Zobrazeno 1 - 10
of 109
pro vyhledávání: '"URSULA MATTE"'
Autor:
Ana Carolina Mello, Delva Leao, Luis Dias, Felipe Colombelli, Mariana Recamonde-Mendoza, Andreia Carina Turchetto-Zolet, Ursula Matte
Publikováno v:
Genetics and Molecular Biology, Vol 46, Iss 3 suppl 1 (2024)
Abstract Synonymous single nucleotide variants (sSNVs) do not alter the primary structure of a protein, thus it was previously accepted that they were neutral. Recently, several studies demonstrated their significance to a range of diseases. Still, v
Externí odkaz:
https://doaj.org/article/20a5c76c0da744bd90d41e0f31b046b4
Publikováno v:
Anais da Academia Brasileira de Ciências, Vol 95, Iss 2 (2023)
Abstract CRISPR/Cas is being increasingly used for various applications. However, different countries introduce new technologies at different paces and purposes. This study reviews research progress using the CRISPR/Cas system in South America, focus
Externí odkaz:
https://doaj.org/article/e81d29a82c6a41c1a5a70578df45c468
Publikováno v:
PLoS ONE, Vol 18, Iss 5, p e0284866 (2023)
One of the main factors that attracts authors to choose a journal is the time interval between submission and publication, which varies between journals and subject matter. Here, we evaluated the time intervals between submission and publication acco
Externí odkaz:
https://doaj.org/article/f093f5db16a142899a852943cbb052b3
Autor:
Maria Teresa Vieira Sanseverino, Rejane G. Kessler, Maira G. Burin, Nina R. Stein, Rafaela F. Herman, Ursula Matte, Patrícia M. M. Barrios, José A. Magalhães
Publikováno v:
Clinical and Biomedical Research, Vol 21, Iss 3 (2022)
OBJETIVO: O desenvolvimento de técnicas para diagnosticar as condições genéticas intra-útero foi um grande avanço na genética clínica, mudando a perspectiva reprodutiva de famílias de risco. No Hospital de Clínicas de Porto Alegre (HCPA), o
Externí odkaz:
https://doaj.org/article/747e894223d341418f872f3fbc2b2010
Autor:
Amando A. Motta, Themis R. da Silveira, Paulo R.A. Carvalho, José C. Fraga, Juarez Cunha, Débora Martinho, Cláudia Martins, Ursula Matte, Gledson Gastaldo, Jorge Bajerski, Thadeu Czersk, Roberto Malmann, Susana Barcellos
Publikováno v:
Clinical and Biomedical Research, Vol 18, Iss 3 (2022)
OBJETIVO: Avaliar as alterações hepáticas associadas à nutrição parenteral em ratos. MATERIAIS E MÉTODOS: Foram avaliados quatro grupos com 10 ratos cada: grupo I - controles alimentados, via oral, com dieta habitual; grupo II - em dieta habit
Externí odkaz:
https://doaj.org/article/5a4eb8fe372e4ee6a216e2ec769cf66d
Autor:
Luiza Monteavaro Mariath, Ana Elisa Kiszewski, Jeanine Aparecida Frantz, Marina Siebert, Ursula Matte, Lavínia Schuler-Faccini
Publikováno v:
Anais Brasileiros de Dermatologia, Vol 96, Iss 2, Pp 155-162 (2021)
Abstract Background: Epidermolysis bullosa is characterized by cutaneous fragility and blistering. Historically, diagnosis is achieved by immunofluorescence mapping or transmission electron microscopy, both involving biopsy procedures. Genetic analys
Externí odkaz:
https://doaj.org/article/f6e7d443cd9e4fdcbb0a9e52ce6ce87e
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 10 (2022)
Abstract Mucopolysaccharidoses (MPS) are lysosomal diseases caused by deficiencies in lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs). Sensorineural hearing impairment is a common feature in MPS patients, but there is no co
Externí odkaz:
https://doaj.org/article/cece6715eab549b6953cfa349b821cb7
Publikováno v:
Neuroscience Informatics, Vol 2, Iss 1, Pp 100036- (2022)
Mucopolysaccharidoses (MPS) are rare lysosomal storage diseases characterized by defects in the activity of lysosomal hydrolases that degrade glycosaminoglycan, with progressive multisystemic involvement. Neurological damage is present in several MPS
Externí odkaz:
https://doaj.org/article/4e9c403ae60140afaa0a7193e65a5aba
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Abstract Background In this study, the prevalence of different types of mucopolysaccharidoses (MPS) was estimated based on data from the exome aggregation consortium (ExAC) and the genome aggregation database (gnomAD). The population-based allele fre
Externí odkaz:
https://doaj.org/article/1c12f9b1c4f54d9d98be953a87b012c7
Publikováno v:
PLoS ONE, Vol 17, Iss 1 (2022)
Mucopolysaccharidosis type I (MPS I) is caused by alpha-L-iduronidase deficiency encoded by the IDUA gene. Therapy with CRISPR/Cas9 is being developed for treatment, however a detailed investigation of off-target effects must be performed. This study
Externí odkaz:
https://doaj.org/article/105864e3ab534c649c7c4d555e00d9bd