المؤلفون: Rivera Barahona, Ana, Navarrete, Rosa, García-Rodríguez, Raquel, Richard Rodríguez, Eva María, Ugarte, Magdalena, Pérez-Cerda, Celia, Pérez, Belén, Gámez, Alejandra, Ruiz Desviat, Lourdes

المساهمون: UAM. Departamento de Biología Molecular

مصطلحات موضوعية: Folding, PCCA, PCCB, Propionic acidemia, Genotype-Phenotype, Novel Mutations, Structural Analysis, Biología y Biomedicina / Biología

وصف الملف: application/pdf

Relation: Molecular Genetics and Metabolism; https://doi.org/10.1016/j.ymgme.2018.09.008; Molecular Genetics and Metabolism 125.3 (2018): 266-275; http://hdl.handle.net/10486/709429; 266; 275; 125

الاتاحة: http://hdl.handle.net/10486/709429
https://doi.org/10.1016/j.ymgme.2018.09.008

المؤلفون: Richard Rodríguez, Eva María, Gallego Villar, Lorena, Rivera Barahona, Ana, Oyarzabal, Alfonso, Pérez, Belén, Rodríguez Pombo, Pilar, Desviat, Lourdes R.

المساهمون: UAM. Departamento de Biología Molecular

مصطلحات موضوعية: Amino Acids, Branched-Chain, Animals, Homeostasis, Homocystinuria, Humans, Metabolism, Inborn Errors, Mitochondria, Molecular Targeted Therapy, Oxidation-Reduction, Oxidative Stress, Reactive Oxygen Species, Signal Transduction, Biología y Biomedicina / Biología

وصف الملف: application/pdf

Relation: Oxidative Medicine and Cellular Longevity; https://doi.org/10.1155/2018/1246069; Gobierno de España. SAF2016-76004-R; Fondo Investigación Sanitaria, Grant/Award numbers: PI16/00573; http://hdl.handle.net/10486/709184; 2018; 17

الاتاحة: http://hdl.handle.net/10486/709184
https://doi.org/10.1155/2018/1246069

المؤلفون: Cospain, Auriane, Rivera-Barahona, Ana, Dumontet, Erwan, Gener, Blanca, Bailleul-Forestier, Isabelle, Meyts, Isabelle, Jouret, Guillaume, Isidor, Bertrand, Brewer, Carole, Wuyts, Wim, Moens, Leen, Delafontaine, Selket, Keung Lam, Wayne Wing, van den Bogaert, Kris, Boogaerts, Anneleen, Scalais, Emmanuel, Besnard, Thomas, Cogne, Benjamin, Guissard, Christophe, Rollier, Paul, Carre, Wilfrid, Bouvet, Regis, Tarte, Karin, Gómez-Carmona, Ricardo, Lapunzina, Pablo, Odent, Sylvie, Faoucher, Marie, Dubourg, Christele, Ruiz-Pérez, Víctor, Devriendt, Koen, Pasquier, Laurent, Pérez-Jurado, Luis

المساهمون: Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Centre de référence Maladies Rares CLAD-Ouest Rennes, Universidad Autónoma de Madrid (UAM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Department of Microbiology, Immunology and Transplantation Leuven, Catholic University of Leuven = Katholieke Universiteit Leuven (KU Leuven), University Hospitals Leuven Leuven, Laboratoire National de Santé Luxembourg (LNS), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Institut du Thorax Nantes, Antwerp University Hospital Edegem (UZA), Centre Hospitalier de Luxembourg Luxembourg (CHL), Geroscience and rejuvenation research center (RESTORE), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Microenvironment and B-cells: Immunopathology,Cell Differentiation, and Cancer (MOBIDIC), Université de Rennes (UR)-Etablissement français du sang Rennes (EFS Bretagne)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Universitat Pompeu Fabra Barcelona (UPF), Research reported in this publication was supported by the CatalonianDepartment of Health (URDCAT: Grant SLT002/16/00174) and the ENoD Programme of CIBERER(ER16P08), Instituto de Salud Carlos III. Selket Delafontaine is supported by the personal FWO Grant11F4421N. Isabelle Meyts is a Senior Clinical Investigator at the Research Foundation – Flanders, andis supported by the CSL Behring Chair of Primary Immunodeficiencies, by the KU Leuven C1 GrantC16/18/007, by a VIB GC PID Grant, by the FWO Grants G0C8517N, G0B5120N and G0E8420N and bythe Jeffrey Modell Foundation. Part of this work was supported by a grant from the Spanish Ministryof Science and Innovation (PID2019-105620RB-I00/AEI/10.13039/501100011033). The project hasalso received funding from the European Research Council (ERC) under the European Union’s Horizon2020 research and innovation programme (grant agreement No. 948959). This work is supported byERN-RITA.LAPJ is founding partner and scientific advisor of qGenomics Laboratories. The remaining authorsdeclare no potential conflict of interest.

المصدر: ISSN: 1098-3600.

