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Journal Abstract Search

370 related items for PubMed ID: 29237407

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  • 4. V-ATPase a3 isoform mutations identified in osteopetrosis patients abolish its expression and disrupt osteoclast function.
    Matsumoto N, Matsukawa R, Takahashi S, Kudo K, Sun-Wada GH, Wada Y, Nakanishi-Matsui M.
    Exp Cell Res; 2020 Apr 15; 389(2):111901. PubMed ID: 32045577
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  • 5. Two novel mutations in TCIRG1 induced infantile malignant osteopetrosis: a case report.
    Wu P, Cai Z, Jiang WH, Lu G, Wu PQ, Xie ZW, Peng JZ, Chen C, Qi JY, Xu LZ, Shen KL, Zeng HS, Yin GQ.
    BMC Pediatr; 2021 Jul 01; 21(1):297. PubMed ID: 34210262
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  • 6. Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis.
    Yu T, Yu Y, Wang J, Yin L, Zhou Y, Ying D, Huang R, Chen H, Wu S, Shen Y, Fu Q, Chen F.
    Mol Med Rep; 2014 Apr 01; 9(4):1191-6. PubMed ID: 24535484
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  • 15. Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications.
    Pangrazio A, Caldana ME, Lo Iacono N, Mantero S, Vezzoni P, Villa A, Sobacchi C.
    Osteoporos Int; 2012 Nov 01; 23(11):2713-8. PubMed ID: 22231430
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  • 16. The V-ATPase a3 Subunit: Structure, Function and Therapeutic Potential of an Essential Biomolecule in Osteoclastic Bone Resorption.
    Chu A, Zirngibl RA, Manolson MF.
    Int J Mol Sci; 2021 Jun 28; 22(13):. PubMed ID: 34203247
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  • 19. Lentiviral gene transfer of TCIRG1 into peripheral blood CD34(+) cells restores osteoclast function in infantile malignant osteopetrosis.
    Moscatelli I, Thudium CS, Flores C, Schulz A, Askmyr M, Gudmann NS, Andersen NM, Porras O, Karsdal MA, Villa A, Fasth A, Henriksen K, Richter J.
    Bone; 2013 Nov 28; 57(1):1-9. PubMed ID: 23907031
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  • 20. A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.
    Borthwick KJ, Kandemir N, Topaloglu R, Kornak U, Bakkaloglu A, Yordam N, Ozen S, Mocan H, Shah GN, Sly WS, Karet FE.
    J Med Genet; 2003 Feb 28; 40(2):115-21. PubMed ID: 12566520
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