):1740-7. 2003
7OPTB1, TCIRG1
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.
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.
Nat Genet 25(3):343-6. 2000
8OPTB1, TCIRG1
Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis.
Kornak U, Schulz A, Friedrich W, Uhlhaas S, Kremens B, Voit T, Hasan C, Bode U, Jentsch TJ, Kubisch C.
Hum Mol Genet 9(13):2059-63. 2000
9OPTA1, OPTB1
Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation.
Heaney C, et al.
Hum Mol Genet 9 : 1407-1410. 1998