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Publisher: SciELO   (Total: 718 journals)

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Showing 401 - 600 of 718 Journals sorted alphabetically
Química Nova     Open Access   (SJR: 0.262, h-index: 50)
Radiologia Brasileira     Open Access   (Followers: 1, SJR: 0.211, h-index: 9)
RAE-eletrônica     Open Access   (Followers: 1)
RAM. Revista de Administração Mackenzie     Open Access  
RCOE     Open Access  
REAd : Revista eletrônica de administração     Open Access  
Región y Sociedad     Open Access  
Relações Internacionais (R:I)     Open Access  
Religião e Sociedade     Open Access   (Followers: 3)
Rem : Revista Escola de Minas     Open Access   (Followers: 1, SJR: 0.303, h-index: 9)
Revista Andaluza de Medicina del Deporte     Open Access   (Followers: 2, SJR: 0.152, h-index: 6)
Revista Archivo Médico de Camagüey     Open Access  
Revista Árvore     Open Access   (Followers: 1, SJR: 0.606, h-index: 20)
Revista Brasileira de Biologia     Open Access  
Revista Brasileira de Cardiologia Invasiva     Open Access   (SJR: 0.139, h-index: 5)
Revista Brasileira de Ciência Avicola     Open Access   (Followers: 1, SJR: 0.292, h-index: 12)
Revista Brasileira de Ciência do Solo     Open Access   (Followers: 1, SJR: 0.716, h-index: 37)
Revista Brasileira de Ciência Política     Open Access  
Revista Brasileira de Ciências do Esporte     Open Access   (Followers: 1, SJR: 0.147, h-index: 2)
Revista Brasileira de Ciências Farmaceuticas     Open Access  
Revista Brasileira de Ciências Sociais     Open Access   (Followers: 1, SJR: 0.138, h-index: 8)
Revista Brasileira de Cineantropometria & Desempenho Humano     Open Access   (SJR: 0.194, h-index: 13)
Revista Brasileira de Cirurgia Cardiovascular     Open Access   (SJR: 0.303, h-index: 16)
Revista Brasileira de Cirurgia Plástica     Open Access   (Followers: 1)
Revista Brasileira de Coloproctologia     Open Access  
Revista Brasileira de Economia     Open Access   (Followers: 1, SJR: 0.215, h-index: 8)
Revista Brasileira de Educação     Open Access   (SJR: 0.202, h-index: 6)
Revista Brasileira de Educação Especial     Open Access   (SJR: 0.205, h-index: 6)
Revista Brasileira de Educação Física e Esporte     Open Access   (Followers: 1)
Revista Brasileira de Educação Medica     Open Access  
Revista Brasileira de Enfermagem     Open Access   (SJR: 0.268, h-index: 13)
Revista Brasileira de Engenharia Agrícola e Ambiental     Open Access   (Followers: 1, SJR: 0.596, h-index: 21)
Revista Brasileira de Engenharia Biomédica     Open Access   (SJR: 0.16, h-index: 4)
Revista Brasileira de Ensino de Fisica     Open Access   (SJR: 0.204, h-index: 6)
Revista Brasileira de Entomologia     Open Access   (Followers: 1, SJR: 0.402, h-index: 20)
Revista Brasileira de Epidemiologia     Open Access   (Followers: 2, SJR: 0.412, h-index: 19)
Revista Brasileira de Estudos de População     Open Access   (Followers: 1, SJR: 0.214, h-index: 7)
Revista Brasileira de Estudos Pedagógicos     Open Access  
Revista Brasileira de Farmacognosia     Open Access   (SJR: 0.447, h-index: 27)
Revista Brasileira de Fisiologia Vegetal     Open Access  
Revista Brasileira de Fruticultura     Open Access   (SJR: 0.442, h-index: 17)
Revista Brasileira de Geofísica     Open Access   (Followers: 2, SJR: 0.181, h-index: 13)
Revista Brasileira de Geriatria e Gerontologia     Open Access  
Revista Brasileira de Hematologia e Hemoterapia     Open Access   (Followers: 1, SJR: 0.302, h-index: 11)
Revista Brasileira de Historia     Open Access   (Followers: 3, SJR: 0.1, h-index: 5)
Revista Brasileira de Linguística Aplicada     Open Access  
Revista Brasileira de Medicina do Esporte     Open Access   (Followers: 1, SJR: 0.184, h-index: 17)
Revista Brasileira de Meteorologia     Open Access   (Followers: 1, SJR: 0.191, h-index: 3)
Revista Brasileira de Oftalmologia     Open Access   (SJR: 0.135, h-index: 8)
Revista Brasileira de Otorrinolaringologia     Open Access  
Revista Brasileira de Parasitologia Veterinaria     Open Access   (SJR: 0.535, h-index: 17)
Revista Brasileira de Plantas Medicinais     Open Access   (SJR: 0.265, h-index: 17)
Revista Brasileira de Política Internacional     Open Access   (SJR: 0.188, h-index: 8)
Revista Brasileira de Psiquiatria     Open Access   (Followers: 1, SJR: 0.823, h-index: 36)
Revista Brasileira de Reumatologia     Open Access   (SJR: 0.354, h-index: 17)
Revista Brasileira de Saúde e Produção Animal     Open Access   (SJR: 0.243, h-index: 5)
Revista Brasileira de Saúde Materno Infantil     Open Access   (SJR: 0.198, h-index: 16)
Revista Brasileira de Sementes     Open Access  
Revista Brasileira de Terapia Intensiva     Open Access   (Followers: 1, SJR: 0.3, h-index: 6)
Revista Brasileira de Zoologia     Open Access  
Revista Brasileira de Zootecnia     Open Access   (Followers: 2, SJR: 0.436, h-index: 39)
Revista CEFAC     Open Access  
Revista Ceres     Open Access   (SJR: 0.433, h-index: 6)
