Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient.

abstract：:Sickle cell anemia is a genetic disease with high prevalence in people of African descent. There are five typical haplotypes associated with this disease and the haplotypes associated with the beta-globin gene cluster have been used to establish the origin of African-descendant people in America. In this work, we dete...

journal_title：Genetics and molecular biology

authors： Fong C,Lizarralde-Iragorri MA,Rojas-Gallardo D,Barreto G

更新日期：2013-12-01 00:00:00

abstract：:Vitamin D exerts an immuno-modulatory activity on several immune system cells through the vitamin D receptor (VDR). Herein, we verified that age and a therapeutic regimen containing protease inhibitors are associated with failures in antiretroviral therapies (ARVs). In addition, we assessed whether a VDR SNP (rs115688...

journal_title：Genetics and molecular biology

authors： Silva RCD,Alves NMP,Pereira JJS,Coelho AVC,Arraes LC,Brandão LAC,Crovella S,Silva JA

更新日期：2019-04-01 00:00:00

abstract：:Xylella fastidiosa genome sequencing has generated valuable data by identifying genes acting either on metabolic pathways or in associated pathogenicity and virulence. Based on available information on these genes, new strategies for studying their expression patterns, such as microarray technology, were employed. A t...

journal_title：Genetics and molecular biology

authors： Travensolo RF,Carareto-Alves LM,Costa MV,Lopes TJ,Carrilho E,Lemos EG

更新日期：2009-04-01 00:00:00

abstract：:The Serrasalmidae family is composed of a number of commercially interesting species, mainly in the Amazon region where most of these fishes occur. In the present study, we investigated the genomic organization of the 18S and 5S rDNA and telomeric sequences in mitotic chromosomes of four species from the basal clade o...

journal_title：Genetics and molecular biology

authors： Ribeiro LB,Matoso DA,Feldberg E

更新日期：2014-03-01 00:00:00

abstract：:The roots of the understorey shrub Carapichea ipecacuanha (ipecac) have medicinal properties, and the uprooting of wild plants has supplied most of the world demand for this species. Although under severe population decline, C. ipecacuanha lacks legal protection. In the wild, the aerial stems of ipecac clump together ...

journal_title：Genetics and molecular biology

authors： de Oliveira LO,Venturini BA,Rossi AA,Hastenreiter SS

更新日期：2010-01-01 00:00:00

abstract：:The antitumorigenic potential of two palladium(II) complexes, [Pd(ca(2)-o-phen)Cl(2)] - C1 and [Pd(dmba)(dppp)Cl] - C2, was evaluated, using MDA-MB-435 cells, a human breast adenocarcinoma cell-line that does not express the estrogen receptor α (ER-). Growth inhibition and induced alterations in cell-morphology were a...

journal_title：Genetics and molecular biology

authors： Campanella NC,da Silva Demartini M,Torres C,de Almeida ET,Gouvêa CM

更新日期：2012-01-01 00:00:00

abstract：:The PPARγ nuclear receptor regulates the expression of genes involved in lipid and carbohydrate metabolism, and it has protective effects in some patients with type 2 diabetes. Nevertheless, the therapeutic value of the PPARγ nuclear receptor protein is limited due to the secondary effects of some PPARγ ligands. Becau...

journal_title：Genetics and molecular biology

authors： Lizcano F,Vargas D

更新日期：2013-03-01 00:00:00

abstract：:More than 90% of birds are socially monogamous, although genetic studies indicate that many are often not sexually monogamous. In the present study, DNA fingerprinting was used to estimate the genetic relationships between nestlings belonging to the same broods to evaluate the mating system in the socially monogamous ...

journal_title：Genetics and molecular biology

authors： Caparroz R,Miyaki CY,Baker AJ

更新日期：2011-01-01 00:00:00

abstract：:In this study, we investigated the influence of two SNPs (rs846910 and rs12086634) of the HSD11B1 gene that encodes 11β-hydroxysteroid dehydrogenase type 1(11β-HSD1), the enzyme that catalyzes the conversion of cortisol to cortisone, on variables associated with obesity and metabolic syndrome in 215 individuals of bot...

journal_title：Genetics and molecular biology

authors： Turek LV,Leite N,Rodrigues Souza RL,Lima JK,Milano GE,Timossi Lda S,Osiecki AC,Osiecki R,Alle LF

更新日期：2014-09-01 00:00:00

abstract：:Seven polymorphic microsatellite loci were isolated and characterized for the snakehead murrel, Channa striata (Channidae), a valuable tropical freshwater fish species. Among 25 specimens collected from Kedah state in Malaysia, the number of alleles per locus ranged from 2 to 7. Observed and expected heterozygosities ...