مصطلحات موضوعية: AP-1 complex, Adams-Oliver syndrome, Aplasia cutis congenita of scalp, Enamel hypoplasia, FOSL2, FOSL2 FRA-2 aplasia cutis congenita of scalp enamel hypoplasia AP-1 complex Adams-Oliver syndrome, FRA-2, MESH: Humans, MESH: Scalp, MESH: Autism Spectrum Disorder, MESH: HEK293 Cells, MESH: Transcription Factor AP-1, MESH: Exons, MESH: Ectodermal Dysplasia, MESH: Neurodevelopmental Disorders, MESH: RNA, Messenger, MESH: Fos-Related Antigen-2, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/36197437; hal-03954791; https://univ-rennes.hal.science/hal-03954791; https://univ-rennes.hal.science/hal-03954791/document; https://univ-rennes.hal.science/hal-03954791/file/Cospain%20et%20al%20-%202022%20-%20FOSL2%20truncating%20variants%20in%20the%20last%20exon.pdf; PUBMED: 36197437

الاتاحة: https://univ-rennes.hal.science/hal-03954791
https://univ-rennes.hal.science/hal-03954791/document
https://univ-rennes.hal.science/hal-03954791/file/Cospain%20et%20al%20-%202022%20-%20FOSL2%20truncating%20variants%20in%20the%20last%20exon.pdf
https://doi.org/10.1016/j.gim.2022.09.002

المؤلفون: Luque, Juan M., Mendes, Ingrid, Gómez, Beatriz, Morte, Beatriz, Heredia, Miguel, Lopez Herreras, Enrique, Corrochano, Virginia, Bueren, Juan, Gallano, Pia, Artuch, Rafael, Fillat, Cristina, Pérez-Jurado, Luis A., Montoliu, Lluís, Carracedo, Angel, Millán, José M., Webb, Susan M., Palau, Francesc, CIBERER Network, Lapunzina, Pablo, Albiñana, Virginia, Arjona, Emilia, Bernabéu, Carmelo, Botella, Luisa María, Pinto, Sheila, Rodríguez de Córdoba, Santiago, Ruiz, Ángela, Antiñolo, Guillermo, Borrego, Salud, Bravo-Gil, Nereida, González-del Pozo, María, Méndez-Vidal, Cristina, Arbones, Maria L., Caparrós-Martín, José Antonio, Cediel, Rafael, Contreras, Julio, Estañ, María Cristina, Guerrero-López, Rosa, Jiménez-Estrada, Juan Andrés, Manguan-García, Cristina, Murillo-Cuesta, Silvia, Palencia-Campos, Adrián, Perona Abellón, Rosario, Rivera-Barahona, Ana, Rodríguez de la Rosa, Lourdes, Ruiz-Pérez, Victor L., Sastre, Leandro, Valencia, María, Varela-Nieto, Isabel, Cervera, Javier, Cima, Sergio de, Gougeard, Nadine, Llácer, José Luis, Marco-Marín, Clara, Marina, Alberto, Mollá, Belén, Moreno-Estellés, Mireia, Pérez-Jiménez, Eva, Rubio, Vicente, Sanz, Pascual, Cortés-Rodríguez, Ana, Navas, Plácido, Sánchez Cuesta, Ana María, Santos-Ocaña, Carlos, Fraga, Mario F., Nieto, M. Ángela

المساهمون: Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Marina, Alberto, Sanz, Pascual, Rubio, Vicente, Llácer, José L.

مصطلحات موضوعية: Genetics, New therapeutic approaches, Novel genes, Rare diseases, Research network

Relation: Publisher's version; https://dx.doi.org/10.1111/cge.14113; Sí; Clinical Genetics 101(5-6):481-493 (2022); http://hdl.handle.net/10261/270407; http://dx.doi.org/10.13039/501100004837; http://dx.doi.org/10.13039/501100004587

الاتاحة: http://hdl.handle.net/10261/270407
https://doi.org/10.1111/cge.14113
https://doi.org/10.13039/501100004837
https://doi.org/10.13039/501100004587

المؤلفون: Iturrate, Asier, Rivera-Barahona, Ana, Flores, Carmen-Lisset, Otaify, Ghada A., Elhossini, Rasha, Perez-Sanz, Marina L., Nevado, Julián, Tenorio-Castano, Jair, Triviño, Juan Carlos, Garcia-Gonzalo, Francesc R., Piceci-Sparascio, Francesca, De Luca, Alessandro, Martínez, Leopoldo, Kalaycı, Tugba, Lapunzina, Pablo, Altunoglu, Umut, Aglan, Mona, Abdalla, Ebtesam, Ruiz-Perez, Victor L.

المساهمون: National Human Genome Research Institute, National Institute of Mental Health, National Cancer Institute, National Institute on Drug Abuse, National Institute of Neurological Disorders and Stroke, Gobierno de España Ministerio de Ciencia e Innovación, National Institutes of Health, Ministerio de Ciencia e Innovación, National Heart, Lung, and Blood Institute

المصدر: The American Journal of Human Genetics ; volume 109, issue 10, page 1828-1849 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2022.08.009
https://api.elsevier.com/content/article/PII:S0002929722003615?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929722003615?httpAccept=text/plain

المؤلفون: Fulgencio-Covián, Alejandro, Alonso-Barroso, Esmeralda, Guenzel, Adam J., Rivera-Barahona, Ana, Ugarte, Magdalena, Pérez, Belén, Barry, Michael A., Pérez-Cerdá, Celia, Richard, Eva, Desviat, Lourdes R.

