المؤلفون: Hall, Emma, Kumar, Dhivya, Prosser, Suzanna, Yeyati, Patricia, Herranz-Pérez, Vicente, García-Verdugo, Jose Manuel, rose, lorraine, McKie, Lisa, Dodd, Daniel, Tennant, Peter, Megaw, Roly, Murphy, Laura, Ferreira, Marisa, Grimes, Graeme, Williams, Lucy, Quidwai, Tooba, Pelletier, Laurence, Reiter, Jeremy, Mill, Pleasantine

مصطلحات موضوعية: centriolar satellites, centrosome, cilia, cell, 3. Salud y bienestar

وصف الملف: application/pdf

Relation: Hall, E. A., Kumar, D., Prosser, S. L., Yeyati, P. L., Herranz-Pérez, V., García-Verdugo, J. M., . & Mill, P. (2023). Centriolar satellites expedite mother centriole remodeling to promote ciliogenesis. Elife, 12, e79299.; http://hdl.handle.net/10234/206172; https://doi.org/10.7554/eLife.79299

الاتاحة: http://hdl.handle.net/10234/206172
https://doi.org/10.7554/eLife.79299

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: Megaw, Roly, Moye, Abigail, Zhang, Zhixian, Newton, Fay, McPhie, Fraser, Murphy, Laura C., McKie, Lisa, He, Feng, Jungnickel, Melissa K., von Kriegsheim, Alex, Tennant, Peter A., Brotherton, Chloe, Gurniak, Christine, Gross, Alecia K., Machesky, Laura M., Wensel, Theodore G., Mill, Pleasantine

المساهمون: RCUK | Medical Research Council, Cancer Research UK, Fight for Sight UK, Welch Foundation, U.S. Department of Health & Human Services | NIH | National Eye Institute, Wellcome Trust

المصدر: Nature Communications ; volume 15, issue 1 ; ISSN 2041-1723

الاتاحة: http://dx.doi.org/10.1038/s41467-024-48639-w
https://www.nature.com/articles/s41467-024-48639-w.pdf
https://www.nature.com/articles/s41467-024-48639-w

المؤلفون: Hall, Emma A, Kumar, Dhivya, Prosser, Suzanna L, Yeyati, Patricia L, Herranz-Pérez, Vicente, García-Verdugo, Jose Manuel, Rose, Lorraine, McKie, Lisa, Dodd, Daniel O, Tennant, Peter A, Megaw, Roly, Murphy, Laura C, Ferreira, Marisa F, Grimes, Graeme, Williams, Lucy, Quidwai, Tooba, Pelletier, Laurence, Reiter, Jeremy F, Mill, Pleasantine

المساهمون: Medical Research Council, European Commission, Canadian Institutes of Health Research, National Institutes of Health, Jane Coffin Childs Memorial Fund for Medical Research, Sandler Foundation, Krembil Foundation

المصدر: eLife ; volume 12 ; ISSN 2050-084X

الاتاحة: http://dx.doi.org/10.7554/elife.79299
https://cdn.elifesciences.org/articles/79299/elife-79299-v2.pdf
https://cdn.elifesciences.org/articles/79299/elife-79299-v2.xml
https://elifesciences.org/articles/79299

المؤلفون: Hall, Hildegard Nikki, Bengani, Hemant, Hufnagel, Robert B., Damante, Giuseppe, Ansari, Morad, Marsh, Joseph A., Grimes, Graeme R., von Kriegsheim, Alex, Moore, David, McKie, Lisa, Rahmat, Jamalia, Mio, Catia, Blyth, Moira, Keng, Wee Teik, Islam, Lily, McEntargart, Meriel, Mannens, Marcel M., van Heyningen, Veronica, Rainger, Joe, Brooks, Brian P., FitzPatrick, David R.

المصدر: Hall , H N , Bengani , H , Hufnagel , R B , Damante , G , Ansari , M , Marsh , J A , Grimes , G R , von Kriegsheim , A , Moore , D , McKie , L , Rahmat , J , Mio , C , Blyth , M , Keng , W T , Islam , L , McEntargart , M , Mannens , M M , van Heyningen , V , Rainger , J , Brooks , B P & FitzPatrick , D R 2022 , ' Monoallelic variants resulting ....

