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8. 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]
9. 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]
10. 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]
11. 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]
12. Biochemical characterization of the prolyl 3-hydroxylase 1.cartilage-associated protein.cyclophilin B complex. Ishikawa Y; Wirz J; Vranka JA; Nagata K; Bächinger HP J Biol Chem; 2009 Jun; 284(26):17641-7. PubMed ID: 19419969 [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. 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]
15. 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]
16. 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]
17. 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]
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. 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]
20. 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] [Next] [New Search]