Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Claire L Hartley"'
Autor:
Katarzyna A Piróg, Ella P Dennis, Claire L Hartley, Robert M Jackson, Jamie Soul, Jean-Marc Schwartz, John F Bateman, Raymond P Boot-Handford, Michael D Briggs
Publikováno v:
PLoS Genetics, Vol 15, Iss 7, p e1008215 (2019)
The unfolded protein response (UPR) is a conserved cellular response to the accumulation of proteinaceous material in endoplasmic reticulum (ER), active both in health and disease to alleviate cellular stress and improve protein folding. Multiple epi
Externí odkaz:
https://doaj.org/article/01650fe1a5954ca4a1d86bc01e39d7f1
Autor:
Katherine V. Sadler, Charlie F. Rowlands, Philip T. Smith, Claire L. Hartley, Naomi L. Bowers, Nicola Y. Roberts, Jade L. Harris, Andrew J. Wallace, D. Gareth Evans, Ludwine M. Messiaen, Miriam J. Smith
Publikováno v:
Human Mutation. 43:643-654
Missense variants in the NF2 gene result in variable NF2 disease presentation. Clinical classification of missense variants often represents a challenge, due to lack of evidence for pathogenicity and function. This study provides a summary of NF2 mis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::099e3594389d642b306ea5ddadb14c36
https://doi.org/10.1002/humu.24370
https://doi.org/10.1002/humu.24370
Autor:
Sarah M. Edwards, Michael D. Briggs, Claire L. Hartley, Raymond P. Boot‐Handford, Dimitra Tsompani, Anna Teti, Katarzyna A. Piróg, Mattia Capulli, Robert M. Jackson, Ella P. Dennis, David Young
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::67ed5d1a102a484308de6358d3f8e380
https://doi.org/10.1002/jbmr.4010/v2/response1
https://doi.org/10.1002/jbmr.4010/v2/response1
Autor:
Raymond P. Boot-Handford, Ella P. Dennis, Robert M. Jackson, Katarzyna A. Piróg, Michael D. Briggs, Dimitra Tsompani, Sarah M. Edwards, Anna Teti, Claire L. Hartley, Mattia Capulli, David Young
Publikováno v:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchReferences. 35(8)
Cysteine-rich with epidermal growth factor (EGF)-like domains 2 (CRELD2) is an endoplasmic reticulum (ER)-resident chaperone highly activated under ER stress in conditions such as chondrodysplasias; however, its role in healthy skeletal development i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c33c2e1a91db541903f247b5c2d90a3b
https://pubmed.ncbi.nlm.nih.gov/32181934
https://pubmed.ncbi.nlm.nih.gov/32181934
Autor:
D Gareth, Evans, Claire L, Hartley, Philip T, Smith, Andrew T, King, Naomi L, Bowers, Simon, Tobi, Andrew J, Wallace, Mary, Perry, Raji, Anup, Simon K W, Lloyd, Scott A, Rutherford, Charlotte, Hammerbeck-Ward, Omar N, Pathmanaban, Emma, Stapleton, Simon R, Freeman, Mark, Kellett, Dorothy, Halliday, Allyson, Parry, Juliette J, Gair, Patrick, Axon, Roger, Laitt, Owen, Thomas, Shazia K, Afridi, Rupert, Obholzer, Chris, Duff, Stavros M, Stivaros, Grace, Vassallo, Elaine F, Harkness, Miriam J, Smith
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 22(1)
To evaluate the incidence of mosaicism in de novo neurofibromatosis 2 (NF2).Patients fulfilling NF2 criteria, but with no known affected family member from a previous generation (n = 1055), were tested for NF2 variants in lymphocyte DNA and where ava
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4180806d99a2fcb91a0ac5e93f02c147
https://pubmed.ncbi.nlm.nih.gov/31273341
https://pubmed.ncbi.nlm.nih.gov/31273341
Autor:
Katarzyna A, Piróg, Ella P, Dennis, Claire L, Hartley, Robert M, Jackson, Jamie, Soul, Jean-Marc, Schwartz, John F, Bateman, Raymond P, Boot-Handford, Michael D, Briggs
Publikováno v:
PLoS Genetics
The unfolded protein response (UPR) is a conserved cellular response to the accumulation of proteinaceous material in endoplasmic reticulum (ER), active both in health and disease to alleviate cellular stress and improve protein folding. Multiple epi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f51f448cdd0fdb02dd06137be355e3b1
https://pubmed.ncbi.nlm.nih.gov/31260448
https://pubmed.ncbi.nlm.nih.gov/31260448
Autor:
Michael D. Briggs, Claire L. Hartley, Peter A. Bell, Maryline Fresquet, Sarah M. Edwards, Lorna Mullan, Raymond P. Boot-Handford
Publikováno v:
Human Molecular Genetics
Mutant matrilin-3 (V194D) forms non-native disulphide bonded aggregates in the rER of chondrocytes from cell and mouse models of multiple epiphyseal dysplasia (MED). Intracellular retention of mutant matrilin-3 causes endoplasmic reticulum (ER) stres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f669d05c21f225bee63468d28a8cf74
https://doi.org/10.1093/hmg/ddt383
https://doi.org/10.1093/hmg/ddt383
Autor:
Sebastian Kalamajski, H. Rosemarie Davidson, A. Belinda Campos-Xavier, Eugênia Ribeiro Valadares, Goranka Tanackovich, Andrea Superti-Furga, Christine Hall, Daniel H. Cohn, Massimiliano Rossi, Generoso Andria, R. Curtis Rogers, Shiro Ikegawa, Diana Ballhausen, André Mégarbané, Michael D. Briggs, Sheila Unger, David L. Rimoin, Claire L. Hartley, Rainer König, Richard H Scott, Luisa Bonafé, Ralph S. Lachman, Eric D. Boyden, John F. Bateman, Pierre-Simon Jouk, Geert Mortier, Philippe Suarez, Trevor L. Cameron, Matthew L. Warman, Hirotake Sawada, Gen Nishimura
Publikováno v:
American journal of human genetics
The American journal of human genetics
The American journal of human genetics
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (lepto-SEMDJL, aka SEMDJL, Hall type), is an autosomal dominant skeletal disorder that, in spite of being relatively common among skeletal dysplasias, has eluded molecular elucida
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17693705418a6f70813311e158a09507
https://doi.org/10.1016/j.ajhg.2011.10.016
https://doi.org/10.1016/j.ajhg.2011.10.016
Autor:
Richard McCulloch, Claire L. Hartley
Publikováno v:
Molecular Microbiology
Antigenic variation in Trypanosoma brucei has selected for the evolution of a massive archive of silent Variant Surface Glycoprotein (VSG) genes, which are activated by recombination into specialized expression sites. Such VSG switching can occur at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eeeacab087234bfbaaa3dbe410a5881a
http://europepmc.org/articles/PMC2408642
http://europepmc.org/articles/PMC2408642
Autor:
Jennifer Henchliffe, Simon C Ramsden, Peter J. Barry, Alex Horsley, Claire L. Hartley, Simon Tobi, H. Green, Joanna Brock
Publikováno v:
Journal of Cystic Fibrosis. 15:e50-e51
a Genomic Diagnostics Laboratory, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Oxford Road, Manchester M13 9WL, UK b Manchester Adult Cystic Fibrosis Centre, University Hosp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1fd7266bfc6e91ab5bafca48f2619af
https://doi.org/10.1016/j.jcf.2016.03.003
https://doi.org/10.1016/j.jcf.2016.03.003