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

المصدر: PLoS ONE, Vol 10, Iss 4, p e0122966 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4390381?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/b7f0fbd4590f4fddb0daa114a52ec76f

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

المصدر: PLoS ONE, Vol 10, Iss 5, p e0128506 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4438054?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/e30d800a2407483eba70f96f9854f359

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

المساهمون: UAM. Departamento de Biología Molecular

المصدر: Biblos-e Archivo. Repositorio Institucional de la UAM
Consejo Superior de Investigaciones Científicas (CSIC)
Biblos-e Archivo: Repositorio Institucional de la UAM
Universidad Autónoma de Madrid

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Propionic Acidemia, Cardiomyopathy, Oxidative phosphorylation, IVRT, GSK3, Cell Line, CardiomiRs, Mice, 03 medical and health sciences, β-MHC, 0302 clinical medicine, Physiology (medical), Internal medicine, medicine, Animals, Humans, Propionic acidemia, PI3K/AKT/mTOR pathway, miRNA, PI3K/AKT, Catabolism, business.industry, Biochemistry (medical), Autophagy, Public Health, Environmental and Occupational Health, Dilated cardiomyopathy, General Medicine, Biología y Biomedicina / Biología, medicine.disease, HCM, MicroRNAs, 030104 developmental biology, Endocrinology, Echocardiography, 030220 oncology & carcinogenesis, mTOR, Signal transduction, Cardiomyopathies, business, ANP, Signal Transduction

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d07e4a7056fd86ec279368315686664
https://doi.org/10.1016/j.trsl.2019.12.004

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

المساهمون: UAM. Departamento de Biología Molecular, UAM. Departamento de Bioquímica, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Ministerio de Economía y Competitividad (España)

المصدر: Biblos-e Archivo. Repositorio Institucional de la UAM
instname
Digital.CSIC. Repositorio Institucional del CSIC
Digital.CSIC: Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Web of Science

مصطلحات موضوعية: business.industry, Phosphotransferases, Human brain, RAF, medicine.disease, Disease gene identification, Bioinformatics, Biología y Biomedicina / Biología, Human MAPK15 Protein, Synpolydactyly, Human genetics, Developmental disorder, medicine.anatomical_structure, medicine, Limb development, SNP, business, Genetics (clinical), Exome sequencing

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca8cddcbef35e8b9e7acb69552f8cb46
http://hdl.handle.net/10486/702149

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

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(4)

مصطلحات موضوعية: Phenotype, Developmental Disabilities, Intracellular Signaling Peptides and Proteins, Humans, Syndactyly, Protein Serine-Threonine Kinases, Child

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e1d63f0070bd8be3bb660f86a864c2c6
https://pubmed.ncbi.nlm.nih.gov/33442026

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

المساهمون: Ministerio de Economía y Competitividad (España), Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), National Institutes of Health (US), University of Antwerp, Research Foundation - Flanders, National Health and Medical Research Council (Australia), University of Oslo

المصدر: The American journal of human genetics
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 S, Issa, M Y, Mehrez, M I, Ismail, S, Tenorio, J, Li, G, Skålhegg, B S, Otaify, G A, Temtamy, S, Aglan, M, Jønch, A E, De Luca, A, Mortier, G, Cormier-Daire, V, Ziegler, A, Wallis, M, Lapunzina, P, Herberg, F W, Taylor, S S & Ruiz-Perez, V L 2020, ' Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome ', American Journal of Human Genetics, vol. 107, no. 5, pp. 977-988 . https://doi.org/10.1016/j.ajhg.2020.09.005
Am J Hum Genet
Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: 0301 basic medicine, Male, Models, Molecular, cAMP signaling, congenital heart defects, Ellis-van Creveld syndrome, GLI transcritpion factors, hedgehog signaling, mosaicism, PKA, postaxial polydactyly, PRKACA, PRKACB, Hedgehog signaling, 030105 genetics & heredity, Germline, Protein Structure, Secondary, Mice, Postaxial polydactyly, Cyclic AMP, Missense mutation, Genetics (clinical), Genetics, Polydactyly, Mosaicism, Gene Expression Regulation, Developmental, Hedgehog signaling pathway, Pedigree, Congenital heart defects, Female, Adult, Adolescent, Biology, Fingers, 03 medical and health sciences, Germline mutation, Report, medicine, Animals, Humans, Abnormalities, Multiple, Cognitive Dysfunction, Hedgehog Proteins, Congenital Malformation Syndrome, Gene, Germ-Line Mutation, Cyclic AMP-Dependent Protein Kinase Catalytic Subunits, Base Sequence, Heart Septal Defects, Infant, Newborn, Toes, medicine.disease, 030104 developmental biology, NIH 3T3 Cells, Human medicine, Holoenzymes

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::398a0e1988d7b4d9bc99c72613d4d248
https://hdl.handle.net/10067/1742760151162165141

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

المساهمون: European Commission, Ministerio de Economía y Competitividad (España), Fundación Isabel Gemio, Fundación Ramón Areces

المصدر: Oxidative Medicine and Cellular Longevity, Vol 2018 (2018)
Digital.CSIC. Repositorio Institucional del CSIC
instname
Oxidative Medicine and Cellular Longevity
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

مصطلحات موضوعية: 0301 basic medicine, Aging, Antioxidant, medicine.medical_treatment, Respiratory chain, Homocystinuria, Review Article, Mitochondrion, medicine.disease_cause, Biochemistry, 03 medical and health sciences, medicine, Animals, Homeostasis, Humans, Molecular Targeted Therapy, lcsh:QH573-671, Beta oxidation, chemistry.chemical_classification, Reactive oxygen species, lcsh:Cytology, Chemistry, Cell Biology, General Medicine, Metabolism, medicine.disease, Mitochondria, Oxidative Stress, 030104 developmental biology, Reactive Oxygen Species, Oxidation-Reduction, Amino Acids, Branched-Chain, Metabolism, Inborn Errors, Oxidative stress, Signal Transduction

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfbba406ea8b2ca2f9f4bcd4a49ff093
https://doi.org/10.1155/2018/1246069