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There are 41993 results for: content related to: Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans

  1. Type I Procollagen C-Propeptide Defects: Study of Genotype–Phenotype Correlation and Predictive Role of Crystal Structure

    Human Mutation

    Volume 35, Issue 11, November 2014, Pages: 1330–1341, Sofie Symoens, David J.S. Hulmes, Jean-Marie Bourhis, Paul J. Coucke, Anne De Paepe and Fransiska Malfait

    Version of Record online : 18 OCT 2014, DOI: 10.1002/humu.22677

  2. Proposed association between the COL1A1 and COL1A2 genes and otosclerosis is not supported by a case-control study in Spain

    American Journal of Medical Genetics Part A

    Volume 128A, Issue 1, 1 July 2004, Pages: 19–22, Laura Rodríguez, Santiago Rodríguez, Juan Hermida, Carlos Frade, Esther Sande, Guillermo Visedo, Carlos Martín and Carlos Zapata

    Version of Record online : 21 APR 2004, DOI: 10.1002/ajmg.a.30074

  3. Interaction of Smad3 with a proximal smad-binding element of the human α2(I) procollagen gene promoter required for transcriptional activation by TGF-β

    Journal of Cellular Physiology

    Volume 183, Issue 3, June 2000, Pages: 381–392, Shu-Jen Chen, Weihua Yuan, Sientay Lo, Maria Trojanowska and John Varga

    Version of Record online : 20 APR 2000, DOI: 10.1002/(SICI)1097-4652(200006)183:3<381::AID-JCP11>3.0.CO;2-O

  4. Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients

    Human Mutation

    Volume 24, Issue 2, August 2004, Pages: 147–154, Heini Hartikka, Kaija Kuurila, Jarmo Körkkö, Ilkka Kaitila, Reidar Grénman, Seppo Pynnönen, James C. Hyland and Leena Ala-Kokko

    Version of Record online : 18 JUN 2004, DOI: 10.1002/humu.20071

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    Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model

    Journal of Bone and Mineral Research

    Volume 25, Issue 2, February 2010, Pages: 247–261, Ethan Daley, Elizabeth A Streeten, John D Sorkin, Natalia Kuznetsova, Sue A Shapses, Stephanie M Carleton, Alan R Shuldiner, Joan C Marini, Charlotte L Phillips, Steven A Goldstein, Sergey Leikin and Daniel J McBride Jr

    Version of Record online : 14 DEC 2009, DOI: 10.1359/jbmr.090720

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    Ethanol and fish oil induce NFκB transactivation of the collagen α2(I) promoter through lipid peroxidation–driven activation of the PKC-PI3K-Akt pathway


    Volume 45, Issue 6, June 2007, Pages: 1433–1445, Natalia Nieto

    Version of Record online : 30 MAY 2007, DOI: 10.1002/hep.21659

  7. Osteogenesis imperfecta: clinical, biochemical and molecular findings

    Clinical Genetics

    Volume 70, Issue 2, August 2006, Pages: 131–139, G Venturi, E Tedeschi, M Mottes, M Valli, M Camilot, S Viglio, F Antoniazzi and L Tatò

    Version of Record online : 7 JUL 2006, DOI: 10.1111/j.1399-0004.2006.00646.x

  8. Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen

    American Journal of Medical Genetics

    Volume 72, Issue 1, 3 October 1997, Pages: 94–105, Peter H. Byers, Madeleine Duvic, Mary Atkinson, Meinhard Robinow, Lynne T. Smith, Stephen M. Krane, Marie T. Greally, Mark Ludman, Reuben Matalon, Susan Pauker, Deborah Quanbeck and Ulrike Schwarze

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19971003)72:1<94::AID-AJMG20>3.0.CO;2-O

  9. Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients

    Pediatrics International


    Version of Record online : 21 JUL 2007, DOI: 10.1111/j.1442-200X.2007.02422.x

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    Pivotal role of connective tissue growth factor in lung fibrosis: MAPK-dependent transcriptional activation of type I collagen

    Arthritis & Rheumatism

    Volume 60, Issue 7, July 2009, Pages: 2142–2155, Markella Ponticos, Alan M. Holmes, Xu Shi-Wen, Patricia Leoni, Korsa Khan, Vineeth S. Rajkumar, Rachel K. Hoyles, George Bou-Gharios, Carol M. Black, Christopher P. Denton, David J. Abraham, Andrew Leask and Gisela E. Lindahl

