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1رسالة جامعيةLinks between chromatin structure and regulation of alternative pre-mRNA splicing in mammalian cells
المؤلفون: Iannone, Camilla
المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut
مرشدي الرسالة: Valcárcel, J. (Juan)
المصدر: TDX (Tesis Doctorals en Xarxa)
مصطلحات موضوعية: Splicing, pre-mRNA, Chromatin, Nucleosomes, ENCODE, Progesterone, Transcription, RNA pol II, Alternative Splicing, Exon cassette, Empalme, Cromatina, Nucleosomas, Progesterona, Intrones, Exones, Epigenética, ChIP-Seq
وصف الملف: application/pdf
URL الوصول: http://hdl.handle.net/10803/301439
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2دورية أكاديمية
المؤلفون: Franklin Aldecoa
المصدر: Acta Médica Peruana, Vol 37, Iss 2 (2020)
مصطلحات موضوعية: Cáncer colorrectal, /genética, Mutación, Exones, Medicine
وصف الملف: electronic resource
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المؤلفون: Cazurro Gutiérrez, Ana Laura
المصدر: RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia
instnameمصطلحات موضوعية: musculoskeletal diseases, Duchenne muscular dystrophy, Dystrophin, Distrofia muscular de Duchenne, BIOQUIMICA Y BIOLOGIA MOLECULAR, Grado en Biotecnología-Grau en Biotecnologia, Deletion of exons 45-55, Deleción de exones 45-55, CRISPR/Cas9, Off targets, Distrofina
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b2ddb284dc75f877462b7028a7ce33b0
https://hdl.handle.net/10251/124857 -
4دورية أكاديمية
المؤلفون: Pie, J., Casals, N., Puisac, B., Hegardt, F. G.
المصدر: Journal of Physiology and Biochemistry: Official Journal of the University of Navarra, Spain. December 2003 59(4):311-321
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5دورية أكاديمية
المؤلفون: Alicia Vaglio, Marnels Ferreira, Ana Luisa Panuncio, María Antonia Castagnola, Matías Pebet, Soledad De la Peña, Roberto Quadrelli
المصدر: Revista Médica del Uruguay, Vol 24, Iss 1 (2008)
مصطلحات موضوعية: CADASIL, EXONES, RECEPTORES NOTCH, MUTACIÓN, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
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المؤلفون: Rincón Sandoval, Cindy Melissa
المساهمون: Maldonado Ocampo, Javier Alejandro, Betancur Rodríguez, Ricardo, Forero Fuentes, Igor Dimitri, Ruiz Garcia, Manuel, Salazar Clavijo, Camilo Andres, Daza, Juan Manuel, Márquez Fernández, Edna Judith
المصدر: Repositorio Universidad Javeriana
Pontificia Universidad Javeriana
instacron:Pontificia Universidad Javerianaمصطلحات موضوعية: Diversidad biológica, Peces - Identificación, Filogeografía comparada, Captura de exones, Doctorado en ciencias biológicas - Tesis y disertaciones académicas, Peces de agua dulce, Trans-Andean region, Ostariophysi, Comparative phylogeography, Población de peces, Región trans-Andina, Freshwater fishes, Exon capture
وصف الملف: PDF; application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3056::d0c80e86343ed80decd7c9b9c8bfec7e
