المؤلفون: Ma, Dan, Zhang, Huiyuan, Yin, Le, Xu, Hao, Wu, Lida, Shaji, Rahul, Rezai, Fatema, Mulla, Ayesha, Kaur, Sukhteerath, Tan, Shengjiang, Kysela, Boris, Wang, Yilong, Chen, Zhiguo, Zhao, Chao, Gu, Yuchun

وصف الملف: text

العلاقة: https://publications.aston.ac.uk/id/eprint/45513/1/glia.24466.pdfTest; Ma, Dan , Zhang, Huiyuan, Yin, Le, Xu, Hao, Wu, Lida, Shaji, Rahul, Rezai, Fatema, Mulla, Ayesha, Kaur, Sukhteerath, Tan, Shengjiang, Kysela, Boris , Wang, Yilong, Chen, Zhiguo, Zhao, Chao and Gu, Yuchun (2024). Human iPSC ‐derived endothelial cells promote CNS remyelination via BDNF and mTORC1 pathway. GLIA, 72 (1), pp. 133-155.

الإتاحة: https://publications.aston.ac.uk/id/eprint/45513Test/
https://publications.aston.ac.uk/id/eprint/45513/1/glia.24466.pdfTest

المؤلفون: Machado, Heather e., Øbro, Nina f., Williams, Nicholas, Tan, Shengjiang, Boukerrou, Ahmed z., Davies, Megan, Belmonte, Miriam, Mitchell, Emily, Baxter, E. joanna, Mende, Nicole, Clay, Anna, Ancliff, Philip, Köglmeier, Jutta, Killick, Sally b., Kulasekararaj, Austin, Meyer, Stefan, Laurenti, Elisa, Campbell, Peter j., Kent, David g., Nangalia, Jyoti, Warren, Alan j.

المصدر: Machado , H E , Øbro , N F , Williams , N , Tan , S , Boukerrou , A Z , Davies , M , Belmonte , M , Mitchell , E , Baxter , E J , Mende , N , Clay , A , Ancliff , P , Köglmeier , J , Killick , S B , Kulasekararaj , A , Meyer , S , Laurenti , E , Campbell , P J , Kent , D G , Nangalia , J & Warren , A J 2023 , ' Convergent somatic evolution commences in ....

وصف الملف: application/pdf

العلاقة: https://research.manchester.ac.uk/en/publications/a8e58300-b46d-4384-b02f-9e62803aecf4Test

الإتاحة: https://doi.org/10.1038/s41467-023-40896-5Test
https://research.manchester.ac.uk/en/publications/a8e58300-b46d-4384-b02f-9e62803aecf4Test
https://pure.manchester.ac.uk/ws/files/275195517/41467_2023_Article_40896.pdfTest

المؤلفون: Costantini, Alice, Alm, Jessica J., Tonelli, Francesca, Valta, Helena, Huber, Celine, Tran, Anh N., Daponte, Valentina, Kirova, Nadi, Kwon, Yong-Uk, Bae, Jung Yun, Chung, Woo Yeong, Tan, Shengjiang, Sznajer, Yves, Nishimura, Gen, Nareoja, Tuomas, Warren, Alan J., Cormier-Daire, Valerie, Kim, Ok-Hwa, Forlino, Antonella, Cho, Tae-Joon, Mäkitie, Outi

المساهمون: HUS Children and Adolescents, Children's Hospital, University of Helsinki, Helsinki University Hospital Area, Clinicum, Lastentautien yksikkö, CAMM - Research Program for Clinical and Molecular Metabolism, Research Programs Unit

مصطلحات موضوعية: CRISPR-CAS9, INCOMPLETE PENETRANCE, RIBOSOMOPATHY, RPL13, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, VARIABLE EXPRESSIVITY, ZEBRAFISH, WEB TOOL, MUTATIONS, SKELETAL, GENE, CHOPCHOP, ENCODES, 3121 General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

العلاقة: This study was financially supported by the Academy of Finland (277843), the Sigrid Juselius Foundation, the Folkhalsan Research Foundation, the Novo Nordisk Foundation (21322), the Swedish Research Council (2603, 2013), and the Stockholm County Council to OM. This research was also supported by a grant of the Italian Ministry of Education, University and Research (MIUR) under the initiative "Dipartimenti di Eccellenza (2018-2022)" to AF. The work was also supported by a Specialist Programme from Bloodwise (12048) and the UK Medical Research Council (MC_U105161083) to AJW, a Wellcome Trust strategic award to the Cambridge Institute for Medical Research (100140), a core support grant from the Wellcome Trust and MRC to the Wellcome Trust-Medical Research Council Cambridge Stem Cell Institute and the Cambridge National Institute for Health Research Biomedical Research Centre. JJA is supported by grants from The Finnish Cultural Foundation, HKH Princess Lovisa's foundation for child health care and Sallskapet Barnavard in Stockholm.; Costantini , A , Alm , J J , Tonelli , F , Valta , H , Huber , C , Tran , A N , Daponte , V , Kirova , N , Kwon , Y-U , Bae , J Y , Chung , W Y , Tan , S , Sznajer , Y , Nishimura , G , Nareoja , T , Warren , A J , Cormier-Daire , V , Kim , O-H , Forlino , A , Cho , T-J & Mäkitie , O 2021 , ' NovelRPL13Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia ' , Journal of Bone and Mineral Research , vol. 36 , no. 2 , pp. 283-297 . https://doi.org/10.1002/jbmr.4177Test; ORCID: /0000-0002-4547-001X/work/155651795; http://hdl.handle.net/10138/353233Test; 17112cdf-8886-4183-9cc6-48af01a5fc59; 000578753500001

