Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder.

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：: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：: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 purpose of this study was to investigate whether treatment with electroacupuncture (EA) inhibited mitochondria-dependent apoptosis in annulus fibrosis (AF) cells in a rat model of cervical intervertebral disc degradation induced by unbalanced dynamic and static forces. Forty Sprague-Dawley rats were used in this s...

journal_title：Genetics and molecular biology

authors： Liao J,Ke M,Xu T,Lin L

更新日期：2012-07-01 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：:The Morato's Digger Toad, Proceratophrys moratoi, is a critically endangered toad species with a marked population decline in southern Brazilian Cerrado. Despite this, new populations are being discovered, primarily in the northern part of the distribution range, which raises a number of questions with regard to the c...

journal_title：Genetics and molecular biology

authors： Arruda MP,Costa WP,Recco-Pimentel SM

更新日期：2017-04-01 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：:The aim of the present study was to investigate the association between HPV-DNA and micronucleus (MN) frequency in women with normal cervical cytology. A total of 158 normal cervical smears were analyzed cytologically. The HPV genome was amplified using the GP5+/bioGP6+ consensus primers. HPV-DNA of high-risk types 16...

journal_title：Genetics and molecular biology

authors： Cassel AP,Barcellos RB,da Silva CM,de Matos Almeida SE,Rossetti ML

更新日期：2014-06-01 00:00:00

abstract：:Screening of mutations that cause β-thalassaemia in the Bangladeshi population led to the identification of a patient with a combination of two rare mutations, Hb Monroe and HBB: -92 C > G. The β-thalassaemia major male individual was transfusion-dependent and had an atypical β-globin gene cluster haplotype. Of the tw...

journal_title：Genetics and molecular biology

authors： Moosa MM,Ayub MI,Bashar AE,Sarwardi G,Khan W,Khan H,Yeasmin S

更新日期：2011-07-01 00:00:00

abstract：:MicroRNAs are considered as potential biomarkers, agents, or therapeutic targets; few studies have addressed the expression of miRNAs in treatment-naïve patients infected with HIV-1. The aim of this study was to assess plasma relative circulating miRNA expression profiles in treatment-naïve Mexican patients with HIV/A...

journal_title：Genetics and molecular biology

authors： Cárdenas-Bedoya J,Marquez-Pedroza J,Morán-Moguel MC,Escoto-Delgadillo M,Vázquez-Valls E,González-Enríquez GV,Pérez-Ríos AM,Torres-Mendoza BM

更新日期：2020-06-22 00:00:00

abstract：:Rhagomys rufescens (Rodentia: Sigmodontinae) is an endemic species of the Atlantic forest from Southern and Southeastern Brazil. Some authors consider Rhagomys as part of the tribe Thomasomyini; but its phylogenetic relationships remain unclear. Chromosomal studies on eight specimens of Rhagomys rufescens revealed a d...

journal_title：Genetics and molecular biology

authors： Testoni AF,Althoff SL,Nascimento AP,Steiner-Souza F,Sbalqueiro IJ

更新日期：2010-07-01 00:00:00

abstract：:Indica and japonica are two main subspecies of Asian cultivated rice (Oryza sativa L.) that differ clearly in morphological and agronomic traits, in physiological and biochemical characteristics and in their genomic structure. However, the proteins and genes responsible for these differences remain poorly characterize...

journal_title：Genetics and molecular biology

authors： Yang Y,Zhu K,Xia H,Chen L,Chen K

更新日期：2014-10-01 00:00:00

abstract：:Population genetics studies the distributions and changes in population allele frequencies in response to processes, such as mutation, natural selection, gene flow, and genetic drift. Researchers daily manage genetic, biological, and environmental data of the samples, storing them in text files or spreadsheets, which ...

journal_title：Genetics and molecular biology

authors： Elias DE,Rueda ECR

更新日期：2020-05-29 00:00:00

abstract：:Post-translational modification of proteins by ADP-ribosylation, catalysed by poly (ADP-ribose) polymerases (PARPs) using NAD+ as a substrate, plays central roles in DNA damage signalling and repair, modulates a range of cellular signalling cascades and initiates programmed cell death by parthanatos. Here, we present ...

journal_title：Genetics and molecular biology

authors： Hoch NC,Polo LM

更新日期：2019-12-13 00:00:00

abstract：:Glucose-6-phosphate dehydrogenase deficiency (G6PDd) and Duffy-negative blood group are two red blood cells variants that confer protection against malaria. In this study, the distribution of the most common G6PD variants (G6PD*A-, GGPD*A and G6PD Mediterranean) and the major alleles of the Duffy blood group (FY*A, FY...

