المؤلفون: Raidt, Johanna, Riepenhausen, Sarah, Pennekamp, Petra, Olbrich, Heike, Amirav, Israel, Athanazio, Rodrigo A., Aviram, Micha, Balinotti, Juan E., Bar-On, Ophir, Bode, Sebastian F.N., Boon, Mieke, Borrelli, Melissa, Carr, Siobhan B., Crowley, Suzanne, Dehlink, Eleonora, Diepenhorst, Sandra, Durdik, Peter, Dworniczak, Bernd, Emiralioğlu, Nagehan, Erdem, Ela, Fonnesu, Rossella, Gracci, Serena, Große-Onnebrink, Jörg, Gwozdziewicz, Karolina, Haarman, Eric G., Hansen, Christine R., Hogg, Claire, Holgersen, Mathias G., Kerem, Eitan, Körner, Robert W., Kötz, Karsten, Kouis, Panayiotis, Loebinger, Michael R., Lorent, Natalie, Lucas, Jane S., Maj, Debora, Mall, Marcus A., Marthin, June K., Martinu, Vendula, Mazurek, Henryk, Mitchison, Hannah M., Nöthe-Menchen, Tabea, Özçelik, Ugur, Pifferi, Massimo, Pogorzelski, Andrzej, Ringshausen, Felix C., Roehmel, Jobst F., Rovira-Amigo, Sandra, Rumman, Nisreen, Schlegtendal, Anne, Shoemark, Amelia, Kennelly, Synne Sperstad, Staar, Ben O., Sutharsan, Sivagurunathan, Thomas, Simon, Ullmann, Nicola, Varghese, Julian, von Hardenberg, Sandra, Walker, Woolf T., Wetzke, Martin, Witt, Michal, Yiallouros, Panayiotis, Zschocke, Anna, Ziętkiewicz, Ewa, Nielsen, Kim G., Omran, Heymut

المصدر: Raidt , J , Riepenhausen , S , Pennekamp , P , Olbrich , H , Amirav , I , Athanazio , R A , Aviram , M , Balinotti , J E , Bar-On , O , Bode , S F N , Boon , M , Borrelli , M , Carr , S B , Crowley , S , Dehlink , E , Diepenhorst , S , Durdik , P , Dworniczak , B , Emiralioğlu , N , Erdem , E , Fonnesu , R , Gracci , S , Große-Onnebrink , J , Gwozdziewicz , ....

مصطلحات موضوعية: /dk/atira/pure/subjectarea/asjc/2700/2740, name=Pulmonary and Respiratory Medicine

وصف الملف: application/pdf

الاتاحة: https://discovery.dundee.ac.uk/en/publications/a3676fd5-bc27-4753-9ace-636278359549
https://doi.org/10.1183/13993003.01769-2023
https://discovery.dundee.ac.uk/ws/files/139599863/Eur_Respir_J-2024-Raidt-2301769.pdf
http://www.scopus.com/inward/record.url?scp=85194899923&partnerID=8YFLogxK

المؤلفون: Burgoyne, Thomas, Fassad, Mahmoud R, Schultz, Rüdiger, Elenius, Varpu, Lim, Jacqueline SY, Freke, Grace, Rai, Ranjit, Mohammed, Mai A, Mitchison, Hannah M, Sironen, Anu I

المصدر: Pediatric Pulmonology (2024) (In press).

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10197342/1/HYDIN%20variants%20cause%20primary%20ciliary%20dyskinesia%20in%20the%20Finnish%20population.pdf; https://discovery.ucl.ac.uk/id/eprint/10197342/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10197342/1/HYDIN%20variants%20cause%20primary%20ciliary%20dyskinesia%20in%20the%20Finnish%20population.pdf
https://discovery.ucl.ac.uk/id/eprint/10197342/

المؤلفون: Fleming, Andrew, Galey, Miranda, Briggs, Lizi, Edwards, Matthew, Hogg, Claire, John, Shibu, Wilkinson, Sam, Quinn, Ellie, Rai, Ranjit, Burgoyne, Tom, Rogers, Andy, Patel, Mitali P., Griffin, Paul, Muller, Steven, Carr, Siobhan B., Loebinger, Michael R., Lucas, Jane S., Shah, Anand, Jose, Ricardo, Mitchison, Hannah M., Shoemark, Amelia, Miller, Danny E., Morris-Rosendahl, Deborah J.

