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1.
16 p, 1.8 MB Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information / Guelfi, Sebastian (University College London (UCL) Institute of Neurology) ; D'Sa, Karishma (Guy's and St Thomas' NHS Foundation Trust (Regne Unit)) ; Botía, Juan A. (Universidad de Murcia) ; Vandrovcova, Jana (University College London (UCL) Institute of Neurology) ; Reynolds, Regina H. (University College London (UCL) Institute of Neurology) ; Zhang, David (University College London (UCL) Institute of Neurology) ; Trabzuni, Daniah (King Faisal Specialist Hospital and Research Centre) ; Collado-Torres, Leonardo (Lieber Institute for Brain Development) ; Thomason, Andrew (University of London) ; Quijada Leyton, Pedro (University of London) ; Gagliano Taliun, Sarah A. (University of Michigan) ; Nalls, Mike A. (Data Tecnica International) ; Noyce, Alastair J. (Wolfson Institute of Preventive Medicine) ; Nicolas, Aaude (National Institute on Aging (Estats Units d'Amèrica)) ; Cookson, Mark R. (National Institute on Aging (Estats Units d'Amèrica)) ; Bandres-Ciga, Sara (National Institute on Aging (Estats Units d'Amèrica)) ; Gibbs, J. Raphael (National Institute on Aging (Estats Units d'Amèrica)) ; Hernandez, Dena G. (National Institute on Aging (Estats Units d'Amèrica)) ; Singleton, Andrew B. (National Institute on Aging (Estats Units d'Amèrica)) ; Reed, Xylena (National Institute on Aging (Estats Units d'Amèrica)) ; Leonard, Hampton L (National Institute on Aging (Estats Units d'Amèrica)) ; Blauwendraat, Cornelis (Wolfson Institute of Preventive Medicine) ; Faghri, Faraz (University of Illinois at Urbana-Champaign) ; Bras, Jose (King's College London) ; Guerreiro, Rita (University College London) ; Tucci, Arianna (University College London) ; Kia, Demis A. (University College London) ; Houlden, Henry (University College London) ; Plun-Favreau, Helene (University College London) ; Mok, Kin Ying (University College London) ; Wood, Nicholas W. (University College London) ; Lovering, Ruth Caroline (University College London) ; R'Bibo, Lea (University College London) ; Rizig, Mie (University College London) ; Chelban, Viorica (UCL Institute of Neurology (Regne Unit)) ; Tan, Manuela (Singapore Institute for Clinical Sciences) ; Morris, Huw (University College London) ; Middlehurst, Ben (Institute of Translational Medicine) ; Quinn, John (Institute of Translational Medicine) ; Billingsley, Kimberley (Institute of Translational Medicine) ; Holmans, Peter (MRC Centre for Neuropsychiatric Genetics & Genomics) ; Kinghorn, Kerri J. (University College London) ; Lewis, Patrick (University of Reading) ; Escott-Price, Valentina (Cardiff University School of Medicine) ; Williams, Nigel (MRC Cardiff University School of Medicine) ; Foltynie, Thomas (UCL Institute of Neurology (Regne Unit)) ; Brice, Alexis (Pitié-Salpêtrière Hospital6. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital) ; Danjou, Fabrice (Pitié-Salpêtrière Hospital6. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital) ; Lesage, Suzanne (Pitié-Salpêtrière Hospital6. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital) ; Corvol, Jean-Christophe (Pitié-Salpêtrière Hospital6. