30 related articles for article (PubMed ID: 7628516)
1. 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]
2. Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome.
Gistelinck C; Witten PE; Huysseune A; Symoens S; Malfait F; Larionova D; Simoens P; Dierick M; Van Hoorebeke L; De Paepe A; Kwon RY; Weis M; Eyre DR; Willaert A; Coucke PJ
J Bone Miner Res; 2016 Nov; 31(11):1930-1942. PubMed ID: 27541483
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
Schwarze U; Cundy T; Pyott SM; Christiansen HE; Hegde MR; Bank RA; Pals G; Ankala A; Conneely K; Seaver L; Yandow SM; Raney E; Babovic-Vuksanovic D; Stoler J; Ben-Neriah Z; Segel R; Lieberman S; Siderius L; Al-Aqeel A; Hannibal M; Hudgins L; McPherson E; Clemens M; Sussman MD; Steiner RD; Mahan J; Smith R; Anyane-Yeboa K; Wynn J; Chong K; Uster T; Aftimos S; Sutton VR; Davis EC; Kim LS; Weis MA; Eyre D; Byers PH
Hum Mol Genet; 2013 Jan; 22(1):1-17. PubMed ID: 22949511
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Defects in the biochemistry of collagen in diseases of connective tissue.
Uitto J; Lichtenstein JR
J Invest Dermatol; 1976 Feb; 66(02):59-79. PubMed ID: 1448
[TBL] [Abstract][Full Text] [Related]
8. Molecular insights into prolyl and lysyl hydroxylation of fibrillar collagens in health and disease.
Gjaltema RA; Bank RA
Crit Rev Biochem Mol Biol; 2017 Feb; 52(1):74-95. PubMed ID: 28006962
[TBL] [Abstract][Full Text] [Related]
9. Dominantly inherited osteogenesis imperfecta in man: an examination of collagen biosynthesis.
Lancaster G; Goldman H; Scriver CR; Gold RJ; Wong I
Pediatr Res; 1975 Feb; 9(2):83-8. PubMed ID: 1118195
[TBL] [Abstract][Full Text] [Related]
10. Pyridinium cross-links in bone of patients with osteogenesis imperfecta: evidence of a normal intrafibrillar collagen packing.
Bank RA; Tekoppele JM; Janus GJ; Wassen MH; Pruijs HE; Van der Sluijs HA; Sakkers RJ
J Bone Miner Res; 2000 Jul; 15(7):1330-6. PubMed ID: 10893681
[TBL] [Abstract][Full Text] [Related]
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. Compositional analysis of collagen from patients with diverse forms of osteogenesis imperfecta.
Kirsch E; Krieg T; Nerlich A; Remberger K; Meinecke P; Kunze D; Müller PK
Calcif Tissue Int; 1987 Jul; 41(1):11-7. PubMed ID: 3113698
[TBL] [Abstract][Full Text] [Related]
13. Hydroxylation of collagen type I: evidence that both lysyl and prolyl residues are overhydroxylated in osteogenesis imperfecta.
Lehmann HW; Rimek D; Bodo M; Brenner RE; Vetter U; Wörsdörfer O; Karbowski A; Müller PK
Eur J Clin Invest; 1995 May; 25(5):306-10. PubMed ID: 7628516
[TBL] [Abstract][Full Text] [Related]
14.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
15.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
16.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
17.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
18.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]