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    Results: 1 to 20 of 53

    1.

    Clinical and Molecular Analysis in Families With Autosomal Recessive Osteogenesis Imperfecta Identifies Mutations in Five Genes and Suggests Genotype-Phenotype Correlations.

    Caparrós-Martin JA, Valencia M, Pulido V, Martínez-Glez V, Rueda-Arenas I, Amr K, Farra C, Lapunzina P, Ruiz-Perez VL, Temtamy S, Aglan M.

    Am J Med Genet A. 2013 Apr 23. doi: 10.1002/ajmg.a.35938. [Epub ahead of print]

    PMID:
    23613367
    [PubMed - as supplied by publisher]
    2.

    Bone Collagen: New Clues to Its Mineralization Mechanism from Recessive Osteogenesis Imperfecta.

    Eyre DR, Weis MA.

    Calcif Tissue Int. 2013 Mar 19. [Epub ahead of print]

    PMID:
    23508630
    [PubMed - as supplied by publisher]
    3.

    Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene.

    Moul A, Alladin A, Navarrete C, Abdenour G, Rodriguez MM.

    Fetal Pediatr Pathol. 2013 Jan 10. [Epub ahead of print]

    PMID:
    23301918
    [PubMed - as supplied by publisher]
    4.

    Prolyl 3-hydroxylase-1 null mice exhibit hearing impairment and abnormal morphology of the middle ear bone joints.

    Pokidysheva E, Tufa S, Bresee C, Brigande JV, Bächinger HP.

    Matrix Biol. 2013 Jan;32(1):39-44. doi: 10.1016/j.matbio.2012.11.006. Epub 2012 Nov 24.

    PMID:
    23186870
    [PubMed - in process]
    5.

    The collagen prolyl hydroxylases are novel transcriptionally silenced genes in lymphoma.

    Hatzimichael E, Lo Nigro C, Lattanzio L, Syed N, Shah R, Dasoula A, Janczar K, Vivenza D, Monteverde M, Merlano M, Papoudou-Bai A, Bai M, Schmid P, Stebbing J, Bower M, Dyer MJ, Karran LE, ElguetaKarstegl C, Farrell PJ, Thompson A, Briasoulis E, Crook T.

    Br J Cancer. 2012 Oct 9;107(8):1423-32. doi: 10.1038/bjc.2012.380. Epub 2012 Sep 6.

    PMID:
    22955849
    [PubMed - indexed for MEDLINE]
    6.

    Deregulation of Rab and Rab effector genes in bladder cancer.

    Ho JR, Chapeaublanc E, Kirkwood L, Nicolle R, Benhamou S, Lebret T, Allory Y, Southgate J, Radvanyi F, Goud B.

    PLoS One. 2012;7(6):e39469. doi: 10.1371/journal.pone.0039469. Epub 2012 Jun 19.

    PMID:
    22724020
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    7.

    [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 14;66:359-71. Review. Polish.

    PMID:
    22706122
    [PubMed - indexed for MEDLINE]
    Free Article
    8.

    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. doi: 10.1371/journal.pone.0036809. Epub 2012 May 15.

    PMID:
    22615817
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    9.

    Mutation in cyclophilin B that causes hyperelastosis cutis in American Quarter Horse does not affect peptidylprolyl cis-trans isomerase activity but shows altered cyclophilin B-protein interactions and affects collagen folding.

    Ishikawa Y, Vranka JA, Boudko SP, Pokidysheva E, Mizuno K, Zientek K, Keene DR, Rashmir-Raven AM, Nagata K, Winand NJ, Bächinger HP.

    J Biol Chem. 2012 Jun 22;287(26):22253-65. doi: 10.1074/jbc.M111.333336. Epub 2012 May 3.

    PMID:
    22556420
    [PubMed - indexed for MEDLINE]
    10.

    A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta.

    Cabral WA, Barnes AM, Adeyemo A, Cushing K, Chitayat D, Porter FD, Panny SR, Gulamali-Majid F, Tishkoff SA, Rebbeck TR, Gueye SM, Bailey-Wilson JE, Brody LC, Rotimi CN, Marini JC.

    Genet Med. 2012 May;14(5):543-51. doi: 10.1038/gim.2011.44. Epub 2012 Jan 26.

    PMID:
    22281939
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    11.

    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. doi: 10.1002/ajmg.a.34269. Epub 2011 Sep 30.

    PMID:
    21964860
    [PubMed - indexed for MEDLINE]
    12.

    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. doi: 10.1111/j.1399-0004.2011.01794.x. Epub 2011 Oct 19.

    PMID:
    21955071
    [PubMed - indexed for MEDLINE]
    13.

    EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

    van Dijk FS, Byers PH, Dalgleish R, Malfait F, Maugeri A, Rohrbach M, Symoens S, Sistermans EA, Pals G.

    Eur J Hum Genet. 2012 Jan;20(1):11-9. doi: 10.1038/ejhg.2011.141. Epub 2011 Aug 10.

    PMID:
    21829228
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    14.

    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. doi: 10.1007/s00774-011-0284-6. Epub 2011 Jun 14.

    PMID:
    21667357
    [PubMed - indexed for MEDLINE]
    15.

    Type 1 collagenopathy presenting with a Russell-Silver phenotype.

    Parker MJ, Deshpande C, Rankin J, Wilson LC, Balasubramanian M, Hall CM, Wagner BE, Pollitt R, Dalton A, Bishop NJ.

    Am J Med Genet A. 2011 Jun;155A(6):1414-8. doi: 10.1002/ajmg.a.33998. Epub 2011 May 12.

    PMID:
    21567925
    [PubMed - indexed for MEDLINE]
    16.

    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 15;20(8):1595-609. doi: 10.1093/hmg/ddr037. Epub 2011 Jan 31.

    PMID:
    21282188
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    17.

    Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings.

    van Dijk FS, Nikkels PG, den Hollander NS, Nesbitt IM, van Rijn RR, Cobben JM, Pals G.

    Pediatr Dev Pathol. 2011 May-Jun;14(3):228-34. doi: 10.2350/10-03-0806-CR.1. Epub 2010 Oct 14.

    PMID:
    20946018
    [PubMed - indexed for MEDLINE]
    18.

    Genetics of bone diseases: Paget's disease, fibrous dysplasia, osteopetrosis, and osteogenesis imperfecta.

    Michou L, Brown JP.

    Joint Bone Spine. 2011 May;78(3):252-8. doi: 10.1016/j.jbspin.2010.07.010. Epub 2010 Sep 19. Review.

    PMID:
    20855225
    [PubMed - indexed for MEDLINE]
    19.

    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. doi: 10.1002/jbmr.250.

    PMID:
    20839288
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    20.

    [Genetic basis for skeletal disease. Osteogenesis imperfecta and genetic abnormalities].

    Hasegawa K.

    Clin Calcium. 2010 Aug;20(8):1190-5. doi: CliCa100811901195. Review. Japanese.

    PMID:
    20675929
    [PubMed - indexed for MEDLINE]

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