المصدر: Fleming , A , Galey , M , Briggs , L , Edwards , M , Hogg , C , John , S , Wilkinson , S , Quinn , E , Rai , R , Burgoyne , T , Rogers , A , Patel , M P , Griffin , P , Muller , S , Carr , S B , Loebinger , M R , Lucas , J S , Shah , A , Jose , R , Mitchison , H M , Shoemark , A , Miller , D E & Morris-Rosendahl , D J 2024 ....

وصف الملف: application/pdf

الاتاحة: https://discovery.dundee.ac.uk/en/publications/e4e2e454-4b4c-4d45-8ff0-947737faa065
https://doi.org/10.1038/s41431-024-01599-7
https://discovery.dundee.ac.uk/ws/files/131120070/s41431-024-01599-7.pdf

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: Dore, Rhys, Nizza, Isabella E, Mitchison, Hannah M, Lewis, Celine

المصدر: Journal of Health Psychology (2024) (In press).

مصطلحات موضوعية: adolescence, chronic illness, experience, health care systems, illness perception, interpretative phenomenological analysis (IPA), qualitative methods, respiratory problems, stigmatisation

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10186508/1/dore-et-al-2024-don-t-let-it-hold-you-back-the-experience-of-transition-to-adulthood-in-young-people-with-primary.pdf; https://discovery.ucl.ac.uk/id/eprint/10186508/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10186508/1/dore-et-al-2024-don-t-let-it-hold-you-back-the-experience-of-transition-to-adulthood-in-young-people-with-primary.pdf
https://discovery.ucl.ac.uk/id/eprint/10186508/

المؤلفون: Crowley, Suzanne, Hankey, William, Elnagheeb, Marwa, Mani, Rahma, Benito, Maria-Ines, Soliman, Rasha, de Almeida Gomes, Mafalda, Ing, Alexander, Abdelwahab, Sabri, Worley, Lindsay, Mcnulty, Shannon, Siew, Justine, Thaxton, Courtney, Loucks, Catrina, M., Thomas, Simon, Zariwala, Maimoona, A, Leigh, Margaret, Morris-Rosendahl, Deborah, Zietkiewicz, Ewa, Dell, Sharon, Gaston, Ben, Dworniczak, Bernd, Hirst, Robert, Raidt, Johanna, Nykamp, Keith, Hannah, William, Fassad, Mahmoud, Shoemark, Amelia, Legendre, Marie, Mitchison, Hannah M

المساهمون: Oslo University Hospital Oslo, University of North Carolina Chapel Hill (UNC), University of North Carolina System (UNC), Sorbonne Université (SU), Université de Sousse, Queen Mary University of London (QMUL), Imperial College London, Ann & Robert H. Lurie Children's Hospital of Chicago, University of British Columbia (UBC), University of Southampton, Royal Brompton Hospital, Polska Akademia Nauk = Polish Academy of Sciences = Académie polonaise des sciences (PAN), Indiana University Bloomington, Indiana University System, University Hospital Münster - Universitaetsklinikum Muenster Germany (UKM), University of Leicester, Case Western Reserve University Cleveland, Newcastle University Newcastle, University of Dundee, 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 College of London London (UCL)

المصدر: european respiratory society ; https://inserm.hal.science/inserm-04210979 ; european respiratory society, Sep 2023, Milan (Italie), Italy

مصطلحات موضوعية: bronchiectasis, children, genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract

