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المؤلفون: Karina Close, Jun Wang, Tahrima Rahim, Sameena Iqbal, Findlay Bewicke-Copley, Andrew Clear, Martin Philpott, Annalisa D'Avola, Lola Konali, James A. Heward, Emil Kumar, Udo Oppermann, Richard Neve, Maria Calaminici, Pedro R. Cutillas, Jessica Okosun, Peter Johnson, Koorosh Korfi, John G. Gribben, Darko Barisic, Ahad F. Al Seraihi, James E. Dunford, Alison Yeomans, Ari Melnick, Shamzah Araf, Jude Fitzgibbon, Graham Packham
المصدر: Blood
مصطلحات موضوعية: 0301 basic medicine, Immunology, Mutant, medicine.disease_cause, Biochemistry, Mice, 03 medical and health sciences, 0302 clinical medicine, Loss of Function Mutation, Cell Line, Tumor, Gene expression, medicine, Animals, Humans, Enzyme Inhibitors, Mutation, biology, Chemistry, Germinal center, Cell Biology, Hematology, Methylation, medicine.disease, Xenograft Model Antitumor Assays, Neoplasm Proteins, Lymphoma, DNA-Binding Proteins, 030104 developmental biology, Histone, biology.protein, Cancer research, H3K4me3, Lymphoma, Large B-Cell, Diffuse, Erratum, Retinoblastoma-Binding Protein 2, 030215 immunology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c69f75b8e11d8e8cb74d2e87d8a74550
https://ora.ox.ac.uk/objects/uuid:7efc616c-0a6f-4725-8739-6ff679a99852 -
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المؤلفون: Lola Koniali, Karina Close, Richard Neve, Maria Calaminici, Martin Philpott, Tahrima Rahim, Ahad F. Al Seraihi, Alison Yeomans, John G. Gribben, Findlay Bewicke-Copley, Andrew Clear, Jude Fitzgibbon, Graham Packham, James A. Heward, Jessica Okosun, Koorosh Korfi, Emil Kumar, Peter Johnson, Sameena Iqbal, Ari Melnick, Shamzah Araf, Udo Oppermann, James E. Dunford, Jun Wang, Annalisa D'Avola, Darko Barisic
مصطلحات موضوعية: biology, Cell culture, Histone methyltransferase, Mutant, Gene expression, biology.protein, Cancer research, Demethylase, H3K4me3, Endogeny, Gene
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::767ce07069098562f94d88c6d06275e7
https://doi.org/10.1101/2020.06.30.177477 -
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المؤلفون: Moheieldin Abouzied, Moneerah AlGassim, Saleem AlShehri, Ahad F. Al Seraihi, Majed Dasouki, Saleh AlReshoodi, AlFadel AlShaibani, Walter Conca, Issam Hamadah, Farrukh Sheikh
المصدر: Hematology/Oncology and Stem Cell Therapy.
مصطلحات موضوعية: biology, GATA2 Deficiency, business.industry, GATA2, Autoimmunity, Hematology, General Medicine, Immunoglobulin E, medicine.disease_cause, GATA2 Transcription Factor, Lymphatic system, Oncology, Mutation, EMBERGER SYNDROME, Mutation (genetic algorithm), Immunology, biology.protein, medicine, Humans, business
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المؤلفون: Aline Renneville, Judith C. W. Marsh, Carolyn Owen, Andrew Green, Rogier Mous, Jude Fitzgibbon, Andrew R. Hallahan, David Taussig, Jun Wang, Josep F. Nomdedeu, Ahad F. Al Seraihi, Mark Layton, Nikolas Pontikos, Doris Steinemann, Kim Reay, Vincent Plagnol, Rachel Protheroe, Tim Ripperger, Susanna Akiki, Joanne Mason, Upal Hossain, Henrik Hjorth-Hansen, Anne Uyttebroeck, Amanda J. Walne, Nigel H. Russell, Jenna Alnajar, Nele Hug, Claude Preudhomme, Jamie Cavenagh, Findlay Bewicke-Copley, Csaba Bödör, Kiran Tawana, Adrian Bloor, Cynthia L. Toze, Alicia Ellison, Paula Page, Gabriela Sciuccati, Inderjeet Dokal, Tom Vulliamy, John K. Wu, Jiri Pavlu, Peter Vandenberghe, Hemanth Tummala, Elspeth Payne, Michael L. Barnett, David T. Bowen, Brigitte Schlegelberger, Priyanka Mehta, Ana Rio-Machin, Alison Male, Shirleny Cardoso, Hannah Armes, Anand Saggar, Sarah Lawson, Nuria Pujol-Moix, Javier F. Cáceres, Pierre Fenaux, Sally Killick
المصدر: Nature Communications
