المؤلفون: Rita Serra, Vincenzo Rallo, Maristella Steri, Stefania Olla, Maria Grazia Piras, Michele Marongiu, Myriam Gorospe, David Schlessinger, Antonio Pinna, Edoardo Fiorillo, Francesco Cucca, Andrea Angius

المصدر: BMC Ophthalmology, Vol 24, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Usher syndrome, USH2A gene, Pathogenic variant, Sardinia Founder effect, Molecular screening, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2415

URL الوصول: https://doaj.org/article/4b4dde0c7d4e4c11911ccdfe6bc78aa8

المؤلفون: Sonia Floris, Francesca Pintus, Antonella Fais, Benedetta Era, Nicola Raho, Chiara Siguri, Germano Orrù, Sara Fais, Carlo Ignazio Giovanni Tuberoso, Stefania Olla, Amalia Di Petrillo

المصدر: Molecules, Vol 29, Iss 21, p 5063 (2024)

مصطلحات موضوعية: Asphodelus microcarpus, α-glucosidase, α-amylase, molecular docking, Organic chemistry, QD241-441

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1420-3049/29/21/5063; https://doaj.org/toc/1420-3049

URL الوصول: https://doaj.org/article/ac0d477241d64312bddf40ce30e71360

المؤلفون: Caterina Veroni, Stefania Olla, Maria Stefania Brignone, Chiara Siguri, Alessia Formato, Manuela Marra, Rosa Manzoli, Maria Carla Macario, Elena Ambrosini, Enrico Moro, Cristina Agresti

المصدر: Biomolecules, Vol 14, Iss 4, p 443 (2024)

مصطلحات موضوعية: edaravone, aryl hydrocarbon receptor, oligodendrocyte progenitors, zebrafish, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2218-273X/14/4/443; https://doaj.org/toc/2218-273X

URL الوصول: https://doaj.org/article/be47b9891dfd476689ff304711d8e573

المؤلفون: Eleonora Colombo, Stefania Olla, Cristina Minnelli, Alessia Formato, Caterina Veroni, Silvia Corbisiero, Mattia Pericolo, Chiara Siguri, Giovanna Mobbili, Cristina Agresti, Pierfausto Seneci

المصدر: Molecules, Vol 28, Iss 19, p 6928 (2023)

مصطلحات موضوعية: edaravone, amyotrophic lateral sclerosis, prodrugs, mechanism of action, chemical probes, antioxidant activity, Organic chemistry, QD241-441

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1420-3049/28/19/6928; https://doaj.org/toc/1420-3049

URL الوصول: https://doaj.org/article/36e8ab7190cd4688b7643ce4f6e5c262

المؤلفون: Stefania Olla, Maristella Steri, Alessia Formato, Michael B. Whalen, Silvia Corbisiero, Cristina Agresti

المصدر: Pharmaceutics, Vol 13, Iss 12, p 2064 (2021)

مصطلحات موضوعية: GWAS, multiple sclerosis, oxidative stress, repurposing, ADME-Tox, Pharmacy and materia medica, RS1-441

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1999-4923/13/12/2064; https://doaj.org/toc/1999-4923

URL الوصول: https://doaj.org/article/cf806ccbfcb0476b9bdccde63e9795d6

المؤلفون: Amalia Di Petrillo, Chiara Siguri, Giovanna L. Delogu, Antonella Fais, Benedetta Era, Sonia Floris, Francesca Pintus, Amit Kumar, Massimo Claudio Fantini, Stefania Olla

المساهمون: DI PETRILLO, Amalia, Siguri, Chiara, Delogu, Giovanna L., Fais, Antonella, Era, Benedetta, Floris, Sonia, Pintus, Francesca, Kumar, Amit, Fantini, MASSIMO CLAUDIO, Olla, Stefania

مصطلحات موضوعية: Xanthine oxidase, Molecular docking, Luteolin derivate, Molecular dynamics

Relation: info:eu-repo/semantics/altIdentifier/pmid/38823536; info:eu-repo/semantics/altIdentifier/wos/WOS:001255388000001; volume:397; journal:CHEMICO-BIOLOGICAL INTERACTIONS; https://hdl.handle.net/11584/400703; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85194960410

الاتاحة: https://hdl.handle.net/11584/400703
https://doi.org/10.1016/j.cbi.2024.111087

المؤلفون: Stefania Olla, Chiara Siguri, Antonella Fais, Benedetta Era, Massimo Claudio Fantini, Amalia Di Petrillo

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 15391, p 15391 (2023)