جغرافية الموضوع: Milan (Italie), Italy

Relation: inserm-04210979; https://inserm.hal.science/inserm-04210979; https://inserm.hal.science/inserm-04210979/document; https://inserm.hal.science/inserm-04210979/file/SCrowley%20poster.pdf

الاتاحة: https://inserm.hal.science/inserm-04210979
https://inserm.hal.science/inserm-04210979/document
https://inserm.hal.science/inserm-04210979/file/SCrowley%20poster.pdf

المؤلفون: Walton, Travis, Gui, Miao, Velkova, Simona, Fassad, Mahmoud R., Hirst, Robert A., Haarman, Eric, O’Callaghan, Christopher, Bottier, Mathieu, Burgoyne, Thomas, Mitchison, Hannah M., Brown, Alan

المصدر: Walton , T , Gui , M , Velkova , S , Fassad , M R , Hirst , R A , Haarman , E , O’Callaghan , C , Bottier , M , Burgoyne , T , Mitchison , H M & Brown , A 2023 , ' Axonemal structures reveal mechanoregulatory and disease mechanisms ' , Nature , vol. 618 , no. 7965 , pp. 625-633 . https://doi.org/10.1038/s41586-023-06140-2

الاتاحة: https://research.vumc.nl/en/publications/34157ebc-47d6-476b-9a75-dbf8cb40f17b
https://doi.org/10.1038/s41586-023-06140-2
http://www.scopus.com/inward/record.url?scp=85160672190&partnerID=8YFLogxK

المؤلفون: Bakey, Zeineb, Cabrera, Oscar A., Antony, Dinu, Mitchison, Hannah M., Schmidts, Miriam, Pazour, Gregory J.

المصدر: PLOS Genetics. - 19, 6 (2023) , e1010796, ISSN: 1553-7404

وصف الملف: pdf

Relation: https://freidok.uni-freiburg.de/data/237270

الاتاحة: https://freidok.uni-freiburg.de/data/237270
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-2372704
https://doi.org/10.1371/journal.pgen.1010796
https://freidok.uni-freiburg.de/dnb/download/237270

المؤلفون: Fassad, Mahmoud R, Rumman, Nisreen, Junger, Katrin, Patel, Mitali P, Thompson, James, Goggin, Patricia, Ueffing, Marius, Beyer, Tina, Boldt, Karsten, Lucas, Jane S, Mitchison, Hannah M

المصدر: Human Molecular Genetics , Article ddad132. (2023) (In press).

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Biochemistry & Molecular Biology, Genetics & Heredity, IFT74, ciliopathies, primary ciliary dyskinesia, intraflagellar transport, IFT-B, MALE-FERTILITY, B CORE, COMPLEX, SPERMIOGENESIS, GENE, ARCHITECTURE, ORIENTATION, DYSFUNCTION, MACHINERY

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10178817/1/ddad132.pdf; https://discovery.ucl.ac.uk/id/eprint/10178817/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10178817/1/ddad132.pdf
https://discovery.ucl.ac.uk/id/eprint/10178817/

المؤلفون: Rumman, Nisreen, Fassad, Mahmoud R, Driessens, Corine, Goggin, Patricia, Abdelrahman, Nader, Adwan, Adel, Albakri, Mutaz, Chopra, Jagrati, Doherty, Regan, Fashho, Bishara, Freke, Grace M, Hasaballah, Abdallah, Jackson, Claire L, Mohamed, Mai A, Abu Nema, Reda, Patel, Mitali P, Pengelly, Reuben J, Qaaqour, Ahmad, Rubbo, Bruna, Thomas, N Simon, Thompson, James, Walker, Woolf T, Wheway, Gabrielle, Mitchison, Hannah M, Lucas, Jane S