المساهمون: UAM. Departamento de Biología Molecular

مصطلحات موضوعية: CardiomiRs, GSK3, HCM, mTOR, IVRT, miRNA, PI3K/AKT, ANP, β-MHC, Biología y Biomedicina / Biología

وصف الملف: application/pdf

Relation: Translational Research; https://doi.org/10.1016/j.trsl.2019.12.004; Gobierno de España. SAF2016-76004-R; Translational Research 218 (2020): 43-56; 1931-5244 (print); http://hdl.handle.net/10486/696368; 43; 56; 218

الاتاحة: http://hdl.handle.net/10486/696368
https://doi.org/10.1016/j.trsl.2019.12.004

المؤلفون: Horn, Denise, Fernández-Núñez, Elisa, Gomez-Carmona, Ricardo, Rivera-Barahona, Ana, Nevado, Julian, Schwartzmann, Sarina, Ehmke, Nadja, Lapunzina, Pablo, Otaify, Ghada A., Temtamy, Samia, Aglan, Mona, Boschann, Felix, Ruiz-Perez, Victor L.

المصدر: Genetics in Medicine ; volume 23, issue 4, page 679-688 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-020-01052-2
http://www.nature.com/articles/s41436-020-01052-2.pdf
http://www.nature.com/articles/s41436-020-01052-2
https://api.elsevier.com/content/article/PII:S1098360021024631?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021024631?httpAccept=text/plain

المؤلفون: Ana Rivera-Barahona, Alejandro Fulgencio-Covián, Celia Pérez-Cerdá, Ricardo Ramos, Michael A. Barry, Magdalena Ugarte, Belén Pérez, Eva Richard, Lourdes R Desviat

المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/81f02db56c494ec3a74cb8d4bc20b7c9

المؤلفون: Palencia-Campos, Adrian, Aoto, Phillip C., Machal, Erik M.F., Rivera-Barahona, Ana, Soto-Bielicka, Patricia, Bertinetti, Daniela, Baker, Blaine, Vu, Lily, Piceci-Sparascio, Francesca, Torrente, Isabella, Boudin, Eveline, Peeters, Silke, Van Hul, Wim, Huber, Celine, Bonneau, Dominique, Hildebrand, Michael S., Coleman, Matthew, Bahlo, Melanie, Bennett, Mark F., Schneider, Amy L., Scheffer, Ingrid E., Kibæk, Maria, Kristiansen, Britta S., Issa, Mahmoud Y., Mehrez, Mennat I., Ismail, Samira, Tenorio, Jair, Li, Gaoyang, Skålhegg, Bjørn Steen, Otaify, Ghada A., Temtamy, Samia, Aglan, Mona, Jønch, Aia E., De Luca, Alessandro, Mortier, Geert, Cormier-Daire, Valérie, Ziegler, Alban, Wallis, Mathew, Lapunzina, Pablo, Herberg, Friedrich W., Taylor, Susan S., Ruiz-Perez, Victor L.

المصدر: Palencia-Campos , A , Aoto , P C , Machal , E M F , Rivera-Barahona , A , Soto-Bielicka , P , Bertinetti , D , Baker , B , Vu , L , Piceci-Sparascio , F , Torrente , I , Boudin , E , Peeters , S , Van Hul , W , Huber , C , Bonneau , D , Hildebrand , M S , Coleman , M , Bahlo , M , Bennett , M F , Schneider , A L , Scheffer , I E , Kibæk , M , Kristiansen , B ....

مصطلحات موضوعية: cAMP signaling, congenital heart defects, Ellis-van Creveld syndrome, GLI transcritpion factors, hedgehog signaling, mosaicism, PKA, postaxial polydactyly, PRKACA, PRKACB

Relation: https://portal.findresearcher.sdu.dk/da/publications/7636c748-a80a-4af6-9ec7-5927f4766962

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/7636c748-a80a-4af6-9ec7-5927f4766962
https://doi.org/10.1016/j.ajhg.2020.09.005
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7675002/pdf/main.pdf

المؤلفون: Asier Iturrate, Ana Rivera-Barahona, Carmen-Lisset Flores, Ghada A. Otaify, Rasha Elhossini, Marina L. Perez-Sanz, Julián Nevado, Jair Tenorio-Castano, Juan Carlos Triviño, Francesc R. Garcia-Gonzalo, Francesca Piceci-Sparascio, Alessandro De Luca, Leopoldo Martínez, Tugba Kalaycı, Pablo Lapunzina, Umut Altunoglu, Mona Aglan, Ebtesam Abdalla, Victor L. Ruiz-Perez

المساهمون: Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), National Institutes of Health (US)

المصدر: Am J Hum Genet

مصطلحات موضوعية: Ciliopathy, RNA Splicing, SCNM1, Hedgehog signaling, Orofaciodigital Syndromes, U12 introns, Article, Ciliopathies, Introns, Primary cilia, Minor spliceosome, Mutation, Genetics, Spliceosomes, Humans, Hedgehog Proteins, Orofaciodigital syndrome, Cilia, RNA Splicing Factors, RNA, Small Interfering, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ac2eebb2fb424ec12f5591bd111872b
https://europepmc.org/articles/PMC9606384/