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital) ; Martinez, Maria M. (Paul Sabatier University) ; Giri, Anamika (DZNE. German Center for Neurodegenerative Diseases) ; Schulte, Claudia (DZNE. German Center for Neurodegenerative Diseases) ; Brockmann, Kathrin (DZNE. German Center for Neurodegenerative Diseases) ; Simón-Sánchez, Javier (DZNE. German Center for Neurodegenerative Diseases) ; Heutink, Peter (DZNE. German Center for Neurodegenerative Diseases) ; Gasser, Thomas (DZNE. German Center for Neurodegenerative Diseases) ; Rizzu, Patrizia (DZNE. German Center for Neurodegenerative Diseases) ; Sharma, Manu (University of Tubingen) ; Shulman, Joshua M. (Texas Children's Hospital) ; Robak, Laurie (Baylor College of Medicine) ; Lubbe, Steven (Northwestern University Feinberg School of Medicine) ; Mencacci, Niccolò Emanuele (Northwestern University Feinberg School of Medicine) ; Finkbeiner, Steven (Taube/Koret Center for Neurodegenerative Disease Research) ; Lungu, Codrin (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Scholz, Sonja (National Institute of Neurological Disorders and Stroke) ; Gan-Or, Ziv (McGill University) ; Rouleau, Guy A. (McGill University) ; Krohan, Lynne (Leiden University Medical Center) ; van Hilten, Jacobus J. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Marinus, Johan (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Adarmes-Gómez, A.D (Hospital Universitari MútuaTerrassa) ; Bernal-Bernal, Inmaculada (Hospital Universitari MútuaTerrassa) ; Bonilla-Toribio, Marta (Hospital Universitari MútuaTerrassa) ; Buiza-Rueda, Dolores (Hospital Universitari MútuaTerrassa) ; Carrillo, Fátima (Hospital Universitari MútuaTerrassa) ; Carrión-Claro, M (Hospital Universitari MútuaTerrassa) ; Mir, Pablo (Hospital Universitari MútuaTerrassa) ; Gómez-Garre, Pilar (Hospital Universitari MútuaTerrassa) ; Jesús, Silvia (Hospital Universitari MútuaTerrassa) ; Labrador-Espinosa, Miguel A. (Hospital Universitari MútuaTerrassa) ; Macias, Daniel (Hospital Universitari MútuaTerrassa) ; Vargas-González, Laura (Hospital Universitari MútuaTerrassa) ; Méndez-del-Barrio, Carlota (Hospital Universitari MútuaTerrassa) ; Periñán, Teresa (Hospital Universitari MútuaTerrassa) ; Tejera-Parrado, Cristina (Hospital Universitari MútuaTerrassa) ; Diez-Fairen, Monica (Hospital Universitario Central de Asturias) ; Aguilar, Miquel (Hospital Universitario Central de Asturias) ; Alvarez, Ignacio (Hospital Universitario Central de Asturias) ; Boungiorno, María Teresa (Hospital Universitario Central de Asturias) ; Carcel, Maria (Hospital Universitario Central de Asturias) ; Pastor, Pau (Hospital Universitario Central de Asturias) ; Tartari, Juan Pablo (Hospital Universitario Central de Asturias) ; Alvarez, Victoria (Hospital Universitario Parque Tecnologico de la Salud) ; Mendez-Gonzalez, Manuel (Hospital Universitario Parque Tecnologico de la Salud) ; Blazquez, Marta (Hospital Universitario Parque Tecnologico de la Salud) ; Garcia, Ciara (Hospital Universitario Parque Tecnologico de la Salud) ; Suarez-Sanmartin, Esther (Hospital Universitario Parque Tecnologico de la Salud) ; Barrero, Francisco Javier (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Mondragon Rezola, Elisabet (Hospital General de Segovia) ; Bergareche Yarza, Jesús Alberto (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Pagola, Ana Gorostidi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; de Munain Arregui, Adolfo Lopez (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Ruiz-Martínez, Javier (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Cerdan, Debora (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Duarte, Jacinto (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ; Infante, Jon (Instituto de Investigación Sanitaria de Granada) ; Marín, Juan (Hospital Clínic i Provincial de Barcelona) ; Kulisevsky, Jaime (Hospital Clínic i Provincial de Barcelona) ; Pagonabarraga Mora, Javier (Hospital Clínic i Provincial de Barcelona) ; Gonzalez-Aramburu, Isabel (Universidad de Granada) ; Sanchez Rodriguez, Antonio (Universidad de Granada) ; Sierra, Maria (Universidad de Granada) ; Duran, Raquel (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Ruz, Clara (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Vives, Francisco (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Escamilla Sevilla, Francisco (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Mínguez-Castellanos, Adolfo (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Cámara, Ana (Institut de Recerca Sant Joan de Déu) ; Compta, Yaroslau (Institut de Recerca Sant Joan de Déu) ; Ezquerra, Mario (Institut de Recerca Sant Joan de Déu) ; Marti, Maria Jose (Institut de Recerca Sant Joan de Déu) ; Fernández, Manel (Institut de Recerca Sant Joan de Déu) ; Muñoz, Esteban (Institut de Recerca Sant Joan de Déu) ; Fernández-Santiago, Rubén (Institut de Recerca Sant Joan de Déu) ; Tolosa, Eduard (Institut de Recerca Sant Joan de Déu) ; Valldeoriola, Francesc (Institut de Recerca Sant Joan de Déu) ; García-Ruiz, Pedro (Hospital Universitario Ramón y Cajal (Madrid)) ; Gómez-Heredia, Maria José (Hospital Universitari i Politècnic La Fe de Valencia) ; Perez Errazquin, Francisco (Hospital Universitari i Politècnic La Fe de Valencia) ; Hoenicka, Janet (Hospital General de Segovia) ; Jiménez-Escrig, Adriano (Hospital General de Segovia) ; Martínez-Castrillo, Juan Carlos (Hospital General de Segovia) ; Lopez-Sendon, Jose Luis (Hospital General de Segovia) ; Martinez Torres, Irene (Hospital Universitario Fundación Alcorcón) ; Tabernero, Cesar (Hospital Universitario Fundación Alcorcón) ; Vela, Lydia (Hospital Universitario Fundación Alcorcón) ; Zimprich, Alexander (Medical University of Vienna) ; Pihlstrom, Lasse (Oslo University Hospital (Oslo, Noruega)) ; Koks, Sulev (Perron Institute for Neurological and Translational Science) ; Taba, Pille (University of Tartu) ; Majamaa, Kari (Oulu University Hospital (Finlàndia)) ; Siitonen, Ari (Oulu University Hospital (Finlàndia)) ; Okubadejo, Njideka (University of Lago) ; Ojo, Oluwadamilola (University of Lago) ; Forabosco, Paola (Cittadella Universitaria di Cagliari) ; Walker, Robert (University of Edinburgh) ; Small, Kerrin (King's College London) ; Smith, Colin (University of Edinburgh) ; Ramasamy, Adaikalavan (Brenner Centre for Molecular Medicine) ; Hardy, John (University College London (UCL) Institute of Neurology) ; Weale, Michael (Genomics plc) ; Ryten, Mina (University College London (UCL) Institute of Neurology) ; Universitat Autònoma de Barcelona
Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric disease risk. An improved understanding of the genetic control of gene expression in human brain is vital considering this is the likely modus operandum for many causal variants. [...]
2020 - 10.1038/s41467-020-14483-x
Nature communications, Vol. 11 Núm. 1 (january 2020) , p. 1041  
2.