Revista Chapingo. Serie horticultura     Open Access   (SJR: 0.127, h-index: 5)
Revista Chilena de Anatomia     Open Access  
Revista Chilena de Cardiología     Open Access  
Revista Chilena de Cirugia     Open Access   (SJR: 0.135, h-index: 6)
Revista Chilena de Derecho     Open Access   (SJR: 0.223, h-index: 4)
Revista Chilena de Derecho Privado     Open Access  
Revista Chilena de Enfermedades Respiratorias     Open Access   (SJR: 0.15, h-index: 7)
Revista Chilena de Infectología     Open Access   (SJR: 0.208, h-index: 14)
Revista Chilena de Literatura     Open Access   (Followers: 2, SJR: 0.102, h-index: 3)
Revista Chilena de Neuro-Psiquiatria     Open Access   (SJR: 0.165, h-index: 9)
Revista Chilena de Nutricion     Open Access   (Followers: 1, SJR: 0.198, h-index: 10)
Revista Chilena de Obstetricia y Ginecologia     Open Access   (Followers: 1, SJR: 0.103, h-index: 8)
Revista Chilena de Pediatria     Open Access   (SJR: 0.139, h-index: 11)
Revista Chilena de Radiologia     Open Access   (Followers: 1, SJR: 0.101, h-index: 4)
Revista Ciência Agronômica     Open Access   (SJR: 0.578, h-index: 14)
Revista Ciencias Técnicas Agropecuarias     Open Access  
Revista Científica Ciencia Médica     Open Access  
Revista Científica General José María Córdova     Open Access  
Revista Clínica de Medicina de Familia     Open Access   (Followers: 4)
Revista Clínica de Periodoncia, Implantología y Rehabilitación Oral     Open Access   (Followers: 1)
Revista Colombiana de Anestesiología     Open Access   (Followers: 2, SJR: 0.151, h-index: 5)
Revista Colombiana de Biotecnología     Open Access   (Followers: 1)
Revista Colombiana de Cirugía     Open Access  
Revista Colombiana de Educación     Open Access  
Revista Colombiana de Entomología     Open Access   (Followers: 2, SJR: 0.21, h-index: 11)
Revista Colombiana de Estadística     Open Access   (SJR: 0.419, h-index: 6)
Revista Colombiana de Matemáticas     Open Access   (Followers: 1, SJR: 0.102, h-index: 1)
Revista Colombiana de Psicología     Open Access   (SJR: 0.121, h-index: 3)
Revista Contabilidade & Finanças     Open Access  
Revista Costarricense de Cardiología     Open Access  
Revista Costarricense de Psicología     Open Access  
Revista Cubana de Anestesiología y Reanimación     Open Access   (Followers: 1)
Revista Cubana de Angiología y Cirugía Vascular     Open Access  
Revista Cubana de Cirugía     Open Access   (SJR: 0.12, h-index: 4)
Revista Cubana de Endocrinología     Open Access  
Revista Cubana de Enfermería     Open Access   (Followers: 2, SJR: 0.117, h-index: 4)
Revista Cubana de Estomatologí­a     Open Access   (SJR: 0.11, h-index: 4)
Revista Cubana de Farmacia     Open Access   (Followers: 1, SJR: 0.119, h-index: 5)
Revista Cubana de Hematología, Inmunología y Hemoterapia     Open Access   (SJR: 0.119, h-index: 5)
Revista Cubana de Higiene y Epidemiología     Open Access   (SJR: 0.101, h-index: 7)
Revista Cubana de Información en Ciencias de la Salud     Open Access   (SJR: 0.188, h-index: 5)
Revista Cubana de Informática Médica     Open Access  
Revista Cubana de Investigaciones Biomédicas     Open Access   (Followers: 1, SJR: 0.101, h-index: 7)
Revista Cubana de Medicina     Open Access   (Followers: 2, SJR: 0.132, h-index: 6)
Revista Cubana de Medicina General Integral     Open Access   (Followers: 1, SJR: 0.156, h-index: 9)
Revista Cubana de Medicina Militar     Open Access   (Followers: 1, SJR: 0.1, h-index: 7)
Revista Cubana de Medicina Tropical     Open Access   (SJR: 0.141, h-index: 14)
Revista Cubana de Obstetricia y Ginecología     Open Access   (SJR: 0.101, h-index: 8)
Revista Cubana de Oftalmología     Open Access   (Followers: 1)
Revista Cubana de Ortopedia y Traumatología     Open Access   (SJR: 0.1, h-index: 4)
Revista Cubana de Pediatrí­a     Open Access   (SJR: 0.192, h-index: 7)
Revista Cubana de Plantas Medicinales     Open Access   (Followers: 1, SJR: 0.168, h-index: 8)
Revista Cubana de Salud Pública     Open Access   (SJR: 0.253, h-index: 7)
Revista da Educação Física : UEM     Open Access   (SJR: 0.141, h-index: 3)
Revista da Escola de Enfermagem da USP     Open Access   (Followers: 2, SJR: 0.284, h-index: 19)
Revista da Faculdade de Educação     Open Access  
Revista da Sociedade Brasileira de Fonoaudiologia     Open Access  
Revista da Sociedade Brasileira de Medicina Tropical     Open Access   (SJR: 0.476, h-index: 40)
Revista de Administração Contemporânea     Open Access  
Revista de Administração de Empresas     Open Access   (Followers: 1, SJR: 0.207, h-index: 6)
Revista de Administração Pública     Open Access   (SJR: 0.209, h-index: 9)
Revista de Análisis Económico     Open Access   (SJR: 0.132, h-index: 2)
Revista de Antropologia     Open Access   (Followers: 3)
Revista de Bioética y Derecho     Open Access  
Revista de Biología Marina y Oceanografía     Open Access   (SJR: 0.334, h-index: 16)
Revista de Biología Tropical     Open Access   (Followers: 2, SJR: 0.378, h-index: 27)