مصطلحات موضوعية: quercetin, xanthine oxidase, myeloperoxidase, nicotinamide adenine dinucleotide phosphate oxidase, lipoxygenase, monoamine oxidase, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/24/20/15391; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/59142fe85353414cb6df8c6922c97ceb

الاتاحة: https://doi.org/10.3390/ijms242015391
https://doaj.org/article/59142fe85353414cb6df8c6922c97ceb

المؤلفون: Fabio Busonero, Marco Masala, Gabriella Sole, Serena Sanna, Valeria Orrù, Cristian Antonio Caria, Michele Marongiu, Magdalena Zoledziewska, Isadora Asunis, Carlo Sidore, Paola Forabosco, Mauro Pala, Gonçalo R. Abecasis, Edoardo Fiorillo, Maristella Pitzalis, Sandra Lai, Francesca Deidda, Antonella Mulas, Matteo Floris, Maristella Steri, Andrea Maschio, Susanna Barella, David Schlessinger, Stefania Olla, Francesco Cucca

المساهمون: Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)

المصدر: British Journal of Haematology, e124-e128. Wiley
ISSUE=5;STARTPAGE=e124;ENDPAGE=e128;ISSN=0007-1048;TITLE=British Journal of Haematology
Br J Haematol

مصطلحات موضوعية: Male, Protein subunit, Hematology, Biology, medicine.disease, Genetic analysis, Molecular biology, Thrombocytopenia, Bernard–Soulier syndrome, Founder Effect, Article, Glycoprotein Ib, Italy, Platelet Glycoprotein GPIb-IX Complex, Mutation, medicine, biology.protein, Humans, Platelet, Female, Functional studies, Beta (finance), Founder mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df0dd166dd9b501b6edd7d1dcbb8eb18
https://doi.org/10.1111/bjh.17090

المؤلفون: Cristina Agresti, Cecilia Eleuteri, Rosella Mechelli, Caterina Veroni, Marco Salvetti, Stefania Olla, Giovanni Ristori

المصدر: Current Medicinal Chemistry. 27:2095-2105

مصطلحات موضوعية: Multiple Sclerosis, Context (language use), Disease, medicine.disease_cause, Bioinformatics, Biochemistry, Antioxidants, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Edaravone, Drug Discovery, Animals, Humans, Medicine, Remyelination, 030304 developmental biology, Pharmacology, 0303 health sciences, Clinically isolated syndrome, business.industry, Multiple sclerosis, Organic Chemistry, Neurodegeneration, medicine.disease, Oxidative Stress, medicine.anatomical_structure, chemistry, Molecular Medicine, business, Oxidation-Reduction, 030217 neurology & neurosurgery, Oxidative stress

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3d5eb675ca5d31e031cfc029bd43078
https://doi.org/10.2174/0929867326666190124122752

المؤلفون: Silvia Corbisiero, Maristella Steri, Michael B. Whalen, Stefania Olla, Alessia Formato, Cristina Agresti

المصدر: Pharmaceutics, Vol 13, Iss 2064, p 2064 (2021)
Pharmaceutics
Pharmaceutics; Volume 13; Issue 12; Pages: 2064

مصطلحات موضوعية: Drug, CARM1, media_common.quotation_subject, In silico, Pharmaceutical Science, Genome-wide association study, Biology, Bioinformatics, medicine.disease_cause, Article, Multiple sclerosis, Pharmacy and materia medica, medicine, GWAS, media_common, medicine.disease, Human genetics, ADME-Tox, Oxidative stress, Repurposing, RS1-441, Drug repositioning, multiple sclerosis, oxidative stress, repurposing

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fad2d9db1e11ba445aa44fd6b8a2795
http://hdl.handle.net/11573/1607431

المؤلفون: Gabriella Sole, Marco Masala, Sandra Lai, Valeria Orrù, Francesca Deidda, Mauro Pala, Magdalena Zoledziewska, Antonella Mulas, Matteo Floris, Andrea Maschio, Edoardo Fiorillo, Serena Sanna, Gonçalo R. Abecasis, Michele Marongiu, Isadora Asunis, Carlo Sidore, Maristella Steri, Cristian Antonio Caria, Francesco Cucca, Paola Forabosco, Fabio Busonero, Susanna Barella, Maristella Pitzalis, David Schlessinger, Stefania Olla

مصطلحات موضوعية: Genetics, education.field_of_study, Population, Mutation (genetic algorithm), Missense mutation, Platelet, Biology, Compound heterozygosity, education, Founder mutation, Genetic association, Enlarged platelets

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7324594a1b1d71bc5a4d3eae6402a826
https://doi.org/10.1101/2020.07.06.20143263