journal_title：Genetics and molecular biology

authors： Jamsari AF,Min-Pau T,Siti-Azizah MN

更新日期：2011-04-01 00:00:00

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 a...

journal_title：Genetics and molecular biology

authors： Sakowski S,Krasinski T,Waldmajer J,Sarnik J,Blasiak J,Poplawski T

更新日期：2017-10-01 00:00:00

abstract：:Tsetse flies are responsible for the transmission of Trypanossoma sp. to vertebrate animals in Africa causing huge health issues and economic loss. The availability of the genome sequence of Glossina morsitans enabled the discovery of several genes related to medically important phenotypes and novel physiological feat...

journal_title：Genetics and molecular biology

authors： Freitas L,Mesquita RD,Schrago CG

更新日期：2020-06-10 00:00:00

abstract：:Diacylglycerol O-acyltransferase 1 (DGAT1) is a microsomal enzyme that catalyzes the final step of triglyceride synthesis. The DGAT1 gene is a strong functional candidate for determining milk fat content in cattle. In this work, we used PCR-SSCP (polymerase chain reaction-single-strand conformation polymorphism) and D...

journal_title：Genetics and molecular biology

authors： Raut AA,Kumar A,Kala SN,Chhokar V,Rana N,Beniwal V,Jaglan S,Samuchiwal SK,Singh JK,Mishra A

更新日期：2012-07-01 00:00:00

abstract：:Ample evidence suggests that cancer is triggered by mutagenic damage and diets or supplements capable of reducing such incidences can be related to the prevention of neoplasy development or to an improvement in life quality of patients who undergo chemotherapy. This research aimed to evaluate the antimutagenic and ant...

journal_title：Genetics and molecular biology

authors： Oliveira RJ,Salles MJ,da Silva AF,Kanno TY,Lourenço AC,Leite Vda S,Matiazi HJ,Pesarini JR,Ribeiro LR,Mantovani MS

更新日期：2013-09-01 00:00:00

abstract：:Machado-Joseph disease (MJD) is an autosomal dominant, late-onset neurological disorder and the most common form of spinocerebellar ataxia (SCA) worldwide. Diagnostic genetic testing is available to detect the disease-causing mutation by direct sizing of the CAG repeat tract in the ataxin 3 gene. Presymptomatic testin...

journal_title：Genetics and molecular biology

authors： Schuler-Faccini L,Osorio CM,Romariz F,Paneque M,Sequeiros J,Jardim LB

更新日期：2014-03-01 00:00:00

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 Cs...

journal_title：Genetics and molecular biology

authors： Hu L,Yang Y,Jiang L,Liu S

更新日期：2016-07-01 00:00:00

abstract：:The goal of this research was to investigate the linkage disequilibrium between rs9263726 and HLA-B*58:01 in different Chinese ethnic groups (Han, Tibet, and Hui) and to study the feasibility of rs9263726 replacing HLA-B*58:01 as an efficient indicator of potential allopurinol hypersensitivity syndrome. In this study,...

journal_title：Genetics and molecular biology

authors： Zhang X,Jin L,Wu Z,Ma W,Chen Y,Chen G,Wang L,Guan M

更新日期：2018-07-01 00:00:00

abstract：:Up-regulation of human endogenous retroviruses (HERVs) is associated with many diseases, including cancer. In this study, an H family HERV (HERV-H)-related gene was identified and characterized. Its spliced transcript lacks protein-coding capacity and may belong to the emerging class of noncoding RNAs (ncRNAs). The 1....

journal_title：Genetics and molecular biology

authors： Liang Q,Ding J,Zheng S

更新日期：2009-10-01 00:00:00

abstract：:Trypoxylon is a genus of solitary crabronid wasps whose population genetics is poorly known. The purpose of the present study was to investigate the genetic variation and differentiation among five populations of Trypoxylon albitarse, a species widely distributed throughout the Neotropics, with records from Panama to ...

journal_title：Genetics and molecular biology

authors： Bergamaschi AC,Lama MA

更新日期：2015-12-01 00:00:00

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...

journal_title：Genetics and molecular biology

authors： Maia TA,Vilaça ST,Silva LRD,Santos FR,Dantas GPM

更新日期：2017-10-01 00:00:00

abstract：:Cytogenetic studies in birds are still scarce compared to other vertebrates. Woodcreepers (Dendrocolaptidae) are part of a highly specialized group within the Suboscines of the New World. They are forest birds exclusive to the Neotropical region and similar to woodpeckers, at a comparable evolutionary stage. This pape...

journal_title：Genetics and molecular biology

authors： de Oliveira Barbosa M,da Silva RR,de Sena Correia VC,Dos Santos LP,Garnero Adel V,Gunski RJ

