Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Maria Joao Prata"'
Autor:
Neus Font-Porterias, Lara R Arauna, Alaitz Poveda, Erica Bianco, Esther Rebato, Maria Joao Prata, Francesc Calafell, David Comas
Publikováno v:
PLoS Genetics, Vol 15, Iss 9, p e1008417 (2019)
The Roma population is the largest transnational ethnic minority in Europe, characterized by a linguistic, cultural and historical heterogeneity. Comparative linguistics and genetic studies have placed the origin of European Roma in the Northwest of
Externí odkaz:
https://doaj.org/article/4341a5867c804738ad0a96b6338fcc0b
Autor:
Sofia Carvalho, Juliana Inês Santos, Luciana Moreira, Ana Joana Duarte, Paulo Gaspar, Hugo Rocha, Marisa Encarnação, Diogo Ribeiro, Matilde Barbosa Almeida, Mariana Gonçalves, Hugo David, Liliana Matos, Olga Amaral, Luísa Diogo, Sara Ferreira, Constança Santos, Esmeralda Martins, Maria João Prata, Luís Pereira de Almeida, Sandra Alves, Maria Francisca Coutinho
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 6, p 3546 (2024)
Among the many lysosomal storage disorders (LSDs) that would benefit from the establishment of novel cell models, either patient-derived or genetically engineered, is mucopolysaccharidosis type II (MPS II). Here, we present our results on the establi
Externí odkaz:
https://doaj.org/article/cb3430bbef714d0a8a945d9dc54a2427
Autor:
Monica Lopes-Marques, Raquel Silva, Catarina Serrano, Verónica Gomes, Ana Cardoso, Maria João Prata, Antonio Amorim, Luisa Azevedo
Publikováno v:
PeerJ, Vol 10, p e13913 (2022)
Common genetic polymorphisms may modify the phenotypic outcome when co-occurring with a disease-causing variant, and therefore understanding their modulating role in health and disease is of great importance. The polymorphic p.His558Arg variant of th
Externí odkaz:
https://doaj.org/article/f89c4b59619145ec8c285dd3e8a6c8b4
Publikováno v:
PLoS Genetics, Vol 17, Iss 4, p e1009532 (2021)
Recombination between the X and Y human sex chromosomes is limited to the two pseudoautosomal regions (PARs) that present quite distinct evolutionary origins. Despite the crucial importance for male meiosis, genetic diversity patterns and evolutionar
Externí odkaz:
https://doaj.org/article/687c6e023e2c4220a2a8b1aa4dbf5174
Autor:
Juliana Inês Santos, Mariana Gonçalves, Liliana Matos, Luciana Moreira, Sofia Carvalho, Maria João Prata, Maria Francisca Coutinho, Sandra Alves
Publikováno v:
Life, Vol 12, Iss 5, p 608 (2022)
Over recent decades, the many functions of RNA have become more evident. This molecule has been recognized not only as a carrier of genetic information, but also as a specific and essential regulator of gene expression. Different RNA species have bee
Externí odkaz:
https://doaj.org/article/f63e9b6f3b774125934e9d7e77ee6cf4
Autor:
Liliana Matos, Vânia Gonçalves, Eugénia Pinto, Francisco Laranjeira, Maria João Prata, Peter Jordan, Lourdes R. Desviat, Belén Pérez, Sandra Alves
Publikováno v:
Data in Brief, Vol 5, Iss C, Pp 810-817 (2015)
This data article contains insights into the methodology used for the analysis of three exonic mutations altering the splicing of the IDS gene: c.241C>T, c.257C>T and c.1122C>T. We have performed splicing assays for the wild-type and mutant minigenes
Externí odkaz:
https://doaj.org/article/ace902da51ee423195f805a5d9f87af6
Autor:
Maria Francisca Coutinho, Juliana Inês Santos, Liliana S. Mendonça, Liliana Matos, Maria João Prata, Amália S. Jurado, Maria C. Pedroso de Lima, Sandra Alves
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 16, p 5732 (2020)
More than two thirds of Lysosomal Storage Diseases (LSDs) present central nervous system involvement. Nevertheless, only one of the currently approved therapies has an impact on neuropathology. Therefore, alternative approaches are under development,
Externí odkaz:
https://doaj.org/article/db790f417c684e1ab5487cc98d9a6322
Autor:
Maria Francisca Coutinho, Marisa Encarnação, Liliana Matos, Lisbeth Silva, Diogo Ribeiro, Juliana Inês Santos, Maria João Prata, Laura Vilarinho, Sandra Alves
Publikováno v:
Diagnostics, Vol 10, Iss 2, p 58 (2020)
Here, we present the molecular diagnosis of a patient with a general clinical suspicion of Mucopolysaccharidosis, highlighting the different tools used to perform its molecular characterization. In order to decrease the turnaround time for the final
Externí odkaz:
https://doaj.org/article/31331fcb53034953abc929eac3eadb2e
Publikováno v:
Revista Portuguesa de Cardiologia, Vol 32, Iss 10, Pp 793-799 (2013)
Resumo: O nível plasmático de c-LDL constitui um determinante chave para o risco de doença cardiovascular, razão pela qual muitos estudos têm procurado elucidar as vias que regulam o seu metabolismo. As novas técnicas de sequenciação de últi
Externí odkaz:
https://doaj.org/article/08a31709eb00449588a428c5d9d53cbd