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Journal Abstract Search

211 related items for PubMed ID: 17997709

  • 1. A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts.
    Del Fattore A, Fornari R, Van Wesenbeeck L, de Freitas F, Timmermans JP, Peruzzi B, Cappariello A, Rucci N, Spera G, Helfrich MH, Van Hul W, Migliaccio S, Teti A.
    J Bone Miner Res; 2008 Mar; 23(3):380-91. PubMed ID: 17997709
    [Abstract] [Full Text] [Related]

  • 2. Characterization of a Relatively Malignant Form of Osteopetrosis Caused by a Novel Mutation in the PLEKHM1 Gene.
    Bo T, Yan F, Guo J, Lin X, Zhang H, Guan Q, Wang H, Fang L, Gao L, Zhao J, Xu C.
    J Bone Miner Res; 2016 Nov; 31(11):1979-1987. PubMed ID: 27291868
    [Abstract] [Full Text] [Related]

  • 3. Disease status in autosomal dominant osteopetrosis type 2 is determined by osteoclastic properties.
    Chu K, Snyder R, Econs MJ.
    J Bone Miner Res; 2006 Jul; 21(7):1089-97. PubMed ID: 16813529
    [Abstract] [Full Text] [Related]

  • 4. TRAFD1 (FLN29) Interacts with Plekhm1 and Regulates Osteoclast Acidification and Resorption.
    Witwicka H, Jia H, Kutikov A, Reyes-Gutierrez P, Li X, Odgren PR.
    PLoS One; 2015 Jul; 10(5):e0127537. PubMed ID: 25992615
    [Abstract] [Full Text] [Related]

  • 5. Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans.
    Van Wesenbeeck L, Odgren PR, Coxon FP, Frattini A, Moens P, Perdu B, MacKay CA, Van Hul E, Timmermans JP, Vanhoenacker F, Jacobs R, Peruzzi B, Teti A, Helfrich MH, Rogers MJ, Villa A, Van Hul W.
    J Clin Invest; 2007 Apr; 117(4):919-30. PubMed ID: 17404618
    [Abstract] [Full Text] [Related]

  • 6. RANKL coordinates cell cycle withdrawal and differentiation in osteoclasts through the cyclin-dependent kinase inhibitors p27KIP1 and p21CIP1.
    Sankar U, Patel K, Rosol TJ, Ostrowski MC.
    J Bone Miner Res; 2004 Aug; 19(8):1339-48. PubMed ID: 15231022
    [Abstract] [Full Text] [Related]

  • 7. Limited rescue of osteoclast-poor osteopetrosis after successful engraftment by cord blood from an unrelated donor.
    Nicholls BM, Bredius RG, Hamdy NA, Gerritsen EJ, Lankester AC, Hogendoorn PC, Nesbitt SA, Horton MA, Flanagan AM.
    J Bone Miner Res; 2005 Dec; 20(12):2264-70. PubMed ID: 16294279
    [Abstract] [Full Text] [Related]

  • 8. In vitro differentiation of CD14 cells from osteopetrotic subjects: contrasting phenotypes with TCIRG1, CLCN7, and attachment defects.
    Blair HC, Borysenko CW, Villa A, Schlesinger PH, Kalla SE, Yaroslavskiy BB, Garćia-Palacios V, Oakley JI, Orchard PJ.
    J Bone Miner Res; 2004 Aug; 19(8):1329-38. PubMed ID: 15231021
    [Abstract] [Full Text] [Related]

  • 9. Osteoclast-derived serum tartrate-resistant acid phosphatase 5b in Albers-Schonberg disease (type II autosomal dominant osteopetrosis).
    Alatalo SL, Ivaska KK, Waguespack SG, Econs MJ, Väänänen HK, Halleen JM.
    Clin Chem; 2004 May; 50(5):883-90. PubMed ID: 15016726
    [Abstract] [Full Text] [Related]

  • 10. Osteopetrosis associated with PLEKHM1 and SNX10 genes, both involved in osteoclast vesicular trafficking.
    Huybrechts Y, Van Hul W.
    Bone; 2022 Nov; 164():116520. PubMed ID: 35981699
    [Abstract] [Full Text] [Related]

  • 11. Endogenous expression and endocytosis of tartrate-resistant acid phosphatase (TRACP) by osteoblast-like cells.
    Perez-Amodio S, Vogels IM, Schoenmaker T, Jansen DC, Alatalo SL, Halleen JM, Beertsen W, Everts V.
    Bone; 2005 Jun; 36(6):1065-77. PubMed ID: 15878315
    [Abstract] [Full Text] [Related]

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  • 13. Osteopetrosis with micro-lacunar resorption because of defective integrin organization.
    Blair HC, Yaroslavskiy BB, Robinson LJ, Mapara MY, Pangrazio A, Guo L, Chen K, Vezzoni P, Tolar J, Orchard PJ.
    Lab Invest; 2009 Sep; 89(9):1007-17. PubMed ID: 19546854
    [Abstract] [Full Text] [Related]

  • 14. Intracellular machinery for matrix degradation in bone-resorbing osteoclasts.
    Vääräniemi J, Halleen JM, Kaarlonen K, Ylipahkala H, Alatalo SL, Andersson G, Kaija H, Vihko P, Väänänen HK.
    J Bone Miner Res; 2004 Sep; 19(9):1432-40. PubMed ID: 15312243
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  • 16. Tartrate-resistant acid phosphatase knockout mice.
    Hayman AR, Cox TM.
    J Bone Miner Res; 2003 Oct; 18(10):1905-7. PubMed ID: 14584904
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  • 18. Case Report of Clinical Vignette: Osteopetrosis.
    Moore JB, Hoang TD, Shwayhat AF.
    Mil Med; 2017 Mar; 182(3):e1886-e1888. PubMed ID: 28290981
    [Abstract] [Full Text] [Related]

  • 19. 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; 162(1):57-68. PubMed ID: 12507890
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