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المؤلفون: Jacqueline Boultwood, Emmanouela Repapi, Christopher J. Smith, Richard N. Armstrong, Eva Hellström-Lindberg, Thomas Luft, Sally Killick, Stephen S. Taylor, Marco L. Hennrich, Anne-Claude Gavin, Eshita Sharma, Helen Lockstone, Luca Malcovati, Andrea Sanchi, Angela Hamblin, Paresh Vyas, Andrea Pellagatti, Anna Schuh, Hamid Dolatshad, Stephen Smith, Violetta Steeples, Aleksandar Radujkovic, Patrick Horn, Mario Cazzola, John Broxholme, Swagata Roy, Anthony D. Ho, Elli Papaemmanuil, Shalini Singh, Aristoteles Giagounidis
المساهمون: Pellagatti, Andrea [0000-0002-6122-0221], Armstrong, Richard N [0000-0001-7744-5890], Boultwood, Jacqueline [0000-0002-4330-2928], Apollo - University of Cambridge Repository
المصدر: Blood, Vol. 132, No 12 (2018) pp. 1225-1240
مصطلحات موضوعية: 0301 basic medicine, Spliceosome, Splicing Factor U2AF/genetics, DNA Repair, RNA Splicing, Immunology, Serine-Arginine Splicing Factors/genetics, Biology, medicine.disease_cause, Biochemistry, Cohort Studies, 03 medical and health sciences, Splicing factor, Phosphoproteins/genetics, hemic and lymphatic diseases, medicine, Humans, RNA Splicing Factors/genetics, Spliceosomes/genetics, Gene, Myelodysplastic Syndromes/epidemiology/genetics, Regulation of gene expression, Gene knockdown, Mutation, Serine-Arginine Splicing Factors, Cell Biology, Hematology, Phosphoproteins, Splicing Factor U2AF, Survival Analysis, Phenotype, 030104 developmental biology, Gene Expression Regulation, Myelodysplastic Syndromes, RNA splicing, Spliceosomes, Cancer research, RNA Splicing Factors
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b773e0b61d3878902521ca0a229634f
https://doi.org/10.1182/blood-2018-04-843771 -
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المؤلفون: Helen Lockstone, Dominique Gauguier, Jennifer M. Taylor, Christina Fernandez, Cecilia M. Lindgren, Amy Barrett, Jiannis Ragoussis, Mark I. McCarthy, Blanca M. Herrera, Pamela J. Kaisaki, Quin F. Wills, Carme Camps
المساهمون: The Wellcome Trust Centre for Human Genetics [Oxford], University of Oxford [Oxford], Endocrinology and Metabolism, The Churchill Hospital-Oxford Centre for Diabetes, Department of Statistics [Oxford], Centre de Recherche des Cordeliers (CRC (UMR_S 872)), Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Funding for this study was provided by Diabetes UK (grant code BDA: RD06/0003287) the Throne-Holst Foundation and Nuffield Department of Medicine. DG holds a Wellcome Senior Fellowship in Basic Biomedical Science (057733). C.M.L. is a Wellcome Trust Research Career Development Fellow (086596)., University of Oxford, Wellcome Trust Centre for Human Genetics, Department of Statistics, Centre de Recherche des Cordeliers ( CRC (UMR_S 872) ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), BMC, Ed.
