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7. 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]
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11. Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta. Cabral WA; Perdivara I; Weis M; Terajima M; Blissett AR; Chang W; Perosky JE; Makareeva EN; Mertz EL; Leikin S; Tomer KB; Kozloff KM; Eyre DR; Yamauchi M; Marini JC PLoS Genet; 2014 Jun; 10(6):e1004465. PubMed ID: 24968150 [TBL] [Abstract][Full Text] [Related]
12. 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]
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17. 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]
18. 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]
19. Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in Mikhail KA; VanSickle E; Rossetti LZ Cold Spring Harb Mol Case Stud; 2023 Feb; 9(1):. PubMed ID: 36963805 [TBL] [Abstract][Full Text] [Related]