المؤلفون: Auriane Cospain, Ana Rivera-Barahona, Erwan Dumontet, Blanca Gener, Isabelle Bailleul-Forestier, Isabelle Meyts, Guillaume Jouret, Bertrand Isidor, Carole Brewer, Wim Wuyts, Leen Moens, Selket Delafontaine, Wayne Wing Keung Lam, Kris Van Den Bogaert, Anneleen Boogaerts, Emmanuel Scalais, Thomas Besnard, Benjamin Cogne, Christophe Guissard, Paul Rollier, Wilfrid Carre, Regis Bouvet, Karin Tarte, Ricardo Gómez-Carmona, Pablo Lapunzina, Sylvie Odent, Marie Faoucher, Christele Dubourg, Víctor L. Ruiz-Pérez, Koen Devriendt, Laurent Pasquier, Luis A. Pérez-Jurado

المساهمون: Generalitat de Catalunya, CHU Pontchaillou [Rennes], Centre de référence Maladies Rares CLAD-Ouest [Rennes], Universidad Autónoma de Madrid (UAM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Department of Microbiology, Immunology and Transplantation [Leuven], Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), University Hospitals Leuven [Leuven], Laboratoire National de Santé [Luxembourg] (LNS), Centre hospitalier universitaire de Nantes (CHU Nantes), Institut du Thorax [Nantes], Antwerp University Hospital [Edegem] (UZA), Centre Hospitalier de Luxembourg [Luxembourg] (CHL), Geroscience and rejuvenation research center (RESTORE), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Microenvironment and B-cells: Immunopathology,Cell Differentiation, and Cancer (MOBIDIC), Université de Rennes (UR)-Etablissement français du sang [Rennes] (EFS Bretagne)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Universitat Pompeu Fabra [Barcelona] (UPF), Research reported in this publication was supported by the CatalonianDepartment of Health (URDCAT: Grant SLT002/16/00174) and the ENoD Programme of CIBERER(ER16P08), Instituto de Salud Carlos III. Selket Delafontaine is supported by the personal FWO Grant11F4421N. Isabelle Meyts is a Senior Clinical Investigator at the Research Foundation – Flanders, andis supported by the CSL Behring Chair of Primary Immunodeficiencies, by the KU Leuven C1 GrantC16/18/007, by a VIB GC PID Grant, by the FWO Grants G0C8517N, G0B5120N and G0E8420N and bythe Jeffrey Modell Foundation. Part of this work was supported by a grant from the Spanish Ministryof Science and Innovation (PID2019-105620RB-I00/AEI/10.13039/501100011033). The project hasalso received funding from the European Research Council (ERC) under the European Union’s Horizon2020 research and innovation programme (grant agreement No. 948959). This work is supported byERN-RITA.LAPJ is founding partner and scientific advisor of qGenomics Laboratories. The remaining authorsdeclare no potential conflict of interest.

المصدر: Genetics in Medicine
Genetics in Medicine, 2022, 24 (12), pp.2475-2486. ⟨10.1016/j.gim.2022.09.002⟩
Genetics in medicine

مصطلحات موضوعية: FOSL2 FRA-2 aplasia cutis congenita of scalp enamel hypoplasia AP-1 complex Adams-Oliver syndrome, Autism Spectrum Disorder, MESH: Fos-Related Antigen-2, FOSL2, Fos-Related Antigen-2, MESH: Scalp, Adams-Oliver syndrome, Ectodermal Dysplasia, AP-1 complex, Humans, RNA, Messenger, Genetics (clinical), FRA-2, MESH: Neurodevelopmental Disorders, MESH: RNA, Messenger, enamel hypoplasia, MESH: Autism Spectrum Disorder, MESH: Humans, MESH: Ectodermal Dysplasia, Scalp, Exons, MESH: Transcription Factor AP-1, Transcription Factor AP-1, aplasia cutis congenita of scalp, HEK293 Cells, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Neurodevelopmental Disorders, MESH: HEK293 Cells, Human medicine, MESH: Exons

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a9c2cb95f13c2d762c5435721f9e969
https://pubmed.ncbi.nlm.nih.gov/36197437

المؤلفون: Rivera-Barahona, Ana, Alonso-Barroso, Esmeralda, Pérez, Belén, Murphy, Michael P, Richard, Eva, Desviat, Lourdes R

مصطلحات موضوعية: Antioxidants, MitoQ, Propionic acidemia, Resveratrol, Administration, Oral, Amino Acids, Branched-Chain, Animals, Disease Models, Animal, Heart, Humans, Lipid Peroxidation, Mice, Organophosphorus Compounds, Oxidative Stress, Stilbenes, Ubiquinone

وصف الملف: Print-Electronic; application/vnd.openxmlformats-officedocument.wordprocessingml.document

Relation: https://www.repository.cam.ac.uk/handle/1810/277187

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/277187
https://doi.org/10.17863/CAM.24480

