| 1 | CRTAP, P3H1, P3H2, P3H3, P3H4
|
| Expression characterization and functional implication of the collagen-modifying Leprecan proteins in mouse gonadal tissue and mature sperm.
|
| Zimmerman SM, Besio R, Heard-Lipsmeyer ME, Dimori M, Castagnola P, Swain FL, Gaddy D, Diekman AB, Morello R.
|
| AIMS Genet 5(1):24-40. doi: 10.3934/genet.2018.1.24. Epub 2018 Feb 7. 2018
|
| 2 | CRTAP, OIIX, OIVII, OIVIII, P3H1, PPIB
|
| Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective.
|
| Gagliardi A, Besio R, Carnemolla C, Landi C, Armini A, Aglan M, Otaify G, Temtamy SA, Forlino A, Bini L, Bianchi L.
|
| J Proteomics 167:46-59. doi: 10.1016/j.jprot.2017.08.007. Epub 2017 Aug 9. 2017
|
| 3 | CRTAP, OIVII
|
| CRTAP variants in early-onset osteoporosis and recurrent fractures.
|
| Costantini A, Vuorimies I, Mäkitie R, Mäyränpää MK, Becker J, Pekkinen M, Valta H, Netzer C, Kämpe A, Taylan F, Jiao H, Mäkitie O.
|
| Am J Med Genet A 173(3):806-808. doi: 10.1002/ajmg.a.38065. Epub 2016 Nov 30. No abstract available.
2017
|
| 4 | CRTAP, OIIX, OIVII, OIVIII, P3H1, PPIB
|
| Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.
|
| Caparros-Martin JA, Aglan MS, Temtamy S, Otaify GA, Valencia M, Nevado J, Vallespin E, Del Pozo A, Prior de Castro C, Calatrava-Ferreras L, Gutierrez P, Bueno AM, Sagastizabal B, Guillen-Navarro E, Ballesta-Martinez M, Gonzalez V, Basaran SY, Buyukoglan R, Sarikepe B, Espinoza-Valdez C, Cammarata-Scalisi F, Martinez-Glez V, Heath KE, Lapunzina P, Ruiz-Perez VL.
|
| Mol Genet Genomic Med 5(1):28-39. doi: 10.1002/mgg3.257. eCollection 2017 Jan. 2016
|
| 5 | CRTAP, P3H1, PPIB
|
| 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 14(4):15848-58. doi: 10.4238/2015.December.1.36.
2015
|
| 6 | CRTAP, P3H1
|
| 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 10(1):e1004121. doi: 10.1371/journal.pgen.1004121. Epub 2014 Jan 23. Erratum in: PLoS Genet. 2014 Jun;10(6):e1004473.
2014
|
| 7 | CRTAP, P3H1, P3H2, P3H3, P3H4
|
| Sc65 is a novel endoplasmic reticulum protein that regulates bone mass homeostasis.
|
| Gruenwald K, Castagnola P, Besio R, Dimori M, Chen Y, Akel NS, Swain FL, Skinner RA, Eyre DR, Gaddy D, Suva LJ, Morello R.
|
| J Bone Miner Res 29(3):666-75. doi: 10.1002/jbmr.2075.
2014
|
| 8 | CRTAP, P3H1
|
| Collagen prolyl 3-hydroxylation: a major role for a minor post-translational modification?
|
| Hudson DM, Eyre DR.
|
| Connect Tissue Res 54(4-5):245-51. doi: 10.3109/03008207.2013.800867. Epub 2013 Jun 21. Review.
2013
|
| 9 | CRTAP, P3H1, P3H2, P3H3
|
| 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 288(44):31437-46. doi: 10.1074/jbc.M113.498063. Epub 2013 Sep 16. 2013
|
| 10 | CRTAP, OIVII
|
| 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 82(5):453-9. doi: 10.1111/j.1399-0004.2011.01794.x. Epub 2011 Oct 19.
2012
|
| 11 | CRTAP, OIVII
|
| 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 155A(11):2865-70. doi: 10.1002/ajmg.a.34269. Epub 2011 Sep 30.
2011
|
| 12 | CRTAP, OIVII
|
| Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.
|
| Marini JC, Cabral WA, Barnes AM.
|
| Cell Tissue Res 339(1):59-70. Epub 2009 Oct 28. Review.PMID: 19862557 2010
|
| 13 | CRTAP, OIVII
|
| CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII.
|
| Fratzl-Zelman N, Morello R, Lee B, Rauch F, Glorieux FH, Misof BM, Klaushofer K, Roschger P.
|
| Bone 46(3):820-6. Epub 2009 Nov 4.PMID: 19895918 2010
|
| 14 | CRTAP, OIVII, OIVIII, P3H1
|
| 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 19(2):223-34. doi: 10.1093/hmg/ddp481. Epub 2009 Oct 21.
2010
|
| 15 | CRTAP, LEPRE1, OIVII, OIVIII
|
| 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 17(12):1560-9. Epub 2009 Jun 24. Erratum in: Eur J Hum Genet. 2009 Dec;17(12):1692. PMID: 19550437 2009
|
| 16 | CRTAP, LEPRE1, OIVII, OIVIII
|
| 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 29(12):1435-42.
2008
|
| 17 | CRTAP, OIVII
|
| 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, Bachinger HP, Pace JM, Schwarze U, Byers PH, Weis M, Fernandes RJ, Eyre DR, Yao Z, Boyce BF, Lee B.
|
| Cell 127(2):291-304. 2006
|
| 18 | CRTAP, CYTH1, CYTH3, CYTIP
|
| The N-terminal coiled coil domain of the cytohesin/ARNO family of guanine nucleotide exchange factors interacts with the scaffolding protein CASP.
|
| Mansour M, Lee SY, Pohajdak B.
|
| J Biol Chem 277(35):32302-9. Epub 2002 Jun 6. 2002
|
| 19 | CRTAP
|
| cDNA cloning, characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP).
|
| Tonachini L, Morello R, Monticone M, Skaug J, Scherer SW, Cancedda R, Castagnola P.
|
| Cytogenet Cell Genet 87(3-4):191-194. 1999
|