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المؤلفون: Alessandra C. Martini, Kristine Minh Tran, Kelly Do Huynh, Cristina Nuñez-Diaz, Franklin Garcia, Celia da Cunha, Kim N. Green, Andrea J. Tenner, Rahasson R. Ager, Stefania Forner, David Baglietto-Vargas, Dina P. Matheos, Marcelo A. Wood, Carlos J. Rodriguez-Ortiz, Laura Trujillo-Estrada, Frank M. LaFerla, Enikö A. Kramár, Jimmy Phan, Xinyi Ma, Claudio Soto, Ines Moreno-Gonzalez, Grant R. MacGregor, Vivek Swarup, Juan Antonio García-León, Lena Cai, Masashi Kitazawa, Dominic I. Javonillo, Mohammad Shahnawaz, Jessica E. Childs, Antonia Gutierrez, Ali Mortazavi, Shan Jiang, Marie Minh Thu Nguyen, Gabriela Balderrama-Gutierrez, Ken C. Walls
المساهمون: [Baglietto-Vargas,D, Forner,S, Cai,L, Martini,AC, Trujillo-Estrada,L, Swarup,V, Nguyen,MMT, Do Huynh,K, Javonillo,DI, Tran,KM, Phan,J, Kramár,EA, Garcia,F, Childs,J, Rodriguez-Ortiz,CJ, Kitazawa,M, Matheos,DP, Da Cunha,C, Walls,KC, Ager,RR, Tenner,AJ, Wood,M, Green,KM, LaFerla,FM] Institute for Memory Impairments and Neurological Disorders, University of California, Irvine, CA, USA. [Baglietto-Vargas,D, LaFerla,FM] Department of Neurobiology and Behavior, University of California, Irvine, CA, USA. [Baglietto-Vargas,D, Nuñez-Diaz,C, Garcia-Leon,JA, Gutierrez,A, Moreno-Gonzalez,I] Department of Cell Biology, Genetic and Physiology, Faculty of Sciences, Instituto de Investigacion Biomedica de Malaga-IBIMA, Networking Research Center on Neurodegenerative Diseases (CIBERNED), University of Malaga, Malaga, Spain. [Jiang,S, Balderrama-Gutierrez,G, Ma,X, Mortazavi,A, MacGregor,GR] Department of Developmental and Cell Biology, University of California, Irvine, CA, USA. [Rodriguez-Ortiz,CJ, Kitazawa,M] Division of Occupational and Environmental Medicine, Department of Medicine. Center for Occupational and Environmental Health (COEH), University of California, Irvine, CA, USA. [Shahnawaz,M, Soto,C, Moreno-Gonzale,I] The Mitchell Center for Alzheimer’s Disease and Related Brain Disorders, Department of Neurology, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA. [Tenner,AJ] Department of Molecular Biology and Biochemistry, University of California, Irvine, CA, USA., This study was initiated by the generosity of Harry Bubb through Cure Alzheimer’s Fund CAF-50997 (F.M.L.). Additional support was from Alzheimer’s Association NIRG-15-363477 (D.B.V.), AARF-16-440760 (S.F.) and NIRG-394284 (I.M.G.), The Larry Hillblom Foundation 2013-A-016-FEL (D.B.V.) and 2016-A-016-FEL (A.C.M.), the National Institute of Health (NIH) NIH/NIA/NINDS AG027544 (F.M.L.), AG00538 (F.M.L.), AG54884 (F.M.L.), OD010420 (F.M.L.), U54 AG054349 (F.M.L., A.J.T.), AG049562 (C.S.) NS083801 (K.N.G.) and AG056768 (K.N.G.), BrightFocus Foundation grant A2015535S (F.M.L.), by Minister of Science and Innovation grant PID2019-108911RA-100 (D.B.V.), Beatriz Galindo program BAGAL18/00052 (D.B.V.) and Institute of Health Carlos III (ISCiii) grant PI18/01557 (A.G.) co-financed by FEDER funds from European Union, by American federation of aging research-AFAR young investigator award and UC Irvine startup funds (V.S.) and UCI MIND pilot project (D.B.V.). The UCI-ADRC is funded by NIH/NIA Grant P50 AG16573 (F.M.L.). Genetically modified hAβ-KI mice were generated by the UCI Transgenic Mouse Facility, a shared resource funded in part by the Chao Family Comprehensive Cancer Center Support Grant (P30CA062203) from the National Cancer Institute. We thank Drs. Malcolm Leissring and Rodrigo Medeiros for critically reading the manuscript.
