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Publisher: SciELO   (Total: 711 journals)

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Showing 401 - 600 of 711 Journals sorted alphabetically
Psychology in Society     Open Access   (Followers: 2)
Psykhe (Santiago)     Open Access   (SJR: 0.194, h-index: 8)
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: 2)
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   (Followers: 1, 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: 2)
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   (Followers: 1, 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 Zootecnia     Open Access   (Followers: 2, SJR: 0.436, h-index: 39)
Revista CEFAC     Open Access  
Revista Centro Azúcar     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   (Followers: 1, 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 Antropologia     Open Access   (Followers: 2, SJR: 0.113, h-index: 2)
Revista Colombiana de Biotecnología     Open Access   (Followers: 1)
Revista Colombiana de Educación     Open Access  
Revista Colombiana de Entomología     Open Access   (Followers: 1, 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   (Followers: 1, 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: 5)
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 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   (Followers: 1, 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   (Followers: 1)
Revista Facultad de Ingeniería Universidad de Antioquia     Open Access   (Followers: 1, SJR: 0.133, h-index: 5)
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  [711 journals]
  • GSTT1 and GSTM1 null variants in Mestizo and Amerindian populations from
           northwestern Mexico and a literature review

    • Abstract: The GSTT1 and GSTM1 genes are key molecules in cellular detoxification. Null variants in these genes are associated with increase susceptibility to developing different types of cancers. The aim of this study was to determine the prevalence of GSTT1 and GSTM1 null genotypes in Mestizo and Amerindian individuals from the Northwestern region of Mexico, and to compare them with those reported worldwide. GSTT1 and GSTM1 null variants were genotyped by multiplex PCR in 211 Mestizos and 211 Amerindian individuals. Studies reporting on frequency of GSTT1 and GSTM1 null variants worldwide were identified by a PubMed search and their geographic distribution were analyzed. We found no significant differences in the frequency of the null genotype for GSTT1 and GSM1 genes between Mestizo and Amerindian individuals. Worldwide frequencies of the GSTT1 and GSTM1 null genotypes ranges from 0.10 to 0.51, and from 0.11 to 0.67, respectively. Interestingly, in most countries the frequency of the GSTT1 null genotype is common or frequent (76%), whereas the frequency of the GSMT1 null genotype is very frequent or extremely frequent (86%). Thus, ethnic-dependent differences in the prevalence of GSTT1 and GSTM1 null variants may influence the effect of environmental carcinogens in cancer risk.
       
  • Adiponectin promoter polymorphisms are predictors of lipid profile
           improvement after bariatric surgery

    • Abstract: Our aim was to investigate if single nucleotide polymorphisms (SNPs) located in the 5′ regions of leptin (LEP, -2548 G > A, rs7799039), resistin (RETN, -420 C > G, rs1862513) and adiponectin (ADIPOQ, -11391 G > A, rs17300539 and -11377 C > G, rs266729) genes were related to changes in body mass index (BMI) and metabolic variables after bariatric surgery in 60 extremely obese individuals. At baseline, ADIPOQ -11391 A-allele carriers showed higher plasma adiponectin and lower total cholesterol levels when compared to G/G homozygotes. Approximately 32 months post-surgery, a mean reduction of 35% in BMI and an important improvement in metabolic profiles were observed. In addition, for the ADIPOQ -11377 polymorphism, a higher decrease in lipid profile was associated to the C/C genotype. Moreover, individuals bearing the A-C haplotype for the two ADIPOQ SNPs were more prone to show a reduction in low-density lipoprotein levels after bariatric surgery (-43.0% A-C carriers vs. -18.1% G-G carriers, p = 0.019). We did not find any association of leptin and resistin SNPs with the clinical parameters analyzed. In summary, our results indicate that the A-C haplotype is a predictor of better lipid profile post-surgery and the studied SNPs in ADIPOQ gene are associated to changes in metabolic variables in obese individuals.
       