المؤلفون: Francesco Cucca, Matteo Floris, David Schlessinger, Stefania Olla

المصدر: Trends in Genetics. 34:558-570

مصطلحات موضوعية: 0301 basic medicine, Drug discovery, Quantitative Trait Loci, Druggability, Computational biology, Biology, Quantitative trait locus, Article, 03 medical and health sciences, 030104 developmental biology, Biological target, Drug Discovery, Genetics, Animals, Humans, Identification (biology), Genetic association

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7820030f0fa4112dfb84ec6c16c9a1c1
https://doi.org/10.1016/j.tig.2018.04.004

المؤلفون: David Schlessinger, Stephen Sawcer, Gabriella Sole, Mara Marongiu, Marcella Devoto, Edoardo Fiorillo, Antonella Mulas, Matteo Floris, Francesco Cucca, Stefania Olla, Mariano Dei, Myriam Gorospe, Valentina Serra, Michele Marongiu, Annalisa Loizedda, Maristella Steri, Francesca Deidda, Francesca Virdis, Magdalena Zoledziewska, Gonçalo R. Abecasis, Monia Lobina, Carlo Sidore, Maria Grazia Piras, Valeria Orrù, Sandra Lai, Mauro Pala, Maristella Pitzalis, Stefano Onano

المصدر: Nat Rev Rheumatol
Nat Genet

مصطلحات موضوعية: animal diseases, Cell, Genome-wide association study, chemical and pharmacologic phenomena, Autoimmunity, Biology, medicine.disease_cause, Genome, Polymorphism, Single Nucleotide, Article, Autoimmune Diseases, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Immune system, Humans, Italy, Phenotype, Genetic Predisposition to Disease, Genome-Wide Association Study, Genetics, medicine, Polymorphism, 030304 developmental biology, Autoimmune disease, 0303 health sciences, Single Nucleotide, biochemical phenomena, metabolism, and nutrition, medicine.disease, medicine.anatomical_structure, bacteria, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff190bbd6f7a7ba7600a7a29c25295b0
https://pubmed.ncbi.nlm.nih.gov/33328616

المؤلفون: Valentina Pes, Manuela Oppo, Stefano Sotgiu, Chiara Perria, Rossano Atzeni, Gianmauro Cuccuru, Andrea Angius, Paolo Uva, Gigliola Serra, Laura Crisponi, Stefano Onano, Stefania Olla, Ivana Persico, Francesco Cucca, Raoul C.M. Hennekam

المساهمون: APH - Quality of Care, Amsterdam Reproduction & Development (AR&D), Paediatric Genetics

المصدر: American Journal of Medical Genetics, Part A, 179(4), 634-638. Wiley-Liss Inc.
American journal of medical genetics. Part A, 179(4), 634-638. Wiley-Liss Inc.

مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, 030105 genetics & heredity, Biology, medicine.disease_cause, 03 medical and health sciences, Exon, Genetics, medicine, Humans, Missense mutation, CREB-binding protein, EP300, Genetic Association Studies, Genetics (clinical), Exome sequencing, Rubinstein-Taybi Syndrome, Mutation, Rubinstein–Taybi syndrome, Exons, Prognosis, medicine.disease, CREB-Binding Protein, Phenotype, Pedigree, 030104 developmental biology, biology.protein, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0ebbebcbe1c7a5a1879d2cb09db82e3
https://research.vumc.nl/en/publications/cd0991b8-eddb-40fa-adab-d5bcd67ac786

المؤلفون: Magdalena Zoledziewska, Michele Marongiu, Francesca Deidda, Mariano Dei, Maria Grazia Piras, Valeria Orrù, Monia Lobina, Maristella Steri, Valentina Serra, Myriam Gorospe, Mara Marongiu, Marcella Devoto, Francesca Virdis, Sandra Lai, Edoardo Fiorillo, Gabriella Sole, Carlo Sidore, Gonçalo R. Abecasis, Mauro Pala, Stefano Onano, Annalisa Loizedda, Antonella Mulas, Matteo Floris, Stefania Olla, Francesco Cucca, David Schlessinger, Stephen Sawcer, Maristella Pitzalis

المصدر: Nature Genetics. 52:1266-1266

مصطلحات موضوعية: Immune system, Immunology, Genetics, MEDLINE, medicine, Biology, medicine.disease_cause, Autoimmunity

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::de52621808d9b05f9c1c2f4ef1f56a09
https://doi.org/10.1038/s41588-020-00718-6

المؤلفون: Matteo, Floris, Stefania, Olla

المصدر: Methods in molecular biology (Clifton, N.J.). 1800

مصطلحات موضوعية: Databases, Factual, Models, Chemical, Molecular Structure, Quantitative Structure-Activity Relationship, Toxicology, Algorithms, Software