المؤلفون: Generalitat de Catalunya, Cospain, Auriane, Rivera-Barahona, Ana, Dumontet, Erwan, Gener, Blanca, Bailleul-Forestier, Isabelle, Meyts, Isabelle, Jouret, Guillaume, Isidor, Bertrand, Brewer, Carole, Wuyts, Wim, Moens, Leen, Delafontaine, Selket, Wing Keung Lam, Wayne, Van Den Bogaert, Kris, Boogaerts, Anneleen, Scalais, Emmanuel, Besnard, Thomas, Cogne, Benjamin, Guissard, Christophe, Rollier, Paul, Carre, Wilfrid, Bouvet, Regis, Tarte, Karin, Gómez Carmona, Ricardo, Lapunzina, Pablo, Odent, Sylvie, Faoucher, Marie, Dubourg, Christele, Ruiz-Pérez, Victor L., Devriendt, Koen, Pasquier, Laurent, Pérez-Jurado, Luis Alberto

مصطلحات الفهرس: artículo

URL: http://hdl.handle.net/10261/295379
http://dx.doi.org/10.1016/j.gim.2022.09.002
Sí

المؤلفون: Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), National Institutes of Health (US), Iturrate, Asier, Rivera-Barahona, Ana, Flores, Carmen-Lisset, Otaify, Ghada A., Elhossini, Rasha, Perez-Sanz, Marina L., Nevado, Julian, Tenorio, Jair, Triviño, Juan Carlos, Garcia-Gonzalo, Francesc R., Piceci-Sparascio, Francesca, Luca, Alessandro De, Martínez, Leopoldo, Kalaycı, Tugba, Lapunzina, Pablo, Altunoglu, Umut, Aglan, Mona, Abdalla, Ebtesam, Ruiz-Pérez, Victor L.

مصطلحات الفهرس: Orofaciodigital syndrome, SCNM1, Minor spliceosome, U12 introns, Primary cilia, Ciliopathy, Hedgehog signaling, artículo

URL: http://hdl.handle.net/10261/289519
http://dx.doi.org/10.1016/j.ajhg.2022.08.009
Sí
info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/PID2019-105620RB-I00/ES/AVANCES EN EL CONOCIMIENTO DE LAS BASES GENETICAS Y MOLECULARES DE ENFERMEDADES RARAS ASOCIADAS A DEFECTOS CONGENITOS

المؤلفون: Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Marina, Alberto [0000-0002-1334-5273], Sanz, Pascual [0000-0002-2399-4103], Rubio, Vicente [0000-0001-8124-1196], Llácer, José L. [0000-0001-5304-1795], Luque, Juan M., Mendes, Ingrid, Gómez, Beatriz, Morte, Beatriz, Heredia, Miguel, Lopez Herreras, Enrique, Corrochano, Virginia, Bueren, Juan, Gallano, Pia, Artuch, Rafael, Fillat, Cristina, Pérez-Jurado, Luis Alberto, Montoliu, Lluís, Carracedo, Ángel, Millán, José María, Webb, Susan M., Palau, Francesc, CIBERER Network, Lapunzina, Pablo, Albiñana, Virginia, Arjona, Emilia, Bernabéu, Carmelo, Botella, Luisa María, Pinto, Sheila, Rodríguez de Córdoba, Santiago, Ruiz, Ángela, Antiñolo, Guillermo, Borrego, Salud, Bravo-Gil, Nereida, González-del Pozo, María, Méndez-Vidal, Cristina, Arbones, Maria L., Caparrós-Martín, José A., Cediel, Rafael, Contreras, Julio, Estañ, María Cristina, Guerrero-López, Rosa, Jiménez-Estrada, Juan Andrés, Manguan-García, Cristina, Murillo-Cuesta, Silvia, Palencia-Campos, Adrián, Perona Abellón, Rosario, Rivera-Barahona, Ana, Rodriguez-de la Rosa, Lourdes, Ruiz-Pérez, Victor L., Sastre, Leandro, Valencia, María, Varela-Nieto, Isabel, Cervera, Javier, Cima, Sergio de, Gougeard, Nadine, Llácer, José Luis, Marco-Marín, Clara, Marina, Alberto, Mollá, Belén, Moreno-Estellés, Mireia, Pérez-Jiménez, Eva, Rubio, Vicente, Sanz, Pascual, Cortés-Rodríguez, Ana Belén, Navas, Plácido, Sánchez Cuesta, Ana María, Santos-Ocaña, Carlos, Fraga, Mario F., Nieto, M. Ángela

مصطلحات الفهرس: Genetics, New therapeutic approaches, Novel genes, Rare diseases, Research network, artículo de revisión

URL: http://hdl.handle.net/10261/270407
Publisher's version
https://dx.doi.org/10.1111/cge.14113
Sí