  • Association of polymorphisms in the heparanase gene (HPSE) with
           hepatocellular carcinoma in Chinese populations

    • Abstract: Heparanase activity is involved in cancer growth and development in humans and single nucleotide polymorphisms (SNPs) in the heparanase gene (HPSE) have been shown to be associated with tumors. In this study, we investigated whether SNPs in HPSE were a risk factor for hepatocellular carcinoma (HCC) by undertaking a comprehensive haplotype-tagging, case-control study. For this, six haplotype-tagging SNPs (htSNPs) in HPSE were genotyped in 400 HCC patients and 480 controls by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. A log-additive model revealed significant correlations between the HPSE polymorphisms rs12331678 and rs12503843 and the risk of HCC in the overall samples (p = 0.0046 and p = 0.0055). When the analysis was stratified based on hepatitis B virus (HBV) carrier status, significant interactions between rs12331678 and rs12503843 and HBV were observed. Conditional logistic regression analysis for the independent effect of one significant SNP suggested that rs12331678 or rs12503843 contributed an independent effect to the significant association with the risk of HCC, respectively. Our findings suggest that the SNPs rs12331678 and rs12503843 are HCC risk factors, although the potential functional roles of these two SNPs remain to be fully elucidated.
       
  • Relationship between XPD, RAD51, and APEX1 DNA repair genotypes and
           prostate cancer risk in the male population of Rio de Janeiro, Brazil

    • Abstract: Susceptibility to cancer ensues in individuals carrying malfunctioning DNA repair mechanisms. The impact of Single Nucleotide Polymorphisms (SNPs) in key DNA repair mechanisms on risk for prostate cancer was investigated in this case-control study. Samples consisted of 110 patients with confirmed prostate cancer and 200 unaffected men, from Rio de Janeiro, Brazil. XPD/Lys751Gln (rs13181), APEX1/Asp148Glu (rs1130409), and RAD51/G135C (rs1801320) SNPs were analyzed by PCR-RFLP. Allelic and genotypic frequencies were calculated and compared by Chi-Square test. The association between SNPs and clinical/epidemiological data was considered significant by Odds Ratio analysis, with IC95% and a p-value≤0.05. Only the XPD/Lys751Gln SNP significantly increased susceptibility to disease in southeastern Brazilian men, with p≤0.001 [OR=2.36 (1.46-3.84)], with no association with APEX1 or RAD51 SNPs. Combined XPD+RAD51 SNPs were highly associated with the disease, p≤0.005 [OR=3.40 (1.32-9.20)]. A Chi-Square significant association between XPD/Lys751Gln and Gleason score was also observed (OR=9.31; IC95%=1.19–428.0; p=0.022). Epidemiological inquiries revealed that exposure to pesticides significantly impacted the risk for prostate cancer in this population. DNA repair dysfunctions seem to prevail among workers exposed to chemical byproducts to cancer in this specific tissue. Non-invasive genotyping SNPs may help assessment of prostate cancer risk in environmentally exposed populations.
       
  • Identification of a novel mutation in ARSA gene in three patients of an
           Iranian family with metachromatic leukodystrophy disorder

    • Abstract: Metachromatic leukodystrophy disorder (MLD) is an autosomal recessive and lysosomal storage disease. The disease is caused by the deficiency of the enzyme arylsulfatase A (ARSA) which is encoded by the ARSA gene. Different mutations have been reported in different populations. The present study was aimed to detect the mutation type of the ARSA gene in three relative Iranian patients. We found a novel homozygous missense mutation c.1070 G > T (p.Gly357Val) in exon 6 of these patients. The mutation was found to be reported for the first time in MLD patients. The data can update the mutation profile and contribute toward improved clinical management and counseling of MLD patients.
       
