المؤلفون: Dodd, Daniel O, Mechaussier, Sabrina, Yeyati, Patricia L, McPhie, Fraser, Anderson, Jacob R, Khoo, Chen Jing, Shoemark, Amelia, Gupta, Deepesh K, Attard, Thomas, Zariwala, Maimoona A, Legendre, Marie, Bracht, Diana, Wallmeier, Julia, Gui, Miao, Fassad, Mahmoud R, Parry, David A, Tennant, Peter A, Meynert, Alison, Wheway, Gabrielle, Fares-Taie, Lucas, Black, Holly A, Mitri-Frangieh, Rana, Faucon, Catherine, Kaplan, Josseline, Patel, Mitali, McKie, Lisa, Megaw, Roly, Gatsogiannis, Christos, Mohamed, Mai A, Aitken, Stuart, Gautier, Philippe, Reinholt, Finn R, Hirst, Robert A, O'Callaghan, Chris, Heimdal, Ketil, Bottier, Mathieu, Escudier, Estelle, Crowley, Suzanne, Descartes, Maria, Jabs, Ethylin W, Kenia, Priti, Amiel, Jeanne, Bacci, Giacomo Maria, Calogero, Claudia, Palazzo, Viviana, Tiberi, Lucia, Blümlein, Ulrike, Rogers, Andrew, Wambach, Jennifer A, Wegner, Daniel J, Fulton, Anne B, Kenna, Margaret, Rosenfeld, Margaret, Holm, Ingrid A, Quigley, Alan, Hall, Emma A, Murphy, Laura C, Cassidy, Diane M, von Kriegsheim, Alex, Scottish Genomes Partnership16, Genomics England Research Consortium45, Undiagnosed Diseases Network46, Papon, Jean-François, Pasquier, Laurent, Murris, Marlène S, Chalmers, James D, Hogg, Claire, Macleod, Kenneth A, Urquhart, Don S, Unger, Stefan, Aitman, Timothy J, Amselem, Serge, Leigh, Margaret W, Knowles, Michael R, Omran, Heymut, Mitchison, Hannah M, Brown, Alan, Marsh, Joseph A, Welburn, Julie PI, Ti, Shih-Chieh, Horani, Amjad, Rozet, Jean-Michel, Perrault, Isabelle, Mill, Pleasantine

المصدر: Science , 384 (6694) , Article eadf5489. (2024)

مصطلحات موضوعية: Tubulin, Humans, Animals, Microtubules, Mice, Cilia, Axoneme, Centrioles, Ciliopathies, Ciliary Motility Disorders, Protein Isoforms, Mutation

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10192043/2/adf5489_CombinedPDF_v8.pdf; https://discovery.ucl.ac.uk/id/eprint/10192043/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10192043/2/adf5489_CombinedPDF_v8.pdf
https://discovery.ucl.ac.uk/id/eprint/10192043/

المؤلفون: Dodd, Daniel, O, Mechaussier, Sabrina, Yeyati, Patricia, L, Mcphie, Fraser, Anderson, Jacob, R, Khoo, Chen Jing, Shoemark, Amelia, Gupta, Deepesh, K, Attard, Thomas, Zariwala, Maimoona, A, Legendre, Marie, Bracht, Diana, Wallmeier, Julia, Gui, Miao, Fassad, Mahmoud, R, Parry, David, A, Tennant, Peter, A, Meynert, Alison, Wheway, Gabrielle, Fares-Taie, Lucas, Black, Holly, A, Mitri-Frangieh, Rana, Faucon, Catherine, Kaplan, Josseline, Patel, Mitali, Mckie, Lisa, Megaw, Roly, Gatsogiannis, Christos, Mohamed, Mai, A, Aitken, Stuart, Gautier, Philippe, Reinholt, Finn, R, Hirst, Robert, A, O'Callaghan, Chris, Heimdal, Ketil, Bottier, Mathieu, Escudier, Estelle, Crowley, Suzanne, Descartes, Maria, Jabs, Ethylin, Kenia, Priti, Amiel, Jeanne, Bacci, Giacomo Maria, Calogero, Claudia, Palazzo, Viviana, Tiberi, Lucia, Blümlein, Ulrike, Rogers, Andrew, Wambach, Jennifer, A, Wegner, Daniel, J, Fulton, Anne, B, Kenna, Margaret, Rosenfeld, Margaret, Holm, Ingrid, A, Quigley, Alan, Hall, Emma, A, Murphy, Laura, C, Cassidy, Diane, M, von Kriegsheim, Alex, Papon, Jean-François, Pasquier, Laurent, Murris, Marlène, S, Chalmers, James, D, Hogg, Claire, Macleod, Kenneth, A, Urquhart, Don, S, Unger, Stefan, Aitman, Timothy, J, Amselem, Serge, Leigh, Margaret, W, Knowles, Michael, R, Omran, Heymut, Mitchison, Hannah, M, Brown, Alan, Marsh, Joseph, A, Welburn, Julie, P I, Ti, Shih-Chieh, Horani, Amjad, Rozet, Jean-Michel, Perrault, Isabelle, Mill, Pleasantine