المصدر: ERJ Open Research , 9 00714-2022. (2023)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10168312/2/Fassad_The%20Palestinian%20primary%20ciliary%20dyskinesia%20population_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10168312/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10168312/2/Fassad_The%20Palestinian%20primary%20ciliary%20dyskinesia%20population_VoR.pdf
https://discovery.ucl.ac.uk/id/eprint/10168312/

المؤلفون: Parviainen, Lotta, Dihanich, Sybille, Anderson, Greg W, Wong, Andrew M, Brooks, Helen R, Abeti, Rosella, Rezaie, Payam, Lalli, Giovanna, Pope, Simon, Heales, Simon J, Mitchison, Hannah M, Williams, Brenda P, Cooper, Jonathan D

المصدر: Acta Neuropathologica Communications. 5(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Neurosciences, Rare Diseases, Brain Disorders, Pediatric, Acquired Cognitive Impairment, Neurodegenerative, Mental Health, Batten Disease, Dementia, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adult, Aminopeptidases, Animals, Brain, Cell Movement, Cell Survival, Cells, Cultured, Child, Coculture Techniques, Cytoskeleton, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Female, Glutathione, Humans, Male, Membrane Glycoproteins, Mice, Inbred C57BL, Mice, Transgenic, Molecular Chaperones, Neuroglia, Neuronal Ceroid-Lipofuscinoses, Neurons, Serine Proteases, Tripeptidyl-Peptidase 1, Young Adult, Juvenile batten disease, CLN3 disease, Neuronal ceroid lipofuscinosis, Neuron-glial interactions, Astrocyte and microglial dysfunction, Biochemistry and Cell Biology, Clinical Sciences, Biochemistry and cell biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6p38f2s1
https://escholarship.org/content/qt6p38f2s1/qt6p38f2s1.pdf

المؤلفون: Shoemark, Amelia, Mani, Rahma, Gomes, Mafalda, R., Adrian, Gonzales, Maximo, Sun, Hogg, Claire, Morris-Rosendahl, Deborah, Maitre, Bernard, Fassad, Mahmoud R., Goutaki, Myrona, Rumman, Nisreen, Mitchison, Hannah M, Legendre, Marie, Crowley, Suzanne

المساهمون: Royal Brompton Hospital, 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), Great Ormond Street Institute of Child Health (UCL), University College of London London (UCL), Imperial College London, Centre Hospitalier Intercommunal de Créteil (CHIC), Bern University Hospital Berne (Inselspital), Makassed General Hospital Beirut, Lebanon, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Paediatric Department of Allergy and Lung Diseases Oslo, Norway

المصدر: EMBO Cilia ; https://inserm.hal.science/inserm-04121439 ; EMBO Cilia, Oct 2022, Cologne, Allemagne, Germany

مصطلحات موضوعية: [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

جغرافية الموضوع: Cologne, Allemagne, Germany

Relation: inserm-04121439; https://inserm.hal.science/inserm-04121439; https://inserm.hal.science/inserm-04121439/document; https://inserm.hal.science/inserm-04121439/file/1.CiliaVar%20WBC%20poster.pdf

الاتاحة: https://inserm.hal.science/inserm-04121439
https://inserm.hal.science/inserm-04121439/document
https://inserm.hal.science/inserm-04121439/file/1.CiliaVar%20WBC%20poster.pdf

المؤلفون: Mani, Rahma, Gomes, Mafalda, González, Adrián, Hogg, Claire, Morris-Rosendahl, Deborah J., Maitre, Bernard, Fassad, Mahmoud R., Goutaki, Myrona, Lucas, Jane S., Mitchison, Hannah M, Legendre, Marie, Crowley, Suzanne

المساهمون: 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), Great Ormond Street Institute of Child Health (UCL), University College of London London (UCL), Royal Brompton Hospital, Imperial College London, Centre Hospitalier Intercommunal de Créteil (CHIC), Bern University Hospital Berne (Inselspital), University of Southampton, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: 7ème journée annuelle de la filière de santé des maladies respiratoires rares
https://inserm.hal.science/inserm-04121677
7ème journée annuelle de la filière de santé des maladies respiratoires rares, Sep 2022, Paris, France