Revista de Ciencia Politica     Open Access   (Followers: 2, SJR: 0.168, h-index: 9)
Revista de Ciencia y Tecnología     Open Access  
Revista de Ciências Agrárias     Open Access  
Revista de Ciencias Médicas de Pinar del Río     Open Access  
Revista de Ciencias Sociales     Open Access  
Revista de Derecho     Open Access   (Followers: 1, SJR: 0.164, h-index: 4)
Revista de Derecho (Coquimbo)     Open Access  
Revista de Economia Contemporânea     Open Access   (SJR: 0.117, h-index: 4)
Revista de Economía del Caribe     Open Access  
Revista de Economia e Sociologia Rural     Open Access   (Followers: 2, SJR: 0.248, h-index: 7)
Revista de Economía Institucional     Open Access   (SJR: 0.113, h-index: 3)
Revista de Economia Poli­tíca     Open Access   (Followers: 1, SJR: 0.274, h-index: 10)
Revista de Enfermagem Referência     Open Access   (Followers: 2)
Revista de Estudios Historico-Juridicos     Open Access   (Followers: 1, SJR: 0.1, h-index: 3)
Revista de Estudios Sociales     Open Access   (Followers: 1, SJR: 0.143, h-index: 4)
Revista de Filosofia     Open Access   (SJR: 0.11, h-index: 3)
Revista de Geografía Norte Grande     Open Access   (SJR: 0.15, h-index: 7)
Revista de Gestão Costeira Integrada     Open Access  
Revista de Historia Americana y Argentina     Open Access  
Revista de Ingeniería     Open Access  
Revista de la Asociación Española de Neuropsiquiatría     Open Access  
Revista de la Ciencia del Suelo y Nutricion Vegetal     Open Access  
Revista de la Construcción     Open Access   (SJR: 0.259, h-index: 4)
Revista de la Facultad de Derecho y Ciencias Políticas     Open Access  
Revista de la Sociedad Boliviana de Pediatría     Open Access  
Revista de la Sociedad Española de Enfermería Nefrológica     Open Access   (SJR: 0.19, h-index: 4)
Revista de la Universidad Industrial de Santander. Salud     Open Access  
Revista de Medicina Veterinaria     Open Access  
Revista de Microbiologia     Open Access   (Followers: 1)
Revista de Nutrição     Open Access   (SJR: 0.246, h-index: 27)
Revista de Odontologia da UNESP     Open Access  
Revista de Odontologia da Universidade de São Paulo     Open Access  
Revista de Osteoporosis y Metabolismo Mineral     Open Access   (Followers: 1)
Revista de Otorrinolaringología y Cirugía de Cabeza y Cuello     Open Access  
Revista de Protección Vegetal     Open Access  
Revista de Psicología del Trabajo y de las Organizaciones     Open Access   (SJR: 0.211, h-index: 4)
Revista de Psiquiatria Clínica     Open Access   (Followers: 1, SJR: 0.192, h-index: 17)
Revista de Psiquiatria do Rio Grande do Sul     Open Access   (Followers: 1)
Revista de Salud Animal     Open Access  
Revista de Salud Pública     Open Access   (Followers: 1, SJR: 0.138, h-index: 16)
Revista de Saúde Pública     Open Access   (Followers: 1, SJR: 0.629, h-index: 56)
Revista de Sociologia e Polí­tica     Open Access   (Followers: 2, SJR: 0.247, h-index: 6)
Revista Dental Press de Ortodontia e Ortopedia Facial     Open Access   (Followers: 1)
Revista Diacrítica     Open Access  
Revista Direito GV     Open Access   (Followers: 1)
Revista do Colégio Brasileiro de Cirurgiões     Open Access   (SJR: 0.252, h-index: 11)
Revista do Departamento de Psicologia. UFF     Open Access  
Revista do Hospital das Clinicas     Open Access  
Revista do Instituto de Estudos Brasileiros     Open Access  
Revista do Instituto de Medicina Tropical de São Paulo     Open Access   (SJR: 0.485, h-index: 37)
Revista Dor     Open Access  
Revista EIA     Open Access   (Followers: 1)
Revista electrónica de investigación educativa     Open Access   (Followers: 1, SJR: 0.105, h-index: 3)
Revista Española de Cirugía Oral y Maxilofacial     Open Access   (Followers: 1, SJR: 0.121, h-index: 3)
Revista Española de Enfermedades Digestivas     Open Access   (Followers: 1, SJR: 0.344, h-index: 29)
Revista Española de Salud Pública     Open Access   (SJR: 0.269, h-index: 26)
Revista Española de Sanidad Penitenciaria     Open Access   (SJR: 0.15, h-index: 3)
Revista Estudos Feministas     Open Access   (SJR: 0.134, h-index: 9)
Revista Facultad de Ciencias Económicas: Investigación y Reflexión     Open Access  
Revista Facultad de Ingenieria - Universidad de Tarapaca     Open Access  
Revista Facultad de Ingeniería Universidad de Antioquia     Open Access   (Followers: 1, SJR: 0.133, h-index: 5)
Revista Facultad de Odontología Universidad de Antioquia     Open Access  
Revista Facultad Nacional de Agronomía, Medellín     Open Access  
Revista Facultad Nacional de Salud Pública     Open Access  
Revista Gaúcha de Enfermagem     Open Access   (SJR: 0.197, h-index: 8)
Revista Geológica de América Central     Open Access  
Revista Geológica de Chile     Open Access   (Followers: 1)
Revista Gerencia y Políticas de Salud     Open Access   (SJR: 0.144, h-index: 4)
Revista Habanera de Ciencias Médicas     Open Access  
Revista Historia y Sociedad     Open Access  
Revista IBRACON de Estruturas e Materiais     Open Access   (Followers: 1)