  • A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta
           born to consanguineous parents

    • Abstract: Osteogenesis imperfecta (OI) is genetically heterogeneous. Mutations in COL1A1 and COL1A2 are responsible for at least 90% of the cases, which are transmitted in an autosomal dominant manner or are de novo events. We identified a Thai boy with OI whose parents were first cousins. Because the proband was the product of a consanguineous marriage, we hypothesized that he might be homozygous for a mutation in a known gene causing a recessive form of OI. Using whole exome sequencing (WES), we did not find any pathogenic mutations in any known gene responsible for an autosomal recessive form of OI. Instead, we identified a COL1A1 frameshift mutation, c.1290delG (p.Gly431Valfs*110) in heterozygosis. By Sanger sequencing, the mutation was confirmed in the proband, and not detected in his parents, indicating that it was a de novo mutation. These findings had implication for genetic counseling. In conclusion, we expanded the mutational spectrum of COL1A1 and provided another example of a de novo pathogenic mutation in heterozygosis in a patient born to consanguineous parents.
       
  • Rare α0-thalassemia deletions detected by MLPA in five
           unrelated Brazilian patients

    • Abstract: Alpha-thalassemias are among the most common genetic diseases in the world. They are characterized by hypochromic and microcytic anemia and great clinical variability, ranging from a practically asymptomatic phenotype to severe anemia, which can lead to intrauterine or early neonatal death. Deletions affecting the α-globin genes, located on chromosome 16p13.3, are the main causes of α-thalassemia. Multiplex ligation-dependent probe amplification (MLPA) can be used to detect rearrangements that cause α-thalassemia, particularly large deletions involving the whole α cluster and/or deletions in the HS-40 region. Here, MLPA was used to investigate the molecular basis of α-thalassemia in five unrelated patients, three of whom had Hb H disease. In addition to the -α3.7 deletion identified in the patients with Hb H disease, four different α0 deletions removing 15 to 225 kb DNA segments were found: two of them remove both the α genes, one affects only the regulatory element (HS-40) region, and another one extends over the entire α cluster and the HS-40 region. These results illustrate the diversity of α-thalassemia deletions in the Brazilian population and highlight the importance of molecular investigation in cases that present with microcytosis and hypochromia without iron deficiency and normal or reduced Hb A2 levels..
       
  • Genetic diversity of the pampas deer (Ozotoceros bezoarticus) population
           in the Brazilian Pantanal assessed by combining fresh fecal DNA analysis
           and a set of heterologous microsatellite loci

    • Abstract: The pampas deer (Ozotoceros bezoarticus) is close to being classified as ‘globally threatened’, with the largest population occurring in the Brazilian Pantanal. Since capture is stressful to these animals, non-invasive sampling methods such as the use of feces can provide reliable sources of DNA. The aim of this study was to use fecal samples to evaluate the genetic variability of the Brazilian Pantanal population of pampas deer. Six heterologous microsatellite markers were used to screen 142 stool specimens. Seventy-four deer were identified, of which 50 adults were used to determine the genetic characteristics of the population. The Pantanal population showed high genetic diversity (mean number of alleles per locus = 11.5, expected heterozygosity = 0.75). This is the first investigation to characterize a South American deer species using fecal DNA and demonstrates the usefulness and efficiency of this approach, as well as the feasibility of obtaining information that could not have been easily obtained by traditional DNA sampling. Our findings suggest that management strategies for this species may be much more effective if applied now when the population still shows high genetic variability.
       
  • Identification of genes related to high royal jelly production in the
           honey bee (Apis mellifera) using microarray analysis

    • Abstract: China is the largest royal jelly producer and exporter in the world, and high royal jelly-yielding strains have been bred in the country for approximately three decades. However, information on the molecular mechanism underlying high royal jelly production is scarce. Here, a cDNA microarray was used to screen and identify differentially expressed genes (DEGs) to obtain an overview on the changes in gene expression levels between high and low royal jelly producing bees. We developed a honey bee gene chip that covered 11,689 genes, and this chip was hybridised with cDNA generated from RNA isolated from heads of nursing bees. A total of 369 DEGs were identified between high and low royal jelly producing bees. Amongst these DEGs, 201 (54.47%) genes were up-regulated, whereas 168 (45.53%) were down-regulated in high royal jelly-yielding bees. Gene ontology (GO) analyses showed that they are mainly involved in four key biological processes, and pathway analyses revealed that they belong to a total of 46 biological pathways. These results provide a genetic basis for further studies on the molecular mechanisms involved in high royal jelly production.
       