المساهمون: University of Edinburgh (Edin.), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Harvard Medical School Boston (HMS), The University of Hong Kong (HKU), University of Dundee, Royal Brompton Hospital, Washington University School of Medicine Saint Louis, MO, University of North Carolina Chapel Hill (UNC), University of North Carolina System (UNC), Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University Hospital Münster - Universitaetsklinikum Muenster Germany (UKM), University College of London London (UCL), Alexandria University Alexandrie, University of Southampton, Western General Hospital Edinburgh, UK, Centre Hospitalier Intercommunal de Créteil (CHIC), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Institute of Medical Physics and Biophysics Münster, Germany (IM2P), Zagazig University, Oslo University Hospital Oslo, University of Leicester, University of Alabama at Birmingham Birmingham (UAB), Icahn School of Medicine at Mount Sinai New York (MSSM), Mayo Clinic Rochester, Birmingham Women's and Children's NHS Foundation Trust, Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Azienda Ospedaliero Universitaria Meyer Firenze = Meyer Children's University Hospital Florence (AOU Meyer), Medizinische Universität Lausitz - Carl Thiem Cottbus, Germany (MUL), Boston Children's Hospital, University of Washington Seattle, Seattle Children's Research Institute Seattle, WA, USA, Royal Hospital for Children and Young People Edinburgh, UK (RHCYP), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Pontchaillou, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), University of North Carolina at Chapel Hill NC, USA (UNC), We are grateful for support from the UKRI Medical Research Council MC_UU_00007_14 (P.L.Y., F.M., P.A.T.,L.M., P.M.), MR_Y015002_1 (P.L.Y., F.M., P.A.T., L.M., E.A.H., P.M.), MC_UU_00007_16 (A.M., S.A., P.G.),MR_M02122X_1 (J.A.M.), MR_N013166_1 (T.A.) and MC_PC_21044 (P.M.). This project has received fundingfrom the European Research Council (ERC) under the European Union's Horizon 2020 research and innovationprogramme (grant agreement n°866355: D.D., P.T., E.A.H., P.M.). Funding support for this project was alsoprovided as a Lister Prize Fellowship to J.A.M., A.S. is supported by Asthma Lung UK, an NHS Research Scotlandfellowships to S.U. and D.U. The Scottish Genomes Partnership is funded by the Chief Scientist Office of the Scottish Government Health Directorates (SGP/1) and the Medical Research Council Whole Genome Sequencing for Health and Wealth Initiative (MC_PC_15080). We are grateful for support from Wellcome (Multiuser Equipment Grant, 208402/Z/17/Z), 219607/Z/19/Z (R.M.), 207430 (J.P.I.W.), 203149 (Wellcome Centre for Cell Biology) and 210585/Z/18/Z (M.R.F.). This work was supported by grants from the Fondation de France Berthe Fouassier (Engt 00079330) and Association Autour de Faustine (S.M.), as well as Retina France, Fondation JEDBelgique, Union Nationale des Aveugles et Déficients Visuels (UNADEV)-Alliance Nationale pour les sciences de la vie et de la sante´ (AVIESAN) (R16073KS) and Fondation Visio (I.P., J.M.R.). J.M.R. is a member of the European Reference Network for Rare Eye Diseases (ERN-EYE), which is co-funded by the Health Program of the European Union under the Framework Partnership Agreement n°739534. H.M.M. is supported by NIHR GOSH BRC, and Ministry of Higher Education in Egypt. We are grateful for support from the BEAT-PCD network (COST Action 1407 and European Respiratory Society (ERS) Clinical Research Collaboration, S.A., E.E., M.L., H.M.M., S.C., A.S., C.H.). We thank the Chancellerie des Universités de Paris (Legs Poix grant) and RaDiCo, funded bythe French National Research Agency under the specific program “Investments for the Future,” (Cohort grant agreement ANR-10-COHO-0003) for support (E.E., M.L., S.A.). We acknowledge the following research funding support from the German Research Foundation (DFG) WA 4283/1-1 (J.W.), OM6/7, OM6/8, OM6/10, OM6/14, OM6/16 (H.O.) and OM6/11 (H.O.), as well as the nterdisziplinären Zentrum für Klinische Forschung Münster (IZKF) SEED/017/21 (J.W.) and Om2/10/20 (H.O.), and the Bundesministerium für Bildung und Forschung NEOCYST 01GM1903A¸ 01GM2203A, and 01GM1515A (H.O.). We are grateful to funding support from the Hong Kong Research Grants Council Collaborative Research Fund C7064-22GF (S.C.T.) and University GrantsCommittee GRF 17118421 (S.C.T.). We acknowledge funding support by a Charles A. King Trust Postdoctoral Research Fellowship (M.G.) and the Pew Charitable Trust (A.B.). Funding support for research was also providedby the US NIH/ORDR/NACTS/NHLBI grant U54HL096458 (M.R.K., M.W.L., M.A.Z., M.R.), the US NIH/ NHLBI grant R01HL071798 (M.A.Z., M.R.K.), the US NIH/NIGMS grant GM141109 (A.B.), the US NIH grant 1K08HL150223 (A.H.), as well as the NIH Institute grant PD-FR-2021-933 (Washington University Children’s Discovery Institute). The Genetic Disorders of Mucociliary Clearance Consortium (U54HL096458) is part of the National Center for Advancing Translational Sciences (NCATS) Rare Diseases Clinical Research Network(RDCRN) and supported by the RDCRN Data Management and Coordinating Center (DMCC) (U2CTR002818). RDCRN is an initiative of the Office of Rare Diseases Research (ORDR) funded through a collaboration between NCATS and National Heart, Lung, and Blood Institute (NHLBI). The Yale Center for Mendelian Genomics (UM1HG006504) is funded by the US NIH/NHGRI (National Human Genome Research Institute). Research reported in this manuscript was supported by the NIH Common Fund, through the Office of Strategic Coordination/ Office of the NIH Director under Award Number U01HG007690. The contents are solely the responsibility of the authors and do not necessarily represent the official views of the National Institute of Health. The UK National PCD Centres are commissioned and funded by NHS England., ANR-10-COHO-0003,RADICO,Cohorte nationale maladies rares(2010)

