| 1 | CRTAP, OIIX, OIVII, OIVIII, P3H1, PPIB
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| Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective.
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| Gagliardi A, Besio R, Carnemolla C, Landi C, Armini A, Aglan M, Otaify G, Temtamy SA, Forlino A, Bini L, Bianchi L.
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| J Proteomics 167:46-59. doi: 10.1016/j.jprot.2017.08.007. Epub 2017 Aug 9. 2017
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| 2 | CRTAP, OIVII
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| CRTAP variants in early-onset osteoporosis and recurrent fractures.
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| Costantini A, Vuorimies I, Mäkitie R, Mäyränpää MK, Becker J, Pekkinen M, Valta H, Netzer C, Kämpe A, Taylan F, Jiao H, Mäkitie O.
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| Am J Med Genet A 173(3):806-808. doi: 10.1002/ajmg.a.38065. Epub 2016 Nov 30. No abstract available.
2017
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| 3 | CRTAP, OIIX, OIVII, OIVIII, P3H1, PPIB
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| Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.
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| 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.
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| Mol Genet Genomic Med 5(1):28-39. doi: 10.1002/mgg3.257. eCollection 2017 Jan. 2016
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| 4 | CRTAP, OIVII
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| Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix.
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| Valli M, Barnes AM, Gallanti A, Cabral WA, Viglio S, Weis MA, Makareeva E, Eyre D, Leikin S, Antoniazzi F, Marini JC, Mottes M.
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| Clin Genet 82(5):453-9. doi: 10.1111/j.1399-0004.2011.01794.x. Epub 2011 Oct 19.
2012
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| 5 | CRTAP, OIVII
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| Severe osteogenesis imperfecta caused by a small in-frame deletion in CRTAP.
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| Amor IM, Rauch F, Gruenwald K, Weis M, Eyre DR, Roughley P, Glorieux FH, Morello R.
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| Am J Med Genet A 155A(11):2865-70. doi: 10.1002/ajmg.a.34269. Epub 2011 Sep 30.
2011
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| 6 | CRTAP, OIVII
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| Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.
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| Marini JC, Cabral WA, Barnes AM.
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| Cell Tissue Res 339(1):59-70. Epub 2009 Oct 28. Review.PMID: 19862557 2010
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| 7 | CRTAP, OIVII
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| CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII.
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| Fratzl-Zelman N, Morello R, Lee B, Rauch F, Glorieux FH, Misof BM, Klaushofer K, Roschger P.
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| Bone 46(3):820-6. Epub 2009 Nov 4.PMID: 19895918 2010
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| 8 | CRTAP, OIVII, OIVIII, P3H1
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| Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex.
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| Chang W, Barnes AM, Cabral WA, Bodurtha JN, Marini JC.
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| Hum Mol Genet 19(2):223-34. doi: 10.1093/hmg/ddp481. Epub 2009 Oct 21.
2010
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| 9 | CRTAP, LEPRE1, OIVII, OIVIII
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| CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
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| 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.
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| 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
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| 10 | CRTAP, LEPRE1, OIVII, OIVIII
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| CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
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| 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.
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| Hum Mutat 29(12):1435-42.
2008
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| 11 | CRTAP, OIVII
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| CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.
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| 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.
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| Cell 127(2):291-304. 2006
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| 12 | OIVII
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| Osteogenesis imperfecta type VII maps to the short arm of chromosome 3.
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| Labuda M, Morissette J, Ward LM, Rauch F, Lalic L, Roughley PJ, Glorieux FH.
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| Bone 31(1):19-25. 2002
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