Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Claire Farrington-Rock"'
Autor:
Ann E. Canfield, Kristen D. Hadfield, Laure Sudre, Sarah L. Dallas, Claire Farrington Rock, Raymond P. Boot-Handford, Gillian A. Wallis, Colette A. Inkson
Publikováno v:
Journal of Biological Chemistry. 283:5928-5938
HtrA1 is a secreted multidomain protein with serine protease activity. In light of increasing evidence implicating this protein in the regulation of skeletal development and pathology, we investigated the role of HtrA1 in osteoblast mineralization an
Publikováno v:
American Journal of Medical Genetics Part A. :779-783
We report on a 5-year-old boy with spondylocarpotarsal synostosis (SCT) syndrome who presents with disproportionate short stature, thoracic scoliosis, pes planus, dental enamel hypoplasia, unilateral conductive hearing loss and mild facial dysmorphis
Autor:
Bernard Masri, Leslie M. Thompson, William R. Wilcox, Claire Farrington-Rock, Pavel Krejci, Lisa Salazar, Hervé Prats
Publikováno v:
Journal of Biological Chemistry. 282:2929-2936
Fibroblast growth factors (FGFs) inhibit chondrocyte proliferation via the Erk MAP kinase pathway. Here, we explored the role of protein kinase C in FGF signaling in chondrocytes. Erk activity in FGF2-treated RCS (rat chondrosarcoma) chondrocytes or
Autor:
Carlos A. Bacino, Valérie Cormier-Daire, Patrick Rump, Andrea Superti-Furga, Louise S. Bicknell, Joke B. G. M. Verheij, Deborah Krakow, Daniel H. Cohn, Joelle Roume, Clarisse Baumann, Martine Le Merrer, Ralph S. Lachman, Marc H. Firestein, Elizabeth Sweeney, David L. Rimoin, Claire Farrington-Rock, Stephen P. Robertson
Publikováno v:
Human Mutation, 27(7), 705-710. Wiley
The filamins are a family of cytoplasmic proteins that bind to and organize actin filaments, link membrane proteins to the cytoskeleton, and provide a scaffold for signaling molecules. Mutations in the gene encoding filamin B (FLNB) cause a spectrum
Autor:
Fiona L. Wilkinson, Claire Farrington Rock, J. Vincent Smyth, Anthony M. Heagerty, M. Yvonne Alexander, Ann E. Canfield, Georgina D.M. Collett, John Paul Kirton, Maria Jeziorska
Publikováno v:
Arteriosclerosis, Thrombosis, and Vascular Biology. 25:1851-1857
Objective— Vascular calcification, with its increasing clinical sequelae, presents an important and unresolved dilemma in cardiac and vascular practice. We aimed to identify molecules involved in this process to develop strategies for treatment or
Autor:
Claire Farrington Rock, Darren A. Plumb, Richard Poulsom, Raymond P. Boot-Handford, Danny S. Tuckwell
Publikováno v:
Journal of Biological Chemistry. 278:31067-31077
The type XXVII collagen gene codes for a novel vertebrate fibrillar collagen that is highly conserved in man, mouse, and fish (Fugu rubripes). The pro(alpha)1(XXVII) chain has a domain structure similar to that of the type B clade chains (alpha1(V),
Autor:
Claire Farrington-Rock, Matthew J. Rock, Veneta T. Kirilova, Deborah Krakow, Lisa Dillard-Telm, Alexander D. Borowsky, Daniel H. Cohn, Sara Chalk
Publikováno v:
Human molecular genetics. 17(5)
Spondylocarpotarsal synostosis syndrome (SCT) is an autosomal recessive disease that is characterized by short stature, and fusions of the vertebrae and carpal and tarsal bones. SCT results from homozygosity or compound heterozygosity for nonsense mu
Publikováno v:
Biochemical Society transactions. 35(Pt 4)
HtrA1 (high-temperature requirement protein A1) is a secreted multidomain protein with proven serine protease activity and the ability to regulate TGF-β (transforming growth factor-β)/BMP (bone morphogenetic protein) signalling. There is increasing
Autor:
Louise S. Bicknell, Paolo Prontera, Patrick Rump, Yousef Shafeghati, Deborah Krakow, Stephen P. Robertson, Alan Fryer, Louise C. Wilson, Sheila Unger, Jean-Pierre Fryns, Chong Ae Kim, John Pappas, Helen V. Firth, David L. Rimoin, Claire Farrington-Rock, Ellen Moran, Yasemin Alanay, Daniel H. Cohn, Thomy de Ravel, Melissa Maisenbacher, Elizabeth Sweeney, Ralph S. Lachman, Yves Alembik, Kathryn Leask, Mohammad Hassan Kariminejad, Navid Al-Madani
Publikováno v:
JOURNAL OF MEDICAL GENETICS, 44(2), 89-98. BMJ PUBLISHING GROUP
Bicknell, L S, Farrington-Rock, C, Shafeghati, Y, Rump, P, Alanay, Y, Alembik, Y, Al-Madani, N, Firth, H, Karimi-Nejad, M H, Kim, C A, Leask, K, Maisenbacher, M, Moran, E, Pappas, J G, Prontera, P, de Ravel, T, Fryns, J-P, Sweeney, E, Fryer, A, Unger, S, Wilson, L C, Lachman, R S, Rimoin, D L, Cohn, D H, Krakow, D & Robertson, S P 2007, ' A molecular and clinical study of Larsen syndrome caused by mutations in FLNB ', Journal of Medical Genetics, vol. 44, no. 2, pp. 89-98 . https://doi.org/10.1136/jmg.2006.043687
Bicknell, L S, Farrington-Rock, C, Shafeghati, Y, Rump, P, Alanay, Y, Alembik, Y, Al-Madani, N, Firth, H, Karimi-Nejad, M H, Kim, C A, Leask, K, Maisenbacher, M, Moran, E, Pappas, J G, Prontera, P, de Ravel, T, Fryns, J-P, Sweeney, E, Fryer, A, Unger, S, Wilson, L C, Lachman, R S, Rimoin, D L, Cohn, D H, Krakow, D & Robertson, S P 2007, ' A molecular and clinical study of Larsen syndrome caused by mutations in FLNB ', Journal of Medical Genetics, vol. 44, no. 2, pp. 89-98 . https://doi.org/10.1136/jmg.2006.043687
Background: Larsen syndrome is an autosomal dominant osteochondrodysplasia characterised by large-joint dislocations and craniofacial anomalies. Recently, Larsen syndrome was shown to be caused by missense mutations or small inframe deletions in FLNB
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d11d63a7f2e31be9ed58ff20b5d868bd
https://research.rug.nl/en/publications/9979a21c-a190-4254-960f-7e6348454df3
https://research.rug.nl/en/publications/9979a21c-a190-4254-960f-7e6348454df3
Autor:
David L. Rimoin, Vincent Funari, Mary Ann Priore, Zachary A. Cohn, Eiman Sebald, Claire Farrington-Rock, Amy E. Merrill, Natalia Camacho, Alicia K. Thompson, Deborah Krakow, Daniel H. Cohn, Stanley F. Nelson, Matthew J. Schibler, Marc H. Firestein, Barry Merriman
Publikováno v:
The American Journal of Human Genetics. (4):542-549
The short-rib polydactyly (SRP) syndromes are a heterogeneous group of perinatal lethal skeletal disorders with polydactyly and multisystem organ abnormalities. Homozygosity by descent mapping in a consanguineous SRP family identified a genomic regio