Gene Sequencing
Mostrando 1-12 de 4998 artigos, teses e dissertações.
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1. Association of FAAH p.Pro129Thr and COMT p.Ala72Ser with schizophrenia and comorbid substance use through next-generation sequencing: an exploratory analysis
Objective: Individuals with schizophrenia and substance use disorders have a poor prognosis and increased psychiatric symptoms. The present study aimed to explore the association of 106 genes in individuals with schizophrenia and comorbid substance use through a next-generation sequencing (NGS) analysis and different in silico algorithms. Methods: We includ
Brazilian Journal of Psychiatry. Publicado em: 2022
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2. Link between obsessive-compulsive disorder and polymorphisms in HDAC genes
Objective: Recently, epigenetic mechanisms related to histone modifications including histone deacetylation (HDAC) have been emphasized in psychiatric diseases. Few studies have investigated the relationship of HDAC gene variations to psychiatric diseases, but these gene variations have never been studied in obsessive-compulsive disorder (OCD). The present c
Brazilian Journal of Psychiatry. Publicado em: 2022
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3. The impact of the genetic background in a patient with papillary thyroid cancer and familial adenomatous polyposis
SUMMARY Thyroid cancer is the most common endocrine malignancy, and papillary thyroid carcinoma (PTC) is the main subtype. The cribriform morular variant is a histological phenotype of PTC characterized by its relationship with familial adenomatous polyposis (FAP). Description of the case: We report the genetic assessment of a 20-year-old female patient diag
Archives of Endocrinology and Metabolism. Publicado em: 2022
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4. Microbial activity and studies on excavated megalithic micaceous potsherds from Peninsular India
Abstract The abundantly available mica flakes were added in raw materials to manufacture pottery in Central Peninsular India during the early Iron Age (700-300 BCE) for storage and glittering. The micaceous potsherds from the excavated megalithic site of Nagpur were studied for their composition, manufacturing techniques, microstructural features, microbial
Cerâmica. Publicado em: 2021-06
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5. Gene panel for the diagnosis of epidermolysis bullosa: proposal for a viable and efficient approach,
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 analysis, especially through next-generation sequencing, is an important tool for the diagnosis of this disease. In
An. Bras. Dermatol.. Publicado em: 2021-03
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6. Anais Brasileiros de Dermatologia: 2016-2020 Administration. Actions and acknowledgements
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 analysis, especially through next-generation sequencing, is an important tool for the diagnosis of this disease. In
An. Bras. Dermatol.. Publicado em: 2021-03
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7. Detection of somatic TP53 mutations and 17p deletions in patients with chronic lymphocytic leukemia: a review of the current methods
ABSTRACT Chronic lymphocytic leukemia is the most common hematologic malignancy among adults in Western countries. Several studies show that somatic mutations in the TP53 gene are present in up to 50% of patients with relapsed or refractory chronic lymphocytic leukemia. This study aims to review and compare the methods used to detect somatic TP53 mutations a
Hematol., Transfus. Cell Ther.. Publicado em: 2020-09
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8. Screening and identification of bacteriocin-like inhibitory substances producing lactic acid bacteria from fermented products
Abstract A total of 544 isolates of lactic acid bacteria isolated from fermented products: 451 isolates from fermented products from Thailand and 93 isolated from French fermented products were screened for bacteriocin production. 10 isolates showed antimicrobial activities. Identification of the selected strains by random amplification of polymorphic DNA-po
Food Sci. Technol. Publicado em: 2020-09
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9. Evaluation of Polymorphisms in IL8 and IL16 Genes in Patients with Acute Coronary Syndrome
Abstract Background: Acute coronary syndrome (ACS) is a cardiovascular disease caused by obstruction of coronary arteries by atheromatous plaque. Susceptibility to this disease may be related to genetic variations, such as single nucleotide polymorphisms (SNPs). Objective: In this study, we evaluated the relationship between SNPs in IL8 (rs4073; -251 A/T)
Int. J. Cardiovasc. Sci.. Publicado em: 2020-05
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10. Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients
Abstract Phenylketonuria (PKU, OMIM 261600) is predominantly caused by mutations in the PAH gene. One hundred and three Argentine PKU patients were studied by Sanger sequencing; 101 were completely characterized (90.3% were compound heterozygotes). Fifty-four different pathogenic variants were identified. Mutations were distributed all along the PAH gene but
J. inborn errors metab. screen.. Publicado em: 20/12/2019
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11. Diversity of Endophytic and Epiphytic Bacteria From Sugarcane in Khuzestan, Iran
Abstract Diverse microorganisms are living as endophytes in plant tissues and as epiphytes on plant surfaces in nature. Commercial formulations of bacteria antagonist to plant pathogenic microbes and ice nucleation active bacteria have been utilized as an environmentally safe method to manage plant disease and to prevent frost damage respectively. Bacteria w
Braz. arch. biol. technol.. Publicado em: 20/12/2019
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12. Screening and identification of bacteriocin-like inhibitory substances producing lactic acid bacteria from fermented products
Abstract A total of 544 isolates of lactic acid bacteria isolated from fermented products: 451 isolates from fermented products from Thailand and 93 isolated from French fermented products were screened for bacteriocin production. 10 isolates showed antimicrobial activities. Identification of the selected strains by random amplification of polymorphic DNA-po
Food Sci. Technol. Publicado em: 20/12/2019