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Journal Cover Genetics and Molecular Biology
  [SJR: 0.649]   [H-I: 37]   [11 followers]  Follow
    
  This is an Open Access Journal Open Access journal
   ISSN (Print) 1415-4757
   Published by SciELO Homepage  [718 journals]
  • The first of a series of articles dedicated to the 60th anniversary of the
           Brazilian Society of Genetics (SBG)

    •  
  • The role of natural selection in human evolution – insights from
           Latin America

    • Abstract: Abstract A brief introduction considering Darwin's work, the evolutionary synthesis, and the scientific biological field around the 1970s and subsequently, with the molecular revolution, was followed by selected examples of recent investigations dealing with the selection-drift controversy. The studies surveyed included the comparison between essential genes in humans and mice, selection in Africa and Europe, and the possible reasons why females in humans remain healthy and productive after menopause, in contrast with what happens in the great apes. At the end, selected examples of investigations performed in Latin America, related to the action of selection for muscle performance, acetylation of xenobiotics, high altitude and tropical forest adaptations were considered. Despite dissenting views, the influence of positive selection in a considerable portion of the human genome cannot presently be dismissed.
       
  • Lack of functional KL-VS polymorphism of the KLOTHO gene in the
           Korean population

    • Abstract: Abstract The functional variant of the Klotho "KL-VS" stretch, which includes six polymorphisms in linkage disequilibrium, is reportedly associated with healthy aging and longevity in European and American populations. Among Asian populations, this variant has been observed in the Indian population but not in the Iranian population. An association between KL-VS polymorphism and aging has not been reported in Koreans. To investigate whether the KL-VS polymorphism could be associated with healthy aging and longevity in a Korean population, we analyzed genotype and allele frequencies of the KL-VS variant in a large Korean population sample. The KL-VS variant was not found in 874 Korean individuals. Thus, it is not possible to test its association to aging in the East Asian populations.
       
  • Interferon lambda 4 (IFNL4) gene polymorphism is associated with
           spontaneous clearance of HCV in HIV-1 positive patients

    • Abstract: Abstract Approximately one-third of the individuals infected with human immunodeficiency virus type 1 (HIV-1) are co-infected with hepatitis C virus (HCV). Co-infected patients have an increased risk for developing end-stage liver diseases. Variants upstream of the IFNL3 gene have been associated with spontaneous and treatment-induced clearance of HCV infection. Recently, a novel polymorphism was discovered, denoted IFNL4 ΔG > TT (rs368234815), which seems to be a better predictor of spontaneous clearance than the IFNL4 rs12979860 polymorphism. We aimed to determine the prevalence of the IFNL4 ΔG > TT variants and to evaluate the association with spontaneous clearance of HCV infection in Brazilian HIV-1 patients. The IFNL4 ΔG > TT genotypes were analyzed by polymerase chain reaction followed by restriction digestion in 138 HIV-1 positive patients who had an anti-HCV positive result. Spontaneous clearance of HCV was observed in 34 individuals (24.6%). IFNL4 genotype distribution was significantly different between individuals who had spontaneous clearance and chronic HCV patients (p=0.002). The probability of spontaneous clearance of HCV infection for patients with the IFNL4 TT/TT genotype was 3.6 times higher than for patients carrying the IFNL4 ΔG allele (OR=3.63, 95% CI:1.51-8.89, p=0.001). The IFNL4 ΔG > TT polymorphism seems to be better than IFNL4 rs12979860 to predict spontaneous clearance of the HCV in Brazilian HIV-1 positive patients.
       