الإتاحة: http://hdl.handle.net/10138/353233Test

المؤلفون: Machado, Heather E, Øbro, Nina F, Williams, Nicholas, Tan, Shengjiang, Boukerrou, Ahmed Z, Davies, Megan, Belmonte, Miriam, Mitchell, Emily, Baxter, E Joanna, Mende, Nicole, Clay, Anna, Ancliff, Philip, Köglmeier, Jutta, Killick, Sally B, Kulasekararaj, Austin, Meyer, Stefan, Laurenti, Elisa, Campbell, Peter J, Kent, David G, Nangalia, Jyoti, Warren, Alan J

مصطلحات موضوعية: Humans, Young Adult, Adult, Germ Cells, Chromosomes, Human, Pair 7, Gene Dosage, Hematopoietic Stem Cells, Mutation

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/354443Test; https://doi.org/10.17863/CAM.100232Test

الإتاحة: https://doi.org/10.17863/CAM.100232Test
https://www.repository.cam.ac.uk/handle/1810/354443Test

المؤلفون: Ma, Dan, Zhang, Huiyuan, Yin, Le, Xu, Hao, Wu, Lida, Shaji, Rahul, Rezai, Fatema, Mulla, Ayesha, Kaur, Sukhteerath, Tan, Shengjiang, Kysela, Boris, Wang, Yilong, Chen, Zhiguo, Zhao, Chao, Gu, Yuchun

المساهمون: Aston University, Royal Society

المصدر: Glia ; volume 72, issue 1, page 133-155 ; ISSN 0894-1491 1098-1136

الإتاحة: https://doi.org/10.1002/glia.24466Test

المؤلفون: Jaako, Pekka, Faille, Alexandre, Tan, Shengjiang, Wong, Chi C, Escudero-Urquijo, Norberto, Castro-Hartmann, Pablo, Wright, Penny, Hilcenko, Christine, Adams, David J, Warren, Alan J

المصدر: nlmid: 101528555 ; essn: 2041-1723

مصطلحات موضوعية: Animals, Leukemia, Mammals, Mice, Proteins, Ribosome Subunits, Large, Eukaryotic, Ribosomes, Shwachman-Diamond Syndrome

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/336404Test

الإتاحة: https://doi.org/10.17863/CAM.83821Test
https://www.repository.cam.ac.uk/handle/1810/336404Test

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: Costantini, Alice, Alm, Jessica J, Tonelli, Francesca, Valta, Helena, Huber, Céline, Tran, Anh N, Daponte, Valentina, Kirova, Nadi, Kwon, Yong-Uk, Bae, Jung Yun, Chung, Woo Yeong, Tan, Shengjiang, Sznajer, Yves, Nishimura, Gen, Näreoja, Tuomas, Warren, Alan J, Cormier-Daire, Valérie, Kim, Ok-Hwa, Forlino, Antonella, Cho, Tae-Joon, Mäkitie, Outi

المساهمون: UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de référence neuromusculaire, UCL - SSS/IREC/SLUC - Pôle St.-Luc

المصدر: Journal of bone and mineral research, Vol. 36, no. 2, p. 283-297 (2021)

مصطلحات موضوعية: Animals, Biological Variation, Population, Humans, Neoplasm Proteins, Osteochondrodysplasias, Pedigree, Ribosomal Proteins, Spine, Zebrafish, CRISPR-CAS9, RPL13, Incomplete penetrance, Ribosomopathy, Spondyloepimetaphyseal dysplasia, Variable expressivity

العلاقة: boreal:261829; http://hdl.handle.net/2078.1/261829Test; info:pmid/32916022; urn:ISSN:0884-0431; urn:EISSN:1523-4681

الإتاحة: https://doi.org/10.1002/jbmr.4177Test
http://hdl.handle.net/2078.1/261829Test

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/fileTest/Tan%20et%20al.%20-%202021%20-%20Somatic%20genetic%20rescue%20of%20a%20germline%20ribosome%20asse.pdf

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/fileTest/Tan%20et%20al.%20-%202021%20-%20Somatic%20genetic%20rescue%20of%20a%20germline%20ribosome%20asse.pdf

المؤلفون: Domingues, Ana Filipa, Kulkarni, Rashmi, Giotopoulos, George, Gupta, Shikha, Vinnenberg, Laura, Arede, Liliana, Foerner, Elena, Khalili, Mitra, Adao, Rita Romano, Johns, Ayona, Tan, Shengjiang, Zeka, Keti, Huntly, Brian J, Prabakaran, Sudhakaran, Pina, Cristina

مصطلحات موضوعية: Kat2a, Single-cell RNA seq, acute myeloid leukaemia, cancer biology, chromosomes, epigenetics, gene expression, mouse, transcriptional bursting, transcriptional heterogeneity, Animals, Chromatin, Histone Acetyltransferases, Humans, Leukemia, Myeloid, Acute, Mice, Knockout, Neoplastic Stem Cells, Single-Cell Analysis, Transcription, Genetic, Transcriptome

وصف الملف: Electronic; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/303706Test

الإتاحة: https://doi.org/10.17863/CAM.50784Test
https://www.repository.cam.ac.uk/handle/1810/303706Test