  • Multiple genes contribute to anhydrobiosis (tolerance to extreme
           desiccation) in the nematode Panagrolaimus superbus

    • Abstract: The molecular basis of anhydrobiosis, the state of suspended animation entered by some species during extreme desiccation, is still poorly understood despite a number of transcriptome and proteome studies. We therefore conducted functional screening by RNA interference (RNAi) for genes involved in anhydrobiosis in the holo-anhydrobiotic nematode Panagrolaimus superbus. A new method of survival analysis, based on staining, and proof-of-principle RNAi experiments confirmed a role for genes involved in oxidative stress tolerance, while a novel medium-scale RNAi workflow identified a further 40 anhydrobiosis-associated genes, including several involved in proteostasis, DNA repair and signal transduction pathways. This suggests that multiple genes contribute to anhydrobiosis in P. superbus.
       
  • Description of the karyotypes of Stejneger's beaked whale (Mesoplodon
           stejnegeri) and Hubbs’ beaked whale (M. carlhubbsi)

    • Abstract: The genus Mesoplodon (Cetacea: Odontoceti: Ziphiidae) is one of the few cetacean genera with the karyotype 2n = 42. The 2n = 42 karyotype of M. europaeus and M. carlhubbsi is largely consistent with the general cetacean karyotype 2n = 44, although other 2n = 42 karyotypes do not exhibit clear homologies with the general cetacean karyotype. Therefore, the chromosomes of Mesoplodon species may be the key to understanding cetacean karyological evolution. In the present study, the male karyotypes of M. stejnegeri and M. carlhubbsi were examined. In both species, the diploid number of the male karyotype was 42. Both species had the following characteristics: 1) a huge subtelocentric X chromosome with a large C-block; 2) a small metacentric Y chromosome; 3) nucleolus organizer regions (NORs) in the terminal regions of a large autosome and one or two small metacentric autosomes; 4) small metacentric autosomes; 5) large submetacentric and subtelocentric autosomes; 6) less accumulated C-heterochromatin in the centromeric region; and 7) heteromorphism in C-heterochromatin accumulation between homologues. Characteristics 1 and 3 are peculiar to only the karyotypes of Mesoplodon species, whereas characteristics 4, 5, 6, and 7 are also found in the species with the general cetacean karyotype 2n = 44.
       
  • DNA sampling from eggshells and microsatellite genotyping in rare tropical
           birds: Case study on Brazilian Merganser

    • Abstract: This study shows that sampling maternal DNA from hatched and abandoned eggshells is a viable noninvasive strategy for studying the genetics of rare or endangered tropical birds, as exemplified here by the Brazilian Merganser (Mergus octosetaceus). Eighteen microsatellites were isolated from enriched libraries and nine heterologous loci from related species were tested. Seven loci were amplified successfully, with five of them being polymorphic. These loci exhibited amplicons ranging from 110 to 254 bp for 132 samples, with 60 from eggshells and 72 from blood or muscle samples. The number of alleles for M. octosetaceus ranged from one to six (mean = 3.71), which is low compared to M. merganser (1-15 alleles), a ‘least concern’ species. Genetic diversity did not differ significantly between noninvasive and invasive samples (Z(u) = 0.31, p = 0.37). Thus, noninvasive sampling, as demonstrated here with eggshells, provides an efficient means to assess genetic diversity in tropical birds without the need to capture and handle them.
       