مصطلحات موضوعية: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract

جغرافية الموضوع: Paris, France

Relation: inserm-04121677; https://inserm.hal.science/inserm-04121677; https://inserm.hal.science/inserm-04121677/document; https://inserm.hal.science/inserm-04121677/file/1.CiliaVar%20WBC%20poster.pdf

الاتاحة: https://inserm.hal.science/inserm-04121677
https://inserm.hal.science/inserm-04121677/document
https://inserm.hal.science/inserm-04121677/file/1.CiliaVar%20WBC%20poster.pdf

المؤلفون: Schultz, Rüdiger, Elenius, Varpu, Fassad, Mahmoud R., Freke, Grace, Rogers, Andrew, Shoemark, Amelia, Koistinen, Tiina, Mohamed, Mai A., Lim, Jacqueline S.Y., Mitchison, Hannah M., Sironen, Anu I.

المساهمون: Tampere University, Department of Respiratory medicine, Dermatology and Allergology

مصطلحات موضوعية: 3121 Internal medicine

وصف الملف: fulltext

Relation: 985227; 13; https://trepo.tuni.fi/handle/10024/143780

الاتاحة: https://trepo.tuni.fi/handle/10024/143780
https://doi.org/10.3389/fgene.2022.985227

المؤلفون: Schmidts, Miriam, Hou, Yuqing, Mitchison, Hannah M., Witman, George B.

المساهمون: Department of Cell and Developmental Biology

المصدر: Nature communications ; 6 ; 7074

مصطلحات موضوعية: Biological sciences, Cell biology, Genetics, Cell and Developmental Biology, Musculoskeletal Diseases

Relation: Link to Article in PubMed; Nat Commun. 2015 Jun 5;6:7074. doi:10.1038/ncomms8074. Link to article on publisher's site; 2041-1723 (Linking); http://hdl.handle.net/20.500.14038/26487; https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=1170&context=cellbiology_pp&unstamped=1; https://escholarship.umassmed.edu/cellbiology_pp/171; 7709838; cellbiology_pp/171

الاتاحة: https://doi.org/10.1038/ncomms8074
https://hdl.handle.net/20.500.14038/26487
https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=1170&context=cellbiology_pp&unstamped=1
https://escholarship.umassmed.edu/cellbiology_pp/171

المؤلفون: Shoemark, Amelia, Griffin, Helen, Wheway, Gabrielle, Hogg, Claire, Lucas, Jane S., Camps, Carme, Taylor, Jenny, Carroll, Mary, Loebinger, Michael R., Chalmers, James D., Morris-Rosendahl, Deborah, Mitchison, Hannah M., De Soyza, Anthony

المصدر: Shoemark , A , Griffin , H , Wheway , G , Hogg , C , Lucas , J S , Camps , C , Taylor , J , Carroll , M , Loebinger , M R , Chalmers , J D , Morris-Rosendahl , D , Mitchison , H M , De Soyza , A 2022 , ' Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis ' , European Respiratory Journal , vol. 60 , no. 5 , 2200176 . https://doi.org/10.1183/13993003.00176-2022

وصف الملف: application/pdf

الاتاحة: https://discovery.dundee.ac.uk/en/publications/28ff63f1-84e9-450b-bad3-10dae419ad12
https://doi.org/10.1183/13993003.00176-2022
https://discovery.dundee.ac.uk/ws/files/76032432/PCD_genes_in_bronchiectasis_as_submitted.pdf
http://www.scopus.com/inward/record.url?scp=85141392825&partnerID=8YFLogxK