  • Development of a rapid phenotypic test for HCV protease inhibitors with
           potential use in clinical decisions

    • Abstract: Abstract Approximately 185 million people worldwide are chronically infected with hepatitis C virus (HCV). The first-wave of approved NS3 protease inhibitors (PIs) were Telaprevir and Boceprevir, which are currently discontinued. Simeprevir is a second-wave PI incorporated into the Brazilian hepatitis C treatment protocol. Drug resistance plays a key role in patients' treatment regimen. Here, we developed a simple phenotypic assay to evaluate the impact of resistance mutations in HCV NS3 protease to PIs, using a protein expression vector containing wild type NS3 protease domain and NS4A co-factor. We analyzed the impact of five resistance mutations (T54A, V36M, V158I, V170I and T54S+V170I) against Telaprevir, Boceprevir and Simeprevir. Protein purifications were performed with low cost methodology, and enzymatic inhibition assays were measured by FRET. We obtained recombinant proteases with detectable activity, and IC50 and fold change values for the evaluated PIs were determined. The variant T54A showed the highest reduction of susceptibility for the PIs, while the other four variants exhibited lower levels of reduced susceptibility. Interestingly, V170I showed 3.2-fold change for Simeprevir, a new evidence about this variant. These results emphasize the importance of enzymatic assays in phenotypic tests to determine which therapeutic regimen should be implemented.
       
  • Fast detection of deletion breakpoints using quantitative PCR

    • Abstract: Abstract The routine detection of large and medium copy number variants (CNVs) is well established. Hemizygotic deletions or duplications in the large Duchenne muscular dystrophy DMD gene responsible for Duchenne and Becker muscular dystrophies are routinely identified using multiple ligation probe amplification and array-based comparative genomic hybridization. These methods only map deleted or duplicated exons, without providing the exact location of breakpoints. Commonly used methods for the detection of CNV breakpoints include long-range PCR and primer walking, their success being limited by the deletion size, GC content and presence of DNA repeats. Here, we present a strategy for detecting the breakpoints of medium and large CNVs regardless of their size. The hemizygous deletion of exons 45-50 in the DMD gene and the large autosomal heterozygous PARK2 deletion were used to demonstrate the workflow that relies on real-time quantitative PCR to narrow down the deletion region and Sanger sequencing for breakpoint confirmation. The strategy is fast, reliable and cost-efficient, making it amenable to widespread use in genetic laboratories.
       
  • The association of very low-density lipoprotein receptor (VLDLR)
           haplotypes with egg production indicates VLDLR is a candidate gene for
           modulating egg production

    • Abstract: Abstract The very low-density lipoprotein receptor (VLDLR) transports egg yolk precursors into oocytes. However, our knowledge of the distribution patterns of VLDLR variants among breeds and their relationship to egg production is still incomplete. In this study, eight single nucleotide polymorphisms (SNPs) that account for 87% of all VLDLR variants were genotyped in Nick Chick (NC, n=91), Lohmann Brown (LohB, n=50) and Lueyang (LY, n=381) chickens, the latter being an Chinese indigenous breed. Egg production by NC and LY chickens was recorded from 17 to 50 weeks. Only four similar haplotypes were found in NC and LohB, of which two accounted for 100% of all NC haplotypes and 92.5% of LohB haplotypes. In contrast, there was considerable haplotypic diversity in LY. Comparison of egg production in LY showed that hens with NC-like haplotypes had a significantly higher production (p < 0.05) than those without the haplotypes. However, VLDLR expression was not significantly different between the haplotypes. These findings indicate a divergence in the distribution of VLDLR haplotypes between selected and non-selected breeds and suggest that the near fixation of VLDLR variants in NC and LohB is compatible with signature of selection. These data also support VLDLR as a candidate gene for modulating egg production.
       
  • Molecular and biochemical characterization of carbonic anhydrases of
           Paracoccidioides

    • Abstract: Abstract Carbonic anhydrases (CA) belong to the family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide to bicarbonate. In the present work, we characterized the cDNAs of four Paracoccidioides CAs (CA1, CA2, CA3, and CA4). In the presence of CO2, there was not a significant increase in fungal ca1, ca2 and ca4 gene expression. The ca1 transcript was induced during the mycelium-to-yeast transition, while ca2 and ca4 gene expression was much higher in yeast cells, when compared to mycelium and mycelium-to-yeast transition. The ca1 transcript was induced in yeast cells recovered directly from liver and spleen of infected mice, while transcripts for ca2 and ca4 were down-regulated. Recombinant CA1 (rCA1) and CA4 (rCA4), with 33 kDa and 32 kDa respectively, were obtained from bacteria. The enzymes rCA1 (β-class) and rCA4 (α-class) were characterized regarding pH, temperature, ions and amino acids addition influence. Both enzymes were stable at pHs 7.5-8.5 and temperatures of 30-35 °C. The enzymes were dramatically inhibited by Hg+2 and activated by Zn+2, while only rCA4 was stimulated by Fe2+. Among the amino acids tested (all in L configuration), arginine, lysine, tryptophan and histidine enhanced residual activity of rCA1 and rCA4.
       
