| 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 | ATP6V0A1, ATP6V0A2, ATP6V0A4, TCIRG1
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| Differential localization of vacuolar H+-ATPases containing a1, a2, a3, or a4 (ATP6V0A1-4) subunit isoforms along the nephron.
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| Schulz N, Dave MH, Stehberger PA, Chau T, Wagner CA.
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| Cell Physiol Biochem 20(1-4):109-20.
2007
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| 6 | CTLA4, TCIRG1
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| TIRC7 inhibits T cell proliferation by modulation of CTLA-4 expression.
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| Bulwin GC, Heinemann T, Bugge V, Winter M, Lohan A, Schlawinsky M, Schulze A, Wälter S, Sabat R, Schülein R, Wiesner B, Veh RW, Löhler J, Blumberg RS, Volk HD, Utku N.
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| J Immunol 177(10):6833-41.
2006
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| 7 | TCIRG1
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| Identification of new alternative splice events in the TCIRG1 gene in different human tissues.
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| Smirnova AS, Morgun A, Shulzhenko N, Silva ID, Gerbase-DeLima M.
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| Biochem Biophys Res Commun 330(3):943-9. 2005
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| 8 | TCIRG1, OPTB2
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| TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA.
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| Susani L, Pangrazio A, Sobacchi C, Taranta A, Mortier G, Savarirayan R, Villa A, Orchard P, Vezzoni P, Albertini A, Frattini A, Pagani F.
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| Hum Mutat 24(3):225-35. 2004
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| 9 | 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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| 10 | 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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| 11 | TCIRG1
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| Three subunit a isoforms of mouse vacuolar H(+)-ATPase. Preferential expression of the a3 isoform during osteoclast differentiation.
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| Toyomura T, Oka T, Yamaguchi C, Wada Y, Futai M.
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| J Biol Chem 275(12):8760-5. 2000
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| 12 | 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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| 13 | TCIRG1
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| Genomic organization of the gene coding for TIRC7, a novel membrane protein essential for T cell activation.
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| Heinemann T, et al.
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| Genomics 57(3):398-406. 1999
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| 14 | TCIRG1
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| Prevention of acute allograft rejection by antibody targeting of TIRC7, a novel T cell membrane protein.
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| Utku N, et al.
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| Immunity 9(4):509-18. 1998
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| 15 | TCIRG1
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| The vacuolar H+-ATPase: a universal proton pump of eukaryotes.
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| Finbow ME, Harrison MA.
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| Biochem J 324 ( Pt 3):697-712. Review.
1997
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| 16 | TCIRG1
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| Molecular cloning and characterization of a putative novel human osteoclast-specific 116-kDa vacuolar proton pump subunit.
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| Li YP, et al.
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| Biochem Biophys Res Commun 218(3):813-21. 1996
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