  • Mapping QTLs for drought tolerance in a SEA 5 x AND 277 common bean cross
           with SSRs and SNP markers

    • Abstract: The common bean is characterized by high sensitivity to drought and low productivity. Breeding for drought resistance in this species involves genes of different genetic groups. In this work, we used a SEA 5 x AND 277 cross to map quantitative trait loci associated with drought tolerance in order to assess the factors that determine the magnitude of drought response in common beans. A total of 438 polymorphic markers were used to genotype the F8 mapping population. Phenotyping was done in two greenhouses, one used to simulate drought and the other to simulate irrigated conditions. Fourteen traits associated with drought tolerance were measured to identify the quantitative trait loci (QTLs). The map was constructed with 331 markers that covered all 11 chromosomes and had a total length of 1515 cM. Twenty-two QTLs were discovered for chlorophyll, leaf and stem fresh biomass, leaf biomass dry weight, leaf temperature, number of pods per plant, number of seeds per plant, seed weight, days to flowering, dry pod weight and total yield under well-watered and drought (stress) conditions. All the QTLs detected under drought conditions showed positive effects of the SEA 5 allele. This study provides a better understanding of the genetic inheritance of drought tolerance in common bean.
       
  • Transcriptome sequencing analysis of alfalfa reveals CBF genes potentially
           playing important roles in response to freezing stress

    • Abstract: Alfalfa (Medicago sativa L.) is an important perennial forage, with high nutritional value, which is widely grown in the world. Because of low freezing tolerance, its distribution and production are threatened and limited by winter weather. To understand the complex regulation mechanisms of freezing tolerance in alfalfa, we performed transcriptome sequencing analysis under cold (4 °C) and freezing (-8 °C) stresses. More than 66 million reads were generated, and we identified 5767 transcripts differentially expressed in response to cold and/or freezing stresses. These results showed that these genes were mainly classified as response to stress, transcription regulation, hormone signaling pathway, antioxidant, nodule morphogenesis, etc., implying their important roles in response to cold and freezing stresses. Furthermore, nine CBF transcripts differentially expressed were homologous to CBF genes of Mt-FTQTL6 site, conferring freezing tolerance in M. truncatula, which indicated that a genetic mechanism controlling freezing tolerance was conservative between M. truncatula and M. sativa. In summary, this transcriptome dataset highlighted the gene regulation response to cold and/or freezing stresses in alfalfa, which provides a valuable resource for future identification and functional analysis of candidate genes in determining freezing tolerance.
       
  • Comparative transcriptome profile of the leaf elongation zone of wild
           barley (Hordeum spontaneum) eibi1 mutant and its isogenic wild type

    • Abstract: The naturally occurring wild barley mutant eibi1/hvabcg31 suffers from severe water loss due to the permeable leaf cuticle. Eibi1/HvABCG31 encodes a full ATP-binding cassette (ABC) transporter, HvABCG31, playing a role in cutin deposition in the elongation zone of growing barley leaves. The eibi1 allele has pleiotropic effects on the appearance of leaves, plant stature, fertility, spike and grain size, and rate of germination. Comparative transcriptome profile of the leaf elongation zone of the eibi1 mutant as well as its isogenic wild type showed that various pathogenesis-related genes were up-regulated in the eibi1 mutant. The known cuticle-related genes that we analyzed did not show significant expression difference between the mutant and wild type. These results suggest that the pleiotropic effects may be a compensatory consequence of the activation of defense genes in the eibi1 mutation. Furthermore, we were able to find the mutation of the eibi1/hvabcg31 allele by comparing transcript sequences, which indicated that the RNA-Seq is useful not only for researches on general molecular mechanism but also for the identification of possible mutant genes.
       