12 p, 761.8 KB Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility / Cerván-Martín, Miriam (Instituto de Investigación Sanitaria de Granada) ; Bossini-Castillo, Lara (Instituto de Investigación Sanitaria de Granada) ; Guzmán-Jiménez, Andrea (Instituto de Investigación Sanitaria de Granada) ; Rivera-Egea, Rocío (IIS La Fe) ; Garrido, Nicolás (IIS La Fe) ; Lujan, Saturnino (IIS La Fe) ; Romeu, Gema (IIS La Fe) ; Santos-Ribeiro, Samuel (Department of Obstetrics and Gynecology. Faculty of Medicine. University of Lisbon) ; Castilla, José Antonio (CEIFER-GAMETIA Biobank) ; Gonzálvo, María Carmen (Unidad de Reproducción. UGC Obstetricia y Ginecología. HU Virgen de las Nieves) ; Clavero, Ana (Unidad de Reproducción. UGC Obstetricia y Ginecología. HU Virgen de las Nieves) ; Maldonado, Vicente (UGC de Obstetricia y Ginecología. Complejo Hospitalario de Jaén) ; Vicente, Francisco Javier (UGC de Urología. HU Virgen de las Nieves) ; Burgos, Miguel (Departamento de Genética e Instituto de Biotecnología. Centro de Investigación Biomédica. Universidad de Granada) ; Jiménez, Rafael (Departamento de Genética e Instituto de Biotecnología. Centro de Investigación Biomédica. Universidad de Granada) ; González-Muñoz, Sara (Instituto de Investigación Sanitaria de Granada) ; Sánchez-Curbelo, Josvany (Institut d'Investigació Biomèdica Sant Pau) ; López-Rodrigo, Olga (Fundació Puigvert) ; Pereira-Caetano, Iris (Departamento de Genética Humana. Instituto Nacional de Saúde Dr. Ricardo Jorge) ; Marques, Patricia Isabel (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)) ; Carvalho, Filipa (Serviço de Genética. Departamento de Patologia. Faculdade de Medicina da Universidade do Porto) ; Barros, Alberto (Serviço de Genética. Departamento de Patologia. Faculdade de Medicina da Universidade do Porto) ; Bassas, Lluís (Institut d'Investigació Biomèdica Sant Pau) ; Seixas, Susana (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)) ; Gonçalves, João (Departamento de Genética Humana. Instituto Nacional de Saúde Dr. Ricardo Jorge) ; Larriba, Sara (Institut d'Investigació Biomèdica de Bellvitge) ; Lopes, Alexandra M. (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)) ; Palomino-Morales, Rogelio Jesús (Universidad de Granada. Departamento de Bioquímica y Biología Molecular) ; Carmona, F. David (Instituto de Investigación Sanitaria de Granada)
Background: Previous studies in animal models evidenced that genetic mutations of KATNAL1, resulting in dysfunction of its encoded protein, lead to male infertility through disruption of microtubule remodelling and premature germ cell exfoliation. [...]
2022 - 10.1111/andr.13221
Andrology, 2022  
3.
13 p, 3.2 MB Analysis of Alternative Splicing During the Combinatorial Response to Simultaneous Copper and Iron Deficiency in Arabidopsis Reveals Differential Events in Genes Involved in Amino Acid Metabolism / Mancini, Estefania (Centre de Regulació Genòmica) ; Garcia-Molina, Antoni (Centre de Recerca en Agrigenòmica)
Copper (Cu) and iron (Fe) constitute fundamental nutrients for plant biology but are often limited due to low bioavailability. Unlike responses to single Cu or Fe deprivation, the consequences of simultaneous Cu and Fe deficiency have not yet been fully deciphered. [...]
2022 - 10.3389/fpls.2022.827828
Frontiers in plant science, Vol. 13 (January 2022) , art. 827828  
4.
12 p, 2.9 MB Cryo-EM structure of hnRNPDL-2 fibrils, a functional amyloid associated with limb-girdle muscular dystrophy D3 / Garcia-Pardo, Javier (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Bartolomé-Nafría, Andrea (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Chaves-Sanjuan, Antonio (Università degli Studi di Milano. Dipartimento di Bioscienze) ; Gil Garcia, Marcos (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Visentin, Cristina (Università degli Studi di Milano. Dipartimento di Bioscienze) ; Bolognesi, Martino (Università degli Studi di Milano. CRC Fondazione Romeo e Enrica Invernizzi and NOLIMITS) ; Ricagno, Stefano (Policlinico San Donato. Institute of Molecular and Translational Cardiology, I.R.C.C.S.) ; Ventura, Salvador (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí")
hnRNPDL is a ribonucleoprotein (RNP) involved in transcription and RNA-processing that hosts missense mutations causing limb-girdle muscular dystrophy D3 (LGMD D3). Mammalian-specific alternative splicing (AS) renders three natural isoforms, hnRNPDL-2 being predominant in humans. [...]