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Rio-machin, A, Vulliamy, T, Hug, N, Walne, A, Tawana, K, Cardoso, S, Ellison, A, Pontikos, N, Wang, J, Tummala, H, Al Seraihi, A F, Alnajar, J, Bewicke-Copley, F, Armes, H, Barnett, M, Bloor, A, Bodor, C, Bowen, D, Fenaux, P, Green, A, Hallahan, A, Hjorth-Hansen, H, Hossain, U, Killick, S, Lawson, S, Layton, M, Male, A M, Marsh, J, Mehta, P, Mous, R, Nomdedeu, J F, Owen, C, Pavlu, J, Payne, E, Protheroe, R, Predhomme, C, Pujol-Moix, N, Renneville, A, Russell, N, Saggar, A, Sciuccati, G, Taussig, D, Toze, C, Uyttebroeck, A, Vandenberghe, P, Schlegelberger, B, Ripperger, T, Steinemann, D, Wu, J, Mason, J, Page, P, El Akiki, S, Reay, K, Cavenagh, J D, Plagnol, V, Caceres, J F, Fitzgibbon, J & Dokal, I 2020, ' The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants ', Nature Communications . https://doi.org/10.1038/s41467-020-14829-5
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instnameمصطلحات موضوعية: 0301 basic medicine, Myeloid, Adenosine Deaminase, Vesicular Transport Proteins, General Physics and Astronomy, DYSKERATOSIS-CONGENITA, Whole Exome Sequencing, Cohort Studies, 0302 clinical medicine, hemic and lymphatic diseases, CEBPA, Cancer genomics, RUNX1 MUTATIONS, lcsh:Science, Exome sequencing, MYELODYSPLASTIC SYNDROME, Genetics, Multidisciplinary, Receptors, Interleukin-17, Myeloid leukemia, SAMD9L MUTATIONS CAUSE, Pedigree, Multidisciplinary Sciences, Leukemia, Leukemia, Myeloid, Acute, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Science & Technology - Other Topics, RNA Helicases, Platelet disorder, Science, LINE, ACUTE MYELOID-LEUKEMIA, Platelet Membrane Glycoproteins, Biology, General Biochemistry, Genetics and Molecular Biology, Article, Acute myeloid leukaemia, 03 medical and health sciences, Germline mutation, PLATELET DISORDER, Exome Sequencing, medicine, Humans, MECHANISTIC INSIGHTS, Germ-Line Mutation, Adaptor Proteins, Signal Transducing, Science & Technology, Perforin, Myelodysplastic syndromes, General Chemistry, Axonemal Dyneins, medicine.disease, Nonsense Mediated mRNA Decay, SELF-RENEWAL, 030104 developmental biology, Myelodysplastic Syndromes, lcsh:Q
وصف الملف: Electronic; application/pdf
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المؤلفون: Jasmin K Sidhu, Michael Kirwan, Alice Norton, Matthew W Jenner, Helen Enright, Amanda J. Walne, Nikolas Pontikos, Ahad F. Al Seraihi, Tekin Aksu, Owen P. Smith, Isobel Browne, Alicia Ellison, Inderjeet Dokal, Pedro R. Cutillas, Tom Vulliamy, Vinothini Rajeeve, Hemanth Tummala, Namik Ozbek, Ana Rio-Machin, Saranha Amirthasigamanipillai, Shirleny Cardoso, Andrew S Duncombe, Arran Dokal
المصدر: Proceedings of the National Academy of Sciences. 115:7777-7782
مصطلحات موضوعية: 0301 basic medicine, Genome instability, Multidisciplinary, biology, DNA repair, RNA, RNA polymerase II, Molecular biology, 03 medical and health sciences, 030104 developmental biology, Transcription (biology), Transcription preinitiation complex, biology.protein, Gene, Nucleotide excision repair
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bc9496b6fcdfaae05844130324189bc4
https://doi.org/10.1073/pnas.1803275115 -
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المؤلفون: Ahad F. Al Seraihi, Ana Rio-Machin, Kiran Tawana, Sarah Charrot, Doriana Di Bella, Csaba Bödör, Tom Butler, Timothy Farren, Marianne Grantham, Jude Fitzgibbon
المصدر: Genomics and Clinical Diagnostics ISBN: 9781782628217
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المؤلفون: Carmen Rodríguez-Vigil, Inderjeet Dokal, Hemanth Tummala, Nikolas Pontikos, Alicia Ellison, Manoj Raghavan, Bieke Dobbels, Ana Rio-Machin, David Cassiman, Bhuvan Kishore, Amanda J. Walne, Ahad F. Al Seraihi, Shirleny Cardoso, Tom Vulliamy, Philip Ancliff
المصدر: Haematologica. 102(8)
مصطلحات موضوعية: 0301 basic medicine, Male, Population, Biology, Germline, 03 medical and health sciences, Loss of Function Mutation, medicine, Missense mutation, Humans, Family, education, Online Only Articles, Exome, Telomere Shortening, Genetics, education.field_of_study, Liver Diseases, Bone marrow failure, DNA Helicases, Genetic Variation, Hematology, Bystander Effect, Telomere, medicine.disease, Pedigree, Minor allele frequency, Leukemia, 030104 developmental biology, Myelodysplastic Syndromes, Female, Dyskeratosis congenita