المصدر: BMC Medical Genomics, Vol 2, Iss 1, p 54 (2009)
BMC Medical Genomics
BMC Medical Genomics, BioMed Central, 2009, 2 (1), pp.54. ⟨10.1186/1755-8794-2-54⟩
BMC Medical Genomics, 2009, 2 (1), pp.54. ⟨10.1186/1755-8794-2-54⟩
BMC Medical Genomics, BioMed Central, 2009, 2 (1), pp.54. 〈10.1186/1755-8794-2-54〉مصطلحات موضوعية: lcsh:Internal medicine, lcsh:QH426-470, medicine.medical_treatment, Adipose tissue, Biology, 03 medical and health sciences, 0302 clinical medicine, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], microRNA, Gene expression, Genetics, medicine, Glucose homeostasis, Genetics(clinical), lcsh:RC31-1245, Gene, Genetics (clinical), 030304 developmental biology, 2. Zero hunger, Regulation of gene expression, 0303 health sciences, Insulin, Molecular biology, lcsh:Genetics, [ SDV.BBM.GTP ] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], 030220 oncology & carcinogenesis, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], DNA microarray, Research Article
وصف الملف: application/pdf
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المؤلفون: James Scott, Sophie Calderari, Helen Waller-Evans, Helen Lockstone, Christophe Hue, Jean-Baptiste Cazier, Steven P. Wilder, Dominique Gauguier, Jane F. Fearnside, Alice R. Rothwell
المساهمون: The Wellcome Trust Centre for Human Genetics [Oxford], University of Oxford [Oxford], UMRS 872, Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Cardiométabolisme et Nutrition - Institute of Cardiometabolism and Nutrition, Imperial College London, University of Oxford, Centre de Recherche des Cordeliers (CRC (UMR_S 872)), Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), ProdInra, Migration
المصدر: Plos One 12 (8), 1-12. (2013)
PLoS ONE
PLoS ONE, Public Library of Science, 2013, 8 (12), pp.1-12. ⟨10.1371/journal.pone.0082825⟩
PLoS ONE, 2013, 8 (12), pp.1-12. ⟨10.1371/journal.pone.0082825⟩
PLoS ONE, Vol 8, Iss 12, p e82825 (2013)مصطلحات موضوعية: Male, Peroxisome proliferator-activated receptor, lcsh:Medicine, souris, Transcriptome, Mice, 0302 clinical medicine, Nutrigenomics, Non-alcoholic Fatty Liver Disease, lcsh:Science, nutrigénomique, 2. Zero hunger, chemistry.chemical_classification, Regulation of gene expression, [SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, 0303 health sciences, Multidisciplinary, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Fatty liver, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Adaptation, Physiological, 3. Good health, obésité, Biochemistry, Liver, Endocrinologie et métabolisme, Disease Susceptibility, Signal Transduction, Research Article, expression des gènes, medicine.medical_specialty, Proteasome Endopeptidase Complex, Médecine humaine et pathologie, 030209 endocrinology & metabolism, Biology, Diet, High-Fat, 03 medical and health sciences, Insulin resistance, Internal medicine, medicine, Animals, Obesity, 030304 developmental biology, Endocrinology and metabolism, Gene Expression Profiling, lcsh:R, Reproducibility of Results, medicine.disease, Lipid Metabolism, Gene expression profiling, Fatty Liver, Endocrinology, Glucose, proteasome, chemistry, Gene Expression Regulation, lcsh:Q, Human health and pathology, maladie du foie, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
وصف الملف: application/pdf
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المؤلفون: Julie Adam, Peter Carmeliet, Natasha Sahgal, Emine Hatipoglu, Peter J. Ratcliffe, Patrick J. Pollard, Tomoyoshi Soga, Marcus Stevens, Linda O'Flaherty, Gordon Stamp, Emma Nye, Helen Lockstone, Patrick H. Maxwell, Nicola Ternette, Dilair Baban, Benedikt M. Kessler, Christopher W. Pugh, Kathryn Wolhuter, Mona El-Bahrawy, Roman Fischer, Norma Frizzell