2023 - 10.1038/s41467-023-35854-0
Nature communications, Vol. 14 (January 2023) , art. 239  
5.
12 p, 2.0 MB Genome-wide detection of human variants that disrupt intronic branchpoints / Zhang, Peng (The Rockefeller University) ; Philippot, Quentin (Paris Cité University) ; Ren, Weicheng (Karolinska Institutet (Estocolm, Suècia)) ; Lei, Wei-Te (The Rockefeller University) ; Li, Juan (The Rockefeller University) ; Stenson, Peter D. (Cardiff University) ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ; Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ; Boisson, Bertrand (Paris Cité University) ; Zhang, Shen-Ying (Paris Cité University) ; Puel, Anne (Paris Cité University) ; Pan-Hammarström, Qiang (Karolinska Institutet (Estocolm, Suècia)) ; Zhang, Qian (Paris Cité University) ; Cooper, David N. (Cardiff University) ; Abel, Laurent (Paris Cité University, Imagine Institute) ; Casanova, Jean-Laurent (HHMI) ; Universitat Autònoma de Barcelona
The search for candidate variants underlying human disease in massive parallel sequencing data typically focuses on coding regions and essential splice sites, mostly ignoring noncoding variants. The RNA spliceosome recognizes intronic branchpoint (BP) motifs at the beginning of splicing and operates mostly within introns to define the exon-intron boundaries; however, BP variants have been paid little attention. [...]
2022 - 10.1073/pnas.2211194119
Proceedings of the National Academy of Sciences of the United States of America, Vol. 119 (october 2022)  
6.
14 p, 1.7 MB When pitch adds to volume : coregulation of transcript diversity predicts gene function / Cáceres, Alejandro (Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública) ; González, Juan Ramón (Universitat Autònoma de Barcelona. Departament de Matemàtiques)
Background: Genes corregulate their overall transcript volumes to perform their physiological functions. However, it is unknown if they additionally coregulate their transcript diversities. We studied the reliability, consistency and functional associations of co-splicing correlations of genes of interest, across two independent studies, multiple tissues and two statistical methods. [...]
2018 - 10.1186/s12864-018-5263-z
BMC genomics, Vol. 19 (December 2018) , art. 926  
7.
13 p, 2.4 MB Histone variant MacroH2A1 is downregulated in prostate cancer and influences malignant cell phenotype / Vieira-Silva, T. S. (Portuguese Oncology Institute of Porto (IPO Porto)) ; Monteiro-Reis, S. (Portuguese Oncology Institute of Porto (IPO Porto)) ; Barros-Silva, D. (Portuguese Oncology Institute of Porto (IPO Porto)) ; Ramalho-Carvalho, J. (Portuguese Oncology Institute of Porto (IPO Porto)) ; Graça, I. (Portuguese Oncology Institute of Porto (IPO Porto)) ; Carneiro, I. (Department of Pathology. Portuguese Oncology Institute of Porto (IPO Porto)) ; Martins, A. T. (Department of Pathology. Portuguese Oncology Institute of Porto (IPO Porto)) ; Oliveira, Jorge (IPO-Porto. Department of Urology) ; Antunes, L. (Portuguese Oncology Institute of Porto (IPO Porto). Department of Epidemiology) ; Hurtado-Bagès, Sarah (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Buschbeck, Marcus (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Henrique, Rui (University of Porto. Department of Pathology and Molecular Immunology) ; Jerónimo, C. (University of Porto. Department of Pathology and Molecular Immunology) ; Universitat Autònoma de Barcelona
Background: Prostate cancer (PCa), a major cause of cancer-related morbidity and mortality worldwide and mostly asymptomatic at earliest stages, is characterized by disruption of genetic and epigenetic balance. [...]
