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Mostrando 1-12 de 1398 artigos, teses e dissertações.
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1. A germline-targeted genetic screen for xrn-2 suppressors identifies a novel gene C34C12.2 in Caenorhabditis elegans
Abstract XRN2 is an evolutionarily conserved 5’-to-3’ exoribonuclease, which degrades or trims various types of RNA in the nucleus. Although XRN-2 is essential for embryogenesis, larval development and reproduction in Caenorhabditis elegans, relevant molecular pathways remain unidentified. Here we create a germline-specific xrn-2 conditional mutant and p
Genetics and Molecular Biology. Publicado em: 2023
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2. Bullous pemphigoid and milia: prevalence and clinical laboratory findings in a Brazilian sample
Abstract Background: Bullous pemphigoid (BP) associated with milia lesions has been increasingly reported, but its prevalence has not been reported in a Brazilian BP population yet. Objectives: To describe the occurrence and clinical-laboratorial findings of BP-milia association in a southeastern Brazilian sample. Methods: A descriptive study based on the
Anais Brasileiros de Dermatologia. Publicado em: 2022
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3. Polymorphisms in the heme oxygenase-1 and bone morphogenetic protein receptor type 1b genes and estimated glomerular filtration rate in Brazilian sickle cell anemia patients
ABSTRACT Introduction Mutations affecting genes involved in oxidative and signaling pathways may be associated with kidney disease in sickle cell anemia. We determined the allele and genotype frequencies of some polymorphisms in the promoter regions of the Heme Oxygenase-1 (HMOX1) [rs2071746 (A > T) and (GT)n repeats, short (S) and long (L) alleles] and Bon
Hematol., Transfus. Cell Ther.. Publicado em: 2021-06
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4. Polymorphism of Serotonin Transporter SLC6A4 (5-HTTLPR) Gene in Cheilitis Angularis Patients
Abstract Objective: To determine the relationship between the Serotonin transporter SLC6A4 (5-HTTLPR) gene polymorphism in cheilitis angularis patients. Material and Methods: We conducted a descriptive analysis of 100 DNA samples extracted from the blood serum of 50 patients with cheilitis angularis and 50 patients without cheilitis angularis. Analysis of
Pesqui. Bras. Odontopediatria Clín. Integr.. Publicado em: 13/01/2020
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5. 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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6. Assessing genetic diversity and population structure in a Dipteryx alata germplasm collection utilizing microsatellite markers
Abstract Dipteryx alata Vogel (Leguminosae) is a native Neotropical tree with a wide distribution in the Brazilian Cerrado that is commonly known as the baru tree. The genetic diversity of 150 D. alata progeny from a germplasm collection was characterized using nine microsatellite markers. Genetic diversity analysis detected 50 alleles ranging from 2 to 14 a
Crop Breed. Appl. Biotechnol.. Publicado em: 31/10/2019
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7. Temporal evolution of antimicrobial resistance among Neisseria gonorrhoeae clinical isolates in the most populated South American Metropolitan Region
A total of 124 Neisseria gonorrhoeae isolates recovered during a 12-year period (2003-2015) from outpatients assisted at Centro de Referência e Treinamento DST/AIDS-CRT of São Paulo city, Brazil, were analysed. The following resistance rates were observed: penicillin-59.6%, ciprofloxacin-15.3%, and azithromycin-6.7%. Although reduced susceptibility to thes
Mem. Inst. Oswaldo Cruz. Publicado em: 12/08/2019
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8. Discovery and characterization of SSR markers in Eugenia uniflora L. (Myrtaceae) using low coverage genome sequencing
Abstract: Eugenia uniflora L. (Myrtaceae) is a tree species widely distributed in South America suffering the effects of the exploitation of natural populations. In this study, we employed low coverage sequencing of the E. uniflora genome for mining of SSR markers. The de novo assembly generated 2,601 contigs with an average length of 1139 bp and spans 3.15
An. Acad. Bras. Ciênc.. Publicado em: 08/04/2019
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9. Molecular genotyping of G6PD mutations and Duffy blood group in Afro-descendant communities from Brazilian Amazon
Abstract Glucose-6-phosphate dehydrogenase deficiency (G6PDd) and Duffy-negative blood group are two red blood cells variants that confer protection against malaria. In this study, the distribution of the most common G6PD variants (G6PD*A-, GGPD*A and G6PD Mediterranean) and the major alleles of the Duffy blood group (FY*A, FY*B and FY*BES) were investigated
Genet. Mol. Biol.. Publicado em: 29/11/2018
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10. Phylogenomic and single nucleotide polymorphism analyses revealed the hybrid origin of Spondias bahiensis (family Anacardiaceae): de novo genome sequencing and comparative genomics
Abstract The genus Spondias (family Anacardiaceae) comprises 19 taxa, ten of which occur in Neotropical regions. Spondias bahiensis has been suggested to be a hybrid, although initial evidence does not support this hypothesis. The aim of this study was to test the hypothesis of the hybrid origin of S. bahiensis using high-throughput sequencing with single nu
Genet. Mol. Biol.. Publicado em: 29/11/2018
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11. Search for DQ2.5 and DQ8 alleles using a lower cost technique in patients with type 1 diabetes and celiac disease in a population of southern Brazil
ABSTRACT Objective To evaluate the frequency of DQ2.5 and DQ8 alleles using the Tag-single-nucleotide polymorphism (Tag-SNP) technique in individuals with type 1 diabetes mellitus (T1DM) and celiac disease (CD) in southern Brazil. Materials and methods In a prospective design, we performed the search for DQA1*0501 and DQB1*0201 alleles for DQ2.5 and DQB1
Arch. Endocrinol. Metab.. Publicado em: 13/07/2017
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12. The role of the CNR1 gene in schizophrenia: a systematic review including unpublished data
Objective: Schizophrenia is a multifactorial disorder. It is known that a combination of extensive multiple common alleles may be involved in its etiology, each contributing with a small to moderate effect, and, possibly, some rare alleles with a much larger effect size. We aimed to perform a systematic review of association studies between schizophrenia (a
Rev. Bras. Psiquiatr.. Publicado em: 12/01/2017