المصدر: Adam, J, Hatipoglu, E, O'Flaherty, L, Ternette, N, Sahgal, N, Lockstone, H, Baban, D, Nye, E, Stamp, G W, Wolhuter, K, Stevens, M, Fischer, R, Carmeliet, P, Maxwell, P H, Pugh, C W, Frizzell, N, Soga, T, Kessler, B M, El-Bahrawy, M, Ratcliffe, P J & Pollard, P J 2011, ' Renal cyst formation in Fh1-deficient mice is independent of the Hif/Phd pathway : roles for fumarate in KEAP1 succination and Nrf2 signaling ', Cancer Cell, vol. 20, no. 4, pp. 524-37 . https://doi.org/10.1016/j.ccr.2011.09.006
مصطلحات موضوعية: Cancer Research, NF-E2-Related Factor 2, Procollagen-Proline Dioxygenase, Biology, medicine.disease_cause, Antioxidants, Fumarate Hydratase, 03 medical and health sciences, Mice, 0302 clinical medicine, Downregulation and upregulation, Fumarates, medicine, Animals, 030304 developmental biology, Adaptor Proteins, Signal Transducing, Regulation of gene expression, 0303 health sciences, Succinates, Cell Biology, Kidney Diseases, Cystic, KEAP1, Cell Hypoxia, 3. Good health, Cell biology, Gene Expression Regulation, Neoplastic, Cytoskeletal Proteins, Oncology, Biochemistry, Hypoxia-inducible factors, 030220 oncology & carcinogenesis, Fumarase, Procollagen-proline dioxygenase, Hypoxia-Inducible Factor 1, Signal transduction, Carcinogenesis, Signal Transduction
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::763d42cdfb768945e7d7ff509def19c9
https://hdl.handle.net/20.500.11820/4c767c53-cd91-41ec-b1f2-225da1e2fd78 -
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المؤلفون: Peter L. Oliver, Simon E. Fisher, Elizabeth Spiteri, Natasha Sahgal, Dilair Baban, Rathi Puliyadi, Ernesto Lowy, Daniel H. Geschwind, Matthias Groszer, Jean-Baptiste Cazier, Jiannis Ragoussis, Joses Ho, Kay E. Davies, Cedric Mombereau, Ariel Brewer, Helen Lockstone, Sonja C. Vernes, Jérôme Nicod, Jennifer M. Taylor
المساهمون: Akey, Joshua M, The Wellcome Trust Centre for Human Genetics [Oxford], University of Oxford [Oxford], Medical Research Council Functional Genetics Unit, Program in Neurogenetics, University of California [Los Angeles] (UCLA), University of California-University of California, Institut du Fer à Moulin, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Human Genetics, UCLA, University of California-University of California-Semel Institute, Language and Genetics Department, Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft-Max-Planck-Gesellschaft, This work was supported by the Wellcome Trust (grant numbers 075491 and 080971), the Royal Society (fellowship to SEF), Autism Speaks, the Simons Foundation Autism Research Initiative (SFARI, grant number 137593 to SEF), and the Max Planck Society. SCV was supported by the Christopher Welch Biological Sciences Scholarship and the Wellcome Trust V.I.P programme. JN was supported by a Marie Curie Intra-European Fellowship. HEL, NS, JBC, DB and JR were supported by the Wellcome Trust Core Grant Award (grant number 075491/Z/04). MG and CM are supported by the Ecole des Neurosciences de Paris Ile-de-France (ENP) and the Inserm AVENIR programme. This research was supported in part by National Institutes of Health (NIH) grant 5R21MH075028. ES was supported by NIH grant T32GM008243., Autard, Delphine, University of Oxford, University of California (UC)-University of California (UC), University of California (UC)-University of California (UC)-Semel Institute
المصدر: PLoS genetics, vol 7, iss 7
PLoS Genetics
PLoS Genetics, Public Library of Science, 2011, 7 (7), pp.e1002145. ⟨10.1371/journal.pgen.1002145⟩
PLoS Genetics, Vol 7, Iss 7, p e1002145 (2011)