2019 - 10.1186/s12935-019-0835-9
Cancer Cell International, Vol. 19 Núm. 1 (29 2019) , p. 112  
8.
7 p, 979.5 KB Epigenetic inactivation of the splicing RNA-binding protein CELF2 in human breast cancer / Piqué, L. (Institut d'Investigació Biomèdica de Bellvitge) ; Martinez de Paz, A. (Institut d'Investigació Biomèdica de Bellvitge) ; Piñeyro, David (Institut d'Investigació Biomèdica de Bellvitge) ; Martínez Cardús, Anna (Institut d'Investigació Biomèdica de Bellvitge) ; Castro de Moura, Manuel (Institut d'Investigació Biomèdica de Bellvitge) ; Llinàs-Arias, Pere (Institut d'Investigació Biomèdica de Bellvitge) ; Setien, F. (Institut d'Investigació Biomèdica de Bellvitge) ; Gómez-Miragaya, Jorge (Institut d'Investigació Biomèdica de Bellvitge) ; Gonzalez-Suarez, Eva (Institut d'Investigació Biomèdica de Bellvitge) ; Sigurdsson, S. (Department of Biochemistry and Molecular Biology. Biomedical Center) ; Jonasson, J. G. (Landspitali University Hospital (Reykjavík, Islàndia)) ; Villanueva, Alberto (Institut Català d'Oncologia) ; Vidal, A. (Hospital Universitari de Bellvitge) ; Davalos, Veronica (Institut d'Investigació Biomèdica de Bellvitge) ; Esteller, M. (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Universitat Autònoma de Barcelona
Human tumors show altered patterns of protein isoforms that can be related to the dysregulation of messenger RNA alternative splicing also observed in transformed cells. Although somatic mutations in core spliceosome components and their associated factors have been described in some cases, almost nothing is known about the contribution of distorted epigenetic patterns to aberrant splicing. [...]
2019 - 10.1038/s41388-019-0936-x
Oncogene, Vol. 38 Núm. 45 (july 2019) , p. 7106-7112  
9.
17 p, 5.7 MB An integrated multi-omics approach identifies the landscape of interferon-α-mediated responses of human pancreatic beta cells / Colli, M. L. (ULB Center for Diabetes Research. Medical Faculty. Université Libre de Bruxelles) ; Ramos-Rodríguez, M. (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Nakayasu, E. S. (Biological Sciences Division. Pacific Northwest National Laboratory) ; Alvelos, M. I. (ULB Center for Diabetes Research. Medical Faculty. Université Libre de Bruxelles) ; Lopes, M. (ULB Center for Diabetes Research. Medical Faculty. Université Libre de Bruxelles) ; Hill, J. L. E. (Institute of Biomedical & Clinical Science. University of Exeter Medical School) ; Turatsinze, J. V. (ULB Center for Diabetes Research. Medical Faculty. Université Libre de Bruxelles) ; Coomans de Brachène, A. (ULB Center for Diabetes Research. Medical Faculty. Université Libre de Bruxelles) ; Russell, M. A. (Institute of Biomedical & Clinical Science. University of Exeter Medical School) ; Raurell Vila, Helena (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Castela, A. (ULB Center for Diabetes Research. Medical Faculty. Université Libre de Bruxelles) ; Juan-Mateu, J. (ULB Center for Diabetes Research. Medical Faculty. Université Libre de Bruxelles) ; Webb-Robertson, B. J. M. (Biological Sciences Division. Pacific Northwest National Laboratory) ; Krogvold, L. (Oslo University Hospital (Oslo, Noruega)) ; Dahl-Jorgensen, K. (Oslo University Hospital (Oslo, Noruega)) ; Marselli, L. (Department of Clinical and Experimental Medicine. Islet Cell Laboratory. University of Pisa) ; Marchetti, P. (Department of Clinical and Experimental Medicine. Islet Cell Laboratory. University of Pisa) ; Richardson, S. J. (Institute of Biomedical & Clinical Science. University of Exeter Medical School) ; Morgan, N. G. (Institute of Biomedical & Clinical Science. University of Exeter Medical School) ; Metz, T. O. (Biological Sciences Division. Pacific Northwest National Laboratory) ; Pasquali, Lorenzo (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Eizirik, D. L. (Indiana Biosciences Research Institute) ; Universitat Autònoma de Barcelona
Interferon-α (IFNα), a type I interferon, is expressed in the islets of type 1 diabetic individuals, and its expression and signaling are regulated by T1D genetic risk variants and viral infections associated with T1D. [...]