المصدر: Nature Communications
Nature communications, vol 12, iss 1
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)مصطلحات موضوعية: 0301 basic medicine, Male, Aging, Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Genetics::Genetic Research::Gene Ontology [Medical Subject Headings], Information Science::Information Science::Computing Methodologies::Software::Mobile Applications [Medical Subject Headings], General Physics and Astronomy, Neurodegenerative, medicine.disease_cause, Inbred C57BL, Alzheimer's Disease, Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Gene Components::Exons [Medical Subject Headings], Phenomena and Processes::Genetic Phenomena::Genetic Processes::Gene Expression [Medical Subject Headings], Transgenic, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Exon, Mice, Amyloid beta-Protein Precursor, Cognition, 0302 clinical medicine, Enfermedad de Alzheimer, Gene expression, Organisms::Eukaryota::Animals [Medical Subject Headings], 2.1 Biological and endogenous factors, Gene Regulatory Networks, Organisms::Eukaryota::Animals::Animal Population Groups::Animals, Genetically Modified::Mice, Transgenic [Medical Subject Headings], Aetiology, Phenomena and Processes::Musculoskeletal and Neural Physiological Phenomena::Nervous System Physiological Phenomena::Nervous System Physiological Processes::Neuronal Plasticity [Medical Subject Headings], Mutation, Multidisciplinary, Neuronal Plasticity, Reacción del ácido peryódico de Schiff, Brain, Alzheimer's disease, Cell biology, Chemicals and Drugs::Inorganic Chemicals::Acids::Acids, Noncarboxylic::Periodic Acid [Medical Subject Headings], Neurological, Female, Diseases::Nervous System Diseases::Neurodegenerative Diseases::Tauopathies::Alzheimer Disease [Medical Subject Headings], Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation [Medical Subject Headings], Periodic acid-schiff, Science, Transgene, Check Tags::Male [Medical Subject Headings], Cre recombinase, Phenomena and Processes::Genetic Phenomena::Genetic Structures::Base Sequence::Regulatory Sequences, Nucleic Acid::Gene Regulatory Networks [Medical Subject Headings], Locus (genetics), Mice, Transgenic, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Gene Expression Profiling [Medical Subject Headings], Biology, Molecular neuroscience, Exones, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, Alzheimer Disease, medicine, Acquired Cognitive Impairment, Genetics, Animals, Humans, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Amino Acids [Medical Subject Headings], Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Rodentia::Muridae::Murinae::Mice [Medical Subject Headings], Cognición, Psychiatry and Psychology::Psychological Phenomena and Processes::Mental Processes::Cognition [Medical Subject Headings], Amyloid beta-Peptides, Mutación, Animal, Gene Expression Profiling, Wild type, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Peptides::Amyloid beta-Peptides [Medical Subject Headings], Anatomy::Nervous System::Central Nervous System::Brain [Medical Subject Headings], General Chemistry, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Amyloid::Amyloidogenic Proteins::Amyloid beta-Protein Precursor [Medical Subject Headings], Diseases::Animal Diseases::Disease Models, Animal [Medical Subject Headings], Brain Disorders, Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, Gene Ontology, Check Tags::Female [Medical Subject Headings], Synaptic plasticity, Disease Models, Dementia, Organisms::Eukaryota::Animals::Animal Population Groups::Animals, Laboratory::Animals, Inbred Strains::Mice, Inbred Strains::Mice, Inbred C57BL [Medical Subject Headings], 030217 neurology & neurosurgery, Expresión génica
وصف الملف: application/pdf
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المؤلفون: Ho Kim, Youn
المساهمون: Vásquez Jiménez, Gezel Raquel
المصدر: Universidad de San Martín de Porres – USMP
REPOSITORIO ACADÉMICO USMP
USMP-Institucional
Universidad de San Martín de Porres
instacron:USMPمصطلحات موضوعية: Mutación, Polimorfismo genético, Variación genética, Exones
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3056::291cf2c6297f5cc6f94b034c9b133b09
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المؤلفون: Ruth Zarate, M. Capelan, Aurora Astudillo, J.P. Berros, Quionia Perez, M. Luque, Emilio Esteban, P. Pardo-Coto, Esther Uriol, Carlos Alvarez-Fernandez, Guillermo Crespo, C. Muriel, P. Jiménez Fonseca, Miguel F. Sanmamed
المساهمون: [Sanmamed,MF] Department of Immunobiology, School of Medicine, Yale University, New Haven, USA. [Sanmamed,MF, Estebam.E: Iropñ.E: Berrps.K^: Perez,Q, Alvarez-Fernández,C, Jiménez Fonseca,P, Luque,M] Department of Medical Oncology, Hospital Universitario Central de Asturias, Oviedo, Spain. [Zarate,R] Clinical Genetics Unit, Clínica Universidad de Navarra, Pamplona, Spain. [Capelan,M] Breast Unit, Royal Marsden NHS Foundation Trust, London, UK. [Muriel,C] Department of Medical Oncology, Hospital Regional Universitario Carlos Haya, Málaga, Spain. [Crespo,G] Department of Medical Oncology, Hospital Universitario de Burgos, Burgos, Spain. [Pardo-Coto,P] Department of Medical Oncology, Centro Médico de Asturias, Oviedo, Spain. [Astudillo,A] Department of Pathology, Hospital Universitario Central de Asturias, Oviedo, Spain.