  • The complete mitochondrial genome of Engyodontium album and comparative
           analyses with Ascomycota mitogenomes

    • Abstract: Engyodontium album is a widespread pathogen that causes different kinds of dermatoses and respiratory tract diseases in humans and animals. In spite of its perniciousness, the basic genetic and molecular background of this species remains poorly understood. In this study, the mitochondrial genome sequence of E. album was determined using a high-throughput sequencing platform. The circular mitogenome was found to be 28,081 nucleotides in length and comprised of 17 protein-coding genes, 24 tRNA genes, and 2 rRNA genes. The nucleotide composition of the genome was A+T-biased (74.13%). Group-II introns were found in the nad1, nad5, and cob genes. The most frequently used codon of protein-coding genes was UAU. Isoleucine was identified as the most common amino acid, while proline was the least common amino acid in protein-coding genes. The gene-arrangement order is nearly the same when compared with other Ascomycota mitogenomes. Phylogenetic relationships based on the shared protein-coding genes revealed that E. album is closely related to the Cordycipitaceae family, with a high-confidence support value (100%). The availability of the mitogenome of E. album will shed light on the molecular systematic and genetic differentiation of this species.
       
  • Expression analysis on 14-3-3 proteins in regenerative liver following
           partial hepatectomy

    • Abstract: 14-3-3 proteins play a vital part in the regulation of cell cycle and apoptosis as signaling integration points. During liver regeneration, the quiescent hepatocytes go through hypertrophy and proliferation to restore liver weight. Therefore, we speculated that 14-3-3 proteins regulate the progression of liver regeneration. In this study, we analyzed the expression patterns of 14-3-3 proteins during liver regeneration of rat to provide an insight into the regenerative mechanism using western blotting. Only four isoforms (γ, ε, σ and τ/θ) of the 14-3-3 proteins were expressed in regenerative liver after partial hepatectomy (PH). The dual effects, the significant down-regulation of 14-3-3ε and the significant up-regulation of 14-3-3τ/θ at 2 h after PH, might play particularly important roles in S-phase entry. The significant peaks of 14-3-3σ at 30 h and of ε and τ/θ at 24 h might be closely related not only to the G2/M transition but also to the size of hepatocytes. Possibly, the peak of 14-3-3ε expression seen at 168 h plays critical roles in the termination of liver regeneration by inhibiting cellular proliferation.
       
  • Biomolecular computers with multiple restriction enzymes

    • Abstract: The development of conventional, silicon-based computers has several limitations, including some related to the Heisenberg uncertainty principle and the von Neumann “bottleneck”. Biomolecular computers based on DNA and proteins are largely free of these disadvantages and, along with quantum computers, are reasonable alternatives to their conventional counterparts in some applications. The idea of a DNA computer proposed by Ehud Shapiro’s group at the Weizmann Institute of Science was developed using one restriction enzyme as hardware and DNA fragments (the transition molecules) as software and input/output signals. This computer represented a two-state two-symbol finite automaton that was subsequently extended by using two restriction enzymes. In this paper, we propose the idea of a multistate biomolecular computer with multiple commercially available restriction enzymes as hardware. Additionally, an algorithmic method for the construction of transition molecules in the DNA computer based on the use of multiple restriction enzymes is presented. We use this method to construct multistate, biomolecular, nondeterministic finite automata with four commercially available restriction enzymes as hardware. We also describe an experimental applicaton of this theoretical model to a biomolecular finite automaton made of four endonucleases.
       
  • 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 few studies focusing on its molecular biology and genetic characterization. We herein report the complete chloroplast (cp) genome of P. trunciflora using high-throughput sequencing and compare it to other previously sequenced Myrtaceae genomes. The cp genome of P. trunciflora is 159,512 bp in size, comprising inverted repeats of 26,414 bp and single-copy regions of 88,097 bp (LSC) and 18,587 bp (SSC). The genome contains 111 single-copy genes (77 protein-coding, 30 tRNA and four rRNA genes). Phylogenetic analysis using 57 cp protein-coding genes demonstrated that P. trunciflora, Eugenia uniflora and Acca sellowiana form a cluster with closer relationship to Syzygium cumini than with Eucalyptus. The complete cp sequence reported here can be used in evolutionary and population genetics studies, contributing to resolve the complex taxonomy of this species and fill the gap in genetic characterization.
       
 
 
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