2020 - 10.1038/s41467-020-16327-0
Nature communications, Vol. 11 Núm. 1 (january 2020) , p. 2584  
10.
10 p, 3.6 MB Plant buffering against the high-light stress-induced accumulation of CsGA2ox8 transcripts via alternative splicing to finely tune gibberellin levels and maintain hypocotyl elongation / Liu, Bin (Centre de Recerca en Agrigenòmica) ; Zhao, Shuo (Shanghai Jiao Tong University. School of Agriculture and Biology) ; Li, Pengli (Shanghai Jiao Tong University. School of Agriculture and Biology) ; Yin, Yilu (Shanghai Jiao Tong University. School of Agriculture and Biology) ; Niu, Qingliang (Shanghai Jiao Tong University. School of Agriculture and Biology) ; Yan, Jinqiang (Guangdong Academy of Agricultural Sciences) ; Huang, Danfeng (Shanghai Jiao Tong University. School of Agriculture and Biology)
In plants, alternative splicing (AS) is markedly induced in response to environmental stresses, but it is unclear why plants generate multiple transcripts under stress conditions. In this study, RNA-seq was performed to identify AS events in cucumber seedlings grown under different light intensities. [...]
2021 - 10.1038/s41438-020-00430-w
Horticulture research, Vol. 8, art. 2 (Jan. 2021)  

Articles : 23 registres trobats   1 - 10següentfinal  anar al registre:
Documents de recerca 3 registres trobats  
1.
1 p, 15.7 MB The cryo-EM revolution : structural perspective of plicing / Rodà Llordés, Sergi ; Universitat Autònoma de Barcelona. Facultat de Biociències
2018
Grau en Bioquímica [814]  
2.
182 p, 2.4 MB Estudi dels mecanismes moleculars subjacents en mutacions CFTR que afecten l'eficiència de l'splicing. Desenvolupament de tècniques complementàries per a la caracterització a nivell de DNA, RNA i proteïna en cèl·lules epitelials / Masvidal Sanz, Laia ; Casals Senent, Teresa, dir. ; Velázquez Henar, Antonia ; Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia
La Fibrosis quística (FQ) és la malaltia genètica recessiva letal més freqüent a la població caucàsica. Més de 1600 mutacions al gen CFTR han estat descrites com a responsables de FQ i/o han estat associades a altres malalties com l¿absència bilateral de conductes deferents, la pancreatitis crònica i les bronquiectàsies. [...]
Cystic fibrosis (CF) is the most common recessive genetic disease in Caucasian population. Over 1,600 cystic fibrosis transmembrane conductance regulator (CFTR) gene sequence variations have been identified in patients with cystic fibrosis (CF) and/or related disorders such as congenital bilateral absence of the vas deferens, chronic pancreatitis and bronchiectasis. [...]

[Barcelona] : Universitat Autònoma de Barcelona, 2012  
3.
54 p, 490.4 KB Bayesian network studies for splicing regulatory elements / Kedzierska, Anna Magdalena ; Centre de Recerca Matemàtica
Centre de Recerca Matemàtica 2008 (Master Research Projects ;)  

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