Molecular Genetics
Mostrando 1-12 de 776 artigos, teses e dissertações.
-
1. Genetics of COVID-19
Abstract Objective This narrative, non-systematic review provides an update on the genetic aspects of the SARS-CoV-2 virus and its interactions with the human genome within the context of COVID-19. Although the main focus is on the etiology of this new disease, the genetics of SARS-CoV-2 impacts prevention, diagnosis, prognosis, and the development of thera
J. Pediatr. (Rio J.). Publicado em: 2021-08
-
2. What can we learn from measuring IgE to allergens and allergen components in tropical and subtropical settings in Brazil?
Abstract Objective This narrative, non-systematic review provides an update on the genetic aspects of the SARS-CoV-2 virus and its interactions with the human genome within the context of COVID-19. Although the main focus is on the etiology of this new disease, the genetics of SARS-CoV-2 impacts prevention, diagnosis, prognosis, and the development of thera
J. Pediatr. (Rio J.). Publicado em: 2021-08
-
3. Genetic-molecular characterization in the diagnosis of primary immunodeficiencies
Abstract Objectives: To rescue medical genetics concepts that are necessary to understand the advances in the genetic-molecular characterization of primary immunodeficiencies, to help in the understanding and adequate interpretation of their results. Source of data: Non-systematic literature review, searching for articles since 2000 on PubMed using the ter
J. Pediatr. (Rio J.). Publicado em: 2021-04
-
4. Alternative methodologies for genotyping polymorphisms in the CAST and CAPN1 genes in beef cattle
ABSTRACT The objectives of this study were to genotype single nucleotide polymorphisms (SNP) AF159246:g.2959A>G (CAST/DdeI) and AF248054.2:g.6545C>T (CAPN4751) in beef cattle by PCR-RFLP (Polymerase Chain Reaction - Restriction Fragment Length Polymorphism), using the restriction enzyme DdeI for both SNP, and describe the use of these genotyping methodologie
R. Bras. Zootec.. Publicado em: 28/11/2019
-
5. Aspectos genéticos do envelhecimento e doenças associadas: uma complexa rede de interações entre genes e ambiente
Resumo O envelhecimento é um processo dinâmico, no qual ocorrem modificações do nível molecular ao morfo-fisiológico, logo após a maturidade, que induzem ao declínio orgânico, aumentando a susceptibilidade e vulnerabilidade a doenças e à morte. A genética do envelhecimento dedica-se ao estudo da contribuição hereditária da espécie e sua inter
Rev. bras. geriatr. gerontol.. Publicado em: 24/10/2019
-
6. Optimized protocol to isolate high quality genomic DNA from different tissues of a palm species
RESUMO A aplicação de técnicas moleculares para lidar com questões ecológicas e evolutivas requer DNA genômico de boa qualidade e quantidade. A qualidade do DNA isolado, no entanto, pode ser influenciada pelo tipo de tecido e pela maneira como a amostra foi conservada e manipulada. Portanto, personalizar protocolos para melhorar o isolamento do DNA e a
Hoehnea. Publicado em: 22/07/2019
-
7. The study of copy number variations in the regions of PRKAB2 and PPM1K among congenital heart defects patients
RESUMO OBJETIVO: Este estudo teve como objetivo avaliar a associação genética do número de cópias em dois genes (PRKAB2 e PPM1K) localizados em duas regiões (tetralogia de Fallot e comunicação interventricular) em uma população chinesa da etnia Han. METODOLOGIA: Um total de 200 pacientes com doença cardíaca congênita (100 pacientes com tetralo
Rev. Assoc. Med. Bras.. Publicado em: 22/07/2019
-
8. Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery
ABSTRACT The first description of patients with combined pituitary hormone deficiencies (CPHD) caused by PROP1 mutations was made 20 years ago. Here we updated the clinical and genetic characteristics of patients with PROP1 mutations and summarized the phenotypes of 14 patients with 7 different pathogenic PROP1 mutations followed at the Hospital das Clínica
Arch. Endocrinol. Metab.. Publicado em: 13/05/2019
-
9. From abortion-inducing medications to Zika Virus Syndrome: 27 years experience of the First Teratogen Information Service in Latin America
Abstract In 1990, the first Teratogen Information Service in Brazil (SIAT) was implemented in the Medical Genetics Service at Hospital de Clinicas de Porto Alegre. SIAT is a free-to-use information service both to health professionals and the general population, especially to women who are pregnant or planning pregnancy. The main objective of this paper is t
Genet. Mol. Biol.. Publicado em: 11/04/2019
-
10. Global panorama of studies about freshwater oligochaetes: main trends and gaps
Abstract Freshwater oligochaetes have been studied over the years in a wide range of habitats around the world. To analyse the data published about freshwater oligochaetes in the 31 year period between 1985 and 2015, we searched for documents in the ISI Web of Science, Scopus and SciELO databases. A total of 979 works were evaluated from 184 periodicals. The
Pap. Avulsos Zool.. Publicado em: 08/10/2018
-
11. Evaluating the current state of the art of Huntington disease research: a scientometric analysis
Huntington disease (HD) is an incurable neurodegenerative disorder caused by a dominant mutation on the 4th chromosome. We aim to present a scientometric analysis of the extant scientific undertakings devoted to better understanding HD. Therefore, a quantitative study was performed to examine the current state-of-the-art approaches that foster researchers’
Braz J Med Biol Res. Publicado em: 11/01/2018
-
12. Complete sequence and comparative analysis of the chloroplast genome of Plinia trunciflora
Abstract Plinia trunciflora is a Brazilian native fruit tree from the Myrtaceae family, also known as jaboticaba. This species has great potential by its fruit production. Due to the high content of essential oils in their leaves and of anthocyanins in the fruits, there is also an increasing interest by the pharmaceutical industry. Nevertheless, there are fe
Genet. Mol. Biol.. Publicado em: 06/11/2017