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.
455 related articles for article (PubMed ID: 25007323)
21. Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development. Marini JC; Cabral WA; Barnes AM; Chang W Cell Cycle; 2007 Jul; 6(14):1675-81. PubMed ID: 17630507 [TBL] [Abstract][Full Text] [Related]
22. A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor. Farber CR; Reich A; Barnes AM; Becerra P; Rauch F; Cabral WA; Bae A; Quinlan A; Glorieux FH; Clemens TL; Marini JC J Bone Miner Res; 2014 Jun; 29(6):1402-11. PubMed ID: 24519609 [TBL] [Abstract][Full Text] [Related]
23. 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]
24. Osteogenesis Imperfecta: Mechanisms and Signaling Pathways Connecting Classical and Rare OI Types. Jovanovic M; Guterman-Ram G; Marini JC Endocr Rev; 2022 Jan; 43(1):61-90. PubMed ID: 34007986 [TBL] [Abstract][Full Text] [Related]
25. 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]
27. 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]
28. 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]
29. The structural basis for the collagen processing by human P3H1/CRTAP/PPIB ternary complex. Li W; Peng J; Yao D; Rao B; Xia Y; Wang Q; Li S; Cao M; Shen Y; Ma P; Liao R; Qin A; Zhao J; Cao Y Nat Commun; 2024 Sep; 15(1):7844. PubMed ID: 39245686 [TBL] [Abstract][Full Text] [Related]
30. Genetics of bone diseases: Paget's disease, fibrous dysplasia, osteopetrosis, and osteogenesis imperfecta. Michou L; Brown JP Joint Bone Spine; 2011 May; 78(3):252-8. PubMed ID: 20855225 [TBL] [Abstract][Full Text] [Related]
31. 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]
32. Osteogenesis imperfecta caused by COL1A1, CRTAP and LEPRE1 mutations. Report of 2cases. Caudevilla Lafuente P; Izquierdo-Álvarez S; Labarta Aizpún JI Med Clin (Barc); 2019 Oct; 153(8):336-337. PubMed ID: 30389107 [No Abstract] [Full Text] [Related]
33. Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance. Pyott SM; Pepin MG; Schwarze U; Yang K; Smith G; Byers PH Genet Med; 2011 Feb; 13(2):125-30. PubMed ID: 21239989 [TBL] [Abstract][Full Text] [Related]
34. Analysis of FKBP10, SERPINH1, and SERPINF1 genes in patients with osteogenesis imperfecta. Barbirato C; Trancozo M; Rebouças MR; Sipolatti V; Nunes VR; Paula F Genet Mol Res; 2016 Sep; 15(3):. PubMed ID: 27706701 [TBL] [Abstract][Full Text] [Related]
35. Heat shock protein 47 and 65-kDa FK506-binding protein weakly but synergistically interact during collagen folding in the endoplasmic reticulum. Ishikawa Y; Holden P; Bächinger HP J Biol Chem; 2017 Oct; 292(42):17216-17224. PubMed ID: 28860186 [TBL] [Abstract][Full Text] [Related]
36. 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]
37. Cell differentiation and matrix organization are differentially affected during bone formation in osteogenesis imperfecta zebrafish models with different genetic defects impacting collagen type I structure. Daponte V; Tonelli F; Masiero C; Syx D; Exbrayat-Héritier C; Biggiogera M; Willaert A; Rossi A; Coucke PJ; Ruggiero F; Forlino A Matrix Biol; 2023 Aug; 121():105-126. PubMed ID: 37336269 [TBL] [Abstract][Full Text] [Related]
38. 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]
39. Pigment epithelium-derived factor restoration increases bone mass and improves bone plasticity in a model of osteogenesis imperfecta type VI via Wnt3a blockade. Belinsky GS; Sreekumar B; Andrejecsk JW; Saltzman WM; Gong J; Herzog RI; Lin S; Horsley V; Carpenter TO; Chung C FASEB J; 2016 Aug; 30(8):2837-48. PubMed ID: 27127101 [TBL] [Abstract][Full Text] [Related]
40. Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta. Syx D; Guillemyn B; Symoens S; Sousa AB; Medeira A; Whiteford M; Hermanns-Lê T; Coucke PJ; De Paepe A; Malfait F J Bone Miner Res; 2015 Aug; 30(8):1445-56. PubMed ID: 25656619 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]