المؤلفون: Tan, Shengjiang, Kermasson, Laëtitia, Hilcenko, Christine, Kargas, Vasileios, Traynor, David, Boukerrou, Ahmed Z., Escudero-Urquijo, Norberto, Faille, Alexandre, Bertrand, Alexis, Rossmann, Maxim, Goyenechea, Beatriz, Jin, Li, Moreil, Jonathan, Alibeu, Olivier, Beaupain, Blandine, Bôle-Feysot, Christine, Fumagalli, Stefano, Kaltenbach, Sophie, Martignoles, Jean-Alain, Masson, Cécile, Nitschké, Patrick, Parisot, Mélanie, Pouliet, Aurore, Radford-Weiss, Isabelle, Tores, Frédéric, de Villartay, Jean-Pierre, Zarhrate, Mohammed, Koh, Ai Ling, Phua, Kong Boo, Reversade, Bruno, Bond, Peter J., Bellanné-Chantelot, Christine, Callebaut, Isabelle, Delhommeau, François, Donadieu, Jean, Warren, Alan J., Revy, Patrick

المصدر: Nature Communications ; volume 13, issue 1 ; ISSN 2041-1723

مصطلحات موضوعية: General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41467-022-31316-1Test
https://www.nature.com/articles/s41467-022-31316-1.pdfTest
https://www.nature.com/articles/s41467-022-31316-1Test

المؤلفون: Tan, Shengjiang, Kermasson, Laëtitia, Hilcenko, Christine, Kargas, Vasileios, Traynor, David, Boukerrou, Ahmed, Z, Escudero-Urquijo, Norberto, Faille, Alexandre, Bertrand, Alexis, Rossmann, Maxim, Goyenechea, Beatriz, Jin, Li, Moreil, Jonathan, Alibeu, Olivier, Beaupain, Blandine, Bôle-Feysot, Christine, Fumagalli, Stefano, Kaltenbach, Sophie, Martignoles, Jean-Alain, Masson, Cécile, Nitschké, Patrick, Parisot, Mélanie, Pouliet, Aurore, Radford-Weiss, Isabelle, Tores, Frédéric, de Villartay, Jean-Pierre, Zarhrate, Mohammed, Koh, Ai, Ling, Phua, Kong, Boo, Reversade, Bruno, Bond, Peter, J, Bellanné-Chantelot, Christine, Callebaut, Isabelle, Delhommeau, François, Donadieu, Jean, Warren, Alan, J, Revy, Patrick

المساهمون: Cambridge Institute for Medical Research (CIMR), University of Cambridge UK (CAM), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), KK Women's and Children's Hospital Singapore, Genome Institute of Singapore (GIS), National University of Singapore (NUS), CHU Pitié-Salpêtrière AP-HP, Institut de minéralogie, de physique des matériaux et de cosmochimie (IMPMC), Muséum national d'Histoire naturelle (MNHN)-Institut de recherche pour le développement IRD : UR206-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), ANR-18-IDEX-0001,Université de Paris,Université de Paris(2018)

المصدر: ISSN: 2041-1723.

مصطلحات موضوعية: Haematological diseases, Mutation, Next-generation sequencing, Ribosome, [SDV]Life Sciences [q-bio]

العلاقة: hal-03330053; https://hal.sorbonne-universite.fr/hal-03330053Test; https://hal.sorbonne-universite.fr/hal-03330053v2/documentTest; https://hal.sorbonne-universite.fr/hal-03330053v2/file/Tan%20et%20al.%20-%202021%20-%20Somatic%20genetic%20rescue%20of%20a%20germline%20ribosome%20asse.pdfTest

الإتاحة: https://doi.org/10.1038/s41467-021-24999-5Test
https://hal.sorbonne-universite.fr/hal-03330053Test
https://hal.sorbonne-universite.fr/hal-03330053v2/documentTest
https://hal.sorbonne-universite.fr/hal-03330053v2/file/Tan%20et%20al.%20-%202021%20-%20Somatic%20genetic%20rescue%20of%20a%20germline%20ribosome%20asse.pdfTest

المؤلفون: Goyenechea, Beatriz, Milstein, Cesar

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1996 Nov . 93(24), 13979-13984.

الوصول الحر: https://www.jstor.org/stable/41012Test

المؤلفون: Debrand, Emmanuel, Chakalova, Lyubomira, Miles, Joanne, Dai Yan-Feng, Goyenechea, Beatriz, Dye, Sandra, Osborne, Cameron S., Horton, Alice, Harju-Baker, Susanna, Pink, Ryan C., Caley, Daniel, Carter, David R.F., Peterson, Kenneth R., Fraser, Peter

المصدر: An intergenic non-coding RNA promoter required for histone modifications in the human β-globin chromatin domain [preprint]

وصف الملف: application/pdf

العلاقة: https://radar.brookes.ac.uk/radar/items/47658427-76cd-4aff-8eb4-606f87de5c16/1Test/; https://radar.brookes.ac.uk/radar/file/47658427-76cd-4aff-8eb4-606f87de5c16/1/journal.pone.0217532.pdfTest

الإتاحة: https://radar.brookes.ac.uk/radar/items/47658427-76cd-4aff-8eb4-606f87de5c16/1Test/
https://radar.brookes.ac.uk/radar/file/47658427-76cd-4aff-8eb4-606f87de5c16/1/journal.pone.0217532.pdfTest

