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Journal Abstract Search

136 related items for PubMed ID: 35047842

  • 1. Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta.
    Tran TT, Keller RB, Guillemyn B, Pepin M, Corteville JE, Khatib S, Fallah MS, Zeinali S, Malfait F, Symoens S, Coucke P, Witters P, Levtchenko E, Bagherian H, Nickerson DA, Bamshad MJ, Chong JX, University of Washington Center for Mendelian Genomics, Byers PH.
    HGG Adv; 2021 Oct 14; 2(4):100051. PubMed ID: 35047842
    [Abstract] [Full Text] [Related]

  • 2. Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
    Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li Y, Yigit G, Reintjes N, Altmüller J, Nürnberg P, Cavalcanti DP, Zabel B, Warman ML, Bertola DR, Wollnik B, Netzer C.
    Am J Hum Genet; 2019 Oct 03; 105(4):836-843. PubMed ID: 31564437
    [Abstract] [Full Text] [Related]

  • 3. Compound Heterozygous Frameshift Mutations in MESD Cause a Lethal Syndrome Suggestive of Osteogenesis Imperfecta Type XX.
    Stürznickel J, Jähn-Rickert K, Zustin J, Hennig F, Delsmann MM, Schoner K, Rehder H, Kreczy A, Schinke T, Amling M, Kornak U, Oheim R.
    J Bone Miner Res; 2021 Jun 03; 36(6):1077-1087. PubMed ID: 33596325
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  • 6. Long-term follow-up findings in a Turkish girl with osteogenesis imperfecta type XX caused by a homozygous MESD variant.
    Uludağ Alkaya D, Uyguner ZO, Güneş N, Tüysüz B.
    Am J Med Genet A; 2022 May 03; 188(5):1639-1646. PubMed ID: 35092157
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  • 7. Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant.
    Zhytnik L, Duy BH, Eekhoff M, Wisse L, Pals G, Reimann E, Kõks S, Märtson A, Maugeri A, Maasalu K, Micha D.
    Genes (Basel); 2022 Feb 24; 13(3):. PubMed ID: 35327962
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  • 8. Mesd is a universal inhibitor of Wnt coreceptors LRP5 and LRP6 and blocks Wnt/beta-catenin signaling in cancer cells.
    Lu W, Liu CC, Thottassery JV, Bu G, Li Y.
    Biochemistry; 2010 Jun 08; 49(22):4635-43. PubMed ID: 20446724
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  • 9. The C-terminal region Mesd peptide mimics full-length Mesd and acts as an inhibitor of Wnt/β-catenin signaling in cancer cells.
    Lin C, Lu W, Zhang W, Londoño-Joshi AI, Buchsbaum DJ, Bu G, Li Y.
    PLoS One; 2013 Jun 08; 8(2):e58102. PubMed ID: 23469146
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  • 10. Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta.
    Ohata Y, Takeyari S, Nakano Y, Kitaoka T, Nakayama H, Bizaoui V, Yamamoto K, Miyata K, Yamamoto K, Fujiwara M, Kubota T, Michigami T, Yamamoto K, Yamamoto T, Namba N, Ebina K, Yoshikawa H, Ozono K.
    Osteoporos Int; 2019 Nov 08; 30(11):2333-2342. PubMed ID: 31363794
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  • 12. Mesd binds to mature LDL-receptor-related protein-6 and antagonizes ligand binding.
    Li Y, Chen J, Lu W, McCormick LM, Wang J, Bu G.
    J Cell Sci; 2005 Nov 15; 118(Pt 22):5305-14. PubMed ID: 16263759
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  • 13. Update on the Genetics of Osteogenesis Imperfecta.
    Jovanovic M, Marini JC.
    Calcif Tissue Int; 2024 Dec 15; 115(6):891-914. PubMed ID: 39127989
    [Abstract] [Full Text] [Related]

  • 14. Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta.
    Zhang H, Yue H, Wang C, Hu W, Gu J, He J, Fu W, Hu Y, Li M, Zhang Z.
    Mol Med Rep; 2016 Nov 15; 14(5):4918-4926. PubMed ID: 27748872
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  • 15. Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta.
    Andersson K, Malmgren B, Åström E, Nordgren A, Taylan F, Dahllöf G.
    Orphanet J Rare Dis; 2020 Mar 31; 15(1):80. PubMed ID: 32234057
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  • 16. Mesd encodes an LRP5/6 chaperone essential for specification of mouse embryonic polarity.
    Hsieh JC, Lee L, Zhang L, Wefer S, Brown K, DeRossi C, Wines ME, Rosenquist T, Holdener BC.
    Cell; 2003 Feb 07; 112(3):355-67. PubMed ID: 12581525
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  • 17. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.
    Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJ, Pyott S, Byers PH, Eyre DR, Baldridge D, Lee B, Merrill AE, Davis EC, Cohn DH, Akarsu N, Krakow D.
    Am J Hum Genet; 2010 Apr 09; 86(4):551-9. PubMed ID: 20362275
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  • 18. Mendelian bone fragility disorders.
    Robinson ME, Rauch F.
    Bone; 2019 Sep 09; 126():11-17. PubMed ID: 31039433
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  • 19. A family with homozygous and heterozygous p.Gly337Ser mutations in COL1A2.
    Udomchaiprasertkul W, Kuptanon C, Porntaveetus T, Shotelersuk V.
    Eur J Med Genet; 2020 Jun 09; 63(6):103896. PubMed ID: 32081708
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  • 20. Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI.
    Wang JY, Liu Y, Song LJ, Lv F, Xu XJ, San A, Wang J, Yang HM, Yang ZY, Jiang Y, Wang O, Xia WB, Xing XP, Li M.
    Calcif Tissue Int; 2017 Jan 09; 100(1):55-66. PubMed ID: 27796462
    [Abstract] [Full Text] [Related]

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