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There are 6401 results for: content related to: Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1

  1. Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 16, 15 August 2008, Pages: 2116–2121, Sofia Douzgou, Katarina Lehmann, Rita Mingarelli, Stefan Mundlos and Bruno Dallapiccola

    Version of Record online : 15 JUL 2008, DOI: 10.1002/ajmg.a.32435

  2. Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C

    American Journal of Medical Genetics Part A

    Volume 167, Issue 7, July 2015, Pages: 1621–1626, Mohammad M. Al-Qattan, Muhammed I. Al-Motairi and Mohammed A. Al Balwi

    Version of Record online : 28 MAR 2015, DOI: 10.1002/ajmg.a.37040

  3. The mutational spectrum of brachydactyly type C

    American Journal of Medical Genetics

    Volume 112, Issue 3, 15 October 2002, Pages: 291–296, David B. Everman, Cynthia F. Bartels, Yue Yang, Niranjan Yanamandra, Frances R. Goodman, J. Roberto Mendoza-Londono, Ravi Savarirayan, Susan M. White, John M. Graham Jr., Robert Peter Gale, Eva Svarch, William G. Newman, Albert R. Kleckers, Clair A. Francomano, Vinukonda Govindaiah, Lalji Singh, Stuart Morrison, J. Terrig Thomas and Matthew L. Warman

    Version of Record online : 25 SEP 2002, DOI: 10.1002/ajmg.10777

  4. You have full text access to this Open Access content
    ADAM15 modulates outside-in signalling in chondrocyte–matrix interactions

    Journal of Cellular and Molecular Medicine

    Volume 13, Issue 8b, August 2009, Pages: 2634–2644, Beate B. Böhm, Andrea Schirner and Harald Burkhardt

    Version of Record online : 4 SEP 2008, DOI: 10.1111/j.1582-4934.2008.00490.x

  5. Solution NMR structure of a sheddase inhibitor prodomain from the malarial parasite Plasmodium falciparum

    Proteins: Structure, Function, and Bioinformatics

    Volume 80, Issue 12, December 2012, Pages: 2810–2817, Yanan He, Yihong Chen, Natalia Oganesyan, Biao Ruan, David O'Brochta, Philip N. Bryan and John Orban

    Version of Record online : 16 OCT 2012, DOI: 10.1002/prot.24187

  6. You have free access to this content
    Prodomain-dependent tissue targeting of an ADAMTS protease controls cell migration in Caenorhabditis elegans

    The EMBO Journal

    Volume 26, Issue 11, June 6, 2007, Pages: 2607–2620, Shinji Ihara and Kiyoji Nishiwaki

    Version of Record online : 10 MAY 2007, DOI: 10.1038/sj.emboj.7601718

  7. Conformational analyses of a partially-folded bioactive prodomain of human furin

    Biopolymers

    Volume 86, Issue 4, July 2007, Pages: 329–344, Surajit Bhattacharjya, Ping Xu, Ping Wang, Michael J. Osborne and Feng Ni

    Version of Record online : 3 MAY 2007, DOI: 10.1002/bip.20748

  8. You have full text access to this OnlineOpen article
    Latent myostatin has significant activity and this activity is controlled more efficiently by WFIKKN1 than by WFIKKN2

    The FEBS Journal

    Volume 280, Issue 16, August 2013, Pages: 3822–3839, György Szláma, Mária Trexler and László Patthy

    Version of Record online : 5 JUL 2013, DOI: 10.1111/febs.12377

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    The prodomain of the Bordetella two-partner secretion pathway protein FhaB remains intracellular yet affects the conformation of the mature C-terminal domain

    Molecular Microbiology

    Volume 86, Issue 4, November 2012, Pages: 988–1006, Christopher R. Noël, Joseph Mazar, Jeffrey A. Melvin, Jessica A. Sexton and Peggy A. Cotter

    Version of Record online : 5 OCT 2012, DOI: 10.1111/mmi.12036

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    Mechanisms of digit formation: Human malformation syndromes tell the story

    Developmental Dynamics

    Volume 240, Issue 5, May 2011, Pages: 990–1004, Sigmar Stricker and Stefan Mundlos

