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TITLE: GENERATION OF MICE EXPRESSING IN THE LIVER HUMAN SPLICING MUTATIONS: A GOOD MODEL TO TEST IN VIVO THE THERAPEUTIC EFFICACY OF MODIFIED U1 SNRNAS FOR MUCOPOLYSACCHARIDOSIS TYPE IIIC  Full Text
AUTHORS: Goncalves, Mariana; Matos, Liliana; Santos, Juliana I.; Coutinho, Maria Francisca; Prata, Maria Joao ; Pires, Maria Joao; Oliveira, Paula; Alves, Sandra;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
3
TITLE: WHEN FOLKLORE MEETS SCIENCE: THE 21ST CENTURY BABY TEETH COLLECTOR THAT IS HELPING US SHED LIGHT OVER RARE GENETIC DISORDERS  Full Text
AUTHORS: Carvalho, Sofia; Santos, Juliana Ines; Moreira, Luciana; Gaspar, Paulo; Goncalves, Mariana; Matos, Liliana; Encarnacao, Marisa; Ribeiro, Diogo; Duarte, Ana Joana; Prata, Maria Joao ; Coutinho, Maria Francisca; Alves, Sandra;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
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TITLE: Enzyme Characterization of Pro-virulent SntA, a Cell Wall-Anchored Protein of Streptococcus suis, With Phosphodiesterase Activity on cyclic-di-AMP at a Level Suited to Limit the Innate Immune System  Full Text
AUTHORS: Cabezas, Alicia; Costas, Maria Jesus; Canales, Jose; Pinto, Rosa Maria; Rodrigues, Joaquim Rui; Ribeiro, Joao Meireles ; Cameselle, Jose Carlos;
PUBLISHED: 2022, SOURCE: FRONTIERS IN MICROBIOLOGY, VOLUME: 13
INDEXED IN: Scopus WOS
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TITLE: Hb F Levels in beta-Thalassemia Carriers and Normal Individuals: Known and Unknown Quantitative Trait Loci in the beta-Globin Gene Cluster  Full Text
AUTHORS: Manco, Licinio; Santos, Raquel; Rocha, Catarina; Relvas, Luis; Bento, Celeste; Maia, Tabita; Gomes, Veronica; Amorim, Antonio ; Prata, Maria J. ;
PUBLISHED: 2022, SOURCE: HEMOGLOBIN, VOLUME: 46, ISSUE: 3
INDEXED IN: WOS CrossRef
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TITLE: Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses Example  Full Text
AUTHORS: Santos, Juliana Ines; Goncalves, Mariana; Matos, Liliana; Moreira, Luciana; Carvalho, Sofia; Prata, Maria Joao ; Coutinho, Maria Francisca; Alves, Sandra;
PUBLISHED: 2022, SOURCE: LIFE-BASEL, VOLUME: 12, ISSUE: 5
INDEXED IN: Scopus WOS
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TITLE: Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity  Full Text
AUTHORS: Lopes Marques, M; Pacheco, AR; Peixoto, MJ; Cardoso, AR; Serrano, C; Amorim, Antonio ; Prata, MJ ; Cooper, DN; Azevedo, L ;
PUBLISHED: 2021, SOURCE: HUMAN MUTATION, VOLUME: 42, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 4
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TITLE: Compensatory epistasis explored by molecular dynamics simulations  Full Text
AUTHORS: Serrano, C; Teixeira, CSS; Cooper, DN; Carneiro, J; Lopes Marques, M; Stenson, PD; Amorim, Antonio ; Prata, MJ ; Sérgio F. Sousa ; Azevedo, L ;
PUBLISHED: 2021, SOURCE: HUMAN GENETICS, VOLUME: 140, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef: 6
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TITLE: Evolutionary dynamics of the human pseudoautosomal regions  Full Text
AUTHORS: Monteiro, B; Arenas, M; Prata, MJ ; Amorim, Antonio ;
PUBLISHED: 2021, SOURCE: PLOS GENETICS, VOLUME: 17, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 16
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