المؤلفون: Luque, Juan, Mendes, Ingrid, Gómez, Beatriz, Morte, Beatriz, de Heredia, Miguel, Lopez Herreras, Enrique, Corrochano, Virginia, Bueren, Juan, Gallano, Pia, Artuch, Rafael, Fillat, Cristina, Pérez-Jurado, Luis A., Montoliu, Lluís, Carracedo, Angel, Millan, Jose M., Webb, Susan M., Palau, Francesc, CIBERER Network, Lapunzina, Pablo, Albiñana, Virginia, Arjona, Emilia, Bernabéu, Carmelo, Botella, Luisa M., Pinto, Sheila, Rodríguez de Córdoba, Santiago, Ruiz, Ángela, Antiñolo, Guillermo, Borrego, Salud, Bravo-Gil, Nereida, González-del Pozo, María, Méndez-Vidal, Cristina, Arbones, Maria L., Caparrós-Martín, José Antonio, Cediel, Rafael, Contreras, Julio, Estañ, María Cristina, Guerrero, Rosa, Jiménez-Estrada, Juan Andrés, Manguán García, Cristina, Murillo-Cuesta, Silvia, Palencia-Campos, Adrián, Perona, Rosario, Rivera-Barahona, Ana, Rodríguez de la Rosa, Lourdes, Ruiz-Pérez, Victor L., Sastre, Leandro, Valencia, María, Varela-Nieto, Isabel, Cervera, Javier, Cima, Sergio de, Gougeard, Nadine, Heredia, Miguel, Llácer, José Luis, Marco-Marín, Clara, Marina, Alberto, Mollá, Belén, Moreno, Mireia, Pérez-Jiménez, Eva, Rubio, Vicente, Sanz, Pascual, Cortés-Rodríguez, Ana, Navas, Plácido, Sánchez Cuesta, Ana María, Santos-Ocaña, Carlos, Fraga, Mario F., Nieto, M. Ángela

المساهمون: Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Marina, Alberto [0000-0002-1334-5273], Sanz, Pascual [0000-0002-2399-4103], Rubio, Vicente [0000-0001-8124-1196], Llácer, José L. [0000-0001-5304-1795]

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: Novel genes, Genetics, Research network, New therapeutic approaches, Rare diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::56378410f9d57cdfcd1c700d6521c17c
http://hdl.handle.net/10261/270407

المؤلفون: Gallego-Villar, L, Rivera-Barahona, A, Cuevas-Martín, C, Guenzel, A, Pérez, B, Barry, MA, Murphy, MP, Logan, A, Gonzalez-Quintana, A, Martín, MA, Medina, S, Gil-Izquierdo, A, Cuezva, JM, Richard, E, Desviat, LR

مصطلحات موضوعية: Antioxidant, Inherited metabolic diseases, Lipid peroxidation, MitoB, Mitochondria, Mouse models, OXPHOS, Oxidative damage, Propionic acidemia, ROS, Reverse phase protein microarrays, oxidative stress, Animals, Antioxidants, DNA, Mitochondrial, Disease Models, Animal, Homeostasis, Humans, Hydrogen Peroxide, Methylmalonyl-CoA Decarboxylase, Mice, Oxidation-Reduction, Protein Array Analysis, Reactive Oxygen Species, Superoxides

وصف الملف: application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/364718; https://doi.org/10.17863/CAM.106269

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/364718
https://doi.org/10.17863/CAM.106269

المؤلفون: Rivera-Barahona, Ana, Sánchez-Alcudia, Rocío, Viecelli, Hiu Man, Rüfenacht, Veronique, Pérez, Belén, Ugarte, Magdalena, Häberle, Johannes, Thöny, Beat, Desviat, Lourdes Ruiz

المساهمون: UAM. Departamento de Biología Molecular

مصطلحات موضوعية: Animal model, Enzyme activity, Exon, Missense mutation, Ornithine transcarbamylase deficiency, Biología y Biomedicina / Biología

وصف الملف: application/pdf

Relation: PLoS ONE; http://dx.doi.org/10.1371/journal.pone.0122966; PLoS ONE 10.4 (2015): e122966; 1932-6203 (print); http://hdl.handle.net/10486/673377; 13; 10

الاتاحة: http://hdl.handle.net/10486/673377
https://doi.org/10.1371/journal.pone.0122966

المؤلفون: Rivera-Barahona, Ana, Sánchez-Alcudia, Rocío, Viecelli, Hiu Man, Rüfenacht, Veronique, Pérez, Belén, Ugarte, Magdalena, Häberle, Johannes, Thöny, Beat, Ruiz Desviat, Lourdes

المساهمون: UAM. Departamento de Biología Molecular

مصطلحات موضوعية: Biología y Biomedicina / Biología

وصف الملف: application/pdf

Relation: PLoS ONE; http://dx.doi.org/10.1371/ journal.pone.0128506; Gobierno de España. SAF2013-43005-R; PLoS ONE 10.5 (2015): e0128506; 1932-6203 (print); http://hdl.handle.net/10486/673374; 10

الاتاحة: http://hdl.handle.net/10486/673374
https://doi.org/10.1371/journal.pone.0128506