المصدر: ISSN: 0036-8075.

مصطلحات موضوعية: MESH: Animals, MESH: Humans, MESH: Male, MESH: Female, MESH: Mice, Knockout, MESH: Axoneme, MESH: Centrioles, MESH: Cilia, MESH: Ciliary Motility Disorders, MESH: Mutation, MESH: Protein Isoforms, MESH: Tubulin, [SDV]Life Sciences [q-bio], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/38662826; PUBMED: 38662826; PUBMEDCENTRAL: PMC7616230

الاتاحة: https://inserm.hal.science/inserm-04804407
https://doi.org/10.1126/science.adf5489

المؤلفون: Sharma, Ritu S., Harrison, David J., Kisielewski, Dorothy, Cassidy, Diane M., McNeilly, Alison D., Gallagher, Jennifer R., Walsh, Shaun V., Honda, Tadashi, McCrimmon, Rory J., Dinkova-Kostova, Albena T., Ashford, Michael L. J., Dillon, John F., Hayes, John D.

المصدر: Sharma , R S , Harrison , D J , Kisielewski , D , Cassidy , D M , McNeilly , A D , Gallagher , J R , Walsh , S V , Honda , T , McCrimmon , R J , Dinkova-Kostova , A T , Ashford , M L J , Dillon , J F & Hayes , J D 2018 , ' Experimental Nonalcoholic Steatohepatitis and Liver Fibrosis Are Ameliorated by Pharmacologic Activation of Nrf2 (NF-E2 p45-Related Factor 2) ' , Cellular and Molecular Gastroenterology and Hepatology , vol. 5 , no. 3 , pp. ....

