Zobrazeno 1 - 10
of 16
pro vyhledávání: '"M Helen Rajpar"'
Publikováno v:
PLoS ONE, Vol 10, Iss 2, p e0117016 (2015)
Mutations in genes encoding cartilage oligomeric matrix protein and matrilin-3 cause a spectrum of chondrodysplasias called multiple epiphyseal dysplasia (MED) and pseudoachondroplasia (PSACH). The majority of these diseases feature classical endopla
Externí odkaz:
https://doaj.org/article/dd5c17f983e44dffa4ba9f6b5e564e6c
Autor:
Trevor L Cameron, Katrina M Bell, Liliana Tatarczuch, Eleanor J Mackie, M Helen Rajpar, Ben T McDermott, Raymond P Boot-Handford, John F Bateman
Publikováno v:
PLoS ONE, Vol 6, Iss 9, p e24600 (2011)
Metaphyseal chondrodysplasia, Schmid type (MCDS) is characterized by mild short stature and growth plate hypertrophic zone expansion, and caused by collagen X mutations. We recently demonstrated the central importance of ER stress in the pathology of
Externí odkaz:
https://doaj.org/article/f14e4edc89bb4cd0851d1139fa726847
Autor:
M Helen Rajpar, Ben McDermott, Louise Kung, Rachel Eardley, Lynette Knowles, Mel Heeran, David J Thornton, Richard Wilson, John F Bateman, Richard Poulsom, Peter Arvan, Karl E Kadler, Michael D Briggs, Raymond P Boot-Handford
Publikováno v:
PLoS Genetics, Vol 5, Iss 10, p e1000691 (2009)
Pathologies caused by mutations in extracellular matrix proteins are generally considered to result from the synthesis of extracellular matrices that are defective. Mutations in type X collagen cause metaphyseal chondrodysplasia type Schmid (MCDS), a
Externí odkaz:
https://doaj.org/article/7462bf70f27043b287d249eb89c6cc09
Autor:
Kenneth M. Kozloff, Basma Khoury, Aileen M. Barnes, Stéphane Blouin, Klaus Klaushofer, M. Helen Rajpar, Paul Roschger, Nadja Fratzl-Zelman, Joan C. Marini, Joseph E. Perosky, David R. Eyre, MaryAnn Weis
Publikováno v:
Bone Abstracts.
Autor:
Peter Arvan, Benedetta Gualeni, M. Helen Rajpar, Michael D. Briggs, Aaron P. Kellogg, Raymond P. Boot-Handford, Peter A. Bell
Publikováno v:
Disease Models & Mechanisms, Vol 6, Iss 6, Pp 1414-1425 (2013)
Disease Models & Mechanisms
Disease Models & Mechanisms
SummaryDisease mechanisms leading to different forms of chondrodysplasia include extracellular matrix (ECM) alterations and intracellular stress resulting in abnormal changes to chondrocyte proliferation and survival. Delineating the relative contrib
Autor:
Aileen M. Barnes, Paul Roschger, Basma Khoury, Joan C. Marini, Stéphane Blouin, M. Helen Rajpar, Nadja Fratzl-Zelman, Klaus Klaushofer, Kenneth M. Kozloff, Joseph E. Perosky
Publikováno v:
Bone Abstracts.
Publikováno v:
Journal of Histochemistry and Cytochemistry
Mutations causing metaphyseal chondrodysplasia type Schmid (MCDS) (e.g., Col10a1p.N617K) induce the pathology by a mechanism involving increased endoplasmic reticulum (ER) stress triggering an unfolded protein response (UPR) in hypertrophic chondrocy
Autor:
Omar M.E. Albagha, Andrew Arnold, Paul Baldock, Mary L. Bouxsein, Brendan F. Boyce, Stephanie Jo Brewster, Edward M. Brown, Matthew A. Brown, David A. Bushinsky, Salin A. Chakkalakal, Roderick Clifton-Bligh, William G. Cole, Michael T. Collins, Michael R. Convente, Jessica Costa-Guda, Andria L. Culbert, Hong-Wen Deng, Olivier Devuyst, Marc K. Drezner, Emma L. Duncan, Ogo I. Egbuna, John A. Eisman, David Feldman, Mathieu Ferron, Matti Gild, Yan Guo, Kilian Guse, Ingrid A. Holm, Bryan Hudson, Takashi Igarashi, Christina Jacobsen, Harald Jüppner, Frederick S. Kaplan, Gerard Karsenty, Christopher S. Kovacs, Brendan Lee, Gabriela G. Loots, Rik J. Lories, Vitali Y. Lounev, Frank P. Luyten, Peter J. Malloy, Joan C. Marini, T. John Martin, Walter L. Miller, Orson W. Moe, Tuan V. Nguyen, Franck Oury, Christopher J. Papasian, Dhruval Patel, Bram Perdu, Siân E. Piret, M. Helen Rajpar, Stuart H Ralston, Fernando Rivadeneira, Bruce G Robinson, Merry ZC Ruan, Steven J. Scheinman, Scott J. Schurman, Yiping Shen, Eileen M. Shore, Caroline Silve, Natalie A. Sims, Anil Singh, Allen M. Spiegel, Rajesh V. Thakker, André G. Uitterlinden, Ana M. Valdes, Wim Van Hul, Lee S. Weinstein, Michael P. Whyte, Lianping Xing, Tie-Lin Yang, Michael J. Zuscik
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::de4f2f36f1ae9aca4e4d992969e23176
https://doi.org/10.1016/b978-0-12-387829-8.00041-x
https://doi.org/10.1016/b978-0-12-387829-8.00041-x
Autor:
Raymond P. Boot-Handford, M. Helen Rajpar, Christopher Clowes, Michael D. Briggs, David J. Thornton, Peter A. Bell, Leo A. H. Zeeff, Seema Nundlall, Benjamin Gardner
Publikováno v:
Cell Stress & Chaperones
Multiple epiphyseal dysplasia (MED) can result from mutations in matrilin-3, a structural protein of the cartilage extracellular matrix. We have previously shown that in a mouse model of MED the tibia growth plates were normal at birth but developed
Autor:
Rachel Eardley, Louise H. W. Kung, Richard Poulsom, Mel Heeran, Lynnette Knowles, John F. Bateman, Michael D. Briggs, Raymond P. Boot-Handford, M. Helen Rajpar, Ben T. McDermott, Peter Arvan, Richard Wilson, Karl E. Kadler, David J. Thornton
Publikováno v:
Rajpar, M H, McDermott, B, Kung, L, Eardley, R, Knowles, L, Heeran, M, Thornton, D J, Wilson, R, Bateman, J F, Poulsom, R, Arvan, P, Kadler, K E, Briggs, M D & Boot-Handford, R P 2009, ' Targeted induction of endoplasmic reticulum stress induces cartilage pathology ', PL o S Genetics, vol. 5, no. 10, e1000691 . https://doi.org/10.1371/journal.pgen.1000691
PLoS Genetics
PLoS Genetics, Vol 5, Iss 10, p e1000691 (2009)
PLoS Genetics
PLoS Genetics, Vol 5, Iss 10, p e1000691 (2009)
Pathologies caused by mutations in extracellular matrix proteins are generally considered to result from the synthesis of extracellular matrices that are defective. Mutations in type X collagen cause metaphyseal chondrodysplasia type Schmid (MCDS), a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6820740417420de975724f13aaac4d58
https://doi.org/10.1371/journal.pgen.1000691
https://doi.org/10.1371/journal.pgen.1000691