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c72134a2618ff4c3add7f82a20fee1d9
https://pubmed.ncbi.nlm.nih.gov/29934892

المؤلفون: Stefania Olla, Matteo Floris

المصدر: Methods in Molecular Biology ISBN: 9781493978984

مصطلحات موضوعية: 0301 basic medicine, Quantitative structure–activity relationship, Computer science, Experimental data, Context (language use), Chemical similarity, computer.software_genre, 01 natural sciences, 0104 chemical sciences, 010404 medicinal & biomolecular chemistry, 03 medical and health sciences, 030104 developmental biology, Similarity (network science), Cheminformatics, Data mining, computer

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::aef31615e5ab987e955f7fb2d8d0cd37
https://doi.org/10.1007/978-1-4939-7899-1_7

المؤلفون: Marco Marcelli, Rossano Atzeni, Eleonora Porcu, Mauro Congia, Robert H. Lyons, Christine Brennan, Maristella Pitzalis, Wieslawa I. Mentzen, Silvia Naitza, Francesco Cucca, Frederic Reinier, Rosella Pilu, Stefania Olla, Brendan Tarrier, Serena Sanna, Mariano Dei, Silvana Anna Maria Urru, Monia Lobina, Manuela Oppo, Lidia Leoni, Chris Jones, Fabio Busonero, Maristella Steri, Francesca Virdis, Ilenia Zara, Carlo Sidore, Gianluca Rotta, Maria Grazia Piras, Valeria Orrù, Riccardo Berutti, Magdalena Zoledziewska, Francesca Deidda, Sergio Uzzau, Michael B. Whalen, Gabriella Sole, Luca Pireddu, Maria Francesca Urru, Davide Firinu, Roberto Cusano, Andrea Maschio, Edoardo Fiorillo, Alan Kwong, Gonçalo R. Abecasis, Antonella Mulas, Matteo Floris, David Schlessinger, Andrea Angius, M. Valentini, Valentina Serra, Hyun Min Kang, Michele Marongiu, Sandra Lai

المصدر: Cell. 155(1):242-256

مصطلحات موضوعية: Genome-wide association study, Human leukocyte antigen, Disease, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Article, Autoimmunity, 03 medical and health sciences, 0302 clinical medicine, Immune system, medicine, Humans, Genetic Predisposition to Disease, 030304 developmental biology, Genetics, Autoimmune disease, 0303 health sciences, Biochemistry, Genetics and Molecular Biology(all), Heritability, medicine.disease, Flow Cytometry, 3. Good health, Phenotype, Immune System Diseases, Trait, 030217 neurology & neurosurgery, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48574ba8d9c6bdb960d2bc7dbfda02e6

المؤلفون: Alessandro Bulfone, Matteo Floris, Andrea Cristiani, Ricardo Medda, Stefania Olla, Davide Sabbadin, Stefano Moro, Marco Fanton

المصدر: Molecular Informatics. 32:681-684

مصطلحات موضوعية: MMsDusty, Computer science, Organic Chemistry, Chemoinformatics, computer.software_genre, Computer Science Applications, Chemical database, Chemical redundancy, InChI, Structural Biology, Cheminformatics, Drug Discovery, Redundancy (engineering), Molecular Medicine, Data mining, computer

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b507d45d67fab698c8b1c7d9ee1ec6df
https://doi.org/10.1002/minf.201300061

المؤلفون: Magdalena Zoledziewska, Myriam Gorospe, Lorena Lorefice, Gabriele Farina, Izaura Lima Bomfim, Eleonora Cocco, Antonella Mulas, Matteo Floris, Roberto Cusano, Francesco Cucca, Maria J. Castillo-Palma, Edoardo Fiorillo, M. Laura Idda, Michael B. Whalen, Antonello Pani, Maria Giovanna Danieli, Stephen B. Montgomery, Fabio Busonero, Gabriella Sole, Sandra Lai, Jessica Frau, Alessandro P Delitala, Stefania Olla, Valeria Faà, Michele Marongiu, Ana Suárez, Matteo Piga, Davide Firinu, Serena Sanna, Isadora Asunis, Tomas Olsson, Marta E. Alarcón Riquelme, Joseph Marcus, Francesca Virdis, Manila Deiana, Ilenia Zara, Jan Hillert, N. Barizzone, Maurizio Marchini, Maristella Steri, Valentina Serra, Paola Ferrigno, Giancarlo Coghe, Gianmauro Cuccuru, Sandra D'Alfonso, Mauro Congia, Maurizio Leone, Mara Marongiu, Maristella Pitzalis, Patricia Carreira, Andrea Maschio, Stephen Sawcer, Maria Giovanna Marrosu, David Schlessinger, Monia Lobina, Giulio Rosati, Mario Pani, Ingrid Kockum, Stefano Del Giacco, Alessandra Meloni, Franca Rosa Guerini, Mariano Dei, Alessandro Mathieu, Gonçalo R. Abecasis, Eleonora Porcu, Maria Grazia Piras, Valeria Orrù, Giuseppe Fenu, Mauro Pala, John Novembre, Maria Anna Satta, Antonio Gonzalez, Fausto Pier'Angelo Poddie, John A. Todd, Maurizio Melis, Berta M. da Silva, Francesca Deidda, Lars Alfredsson, Carlo Sidore, Maria Ban, Andrea Angius

