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6. Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. Barnes AM; Carter EM; Cabral WA; Weis M; Chang W; Makareeva E; Leikin S; Rotimi CN; Eyre DR; Raggio CL; Marini JC N Engl J Med; 2010 Feb; 362(6):521-8. PubMed ID: 20089953 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. Cyclophilin B control of lysine post-translational modifications of skin type I collagen. Terajima M; Taga Y; Cabral WA; Liu Y; Nagasawa M; Sumida N; Kayashima Y; Chandrasekaran P; Han L; Maeda N; Perdivara I; Hattori S; Marini JC; Yamauchi M PLoS Genet; 2019 Jun; 15(6):e1008196. PubMed ID: 31173582 [TBL] [Abstract][Full Text] [Related]
9. Cyclophilin B Deficiency Causes Abnormal Dentin Collagen Matrix. Terajima M; Taga Y; Cabral WA; Nagasawa M; Sumida N; Hattori S; Marini JC; Yamauchi M J Proteome Res; 2017 Aug; 16(8):2914-2923. PubMed ID: 28696707 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix. Barnes AM; Cabral WA; Weis M; Makareeva E; Mertz EL; Leikin S; Eyre D; Trujillo C; Marini JC Hum Mutat; 2012 Nov; 33(11):1589-98. PubMed ID: 22718341 [TBL] [Abstract][Full Text] [Related]
13. [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]
14. Cyclophilin-B Modulates Collagen Cross-linking by Differentially Affecting Lysine Hydroxylation in the Helical and Telopeptidyl Domains of Tendon Type I Collagen. Terajima M; Taga Y; Chen Y; Cabral WA; Hou-Fu G; Srisawasdi S; Nagasawa M; Sumida N; Hattori S; Kurie JM; Marini JC; Yamauchi M J Biol Chem; 2016 Apr; 291(18):9501-12. PubMed ID: 26934917 [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. Substitution of murine type I collagen A1 3-hydroxylation site alters matrix structure but does not recapitulate osteogenesis imperfecta bone dysplasia. Cabral WA; Fratzl-Zelman N; Weis M; Perosky JE; Alimasa A; Harris R; Kang H; Makareeva E; Barnes AM; Roschger P; Leikin S; Klaushofer K; Forlino A; Backlund PS; Eyre DR; Kozloff KM; Marini JC Matrix Biol; 2020 Aug; 90():20-39. PubMed ID: 32112888 [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. 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]
19. 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]
20. Crtap and p3h1 knock out zebrafish support defective collagen chaperoning as the cause of their osteogenesis imperfecta phenotype. Tonelli F; Cotti S; Leoni L; Besio R; Gioia R; Marchese L; Giorgetti S; Villani S; Gistelinck C; Wagener R; Kobbe B; Fiedler IAK; Larionova D; Busse B; Eyre D; Rossi A; Witten PE; Forlino A Matrix Biol; 2020 Aug; 90():40-60. PubMed ID: 32173581 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]