更新日期：2013-03-01 00:00:00

abstract：:Human longevity is a polygenic and multifactorial trait. Pathways related to lifespan are complex and involve molecular, cellular, and environmental processes. In this analytical observational study, we evaluated the relationship between environment factors, oxidative stress status, DNA integrity level, and the associ...

journal_title：Genetics and molecular biology

authors： Silva-Sena GG,Camporez D,Santos LRD,Silva ASD,Sagrillo Pimassoni LH,Tieppo A,Pimentel Batitucci MDC,Morelato RL,Paula F

更新日期：2018-04-01 00:00:00

abstract：:A wide array of molecular markers has been used to investigate the genetic diversity among common bean species. However, the best combination of markers for studying such diversity among common bean cultivars has yet to be determined. Few reports have examined the genetic diversity of the carioca bean, commercially on...

journal_title：Genetics and molecular biology

authors： Küpper Cardoso Perseguini JM,Chioratto AF,Zucchi MI,Colombo CA,Carbonell SA,Costa Mondego JM,Gazaffi R,Franco Garcia AA,de Campos T,de Souza AP,Rubiano LB

更新日期：2011-01-01 00:00:00

abstract：:Alpha-1-antitrypsin (AAT) plays an important role in the pathogenesis of emphysema, the pathological lesion underlying the majority of the manifestations of Chronic Obstructive Pulmonary Disease (COPD). In this study we tested the hypothesis that common AAT polymorphisms influence the risk of developing COPDs. We inve...

journal_title：Genetics and molecular biology

authors： Denden S,Khelil AH,Knani J,Lakhdar R,Perrin P,Lefranc G,Chibani JB

更新日期：2010-01-01 00:00:00

abstract：:Lupinus albescens is a resistant cover plant that establishes symbiotic relationships with bacteria belonging to the Bradyrhizobium genus. This symbiosis helps the development of these plants in adverse environmental conditions, such as the ones found in arenized areas of Southern Brazil. This work studied three Brady...

journal_title：Genetics and molecular biology

authors： Granada CE,Vargas LK,Sant'Anna FH,Balsanelli E,Baura VA,Oliveira Pedrosa F,Souza EM,Falcon T,Passaglia LMP

更新日期：2018-04-01 00:00:00

abstract：:Treatment of moderate and severe forms of osteogenesis imperfecta (OI) with cyclic pamidronate at the Reference Center for OI Treatment in Southern Brazil was studied. A retrospective cohort study was conducted from 2002 to 2012. Data were obtained during inpatient (drug infusion) and outpatient care. Clinical data, i...

journal_title：Genetics and molecular biology

authors： Pinheiro B,Zambrano MB,Vanz AP,Brizola E,Souza LT,Félix TM

更新日期：2019-01-01 00:00:00

abstract：:Meiotic and mitotic chromosomes of Dichotomius nisus, D. semisquamosus and D. sericeus were analyzed after conventional staining, C-banding and silver nitrate staining. In addition, Dichotomius nisus and D. semisquamosus chromosomes were also analyzed after fluorescent in situ hybridization (FISH) with an rDNA probe. ...

journal_title：Genetics and molecular biology

authors： da Silva GM,Bione EG,Cabral-de-Mello DC,de Moura Rde C,Simões ZL,de Souza MJ

更新日期：2009-04-01 00:00:00

abstract：:Phenotypic plasticity is a hallmark of the caste systems of social insects, expressed in their life history and morphological traits. These are best studied in bees. In their co-evolution with angiosperm plants, the females of corbiculate bees have acquired a specialized structure on their hind legs for collecting pol...

journal_title：Genetics and molecular biology

authors： Santos CG,Hartfelder K

更新日期：2015-07-01 00:00:00

abstract：:The decapod Grapsus grapsus is commonly found on oceanic islands of the Pacific and Atlantic coasts of the Americas. In this study, a simple, quick and reliable method for detecting its larvae in plankton samples is described, which makes it ideal for large-scale studies of larval dispersal patterns in the species. ...

journal_title：Genetics and molecular biology

authors： Ströher PR,Firkowski CR,Freire AS,Pie MR

更新日期：2011-07-01 00:00:00

abstract：:This study presents evidence, using sequences of ribosomal 16S and COI mtDNA, for the presence of two mitochondrial genomes in Perumytilus purpuratus. This may be considered evidence of doubly uniparental mtDNA inheritance. The presence of the two types of mitochondrial genomes differentiates females from males. The F...

journal_title：Genetics and molecular biology

authors： Vargas J,Pérez M,Toro J,Astorga MP

更新日期：2015-05-01 00:00:00