وصف الملف: Print-Electronic; application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b76d6bfa2a48134cf25545b8a5eca99
https://pubmed.ncbi.nlm.nih.gov/28495916 -
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المؤلفون: Jude Fitzgibbon, András Matolcsy, Marianna Zombori, Kiran Tawana, Judit Csomor, Gábor Benyó, Jun Wang, Ana Rio-Machin, Csaba Bödör, Péter Attila Király, Krisztián Kállay, Ahad F. Al Seraihi, Claude Chelala, Jamie Cavenagh
المصدر: European journal of human genetics : EJHG. 25(8)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Platelet disorder, Short Report, Biology, Germline, Leukemia, Myelomonocytic, Acute, 03 medical and health sciences, chemistry.chemical_compound, Germline mutation, hemic and lymphatic diseases, Genetics, medicine, Humans, Child, Genetics (clinical), Germ-Line Mutation, Adaptor Proteins, Signal Transducing, Acute leukemia, Intracellular Signaling Peptides and Proteins, Proteins, Janus Kinase 2, medicine.disease, Uniparental disomy, Pedigree, Leukemia, 030104 developmental biology, RUNX1, chemistry, Codon, Nonsense, Acute myelomonocytic leukemia, Core Binding Factor Alpha 2 Subunit, Cancer research, Female, Signal Transduction
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المؤلفون: Csaba Bödör, Leire Escudero-Ibarz, Andrew Davies, Rachel L. Wolfson, Hilmar Quentmeier, Reiner Siebert, Ahad F. Al Seraihi, Sameena Iqbal, Claude Chelala, Julia Richter, Janet Matthews, Ming-Qing Du, Jessica Okosun, Lucy Wilkins, Andrew Jack, Stephan H. Bernhart, Sharon Barrans, Silvia Montoto, Peter Johnson, Shamzah Araf, T. Andrew Lister, Alejo Efeyan, David M. Sabatini, Jonathan C. Strefford, Maria Calaminici, Andrew Clear, Rebecca Auer, Graham Packham, John G. Gribben, José Afonso Guerra-Assunção, Christopher Mansbridge, Roberto Zoncu, Jude Fitzgibbon, Jun Wang, Brian M. Castellano
المساهمون: Massachusetts Institute of Technology. Department of Biology, Whitehead Institute for Biomedical Research, Koch Institute for Integrative Cancer Research at MIT, Sabatini, David, Wolfson, Rachel Laura, Efeyan, Alejo
المصدر: PMC
مصطلحات موضوعية: 0301 basic medicine, Molecular Sequence Data, Follicular lymphoma, Mechanistic Target of Rapamycin Complex 1, Gene mutation, Biology, medicine.disease_cause, Article, 03 medical and health sciences, Genetics, medicine, Animals, Humans, Amino Acid Sequence, B-cell lymphoma, Lymphoma, Follicular, Exome, Monomeric GTP-Binding Proteins, Mutation, Sequence Homology, Amino Acid, TOR Serine-Threonine Kinases, medicine.disease, Lymphoma, 030104 developmental biology, Multiprotein Complexes, Cancer research, Clone (B-cell biology), Diffuse large B-cell lymphoma
وصف الملف: text; application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71b53d4ae3d0eda133eb3378544d36e6
https://europepmc.org/articles/PMC4731318/ -
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المؤلفون: Sameena Iqbal, Shirleny Cardoso, James A. Heward, Inderjeet Dokal, Tom Vulliamy, Steven Best, Alicia Ellison, Jamie Cavenagh, Nicholas Lea, Hemanth Tummala, Jude Fitzgibbon, Csaba Bödör, Matthew Smith, Ahad F. Al Seraihi, Kiran Tawana, Ana Rio-Machin, Shamzah Araf, Donal P. McLornan
المصدر: Blood. 128:3916-3916
مصطلحات موضوعية: 0301 basic medicine, Genetics, Chromosome 7 (human), Mutation, Monosomy, Immunology, Single-nucleotide polymorphism, Cell Biology, Hematology, Biology, medicine.disease_cause, medicine.disease, Biochemistry, Penetrance, Germline, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Germline mutation, 030220 oncology & carcinogenesis, medicine, Allele
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f4b9abbaed4f6f507e3297865096e135
https://doi.org/10.1182/blood.v128.22.3916.3916
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