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239 related items for PubMed ID: 15970548

  • 1. Human osteopetroses and the osteoclast V-H+-ATPase enzyme system.
    Ogbureke KU, Zhao Q, Li YP.
    Front Biosci; 2005 Sep 01; 10():2940-54. PubMed ID: 15970548
    [Abstract] [Full Text] [Related]

  • 2. Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis.
    Taranta A, Migliaccio S, Recchia I, Caniglia M, Luciani M, De Rossi G, Dionisi-Vici C, Pinto RM, Francalanci P, Boldrini R, Lanino E, Dini G, Morreale G, Ralston SH, Villa A, Vezzoni P, Del Principe D, Cassiani F, Palumbo G, Teti A.
    Am J Pathol; 2003 Jan 01; 162(1):57-68. PubMed ID: 12507890
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  • 3. 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; 2000 Jul 01; 25(3):343-6. PubMed ID: 10888887
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 5. Osteopetroses, emphasizing potential approaches to treatment.
    Teti A, Econs MJ.
    Bone; 2017 Sep 15; 102():50-59. PubMed ID: 28167345
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  • 7. Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family.
    Ajmal M, Mir A, Wahid S, Khor CC, Foo JN, Siddiqi S, Kauser M, Malik SA, Nasir M.
    BMC Med Genet; 2017 Dec 13; 18(1):148. PubMed ID: 29237407
    [Abstract] [Full Text] [Related]

  • 8. The R740S mutation in the V-ATPase a3 subunit results in osteoclast apoptosis and defective early-stage autophagy.
    Ochotny N, Voronov I, Owen C, Aubin JE, Manolson MF.
    J Cell Biochem; 2013 Dec 13; 114(12):2823-33. PubMed ID: 23908015
    [Abstract] [Full Text] [Related]

  • 9. The V-ATPase a3 subunit mutation R740S is dominant negative and results in osteopetrosis in mice.
    Ochotny N, Flenniken AM, Owen C, Voronov I, Zirngibl RA, Osborne LR, Henderson JE, Adamson SL, Rossant J, Manolson MF, Aubin JE.
    J Bone Miner Res; 2011 Jul 13; 26(7):1484-93. PubMed ID: 21305608
    [Abstract] [Full Text] [Related]

  • 10. Osteopetrosis.
    Kocher MS, Kasser JR.
    Am J Orthop (Belle Mead NJ); 2003 May 13; 32(5):222-8. PubMed ID: 12772872
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  • 13. A clinical and molecular overview of the human osteopetroses.
    Balemans W, Van Wesenbeeck L, Van Hul W.
    Calcif Tissue Int; 2005 Nov 13; 77(5):263-74. PubMed ID: 16307387
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  • 15. 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; 2000 Aug 12; 9(13):2059-63. PubMed ID: 10942435
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  • 16. 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 12; 57(1):1-9. PubMed ID: 23907031
    [Abstract] [Full Text] [Related]

  • 17. Osteoclast rich osteopetrosis due to defects in the TCIRG1 gene.
    Capo V, Abinun M, Villa A.
    Bone; 2022 Dec 12; 165():116519. PubMed ID: 35981697
    [Abstract] [Full Text] [Related]

  • 18. Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation.
    Bruder E, Stallmach T, Peier K, Superti-Furga A, Vezzoni P.
    Pediatr Pathol Mol Med; 2003 Dec 12; 22(1):3-9. PubMed ID: 12687885
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  • 19. Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification.
    Li YP, Chen W, Liang Y, Li E, Stashenko P.
    Nat Genet; 1999 Dec 12; 23(4):447-51. PubMed ID: 10581033
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  • 20. Targeting NSG Mice Engrafting Cells with a Clinically Applicable Lentiviral Vector Corrects Osteoclasts in Infantile Malignant Osteopetrosis.
    Moscatelli I, Löfvall H, Schneider Thudium C, Rothe M, Montano C, Kertész Z, Sirin M, Schulz A, Schambach A, Henriksen K, Richter J.
    Hum Gene Ther; 2018 Aug 12; 29(8):938-949. PubMed ID: 28726516
    [Abstract] [Full Text] [Related]

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