الاتاحة: https://research.vumc.nl/en/publications/8b21dc57-62c6-4cda-86a6-1278ccc03020
https://doi.org/10.1371/journal.pone.0268149
http://www.scopus.com/inward/record.url?scp=85142918853&partnerID=8YFLogxK

المؤلفون: TINGAUD-SEQUEIRA, Angele, MERCIER, Elina, MICHAUD, Vincent, PINSON, Benoit, GAZOVA, Ivet, GONTIER, Etienne, DECOEUR, Fanny, MCKIE, Lisa, JACKSON, Ian J, ARVEILER, Benoit, JAVERZAT, Sophie

مصطلحات موضوعية: Albinism, Oculocutaneous, Animals, Disease Models, Animal, Humans, Intramolecular Oxidoreductases, Levodopa, Melanosomes, Mice, Monophenol Monooxygenase, Sciences du Vivant [q-bio]/Génétique

Relation: https://oskar-bordeaux.fr/handle/20.500.12278/170220

الاتاحة: https://oskar-bordeaux.fr/handle/20.500.12278/170220
https://hdl.handle.net/20.500.12278/170220
https://doi.org/10.3390/genes13071164

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: PENNAMEN, Perrine, TINGAUD-SEQUEIRA, Angele, GAZOVA, Iveta, KEIGHREN, Margaret, MCKIE, Lisa, MARLIN, Sandrine, GHERBI HALEM, Souad, KAPLAN, Josseline, DELEVOYE, Cedric, LACOMBE, Didier, PLAISANT, Claudio, MICHAUD, Vincent, LASSEAUX, Eulalie, JAVERZAT, Sophie, JACKSON, Ian, ARVEILER, Benoit

مصطلحات موضوعية: Albinism, DCT, Mouse, Pigmentation, Zebrafish, Sciences du Vivant [q-bio]/Médecine humaine et pathologie

Relation: 1098-3600 (print) 1530-0366 (online); https://oskar-bordeaux.fr/handle/20.500.12278/117082

الاتاحة: https://oskar-bordeaux.fr/handle/20.500.12278/117082
https://hdl.handle.net/20.500.12278/117082
https://doi.org/10.1038/s41436-020-00997-8

المؤلفون: Findlay, Amy S., McKie, Lisa, Keighren, Margaret, Clementson-Mobbs, Sharon, Sanchez-Pulido, Luis, Wells, Sara, Cross, Sally H., Jackson, Ian J.

المساهمون: RCUK | MRC | Medical Research Foundation, RCUK | Medical Research Council

المصدر: Scientific Reports ; volume 10, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-019-57398-4
https://www.nature.com/articles/s41598-019-57398-4.pdf
https://www.nature.com/articles/s41598-019-57398-4

المؤلفون: Cross, Sally H., Mckie, Lisa, Hurd, Toby W., Riley, Sam, Wills, Jimi, Barnard, Alun R., Young, Fiona, MacLaren, Robert E., Jackson, Ian J.

المساهمون: Barsh, Gregory S., Medical Research Council

المصدر: PLOS Genetics ; volume 16, issue 4, page e1008583 ; ISSN 1553-7404

الاتاحة: http://dx.doi.org/10.1371/journal.pgen.1008583
https://dx.plos.org/10.1371/journal.pgen.1008583

المؤلفون: Hall, Emma A, Kumar, Dhivya, Prosser, Suzanna L, Yeyati, Patricia L, Herranz-Pérez, Vicente, García-Verdugo, Jose Manuel, Rose, Lorraine, McKie, Lisa, Dodd, Daniel O, Tennant, Peter A, Megaw, Roly, Murphy, Laura C, Ferreira, Marisa F, Grimes, Graeme, Williams, Lucy, Quidwai, Tooba, Pelletier, Laurence, Reiter, Jeremy F, Mill, Pleasantine

الاتاحة: http://dx.doi.org/10.7554/elife.79299.sa2

المؤلفون: Findlay, Amy S., Carter, Roderick N., Starbuck, Becky, McKie, Lisa, Nováková, Klára, Budd, Peter S., Keighren, Margaret A., Marsh, Joseph A., Cross, Sally H., Simon, Michelle M., Potter, Paul K., Morton, Nicholas M., Jackson, Ian J.