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: Schmidts, Miriam, Vodopiutz, Julia, Christou-Savina, Sonia, Cortés, Claudio R, McInerney-Leo, Aideen M, Emes, Richard D, Arts, Heleen H, Tüysüz, Beyhan, D’Silva, Jason, Leo, Paul J, Giles, Tom C, Oud, Machteld M, Harris, Jessica A, Koopmans, Marije, Marshall, Mhairi, Elçioglu, Nursel, Kuechler, Alma, Bockenhauer, Detlef, Moore, Anthony T, Wilson, Louise C, Janecke, Andreas R, Hurles, Matthew E, Emmet, Warren, Gardiner, Brooke, Streubel, Berthold, Dopita, Belinda, Zankl, Andreas, Kayserili, Hülya, Scambler, Peter J, Brown, Matthew A, Beales, Philip L, Wicking, Carol, UK10K, Duncan, Emma L, Mitchison, Hannah M

المصدر: American Journal of Human Genetics. 93(5)

مصطلحات موضوعية: Rare Diseases, Pediatric, Underpinning research, 1.1 Normal biological development and functioning, Generic health relevance, Animals, Asians, Axoneme, Carrier Proteins, Child, Chlamydomonas, Cilia, Cytoplasmic Dyneins, Cytoskeleton, Ellis-Van Creveld Syndrome, Exome, Exons, Humans, Infant, Infant, Newborn, Intracellular Signaling Peptides and Proteins, Mutation, Protein Conformation, Proteomics, Whites, UK10K, Asian People, White People, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/24q016kx
https://escholarship.org/content/qt24q016kx/qt24q016kx.pdf

المؤلفون: Shoemark, Amelia, Rubbo, Bruna, Legendre, Marie, Fassad, Mahmoud R, Haarman, Eric G, Best, Sunayna, Bon, Irma C M, Brandsma, Joost, Burgel, Pierre-Regis, Carlsson, Gunnar, Carr, Siobhan B, Carroll, Mary, Edwards, Matt, Escudier, Estelle, Honoré, Isabelle, Hunt, David, Jouvion, Gregory, Loebinger, Michel R, Maitre, Bernard, Morris-Rosendahl, Deborah, Papon, Jean-Francois, Parsons, Camille M, Patel, Mitali P, Thomas, N Simon, Thouvenin, Guillaume, Walker, Woolf T, Wilson, Robert, Hogg, Claire, Mitchison, Hannah M, Lucas, Jane S

المصدر: Shoemark , A , Rubbo , B , Legendre , M , Fassad , M R , Haarman , E G , Best , S , Bon , I C M , Brandsma , J , Burgel , P-R , Carlsson , G , Carr , S B , Carroll , M , Edwards , M , Escudier , E , Honoré , I , Hunt , D , Jouvion , G , Loebinger , M R , Maitre , B , Morris-Rosendahl , D , Papon , J-F , Parsons , C M , Patel , M P ....

الاتاحة: https://research.vumc.nl/en/publications/b58ab6d7-8d66-403a-8c16-716af50eaeb8
https://doi.org/10.1183/13993003.02359-2020
http://www.scopus.com/inward/record.url?scp=85105402921&partnerID=8YFLogxK

المؤلفون: Lam, Wai-Yee, Tang, Clara Sze-Man, So, Man-Ting, Yue, Haibing, Hsu, Jacob Shujui, Chung, Patrick Ho-Yu, Nicholls, John M., Yeung, Fanny, Lee, Chun-Wai Davy, Ngo, Diem Ngoc, Nguyen, Pham Anh Hoa, Mitchison, Hannah M., Jenkins, Dagan, O'Callaghan, Christopher, Garcia-Barceló, Maria-Mercè, Lee, So-Lun, Sham, Pak-Chung, Lui, Vincent Chi-Hang, Tam, Paul Kwong-Hang

المصدر: eBioMedicine ; volume 71, page 103530 ; ISSN 2352-3964

الاتاحة: http://dx.doi.org/10.1016/j.ebiom.2021.103530
https://api.elsevier.com/content/article/PII:S2352396421003236?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2352396421003236?httpAccept=text/plain