مصطلحات موضوعية: NASH, Nrf2, TBE-31, /dk/atira/pure/subjectarea/asjc/2700/2721, name=Hepatology, /dk/atira/pure/subjectarea/asjc/2700/2715, name=Gastroenterology

وصف الملف: application/pdf

Relation: https://discovery.dundee.ac.uk/en/publications/59f4cf5a-1dc3-40ce-9cec-e7ea7bf7a3e1

الاتاحة: https://discovery.dundee.ac.uk/en/publications/59f4cf5a-1dc3-40ce-9cec-e7ea7bf7a3e1
https://doi.org/10.1016/j.jcmgh.2017.11.016
https://discovery.dundee.ac.uk/ws/files/20412483/PIIS2352345X17301807.pdf

المؤلفون: Tosoni, Kendra, Stobbart, Michelle, Cassidy, Diane M., Venerando, Andrea, Pagano, Mario A., Luz, Simão, Amaral, Margarida D., Kunzelmann, Karl, Pinna, Lorenzo A., Farinha, Carlos M., Mehta, Anil

المصدر: Biochemical Journal ; volume 449, issue 1, page 295-305 ; ISSN 0264-6021 1470-8728

الاتاحة: http://dx.doi.org/10.1042/bj20121240
https://portlandpress.com/biochemj/article-pdf/449/1/295/676372/bj4490295.pdf

المؤلفون: Hunter, Mairi J., Treharne, Kate J., Winter, Alexandra K., Cassidy, Diane M., Land, Stephen, Mehta, Anil

المساهمون: Hartl, Dominik

المصدر: PLoS ONE ; volume 5, issue 7, page e11598 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0011598
http://dx.plos.org/10.1371/journal.pone.0011598

المؤلفون: Treharne, Kate J., Xu, Zhe, Chen, Jeng-Haur, Best, O. Giles, Cassidy, Diane M., Gruenert, Dieter C., Hegyi, Péter, Gray, Michael A., Sheppard, David N., Kunzelmann, Karl, Mehta, Anil

المصدر: Cellular Physiology and Biochemistry ; volume 24, issue 5-6, page 347-360 ; ISSN 1421-9778 1015-8987

الاتاحة: http://dx.doi.org/10.1159/000257427
http://www.karger.com/Article/Pdf/257427

المؤلفون: Sharma, Ritu S., Harrison, David J., Kisielewski, Dorothy, Cassidy, Diane M., McNeilly, Alison D., Gallagher, Jennifer R., Walsh, Shaun V., Honda, Tadashi, McCrimmon, Rory J., Dinkova-Kostova, Albena T., Ashford, Michael L.J., Dillon, John F., Hayes, John D.

المساهمون: Medical Research Council, University of St Andrews. School of Medicine, University of St Andrews. Cellular Medicine Division

مصطلحات موضوعية: RM, QH301, QH301 Biology, NASH, NDAS, TBE-31, Nrf2, RM Therapeutics. Pharmacology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______901::e9c26c3ee7f56a1aad5080fc5ac7127c
https://hdl.handle.net/10023/12789

المؤلفون: Tosoni, Kendra, Stobbart, Michelle, Cassidy, Diane M, Venerando, Andrea, Pagano, Mario A, Luz, Simao, Amaral, Margarida D, Kunzelmann, Karl, Pinna, Lorenzo A, Farinha, Carlos Miguel, Mehta, Anil

المصدر: Tosoni , K , Stobbart , M , Cassidy , D M , Venerando , A , Pagano , M A , Luz , S , Amaral , M D , Kunzelmann , K , Pinna , L A , Farinha , C M & Mehta , A 2013 , ' CFTR mutations altering CFTR fragmentation ' , Biochemical Journal , vol. 449 , no. 1 , pp. 295-305 . https://doi.org/10.1042/BJ20121240

Relation: https://discovery.dundee.ac.uk/en/publications/e414c6e8-4328-49fb-b5fa-35a78474b243

الاتاحة: https://discovery.dundee.ac.uk/en/publications/e414c6e8-4328-49fb-b5fa-35a78474b243
https://doi.org/10.1042/BJ20121240
http://www.scopus.com/inward/record.url?scp=84870934566&partnerID=8YFLogxK