مصطلحات موضوعية: RESEARCH ARTICLE

وصف الملف: text/html

Relation: http://dmm.biologists.org/cgi/content/short/11/12/dmm036426; http://dx.doi.org/10.1242/dmm.036426

الاتاحة: http://dmm.biologists.org/cgi/content/short/11/12/dmm036426
https://doi.org/10.1242/dmm.036426

المؤلفون: Rainger, Joe, van Beusekom, Ellen, Ramsay, Jacqueline K., McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M., Schneider, Adele S., Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Mégarbané, Andre, Semerci, C. Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul, Sousa, Sérgio B., Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J., Gillessen-Kaesbach, Gabriele, Brunner, Han G., Wieczorek, Dagmar, van Bokhoven, Hans, FitzPatrick, David R.

المصدر: PLOS Genetics ; volume 14, issue 12, page e1007866 ; ISSN 1553-7404

الاتاحة: http://dx.doi.org/10.1371/journal.pgen.1007866
http://dx.plos.org/10.1371/journal.pgen.1007866

المؤلفون: Mechaussier, Sabrina, Dodd, Daniel O, Yeyati, Patricia L, McPhie, Fraser, Attard, Thomas, Shoemark, Amelia, Gupta, Deepesh K, Zariwala, Maimoona A, Legendre, Marie, Bracht, Diana, Wallmeier, Julia, Gui, Miao, Anderson, Jacob R, 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, Blümlein, Ulrike, Rogers, Andrew, Wambach, Jennifer A, Wegner, Daniel J, Fulton, Anne B, Kenna, Margaret, Rosenfeld, Margaret, Holm, Ingrid A, Quigley, Alan, Cassidy, Diana M, von Kriegsheim, Alex, Papon, Jean-Francois, Pasquier, Laurent, Murris, Marlène S, Chalmers, James D, Hogg, Clare, Macleod, Kenneth, Urquhart, Don S, Unger, Stefan, Aitman, Timothy J, Amselem, Serge, Rozet, Jean-Michel, Leigh, Margaret W, Knowles, Michael R., Omran, Heymut, Mitchison, Hannah M, Brown, Alan, Marsh, Joseph A, Welburn, Julie P I, Horani, Amjad, Perrault, Isabelle, Mill, Pleasantine

المصدر: medRxiv

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76b3ecab25c7a4483bc75a6bc01046be
https://doi.org/10.1101/2022.10.19.22280748

المؤلفون: Hall, Emma A., Nahorski, Michael S., Murray, Lyndsay M., Shaheen, Ranad, Perkins, Emma, Dissanayake, Kosala N., Kristaryanto, Yosua, Jones, Ross A., Vogt, Julie, Rivagorda, Manon, Handley, Mark T., Mali, Girish R., Quidwai, Tooba, Soares, Dinesh C., Keighren, Margaret A., McKie, Lisa, Mort, Richard L., Gammoh, Noor, Garcia-Munoz, Amaya, Davey, Tracey, Vermeren, Matthieu, Walsh, Diana, Budd, Peter, Aligianis, Irene A., Faqeih, Eissa, Quigley, Alan J., Jackson, Ian J., Kulathu, Yogesh, Jackson, Mandy, Ribchester, Richard R., von Kriegsheim, Alex, Alkuraya, Fowzan S., Woods, C. Geoffrey, Maher, Eamonn R., Mill, Pleasantine

المصدر: Hall , E A , Nahorski , M S , Murray , L M , Shaheen , R , Perkins , E , Dissanayake , K N , Kristaryanto , Y , Jones , R A , Vogt , J , Rivagorda , M , Handley , M T , Mali , G R , Quidwai , T , Soares , D C , Keighren , M A , McKie , L , Mort , R L , Gammoh , N , Garcia-Munoz , A , Davey , T , Vermeren , M , Walsh , D , Budd ....

مصطلحات موضوعية: Journal article, Ubiquitin, Endolysosomal trafficking, Autophage, Synaptic vesicle recycling, Synapse, Microcephaly, Cerebellum, Phospholipase A2-activating protein

وصف الملف: application/pdf

Relation: https://discovery.dundee.ac.uk/en/publications/0c20624f-6912-416c-8a63-6c7595345c55

الاتاحة: https://discovery.dundee.ac.uk/en/publications/0c20624f-6912-416c-8a63-6c7595345c55
https://doi.org/10.1016/j.ajhg.2017.03.008
https://discovery.dundee.ac.uk/ws/files/17617673/1_s2.0_S0002929717301131_main.pdf