المؤلفون: Debrand, Emmanuel, Chakalova, Lyubomira, Miles, Joanne, Dai, Yan-Feng, Goyenechea, Beatriz, Dye, Sandra, Osborne, Cameron S., Horton, Alice, Harju-Baker, Susanna, Pink, Ryan C., Caley, Daniel, Carter, David R. F., Peterson, Kenneth R., Fraser, Peter

المساهمون: Wilber, Andrew C., Medical Research Foundation, Biotechnology and Biological Sciences Research Council, National Institute of Diabetes and Digestive and Kidney Diseases, National Heart, Lung, and Blood Institute, Sparks

المصدر: PLOS ONE ; volume 14, issue 8, page e0217532 ; ISSN 1932-6203

الإتاحة: https://doi.org/10.1371/journal.pone.0217532Test

المؤلفون: Tan, Shengjiang, Kermasson, Laëtitia, Hilcenko, Christine, Kargas, Vasileios, Traynor, David, Boukerrou, Ahmed Z, Escudero-Urquijo, Norberto, Faille, Alexandre, Bertrand, Alexis, Rossmann, Maxim, Goyenechea, Beatriz, Jin, Li, Moreil, Jonathan, Alibeu, Olivier, Beaupain, Blandine, Bôle-Feysot, Christine, Fumagalli, Stefano, Kaltenbach, Sophie, Martignoles, Jean-Alain, Masson, Cécile, Nitschké, Patrick, Parisot, Mélanie, Pouliet, Aurore, Radford-Weiss, Isabelle, Tores, Frédéric, de Villartay, Jean-Pierre, Zarhrate, Mohammed, Koh, Ai Ling, Phua, Kong Boo, Reversade, Bruno, Bond, Peter J, Bellanné-Chantelot, Christine, Callebaut, Isabelle, Delhommeau, François, Donadieu, Jean, Warren, Alan J, Revy, Patrick

مصطلحات موضوعية: Adolescent, Adult, Animals, Biological Phenomena, Cells, Cultured, Child, Preschool, Dictyostelium, Drosophila, Eukaryotic Initiation Factors, Germ Cells, Humans, Infant, Molecular Dynamics Simulation, Mutation, Peptide Elongation Factors, Protein Binding, Protein Biosynthesis, Proteins, Ribonucleoprotein, U5 Small Nuclear, Ribosome Subunits, Large, Eukaryotic, Ribosomes, Saccharomyces cerevisiae, Sequence Homology, Amino Acid, Shwachman-Diamond Syndrome

وصف الملف: application/pdf; application/zip; text/xml

العلاقة: https://www.repository.cam.ac.uk/handle/1810/338495Test

الإتاحة: https://doi.org/10.17863/CAM.85908Test
https://www.repository.cam.ac.uk/handle/1810/338495Test

المؤلفون: Finch, Andrew J., Hilcenko, Christine, Basse, Nicolas, Drynan, Lesley F., Goyenechea, Beatriz, Menne, Tobias F., González Fernández, África, Simpson, Paul, D'Santos, Clive S., Arends, Mark J., Donadieu, Jean, Bellanné-Chantelot, Christine, Costanzo, Michael, Boone, Charles, McKenzie, Andrew N., Freund, Stefan M.V., Warren, Alan J.

مصطلحات موضوعية: Research Papers

وصف الملف: text/html

العلاقة: http://genesdev.cshlp.org/cgi/content/short/25/9/917Test; http://dx.doi.org/10.1101/gad.623011Test

الإتاحة: https://doi.org/10.1101/gad.623011Test
http://genesdev.cshlp.org/cgi/content/short/25/9/917Test

المؤلفون: Miles, Joanne, Mitchell, Jennifer A., Chakalova, Lyubomira, Goyenechea, Beatriz, Osborne, Cameron S., O'Neill, Laura, Tanimoto, Keiji, Engel, James Douglas, Fraser, Peter

المساهمون: Heard, Edith

المصدر: PLoS ONE ; volume 2, issue 7, page e630 ; ISSN 1932-6203

الإتاحة: https://doi.org/10.1371/journal.pone.0000630Test

المؤلفون: Shammas, Camille, Menne, Tobias F., Hilcenko, Christine, Michell, Stephen R., Goyenechea, Beatriz, Boocock, Graeme R.B., Durie, Peter R., Rommens, Johanna M., Warren, Alan J.

المصدر: Journal of Biological Chemistry ; volume 280, issue 19, page 19221-19229 ; ISSN 0021-9258

مصطلحات موضوعية: Cell Biology, Molecular Biology, Biochemistry

الإتاحة: https://doi.org/10.1074/jbc.m414656200Test
https://api.elsevier.com/content/article/PII:S002192582067572X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S002192582067572X?httpAccept=text/plainTest

المؤلفون: Osborne, Cameron S, Chakalova, Lyubomira, Brown, Karen E, Carter, David, Horton, Alice, Debrand, Emmanuel, Goyenechea, Beatriz, Mitchell, Jennifer A, Lopes, Susana, Reik, Wolf, Fraser, Peter

المصدر: Nature Genetics ; volume 36, issue 10, page 1065-1071 ; ISSN 1061-4036 1546-1718

مصطلحات موضوعية: Genetics

الإتاحة: https://doi.org/10.1038/ng1423Test
http://www.nature.com/articles/ng1423.pdfTest
http://www.nature.com/articles/ng1423Test