  • The catalase gene family in cucumber: genome-wide identification
           and organization

    • Abstract: Abstract Catalase (CAT) is a common antioxidant enzyme in almost all living organisms. Currently, detailed reports on cucumber (Cucumis sativus L.) CAT (CsCAT) genes and tissue expression profiling are limited. In the present study, four candidate CsCAT genes were identified in cucumber. Phylogenetic analysis indicated that CsCAT1-CsCAT3 are closely related to Arabidopsis AtCAT1-AtCAT3, but no obvious counterpart was observed for CsCAT4. Intron/exon structure analysis revealed that only one of the 15 positions was completely conserved. Motif analysis showed that, unlike the CAT genes of other species, none of CsCAT genes contained all 10 motifs. Expression data showed that transcripts of all of the CsCAT genes, except CsCAT4, were detected in five tissues. Moreover, their transcription levels displayed differences under different stress treatments.
       
  • Genome-wide association study of drought-related resistance traits in
           Aegilops tauschii

    • Abstract: Abstract The D-genome progenitor of wheat (Triticum aestivum), Aegilops tauschii, possesses numerous genes for resistance to abiotic stresses, including drought. Therefore, information on the genetic architecture of A. tauschii can aid the development of drought-resistant wheat varieties. Here, we evaluated 13 traits in 373 A. tauschii accessions grown under normal and polyethylene glycol-simulated drought stress conditions and performed a genome-wide association study using 7,185 single nucleotide polymorphism (SNP) markers. We identified 208 and 28 SNPs associated with all traits using the general linear model and mixed linear model, respectively, while both models detected 25 significant SNPs with genome-wide distribution. Public database searches revealed several candidate/flanking genes related to drought resistance that were grouped into three categories according to the type of encoded protein (enzyme, storage protein, and drought-induced protein). This study provided essential information for SNPs and genes related to drought resistance in A. tauschii and wheat, and represents a foundation for breeding drought-resistant wheat cultivars using marker-assisted selection.
       
  • Comparative genomics of an endophytic Pseudomonas putida isolated
           from mango orchard

    • Abstract: Abstract We analyzed the genome sequence of an endophytic bacterial strain Pseudomonas putida TJI51 isolated from mango bark tissues. Next generation DNA sequencing and short read de novo assembly generated the 5,805,096 bp draft genome of P. putida TJI51. Out of 6,036 protein coding genes in P. putida TJI51 sequences, 4,367 (72%) were annotated with functional specifications, while the remaining encoded hypothetical proteins. Comparative genome sequence analysis revealed that the P. putida TJI51genome contains several regions, not identified in so far sequenced P. putida genomes. Some of these regions were predicted to encode enzymes, including acetylornithine deacetylase, betaine aldehyde dehydrogenase, aldehyde dehydrogenase, benzoylformate decarboxylase, hydroxyacylglutathione hydrolase, and uroporphyrinogen decarboxylase. The genome of P. putida TJI51 contained three nonribosomal peptide synthetase gene clusters. Genome sequence analysis of P. putidaTJI51 identified this bacterium as an endophytic resident. The endophytic fitness might be linked with alginate, which facilitates bacterial colonization in plant tissues. Genome sequence analysis shed light on the presence of a diverse spectrum of metabolic activities and adaptation of this isolate to various niches.
       
  • The effect of magnesium on mitotic spindle formation in
           Schizosaccharomyces pombe

    • Abstract: Abstract Magnesium (Mg2+), an essential ion for cells and biological systems, is involved in a variety of cellular processes, including the formation and breakdown of microtubules. The results of a previous investigation suggested that as cells grow the intracellular Mg2+ concentration falls, thereby stimulating formation of the mitotic spindle. In the present work, we used a Mg2+-deficient Schizosaccharomyces pombe strain GA2, in which two essential membrane Mg2+ transporter genes (homologs of ALR1 and ALR2 in Saccharomyces cerevisae) were deleted, and its parental strain Sp292, to examine the extent to which low Mg2+ concentrations can affect mitotic spindle formation. The two S. pombe strains were transformed with a plasmid carrying a GFP-α2-tubulin construct to fluorescently label microtubules. Using the free Mg2+-specific fluorescent probe mag-fura-2, we confirmed that intracellular free Mg2+ levels were lower in GA2 than in the parental strain. Defects in interphase microtubule organization, a lower percentage of mitotic spindle formation and a reduced mitotic index were also observed in the GA2 strain. Although there was interphase microtubule polymerization, the lower level of mitotic spindle formation in the Mg2+-deficient strain suggested a greater requirement for Mg2+ in this phenomenon than previously thought.
       