المؤلفون: Luque, Juan A., Mendes, Ingrid, Gómez, Beatriz, Morte, Beatriz, López de Heredia, Miguel, Herreras, Enrique, Corrochano, Virginia, Bueren, Juan, Gallano, Pia, Artuch, R, Fillat, Cristina, Pérez-Jurado, Luis A., Montoliu, Lluis, Carracedo, Ãngel, Millán, José, Webb, S. M, Palau, Francesc, Aguado, Carmen, Aguado, Cristina, Aguilera, Paula, Albiñana, Virginia, Alías, Laura, Almoguera, Berta, Alonso, Javier, Alonso-Ferreira, Verónica, Ãlvarez-Mora, María Isabel, Antiñolo Gil, Guillermo, Arbonés, M. L, Arenas, Joaquín, Arjona, Emilia, Armangue, Thais, Armstrong, Judith, Arnedo, María, Aulinas-Masó, Anna, Avila-Fernandez, Almudena, Ayuso, Carmen, Badell Serra, Isabel, Badenas, Celia, Baeza, Maria Luisa, Baiget, Montserrat, Balcells, Susana, Ballesta Martínez, María Juliana, Barahona, María-José, Barros, Francisco, Bartoccioni, Paola Chiara, Bayona-Bafaluy, María Pilar, Benito Sanz, Sara, Bernabéu, Carmelo, Bernal, Sara, Blanco-Kelly, Fiona, Blázquez, Alberto, Bodoy, Susanna, Bogliolo, Massimo, Borralleras, Cristina, Borrego, Salud, Botella, Luisa-Maria, Bou de Pieri, Francesc, Bovolenta, Paola, Bravo Gil, Nereida, Brea-Fernández, Alejandro, Bueno-Lozano, Gloria, Bustamante, Ana, Caballero, Teresa, Camacho-Macorra, Carlos, Cámara, Yolanda, Camats Tarruella, Núria, Campos-Barros, Ãngel, Campuzano, Victoria, Cantarero Abad, Lara, Cantó, Judith, Caparros-Martin, Jose A., Cardellach, Francesc, Carmona, Rosario, Carrera, Cristina, Carretero, Marta, Casado, Mercedes, Casado, José A, Casasnovas, Carlos, Cascón, Alberto, Casino, Patricia, Castaño, Luís Antonio, Castilla-Vallmanya, Laura, Català , Albert, Cayuela, Maria Luisa, Cediel, Rafael, Cervera, Javier, Codina Solà , Marta, Contreras, Julio, Cormand, Bru, Corominas, Roser, Corral, Javier, Cortés-Rodríguez, Ana, Corton, Marta, Costa-Roger, Mar, Cozar, Mónica, Crespo, Iris, Crispi, Fátima, Cruz, Raquel, Cuezva, José M. Centro de Biologia Molecular Severo Ochoa, Cusco, Ivon, Dalmau, Josep, de Cima, Sergio, de la Luna, Susana, De Luna, Noemí, de Oyarzabal Sanz, Alfonso, del Campo, Miguel, Del Castillo, Ignacio, Del Pino Molina, Lucía, Del Pozo, Ãngela, del Río, Marcela, Delmiro, Aitor, Desviat, Lourdes R, Dierssen, Mara, Domínguez-González, C, Domínguez Ruíz, María, Dopazo, Joaquín, Errasti, Ekaitz, Escámez, M.J., Estañ, María Cristina, Esteban, Jesús, Estévez, Raúl, Ezquieta, Begoña, Fernández, Luís, Fernández, Almudena, Fernández Cancio, Mónica, Fernà ndez-Castillo, Noèlia, Fernández-San Jose, Patricia, Fons, Carmen, Fort, Joana, Fourcade, Stéphane, Fraga, Mario, Gallardo, Eduard, García, Marta, Garcia-Arumi, Elena, García-Bravo, María, García-Cazorla, Angels, García-Consuegra, Inés, Garcia-Garcia, Francesc Josep, García-García, Gema, García-Giménez, José Luís, Garcia-Gimeno, María Adelaida, García-Miñaur, Sixto, García-Redondo, Alberto, García-Silva, M. Teresa, García-Villoria, Judit, García Santiago, Fe, Garrabou, Gloria, Garrido, Gema, Garrido-Pérez, Núria, Gaztambide, Sonia, Gil-Campos, Mercedes, Giroud-Gerbetant, Judith, Glover, Guillermo Hospital, Gómez-Puertas, Paulino, Gonzalez-Cabo, Pilar, González-Casacuberta, Ingrid, González-del Pozo, María, Gonzalez-Quereda, L., González-Quintana, Adrián, Gort, Laura, Gougeard, Nadine, Gratacos, Eduard, Grau, Josep María, Grinberg, Daniel, Güenechea, Guillermo, Guerrero, Rosa, Guillén-Navarro, E., Guitart-Mampel, Mariona, Gutiérrez-Arumí, Armand, Heath, Karen, Heredia, Miguel, Hernández-Chico, Concepción, Hoenicka, Janet, Homs, Aïda, Jimenez-Estrada, Juan Andrés, Jimenez-Mallebrera, Cecilia, Jou, Cristina, Juarez-Flores, Diana Luz, Lapunzina, Pablo, Larcher, Fernando, Lasa, Adriana, Lassaletta, Luis, Latorre Pellicer, Ana, Linares, Daniel, Llacer, José Luis, Llames, Sara, Lopez-Gallardo, Ester, López Laso, Eduardo, López-Lera, Alberto, López López, Daniel, López-Sánchez, M., López