journal_title：Genetics and molecular biology

authors： Oliveira HSS,Silva ANLMD,Andrade GB,Gaia KC,Costa GLC,Santos ÂKCRD,Guerreiro JF

更新日期：2018-10-01 00:00:00

abstract：:Hereditary cancer risk assessment is a multidisciplinary and dynamic process, with the purpose of estimating probabilities of germline mutations in cancer susceptibility genes and assessing empiric risks of cancer based on personal and family histories, in order to offer clinical and molecular diagnoses and clinical m...

journal_title：Genetics and molecular biology

authors： Gomy I,Diz Mdel P

更新日期：2016-05-13 00:00:00

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....

journal_title：Genetics and molecular biology

authors： Qin P,Lin Y,Hu Y,Liu K,Mao S,Li Z,Wang J,Liu Y,Wei Y,Zheng Y

更新日期：2016-07-01 00:00:00

abstract：:The aim of this study was to estimate the components of variance and genetic parameters for the visual scores which constitute the Morphological Evaluation System (MES), such as body structure (S), precocity (P) and musculature (M) in Nellore beef-cattle at the weaning and yearling stages, by using threshold Bayesian ...

journal_title：Genetics and molecular biology

authors： de Faria CU,Koury W Jr,Magnabosco CU,de Albuquerque LG,Bezerra LA,Lôbo RB

更新日期：2009-10-01 00:00:00

abstract：:In the present study, water buffalo MHC (Bubu)-DRB cDNA was cloned and characterized. The 1022 base long-amplified cDNA product encompassed a single open reading frame of 801 bases that coded for 266 amino acids. The Bubu-DRB sequence showed maximum homology with the BoLA-DRB3*0101 allele of cattle. A total of seven a...

journal_title：Genetics and molecular biology

authors： Naskar S,Deb SM,Niranjan SK,Kumar S,Sharma D,Sakaram D,Sharma A

更新日期：2012-01-01 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：: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：:The allelic frequencies of 12 short tandem repeat loci were obtained from a sample of 307 unrelated individuals living in Macapá, a city in the northern Amazon region, Brazil. These loci are the most commonly used in forensics and paternity testing. Based on the allele frequency obtained for the population of Macapá, ...

journal_title：Genetics and molecular biology

authors： da Costa Francez PA,Rodrigues EM,Frazão GF,Dos Reis Borges ND,Dos Santos SE

更新日期：2011-01-01 00:00:00

abstract：:Despite their ecological and economical importance, fishes of the family Ariidae are still genetically and cytogenetically poorly studied. Among the 133 known species of ariids, only eight have been karyotyped. Cytogenetic analyses performed on Genidens barbus and Sciades herzbergii revealed that both species have 2n ...

journal_title：Genetics and molecular biology

authors： Nirchio M,Martinez ER,Foresti F,Oliveira C

更新日期：2010-04-01 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：: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：: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：: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：:Oryza sativa, the common cultivated rice, is one of the most important crops for human consumption, but production is increasingly threatened by abiotic stresses. Although many efforts have resulted in breeding rice cultivars that are relatively tolerant to their local environments, climate changes and population incr...

journal_title：Genetics and molecular biology

authors： Menguer PK,Sperotto RA,Ricachenevsky FK

更新日期：2017-01-01 00:00:00

abstract：:This review summarizes the chromosomal changes detected by molecular cytogenetic approaches in esophageal squamous cell carcinoma (ESCC), the ninth most common malignancy in the world. Whole genome analyses of ESCC cell lines and tumors indicated that the most frequent genomic gains occurred at 1, 2q, 3q, 5p, 6p, 7, 8...

journal_title：Genetics and molecular biology

authors： Bellini MF,Silva AE,Varella-Garcia M

更新日期：2010-04-01 00:00:00

abstract：:Molecular genetic research relies heavily on the ability to detect polymorphisms in DNA. Single nucleotide polymorphisms (SNPs) are the most frequent form of DNA variation in the genome. In combination with a PCR assay, the corresponding SNP can be analyzed as a derived cleaved amplified polymorphic sequence (dCAPS) m...

journal_title：Genetics and molecular biology

authors： Shahinnia F,Sayed-Tabatabaei BE

更新日期：2009-07-01 00:00:00