337 related articles for article (PubMed ID: 17192541)
1. 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]
2. 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]
3. CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
Van Dijk FS; Nesbitt IM; Nikkels PG; Dalton A; Bongers EM; van de Kamp JM; Hilhorst-Hofstee Y; Den Hollander NS; Lachmeijer AM; Marcelis CL; Tan-Sindhunata GM; van Rijn RR; Meijers-Heijboer H; Cobben JM; Pals G
Eur J Hum Genet; 2009 Dec; 17(12):1560-9. PubMed ID: 19550437
[TBL] [Abstract][Full Text] [Related]
4. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.
Cabral WA; Chang W; Barnes AM; Weis M; Scott MA; Leikin S; Makareeva E; Kuznetsova NV; Rosenbaum KN; Tifft CJ; Bulas DI; Kozma C; Smith PA; Eyre DR; Marini JC
Nat Genet; 2007 Mar; 39(3):359-65. PubMed ID: 17277775
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. Genetic Analysis, Phenotypic Spectrum and Functional Study of Rare Osteogenesis Imperfecta Caused by CRTAP Variants.
Zhou B; Gao P; Hu J; Lin X; Sun L; Zhang Q; Jiang Y; Wang O; Xia W; Xing X; Li M
J Clin Endocrinol Metab; 2024 Jun; 109(7):1803-1813. PubMed ID: 38214665
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.
Pyott SM; Schwarze U; Christiansen HE; Pepin MG; Leistritz DF; Dineen R; Harris C; Burton BK; Angle B; Kim K; Sussman MD; Weis M; Eyre DR; Russell DW; McCarthy KJ; Steiner RD; Byers PH
Hum Mol Genet; 2011 Apr; 20(8):1595-609. PubMed ID: 21282188
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. [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]
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. Differential effects of collagen prolyl 3-hydroxylation on skeletal tissues.
Homan EP; Lietman C; Grafe I; Lennington J; Morello R; Napierala D; Jiang MM; Munivez EM; Dawson B; Bertin TK; Chen Y; Lua R; Lichtarge O; Hicks J; Weis MA; Eyre D; Lee BH
PLoS Genet; 2014 Jan; 10(1):e1004121. PubMed ID: 24465224
[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. Sclerostin Antibody Treatment Improves the Bone Phenotype of Crtap(-/-) Mice, a Model of Recessive Osteogenesis Imperfecta.
Grafe I; Alexander S; Yang T; Lietman C; Homan EP; Munivez E; Chen Y; Jiang MM; Bertin T; Dawson B; Asuncion F; Ke HZ; Ominsky MS; Lee B
J Bone Miner Res; 2016 May; 31(5):1030-40. PubMed ID: 26716893
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