المؤلفون: McEntagart, Meriel, Williamson, Kathleen A, Rainger, Jacqueline K, Wheeler, Ann, Seawright, Anne, De Baere, Elfride, Verdin, Hannah, Bergendahl, L Therese, Quigley, Alan, Rainger, Joe, Dixit, Abhijit, Sarkar, Ajoy, López Laso, Eduardo, Sanchez-Carpintero, Rocio, Barrio, Jesus, Bitoun, Pierre, Prescott, Trine, Riise, Ruth, McKee, Shane, Cook, Jackie, McKie, Lisa, Ceulemans, Berten, Meire, Françoise, Temple, I Karen, Prieur, Fabienne, Williams, Jonathan, Clouston, Penny, Németh, Andrea H, Banka, Siddharth, Bengani, Hemant, Handley, Mark, Freyer, Elisabeth, Ross, Allyson, van Heyningen, Veronica, Marsh, Joseph A, Elmslie, Frances, FitzPatrick, David R

المصدر: McEntagart , M , Williamson , K A , Rainger , J K , Wheeler , A , Seawright , A , De Baere , E , Verdin , H , Bergendahl , L T , Quigley , A , Rainger , J , Dixit , A , Sarkar , A , López Laso , E , Sanchez-Carpintero , R , Barrio , J , Bitoun , P , Prescott , T , Riise , R , McKee , S , Cook , J , McKie , L , Ceulemans , B , Meire , F , Temple , ....

مصطلحات موضوعية: Journal Article

الاتاحة: https://research.manchester.ac.uk/en/publications/f43f2919-4379-4676-af7d-91f1bcd99263
https://doi.org/10.1016/j.ajhg.2016.03.018

المؤلفون: Cross, Sally H., Macalinao, Danilo G., McKie, Lisa, Rose, Lorraine, Kearney, Alison L., Rainger, Joe, Thaung, Caroline, Keighren, Margaret, Jadeja, Shalini, West, Katrine, Kneeland, Stephen C., Smith, Richard S., Howell, Gareth R., Young, Fiona, Robertson, Morag, van t' Hof, Rob, John, Simon W. M., Jackson, Ian J.

المساهمون: Barsh, Gregory S.

المصدر: PLoS Genetics ; volume 10, issue 5, page e1004359 ; ISSN 1553-7404

الاتاحة: http://dx.doi.org/10.1371/journal.pgen.1004359
http://dx.plos.org/10.1371/journal.pgen.1004359

المؤلفون: Douvaras Panagiotis, Liu Weijia, Mort Richard L, McKie Lisa, West Katrine M, Cross Sally H, Morley Steven D, West John D

المصدر: BMC Research Notes, Vol 5, Iss 1, p 122 (2012)

مصطلحات موضوعية: Medicine, Biology (General), QH301-705.5, Science (General), Q1-390

Relation: http://www.biomedcentral.com/1756-0500/5/122; https://doaj.org/toc/1756-0500; https://doaj.org/article/0d49149c10144908accb7b1d991a385f

الاتاحة: https://doi.org/10.1186/1756-0500-5-122
https://doaj.org/article/0d49149c10144908accb7b1d991a385f

المؤلفون: Douvaras, Panagiotis, Liu, Weijia, Mort, Richard L, McKie, Lisa, West, Katrine M, Cross, Sally H, Morley, Steven D, West, John D

Relation: http://www.biomedcentral.com/1756-0500/5/122

الاتاحة: http://www.biomedcentral.com/1756-0500/5/122

المؤلفون: Rainger, Joe, Beusekom, Ellen van, Ramsay, Jacqueline K., McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M., Schneider, Adele S., Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Mégarbané, Andre, Semerci, C. Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul C., Sousa, Sérgio B., Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J., Gillessen-Kaesbach, Gabriele Gertrud, Brunner, Han G., Wieczorek, Dagmar, Bokhoven, Hans van, FitzPatrick, David R.

مصطلحات موضوعية: ddc:570

وصف الملف: application/pdf

Relation: http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/22675; urn:nbn:de:hebis:30-91201; https://nbn-resolving.org/urn:nbn:de:hebis:30-91201; https://doi.org/10.1371/journal.pgen.1002114; http://publikationen.ub.uni-frankfurt.de/files/22675/journal.pgen.1002114.pdf

الاتاحة: http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/22675
https://nbn-resolving.org/urn:nbn:de:hebis:30-91201
https://doi.org/10.1371/journal.pgen.1002114
http://publikationen.ub.uni-frankfurt.de/files/22675/journal.pgen.1002114.pdf