    Version of Record online : 29 JUN 2009, DOI: 10.1002/art.24620

  11. COL1A2 gene polymorphisms (Pvu II and Rsa I), serum calciotropic hormone levels, and dental fluorosis

    Community Dentistry and Oral Epidemiology

    Volume 36, Issue 6, December 2008, Pages: 517–522, Hui Huang, Yue Ba, Liuxin Cui, Xuemin Cheng, Jingyuan Zhu, Yuling Zhang, Pingping Yan, Cairong Zhu, Briseis Kilfoy and Yawei Zhang

    Version of Record online : 18 FEB 2008, DOI: 10.1111/j.1600-0528.2007.00424.x

  12. Ehlers–Danlos arthrochalasia type (VIIA–B) – expanding the phenotype: from prenatal life through adulthood

    Clinical Genetics

    Volume 82, Issue 2, August 2012, Pages: 121–130, M Klaassens, E Reinstein, Y Hilhorst-Hofstee, JJP Schrander, F Malfait, H Staal, LC ten Have, J Blaauw, HCJ Roggeveen, D Krakow, A De Paepe, MAM van Steensel, G Pals, JM Graham and CTRM Schrander-Stumpel

    Version of Record online : 24 AUG 2011, DOI: 10.1111/j.1399-0004.2011.01758.x

  13. Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 3, 15 August 2012, Pages: 175–189, Marianne Rohrbach and Cecilia Giunta

    Version of Record online : 12 JUL 2012, DOI: 10.1002/ajmg.c.31334

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    Selective expression of connective tissue growth factor in fibroblasts in vivo promotes systemic tissue fibrosis

    Arthritis & Rheumatism

    Volume 62, Issue 5, May 2010, Pages: 1523–1532, Sonali Sonnylal, Xu Shi-Wen, Patricia Leoni, Katherine Naff, Caroline S. Van Pelt, Hiroyuki Nakamura, Andrew Leask, David Abraham, George Bou-Gharios and Benoit de Crombrugghe

    Version of Record online : 8 MAR 2010, DOI: 10.1002/art.27382

  15. You have full text access to this OnlineOpen article
    Failed Degradation of JunB Contributes to Overproduction of Type I Collagen and Development of Dermal Fibrosis in Patients With Systemic Sclerosis

    Arthritis & Rheumatology

    Volume 67, Issue 1, January 2015, Pages: 243–253, Markella Ponticos, Ioannis Papaioannou, Shiwen Xu, Alan M. Holmes, Korsa Khan, Christopher P. Denton, George Bou-Gharios and David J. Abraham

    Version of Record online : 27 DEC 2014, DOI: 10.1002/art.38897

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    Cranial base abnormalities in osteogenesis imperfecta: Phenotypic and genotypic determinants

    Journal of Bone and Mineral Research

    Volume 26, Issue 2, February 2011, Pages: 405–413, Moira S Cheung, Heidi Arponen, Peter Roughley, Michel E Azouz, Francis H Glorieux, Janna Waltimo-Sirén and Frank Rauch

    Version of Record online : 20 JAN 2011, DOI: 10.1002/jbmr.220

  17. Transcriptional activation of the type I collagen genes COL1A1 and COL1A2 in fibroblasts by interleukin-4: Analysis of the functional collagen promoter sequences

    Journal of Cellular Physiology

    Volume 198, Issue 2, February 2004, Pages: 248–258, Cordula Büttner, Annett Skupin and Ernst Peter Rieber

    Version of Record online : 22 AUG 2003, DOI: 10.1002/jcp.10395

  18. Osteogenesis Imperfecta

    Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects, Second Edition

    Peter H. Byers, William G. Cole, Pages: 385–430, 2003

    Published Online : 30 APR 2003, DOI: 10.1002/0471221929.ch8

  19. You have full text access to this OnlineOpen article
    A Novel Role of Annexin A2 in Human Type I Collagen Gene Expression

    Journal of Cellular Biochemistry

    Volume 116, Issue 3, March 2015, Pages: 408–417, Georgia Schäfer, Jessica K. Hitchcock, Tamlyn M. Shaw, Arieh A. Katz and M. Iqbal Parker

    Version of Record online : 20 JAN 2015, DOI: 10.1002/jcb.24989

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    Activation of COL1A2 promoter in human fibroblasts by Escherichia coli

    FEMS Immunology & Medical Microbiology

    Volume 65, Issue 3, August 2012, Pages: 481–487, Haruko Miyazaki, Ryo Kobayashi, Hiroki Ishikawa, Naoki Awano, Satoshi Yamagoe, Yoshitsugu Miyazaki and Tetsuya Matsumoto

    Version of Record online : 18 MAY 2012, DOI: 10.1111/j.1574-695X.2012.00979.x