344 related articles for article (PubMed ID: 18566967)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
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]
8. The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.
Zhang ZL; Zhang H; Ke YH; Yue H; Xiao WJ; Yu JB; Gu JM; Hu WW; Wang C; He JW; Fu WZ
J Bone Miner Metab; 2012 Jan; 30(1):69-77. PubMed ID: 21667357
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive
Zhytnik L; Duy BH; Eekhoff M; Wisse L; Pals G; Reimann E; Kõks S; Märtson A; Maugeri A; Maasalu K; Micha D
Genes (Basel); 2022 Feb; 13(3):. PubMed ID: 35327962
[TBL] [Abstract][Full Text] [Related]
12. Severe osteogenesis imperfecta in cyclophilin B-deficient mice.
Choi JW; Sutor SL; Lindquist L; Evans GL; Madden BJ; Bergen HR; Hefferan TE; Yaszemski MJ; Bram RJ
PLoS Genet; 2009 Dec; 5(12):e1000750. PubMed ID: 19997487
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
Bodian DL; Chan TF; Poon A; Schwarze U; Yang K; Byers PH; Kwok PY; Klein TE
Hum Mol Genet; 2009 Feb; 18(3):463-71. PubMed ID: 18996919
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. [Genetic basis for skeletal disease. Osteogenesis imperfecta and genetic abnormalities].
Hasegawa K
Clin Calcium; 2010 Aug; 20(8):1190-5. PubMed ID: 20675929
[TBL] [Abstract][Full Text] [Related]
19. A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta.
Takagi M; Ishii T; Barnes AM; Weis M; Amano N; Tanaka M; Fukuzawa R; Nishimura G; Eyre DR; Marini JC; Hasegawa T
PLoS One; 2012; 7(5):e36809. PubMed ID: 22615817
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]