المساهمون: Sawcer, Stephen [0000-0001-7685-0974], Apollo - University of Cambridge Repository

المصدر: The New England journal of medicine
376 (2017): 1615–1626. doi:10.1056/NEJMoa1610528
info:cnr-pdr/source/autori:Steri, M.; Orru, V.; Idda, M. L.; Pitzalis, M.; Pala, M.; Zara, I.; Sidore, C.; Faa, V.; Floris, M.; Deiana, M.; Asunis, I.; Porcu, E.; Mulas, A.; Piras, M. G.; Lobina, M.; Lai, S.; Marongiu, M.; Serra, V.; Marongiu, M.; Sole, G.; Busonero, F.; Maschio, A.; Cusano, R.; Cuccuru, G.; Deidda, F.; Poddie, F.; Farina, G.; Dei, M.; Virdis, F.; Olla, S.; Satta, M. A.; Pani, M.; Delitala, A.; Cocco, E.; Frau, J.; Coghe, G.; Lorefice, L.; Fenu, G.; Ferrigno, P.; Ban, M.; Barizzone, N.; Leone, M.; Guerini, F. R.; Piga, M.; Firinu, D.; Kockum, I.; Bomfim, I. Lima; Olsson, T.; Alfredsson, L.; Suarez, A.; Carreira, P. E.; Castillo-Palma, M. J.; Marcus, J. H.; Congia, M.; Angius, A.; Melis, M.; Gonzalez, A.; Riquelme, M. E. A.; da Silva, B. M.; Marchini, M.; Danieli, M. G.; Del Giacco, S.; Mathieu, A.; Pani, A.; Montgomery, S. B.; Rosati, G.; Hillert, J.; Sawcer, S.; D'Alfonso, S.; Todd, J. A.; Novembre, J.; Abecasis, G. R.; Whalen, M. B.; Marrosu, M. G.; Meloni, A.; Sanna, S.; Gorospe, M.; Schlessinger, D.; Fiorillo, E.; Zoledziewska, M.; Cucca, F./titolo:Overexpression of the Cytokine BAFF and Autoimmunity Risk/doi:10.1056%2FNEJMoa1610528/rivista:The New England journal of medicine (Print)/anno:2017/pagina_da:1615/pagina_a:1626/intervallo_pagine:1615–1626/volume:376
New England Journal of Medicine
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
RUO. Repositorio Institucional de la Universidad de Oviedo
instname
RUO: Repositorio Institucional de la Universidad de Oviedo
Universidad de Oviedo (UNIOVI)

مصطلحات موضوعية: 0301 basic medicine, transcription, genetic, Transcription, Genetic, SLE, Gene Expression, Autoimmunity, Genome-wide association study, medicine.disease_cause, multiple sclerosis, 0302 clinical medicine, INDEL Mutation, systemic lupus erythematosus, B-Cell Activating Factor, cytokine, Lupus Erythematosus, Systemic, humans, risk, Genetics, autoimmunity, polymorphism, single nucleotide, General Medicine, 3. Good health, TNFSF13B, drug target B-cell activating factor (BAFF), Phenotype, Italy, BAFF, Risk, Multiple Sclerosis, phenotype, gene Expression, Biology, sequence analysis, RNA, Polymorphism, Single Nucleotide, 03 medical and health sciences, medicine, Humans, B-cell activating factor, Genetic association, Autoimmune disease, Lupus erythematosus, Sequence Analysis, RNA, case-control studies, Multiple sclerosis, Case-control study, MS, medicine.disease, MicroRNAs, 030104 developmental biology, Case-Control Studies, Immunology, 030217 neurology & neurosurgery, Genome-Wide Association Study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94006477334d1b3c6054c68f07bdc605
http://hdl.handle.net/11562/960591