  • Methylation of the Sox9 and Oct4 promoters and its correlation with gene
           expression during testicular development in the laboratory mouse

    • Abstract: Abstract Sox9 and Oct4 are two important regulatory factors involved in mammalian development. Sox9, a member of the group E Sox transcription factor family, has a crucial role in the development of the genitourinary system, while Oct4, commonly known as octamer binding transcription factor 4, belongs to class V of the transcription family. The expression of these two proteins exhibits a dynamic pattern with regard to their expression sites and levels. The aim of this study was to investigate the role of de novo methylation in the regulation of the tissue- and site-specific expression of these proteins. The dynamics of the de novo methylation of 15 CpGs and six CpGs in Sox9 and Oct4 respectively, was studied with sodium bisulfite genomic DNA sequencing in mouse testis at different developmental stages. Consistent methylation of three CpGs was observed in adult ovary in which the expression of Sox9 was feeble, while the level of methylation in somatic tissue was greater in Oct4 compared to germinal tissue. The promoter-chromatin status of Sox9 was also studied with a chromatin immune-precipitation assay.
       
  • Molecular assessment of the phylogeny and biogeography of a recently
           diversified endemic group of South American canids (Mammalia: Carnivora:
           Canidae)

    • Abstract: Abstract To investigate the evolution and biogeography of an endemic group of South American foxes, we examined mitochondrial DNA control region sequences for 118 individuals belonging to all six extant species of the genus Lycalopex. Phylogenetic and molecular dating analyses supported the inference that this genus has undergone a very recent and rapid radiation, stemming from a common ancestor that lived ca. 1 million years ago. The Brazilian endemic L. vetulus was supported as the most basal species in this genus, whereas the most internal group is comprised by the recently diverged (ca. 350,000 years ago) Andean/Patagonian species L. griseus and L. culpaeus. We discuss the inferred phylogenetic relationships and divergence times in the context of the current geographic distributions of these species, and the likely effects of Pleistocene climatic changes on the biogeography of this group. Furthermore, a remarkable finding was the identification of multiple individuals classified as L. gymnocercus bearing mtDNA haplotypes clearly belonging to L. griseus, sampled in regions where the latter is not known to occur. At a minimum, this result implies the need to clarify the present-day geographic distribution of each of these fox species, while it may also indicate an ongoing hybridization process between them. Future testing of this hypothesis with in-depth analyses of these populations is thus a priority for understanding the history, evolutionary dynamics and present-day composition of this endemic Neotropical genus.
       
  • DNA damage protective effect of honey-sweetened cashew apple nectar in
           Drosophila melanogaster

    • Abstract: Abstract Fruits and derivatives, such as juices, are complex mixtures of chemicals, some of which may have mutagenic and/or carcinogenic potential, while others may have antimutagenic and/or anticancer activities. The modulating effects of honey-sweetened cashew apple nectar (HSCAN), on somatic mutation and recombination induced by ethyl methanesulfonate (EMS) and mitomycin C (MMC) were evaluated with the wing spot test in Drosophila melanogaster using co- and post-treatment protocols. Additionally, the antimutagenic activity of two HSCAN components, cashew apple pulp and honey, in MMC-induced DNA damage was also investigated. HSCAN reduced the mutagenic activity of both EMS and MMC in the co-treatment protocol, but had a co-mutagenic effect when post-administered. Similar results were also observed with honey on MMC mutagenic activity. Cashew apple pulp was effective in exerting protective or enhancing effects on the MMC mutagenicity, depending on the administration protocol and concentration used. Overall, these results indicate that HSCAN, cashew apple and honey seem capable of modulating not only the events that precede the induced DNA damages, but also the Drosophila DNA repair processes involved in the correction of EMS and MMC-induced damages.
       
  • Evidence of ectopic recombination and a repeat-induced point (RIP)
           mutation in the genome of Sclerotinia sclerotiorum, the agent responsible
           for white mold

    • Abstract: Abstract Two retrotransposons from the superfamilies Copia and Gypsy named as Copia-LTR_SS and Gypsy-LTR_SS, respectively, were identified in the genomic bank of Sclerotinia sclerotiorum. These transposable elements (TEs) contained direct and preserved long terminal repeats (LTR). Domains related to codified regions for gag protein, integrase, reverse transcriptase and RNAse H were identified in Copia-LTR_SS, whereas in Gypsy-LTR_SS only domains for gag, reverse transcriptase and RNAse H were found. The abundance of identified LTR-Solo suggested possible genetic recombination events in the S. sclerotiorum genome. Furthermore, alignment of the sequences for LTR elements from each superfamily suggested the presence of a RIP (repeat-induced point mutation) silencing mechanism that may directly affect the evolution of this species.
       
