These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

339 related articles for article (PubMed ID: 17192541)

  • 1. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
    Barnes AM; Chang W; Morello R; Cabral WA; Weis M; Eyre DR; Leikin S; Makareeva E; Kuznetsova N; Uveges TE; Ashok A; Flor AW; Mulvihill JJ; Wilson PL; Sundaram UT; Lee B; Marini JC
    N Engl J Med; 2006 Dec; 355(26):2757-64. PubMed ID: 17192541
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix.
    Valli M; Barnes AM; Gallanti A; Cabral WA; Viglio S; Weis MA; Makareeva E; Eyre D; Leikin S; Antoniazzi F; Marini JC; Mottes M
    Clin Genet; 2012 Nov; 82(5):453-9. PubMed ID: 21955071
    [TBL] [Abstract][Full Text] [Related]  

  • 3. CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
    Van Dijk FS; Nesbitt IM; Nikkels PG; Dalton A; Bongers EM; van de Kamp JM; Hilhorst-Hofstee Y; Den Hollander NS; Lachmeijer AM; Marcelis CL; Tan-Sindhunata GM; van Rijn RR; Meijers-Heijboer H; Cobben JM; Pals G
    Eur J Hum Genet; 2009 Dec; 17(12):1560-9. PubMed ID: 19550437
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.
    Cabral WA; Chang W; Barnes AM; Weis M; Scott MA; Leikin S; Makareeva E; Kuznetsova NV; Rosenbaum KN; Tifft CJ; Bulas DI; Kozma C; Smith PA; Eyre DR; Marini JC
    Nat Genet; 2007 Mar; 39(3):359-65. PubMed ID: 17277775
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.
    Marini JC; Cabral WA; Barnes AM
    Cell Tissue Res; 2010 Jan; 339(1):59-70. PubMed ID: 19862557
    [TBL] [Abstract][Full Text] [Related]  

  • 6. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
    Baldridge D; Schwarze U; Morello R; Lennington J; Bertin TK; Pace JM; Pepin MG; Weis M; Eyre DR; Walsh J; Lambert D; Green A; Robinson H; Michelson M; Houge G; Lindman C; Martin J; Ward J; Lemyre E; Mitchell JJ; Krakow D; Rimoin DL; Cohn DH; Byers PH; Lee B
    Hum Mutat; 2008 Dec; 29(12):1435-42. PubMed ID: 18566967
    [TBL] [Abstract][Full Text] [Related]  

  • 7. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.
    Morello R; Bertin TK; Chen Y; Hicks J; Tonachini L; Monticone M; Castagnola P; Rauch F; Glorieux FH; Vranka J; Bächinger HP; Pace JM; Schwarze U; Byers PH; Weis M; Fernandes RJ; Eyre DR; Yao Z; Boyce BF; Lee B
    Cell; 2006 Oct; 127(2):291-304. PubMed ID: 17055431
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genetic Analysis, Phenotypic Spectrum and Functional Study of Rare Osteogenesis Imperfecta Caused by CRTAP Variants.
    Zhou B; Gao P; Hu J; Lin X; Sun L; Zhang Q; Jiang Y; Wang O; Xia W; Xing X; Li M
    J Clin Endocrinol Metab; 2024 Jun; 109(7):1803-1813. PubMed ID: 38214665
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation.
    Willaert A; Malfait F; Symoens S; Gevaert K; Kayserili H; Megarbane A; Mortier G; Leroy JG; Coucke PJ; De Paepe A
    J Med Genet; 2009 Apr; 46(4):233-41. PubMed ID: 19088120
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.
    Kelley BP; Malfait F; Bonafe L; Baldridge D; Homan E; Symoens S; Willaert A; Elcioglu N; Van Maldergem L; Verellen-Dumoulin C; Gillerot Y; Napierala D; Krakow D; Beighton P; Superti-Furga A; De Paepe A; Lee B
    J Bone Miner Res; 2011 Mar; 26(3):666-72. PubMed ID: 20839288
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.
    Pyott SM; Schwarze U; Christiansen HE; Pepin MG; Leistritz DF; Dineen R; Harris C; Burton BK; Angle B; Kim K; Sussman MD; Weis M; Eyre DR; Russell DW; McCarthy KJ; Steiner RD; Byers PH
    Hum Mol Genet; 2011 Apr; 20(8):1595-609. PubMed ID: 21282188
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation.
    Marini JC; Reich A; Smith SM
    Curr Opin Pediatr; 2014 Aug; 26(4):500-7. PubMed ID: 25007323
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Severe osteogenesis imperfecta caused by a small in-frame deletion in CRTAP.
    Amor IM; Rauch F; Gruenwald K; Weis M; Eyre DR; Roughley P; Glorieux FH; Morello R
    Am J Med Genet A; 2011 Nov; 155A(11):2865-70. PubMed ID: 21964860
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Mutations of noncollagen genes in osteogenesis imperfecta--implications of the gene products in collagen biosynthesis and pathogenesis of disease].
    Galicka A
    Postepy Hig Med Dosw (Online); 2012 Jun; 66():359-71. PubMed ID: 22706122
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta.
    Barbirato C; Trancozo M; Almeida MG; Almeida LS; Santos TO; Duarte JC; Rebouças MR; Sipolatti V; Nunes VR; Paula F
    Genet Mol Res; 2015 Dec; 14(4):15848-58. PubMed ID: 26634552
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Differential effects of collagen prolyl 3-hydroxylation on skeletal tissues.
    Homan EP; Lietman C; Grafe I; Lennington J; Morello R; Napierala D; Jiang MM; Munivez EM; Dawson B; Bertin TK; Chen Y; Lua R; Lichtarge O; Hicks J; Weis MA; Eyre D; Lee BH
    PLoS Genet; 2014 Jan; 10(1):e1004121. PubMed ID: 24465224
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex.
    Chang W; Barnes AM; Cabral WA; Bodurtha JN; Marini JC
    Hum Mol Genet; 2010 Jan; 19(2):223-34. PubMed ID: 19846465
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Sclerostin Antibody Treatment Improves the Bone Phenotype of Crtap(-/-) Mice, a Model of Recessive Osteogenesis Imperfecta.
    Grafe I; Alexander S; Yang T; Lietman C; Homan EP; Munivez E; Chen Y; Jiang MM; Bertin T; Dawson B; Asuncion F; Ke HZ; Ominsky MS; Lee B
    J Bone Miner Res; 2016 May; 31(5):1030-40. PubMed ID: 26716893
    [TBL] [Abstract][Full Text] [Related]  

  • 19. PPIB mutations cause severe osteogenesis imperfecta.
    van Dijk FS; Nesbitt IM; Zwikstra EH; Nikkels PG; Piersma SR; Fratantoni SA; Jimenez CR; Huizer M; Morsman AC; Cobben JM; van Roij MH; Elting MW; Verbeke JI; Wijnaendts LC; Shaw NJ; Högler W; McKeown C; Sistermans EA; Dalton A; Meijers-Heijboer H; Pals G
    Am J Hum Genet; 2009 Oct; 85(4):521-7. PubMed ID: 19781681
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.
    Christiansen HE; Schwarze U; Pyott SM; AlSwaid A; Al Balwi M; Alrasheed S; Pepin MG; Weis MA; Eyre DR; Byers PH
    Am J Hum Genet; 2010 Mar; 86(3):389-98. PubMed ID: 20188343
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.