BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

337 related articles for article (PubMed ID: 21282188)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 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. 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. 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]  

  • 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. 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. 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]  

  • 11. An additional function of the rough endoplasmic reticulum protein complex prolyl 3-hydroxylase 1·cartilage-associated protein·cyclophilin B: the CXXXC motif reveals disulfide isomerase activity in vitro.
    Ishikawa Y; Bächinger HP
    J Biol Chem; 2013 Nov; 288(44):31437-46. PubMed ID: 24043621
    [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. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Characterization of PPIB interaction in the P3H1 ternary complex and implications for its pathological mutations.
    Wu J; Zhang W; Xia L; Feng L; Shu Z; Zhang J; Ye W; Zeng N; Zhou A
    Cell Mol Life Sci; 2019 Oct; 76(19):3899-3914. PubMed ID: 30993352
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 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. 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]  

    [Next]    [New Search]
    of 17.