  • Molecular evidence of two cryptic species of Stramonita (Mollusca,
           Muricidae) in the southeastern Atlantic coast of Brazil

    • Abstract: Abstract Snails of the genus Stramonita are commonly found in the rocky intertidal habitat of the western Atlantic Ocean coast. They belong to a monophyletic taxon that occurs along the tropical and warm-temperate Atlantic and eastern Pacific rocky shores. This genus comprises different valid species and members of the S. haemastoma complex. In the present study, samples of Stramonita were collected from three different regions of southeastern Brazil. Partial sequences of two mitochondrial genes, COI and 16S rRNA, were used to compare nucleotides sequences between Stramonita specimens. Levels of nucleotide divergence greater than 2% across the three sampled regions were used for differentiation at the species level. One of the identified species was S. brasiliensis, which has recently been described by molecular analysis; the other species may represent S. haemastoma, not yet described in the southeastern Brazilian coast.
       
  • Microsatellite markers: what they mean and why they are so useful

    • Abstract: Abstract Microsatellites or Single Sequence Repeats (SSRs) are extensively employed in plant genetics studies, using both low and high throughput genotyping approaches. Motivated by the importance of these sequences over the last decades this review aims to address some theoretical aspects of SSRs, including definition, characterization and biological function. The methodologies for the development of SSR loci, genotyping and their applications as molecular markers are also reviewed. Finally, two data surveys are presented. The first was conducted using the main database of Web of Science, prospecting for articles published over the period from 2010 to 2015, resulting in approximately 930 records. The second survey was focused on papers that aimed at SSR marker development, published in the American Journal of Botany's Primer Notes and Protocols in Plant Sciences (over 2013 up to 2015), resulting in a total of 87 publications. This scenario confirms the current relevance of SSRs and indicates their continuous utilization in plant science.
       
  • Plant senescence and proteolysis: two processes with one destiny

    • Abstract: Abstract Senescence-associated proteolysis in plants is a complex and controlled process, essential for mobilization of nutrients from old or stressed tissues, mainly leaves, to growing or sink organs. Protein breakdown in senescing leaves involves many plastidial and nuclear proteases, regulators, different subcellular locations and dynamic protein traffic to ensure the complete transformation of proteins of high molecular weight into transportable and useful hydrolysed products. Protease activities are strictly regulated by specific inhibitors and through the activation of zymogens to develop their proteolytic activity at the right place and at the proper time. All these events associated with senescence have deep effects on the relocation of nutrients and as a consequence, on grain quality and crop yield. Thus, it can be considered that nutrient recycling is the common destiny of two processes, plant senescence and, proteolysis. This review article covers the most recent findings about leaf senescence features mediated by abiotic and biotic stresses as well as the participants and steps required in this physiological process, paying special attention to C1A cysteine proteases, their specific inhibitors, known as cystatins, and their potential targets, particularly the chloroplastic proteins as source for nitrogen recycling.
       
  • Neuromuscular disorders: genes, genetic counseling and therapeutic trials

    • Abstract: Abstract Neuromuscular disorders (NMD) are a heterogeneous group of genetic conditions, with autosomal dominant, recessive, or X-linked inheritance. They are characterized by progressive muscle degeneration and weakness. Here, we are presenting our major contributions to the field during the past 30 years. We have mapped and identified several novel genes responsible for NMD. Genotype-phenotype correlations studies enhanced our comprehension on the effect of gene mutations on related proteins and their impact on clinical findings. The search for modifier factors allowed the identification of a novel "protective"; variant which may have important implication on therapeutic developments. Molecular diagnosis was introduced in the 1980s and new technologies have been incorporated since then. Next generation sequencing greatly improved our capacity to identify disease-causing mutations with important benefits for research and prevention through genetic counseling of patients' families. Stem cells researches, from and for patients, have been used as tools to study human genetic diseases mechanisms and for therapies development. The clinical effect of preclinical trials in mice and canine models for muscular dystrophies are under investigation. Finally, the integration of our researches and genetic services with our post-graduation program resulted in a significant output of new geneticists, spreading out this expertise to our large country.
       
  • 1p13.2 deletion displays clinical features overlapping Noonan syndrome,
           likely related to NRAS gene haploinsufficiency

    • Abstract: Abstract Deletion-induced hemizygosity may unmask deleterious autosomal recessive variants and be a cause of the phenotypic variability observed in microdeletion syndromes. We performed complete exome sequencing (WES) analysis to examine this possibility in a patient with 1p13.2 microdeletion. Since the patient displayed clinical features suggestive of Noonan Syndrome (NS), we also used WES to rule out the presence of pathogenic variants in any of the genes associated with the different types of NS. We concluded that the clinical findings could be attributed solely to the 1p13.2 haploinsufficiency. Retrospective analysis of other nine reported patients with 1p13.2 microdeletions showed that six of them also presented some characteristics of NS. In all these cases, the deleted segment included the NRAS gene. Gain-of-function mutations of NRAS gene are causally related to NS type 6. Thus, it is conceivable that NRAS haploinsufficiency and gain-of-function mutations may have similar clinical consequences. The same phenomenon has been described for two other genes belonging to the Ras/MAPK pathway: MAP2K2 and SHOC2. In conclusion, we here report genotype-phenotype correlations in patients with chromosome 1p13.2 microdeletions and we propose that NRAS may be a critical gene for the NS characteristics in the patients.
       
 
 
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