    Version of Record online : 18 FEB 2011, DOI: 10.1002/dvdy.22565

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    The Prodomain of Toxoplasma gondii GPI-Anchored Subtilase TgSUB1 Mediates its Targeting to Micronemes

    Traffic

    Volume 9, Issue 9, September 2008, Pages: 1485–1496, Emily M. Binder, Vanessa Lagal and Kami Kim

    Version of Record online : 4 JUN 2008, DOI: 10.1111/j.1600-0854.2008.00774.x

  12. The brachydactylies: a molecular disease family

    Clinical Genetics

    Volume 76, Issue 2, August 2009, Pages: 123–136, S Mundlos

    Version of Record online : 24 SEP 2009, DOI: 10.1111/j.1399-0004.2009.01238.x

  13. You have free access to this content
    pH-induced conformational transitions of a molten–globule–like state of the inhibitory prodomain of furin: Implications for zymogen activation

    Protein Science

    Volume 10, Issue 5, May 2001, Pages: 934–942, Surajit Bhattacharjya, Ping Xu, Hui Xiang, Michel Chrétien, Nabil G. Seidah and Feng Ni

    Version of Record online : 31 DEC 2008, DOI: 10.1110/ps.41301

  14. You have free access to this content
    Detection of a latent soluble form of membrane type 1 matrix metalloprotease bound with tissue inhibitor of matrix metalloproteinases-2 in periprosthetic tissues and fluids from loose arthroplasty endoprostheses

    The FEBS Journal

    Volume 280, Issue 24, December 2013, Pages: 6541–6555, Anna Niarakis, Eleftheria Giannopoulou, Panagiota Ravazoula, Elias Panagiotopoulos, Ioannis K. Zarkadis and Alexios J. Aletras

    Version of Record online : 25 OCT 2013, DOI: 10.1111/febs.12555

  15. Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene

    American Journal of Medical Genetics Part A

    Volume 138A, Issue 4, 1 November 2005, Pages: 379–383, K. Szczaluba, K. Hilbert, E. Obersztyn, B. Zabel, T. Mazurczak and K. Kozlowski

    Version of Record online : 12 OCT 2005, DOI: 10.1002/ajmg.a.30969

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    N-cadherin prodomain cleavage regulates synapse formation in vivo

    Developmental Neurobiology

    Volume 69, Issue 8, July 2009, Pages: 518–529, Nazlie S. Latefi, Liliana Pedraza, Anne Schohl, Ziwei Li and Edward S. Ruthazer

    Version of Record online : 13 APR 2009, DOI: 10.1002/dneu.20718

  17. TGF-β signaling in human skeletal and patterning disorders

    Birth Defects Research Part C: Embryo Today: Reviews

    Volume 69, Issue 4, December 2003, Pages: 333–351, Rosa Serra and Chenbei Chang

    Version of Record online : 16 DEC 2003, DOI: 10.1002/bdrc.10023

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    Structural and functional diversity of metalloproteinases encoded by the Bacteroides fragilis pathogenicity island

    The FEBS Journal

    Volume 281, Issue 11, June 2014, Pages: 2487–2502, Sergey A. Shiryaev, Alexander E. Aleshin, Norihito Muranaka, Muskan Kukreja, David A. Routenberg, Albert G. Remacle, Robert C. Liddington, Piotr Cieplak, Igor A. Kozlov and Alex Y. Strongin

    Version of Record online : 22 APR 2014, DOI: 10.1111/febs.12804

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    Interactions between mature Der p 1 and its free prodomain indicate membership of a new family of C1 peptidases

    Allergy

    Volume 62, Issue 11, November 2007, Pages: 1302–1309, J. Zhang, J. M. Hamilton, D. R. Garrod and C. Robinson

    Version of Record online : 4 OCT 2007, DOI: 10.1111/j.1398-9995.2007.01492.x

  20. A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 17, 1 September 2006, Pages: 1846–1853, Xu Wang, Fuying Xiao, Qinbo Yang, Bo Liang, Zhaohui Tang, Linbin Jiang, Qihui Zhu, Wei Chang, Jiuxi Jiang, Chuanming Jiang, Xiang Ren, Jing-Yu Liu, Qing K. Wang and Mugen Liu

    Version of Record online : 4 AUG 2006, DOI: 10.1002/ajmg.a.31372