المصدر: Journal of Translational Medicine
مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Recurrence [Medical Subject Headings], Pathology, Lymphovascular invasion, medicine.medical_treatment, Kaplan-Meier Estimate, Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Gene Components::Exons [Medical Subject Headings], Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Carcinoma embrionario, 0302 clinical medicine, Rete testis, Risk Factors, Recurrence, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Surgical Procedures, Operative::Urogenital Surgical Procedures::Urologic Surgical Procedures::Urologic Surgical Procedures, Male::Orchiectomy [Medical Subject Headings], Epidermal growth factor receptor, hMSH-2, Promoter Regions, Genetic, Masculino, Testicular germ cell tumour, Epididymis invasion, Red Testicular, Medicine(all), Epididymis, Recurrencia local de neoplasia, Epididymis invarsion, Pronóstico, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Histological Techniques::Histocytochemistry::Immunohistochemistry [Medical Subject Headings], General Medicine, Exons, Neoplasms, Germ Cell and Embryonal, Prognosis, Immunohistochemistry, Humanos, ErbB Receptors, medicine.anatomical_structure, MutS Homolog 2 Protein, Epidídimo, 030220 oncology & carcinogenesis, Metilación, Microsatellite Instability, MutL Protein Homolog 1, Adult, medicine.medical_specialty, Anatomy::Urogenital System::Genitalia::Genitalia, Male::Epididymis [Medical Subject Headings], EGFR, Check Tags::Male [Medical Subject Headings], Orquiectomía, Biology, Exones, General Biochemistry, Genetics and Molecular Biology, Disease-Free Survival, Diseases::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Germ Cell and Embryonal::Carcinoma, Embryonal [Medical Subject Headings], Embryonal carcinoma, 03 medical and health sciences, Testicular Neoplasms, Internal medicine, medicine, Biomarkers, Tumor, Humans, Neoplasm Invasiveness, Pathological, MSI, Demography, Neoplasm Staging, Inguinal orchiectomy, hMLH-1, Neoplasias Testiculares, Biochemistry, Genetics and Molecular Biology(all), Genome, Human, Phenomena and Processes::Chemical Phenomena::Chemical Processes::Biochemical Processes::Alkylation::Methylation [Medical Subject Headings], Anatomy::Urogenital System::Genitalia::Genitalia, Male::Testis::Rete Testis [Medical Subject Headings], Research, Diseases::Male Urogenital Diseases::Urogenital Neoplasms::Genital Neoplasms, Male::Testicular Neoplasms [Medical Subject Headings], Microsatellite instability, Diseases::Neoplasms::Neoplastic Processes::Neoplasm Recurrence, Local [Medical Subject Headings], DNA Methylation, medicine.disease, Diseases::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Germ Cell and Embryonal [Medical Subject Headings], digestive system diseases, 030104 developmental biology, biology.protein, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Prognosis [Medical Subject Headings], Neoplasm Recurrence, Local, Inestabilidad de microsatélites, Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Genomic Instability::Microsatellite Instability [Medical Subject Headings], Inmunohistoquímica
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a431e3667f00e1891d9ab5bb81e41d5b
https://hdl.handle.net/10668/2662 -
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