PLoS Genetics, 2011, 7 (7), pp.e1002145. ⟨10.1371/journal.pgen.1002145⟩مصطلحات موضوعية: Cancer Research, Messenger, Gene regulatory network, Gene Expression, [SDV.GEN] Life Sciences [q-bio]/Genetics, Bioinformatics, Inbred C57BL, MESH: Corpus Striatum, Mice, 0302 clinical medicine, Models, MESH: Gene Expression Regulation, Developmental, 2.1 Biological and endogenous factors, MESH: Animals, Developmental, Gene Regulatory Networks, Aetiology, Neurolinguistics, Genetics (clinical), MESH: Gene Regulatory Networks, Oligonucleotide Array Sequence Analysis, Regulation of gene expression, MESH: Chromatin Immunoprecipitation, 0303 health sciences, FOXP2 Gene, Tumor, Rehabilitation, Gene Expression Regulation, Developmental, Brain, FOXP2, Forkhead Transcription Factors, Genomics, MESH: Repressor Proteins, Neurological, Mental health, Functional genomics, Research Article, Biotechnology, Chromatin Immunoprecipitation, MESH: Mutation, MESH: Cell Line, Tumor, Neurite, lcsh:QH426-470, 1.1 Normal biological development and functioning, Primary Cell Culture, Biology, Models, Biological, Cell Line, Molecular Genetics, MESH: Primary Cell Culture, 03 medical and health sciences, MESH: Brain, MESH: Gene Expression Profiling, Developmental Neuroscience, MESH: Mice, Inbred C57BL, MESH: Forkhead Transcription Factors, Underpinning research, Cell Line, Tumor, Neurites, Genetics, Animals, RNA, Messenger, Gene Networks, Molecular Biology, MESH: Mice, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, MESH: RNA, Messenger, [SDV.GEN]Life Sciences [q-bio]/Genetics, Gene Expression Profiling, Human Genome, MESH: Models, Biological, Neurosciences, Biological, MESH: Neurites, Corpus Striatum, Mice, Inbred C57BL, Gene expression profiling, Repressor Proteins, lcsh:Genetics, Gene Expression Regulation, Cellular Neuroscience, Genetics of Disease, Synaptic plasticity, MESH: Oligonucleotide Array Sequence Analysis, Mutation, RNA, Gene Function, Molecular Neuroscience, Animal Genetics, Neuroscience, 030217 neurology & neurosurgery, Developmental Biology
وصف الملف: application/pdf
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المؤلفون: Anna C. Michell, Nigel A. Brown, Jamie Bentham, Helen Lockstone, Jürgen E. Schneider, Shoumo Bhattacharya, Daniel Andrew
المصدر: Human Molecular Genetics
مصطلحات موضوعية: Male, medicine.medical_specialty, Genotype, Mammalian embryology, Biology, Mice, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Internal medicine, Genetics, medicine, Animals, Humans, Maternal-Fetal Exchange, Molecular Biology, Genetics (clinical), Body Patterning, 030304 developmental biology, Homeodomain Proteins, 2. Zero hunger, Regulation of gene expression, 0303 health sciences, PITX2, Neural tube, Gene Expression Regulation, Developmental, Embryo, Articles, General Medicine, Embryo, Mammalian, medicine.disease, Dietary Fats, Penetrance, Embryonic stem cell, Mice, Inbred C57BL, Repressor Proteins, Endocrinology, medicine.anatomical_structure, Agenesis, Trans-Activators, Female, 030217 neurology & neurosurgery, Transcription Factors
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a18d48c9aa7d549e5c48c281f455ce23
http://ora.ox.ac.uk/objects/uuid:78952934-905a-4307-b95d-9ac7a67222a5 -
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المؤلفون: Margaret Ryan, Sabine Bahn, Helen Lockstone, Matthew T. Wayland, S. J. Huffaker, Maree J. Webster
المصدر: Molecular psychiatry. 11(10)
مصطلحات موضوعية: Adult, Male, Bipolar Disorder, Prefrontal Cortex, Biology, Synaptic Transmission, Receptors, G-Protein-Coupled, Cellular and Molecular Neuroscience, Reference Values, medicine, Humans, Bipolar disorder, RNA, Messenger, Prefrontal cortex, Molecular Biology, Oligonucleotide Array Sequence Analysis, Regulation of gene expression, Cerebral Cortex, Microarray analysis techniques, Ubiquitin, Gene Expression Profiling, Middle Aged, medicine.disease, Frontal Lobe, Dorsolateral prefrontal cortex, Gene expression profiling, Psychiatry and Mental health, Protein Transport, medicine.anatomical_structure, Gene Expression Regulation, Gene chip analysis, Orbitofrontal cortex, Female, Neuroscience, Signal Transduction
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