Granados, Eduardo, Lorda-Sánchez, Isabel, Lozano, María Luisa, Madrigal, Irene, Malvehy, Josep, Manguán García, Cristina, Mansilla, Elena, Marco-Marín, Clara, Marfany, Gemma, Marina, Alberto, Martí, Ramon A, Martí, Salvador, Martin, Yolanda, Martín, Miguel A. Hospital Universitario 12 de Octubre, Martín-Hernandez, Elena, Martin-Merida, Inmaculada, Martínez, Rosa, Martínez-Azorín, Francisco, Martinez-Delgado, Beatriz, Martínez-Gil, Núria, Martinez-Glez, Víctor, Martínez-Momblán, María Antonia, Martínez-Romero, María Carmen, Martínez Fernández, Pilar, Martínez Santamaría, Lucía, Martorell, Loreto, Meade, Patricia, Meana, Ãlvaro, Medina, Miguel Ãngel, Medrano, Andrés, Méndez-Vidal, Cristina, Minguez, Pablo, Minguillón Pedreño, Jordi, Mirra, Serena, Mollá Moliner, Belén, Moltó, Eduardo, Montero, Raquel, Montoya, Julio, Morán, María, Moren, Constanza, Moreno Estelles, Mireia, Moreno, José Carlos, Moreno Galdó, Antonio, Moreno-Pelayo, Miguel Ãngel, Mori, María A., Morin, Matías, Mulero, Victoriano, Muñoz-Pujol, Gerard, Murillas, Rodolfo, Murillo-Cuesta, Silvia, Nascimento, Andrés, Navarro, Susana, Navas, Plácido, Nevado, Julián, Nicolas, AdriÃ, Nieto, M. Ãngela, O'Callaghan, Maria del Mar, Olavarrieta, Leticia, Ormazabal, Aida, Ortiz-Romero, Paula, Osorio, Ana, Páez, David, Palacín, Manuel, Palacios-Verdú, M. Gabriela, Palencia-Campos, Adrián, Pallardó, Federico V., Palomares, María, Peña-Chilet, María, Pérez, Belén, Pérez-Florido, Javier, Pérez-García, Débora, Pérez-Jiménez, Eva, Perkins, James Richard, Perona, Rosario, Pie, Juan, Pinós Figueras, Tomà s, Pinto, Sheila Centro de Investigaciones Biologicas-Margarita Salas (Espanya, Madrid), Potrony, Miriam, Puig, Susana, Puig-Butille, Joan Antón, Puisac, Beatriz, Pujol, Roser, Pujol, Aurora, Quintana, Óscar, Rabionet, Raquel, Ramírez de Haro, Ma. José, Ramos, Feliciano J., Ranea, Juan A.G., Reina-Castillón, Judith, Resmini, Eugenia, Ribes, Antonia, Rica, Itxaso, Richard, Eva, Riera, Pau, Río, Paula, Riveiro-Alvarez, Rosa, Rivera, José, Rivera-Barahona, Ana, Robledo, Mercedes, Rodríguez-Aguilera, Juan Carlos, Rodríguez-de la Rosa, Lourdes, Rodríguez-Palmero, Agustí, Rodríguez-Pombo, Pilar, Rodríguez-Revenga, Laia, Rodríguez-Santiago, Benjamín, Rodríguez Sureda, Víctor, Rodríguez de Alba, Marta, Rodríguez de Cordoba, Santiago, Romá-Mateo, Carlos, Rubio, Vicente, Ruíz, Ãngela, Ruíz, Montserrat, Ruiz-Arenas, Carlos, Luis Ruíz-Perez, Víctor Luís, Ruíz-Pesini, Eduardo, Ruiz-Ponte, Clara, Rullo, Josep, Sabater, Lidia, Salazar, Juliana, Salido, Eduardo, Sanchez-Jimeno, Carolina, Sánchez Cuesta, Ana María, Sánchez Soler, María José, Santacatterina, Fulvio, Santamarina, Marta, Santos, Alicia, Santos-Ocaña, C., Santos Simarro, Fernando, Sanz, Pascual, Sastre, Leandro, Schlüter, Agatha, Segovia, Jose C, Segura-Puimedon, María, Seoane, Pedro, Serra-Juhe, Clara, Serrano, Mercedes, Serratosa, Jose María, Sevilla, Teresa, Surrallés i Calonge, Jordi, Tahsin-Swafiri, Saoud, Tell-Martí, Gemma, Tenorio-Castaño, Jair Antonio, Tizzano, Eduardo F, Tobias, Ester, Tort, Frederic, Trujillano, Laura, Trujillo-Tiebas, María José, Ugalde, Cristina, Ugarteburu, Olatz, Urreizti, Roser, Urrutia, Inés, Valencia, María, Vallcorba, Patricia, Vallespín, Elena, Varela-Nieto, Isabel, Vega, Ana, Vélez-Santamaria, Valentina, Vílchez, Juan J., Villa, Olaya, Villamar, Manuela, Zubeldia, José Manuel, Zurita, Olga, Universitat Autònoma de Barcelona

مصطلحات موضوعية: Genetics, New therapeutic approaches, Novel genes, Rare diseases, Research network

وصف الملف: application/pdf

Relation: Clinical genetics; Vol. 101 Núm. 5-6 (May-June 2022), p. 481-493; https://ddd.uab.cat/record/283198; urn:10.1111/cge.14113; urn:oai:ddd.uab.cat:283198; urn:scopus_id:85129996841; urn:pmid:35060122; urn:pmcid:PMC9305285; urn:oai:pubmedcentral.nih.gov:9305285

الاتاحة: https://ddd.uab.cat/record/283198