In deep bioinformatic characterization of a novel fumarate hydratase variant FH c.199T > G; (p.Tyr67Asp) in hereditary leiomyomatosis and renal cell carcinoma.

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare, autosomal dominant tumor predisposition syndrome characterized by variable development of multiple skin and uterus leiomyomas and aggressive forms of renal cell carcinoma (RCC). Mutations in fumarate hydratase (FH), one of the proteins in homologous recombination repair, precede the development of HLRCC with high penetrance. Considering the risk of early metastasis of RCC, FH has been included in mutation screening panels.

Phenotypic variation in milk fatty acid composition and its association with stearoyl-CoA desaturase 1 (SCD1) gene polymorphisms in Gir cows.

Individual variation in milk fatty acid (FA) composition has been partially attributed to stearoyl-CoA desaturase 1 (SCD1) gene polymorphisms in taurine breeds, but much less is known for Zebu breeds. This study investigated the phenotypic variation in milk FA composition, and the influence of SCD1 variants on this trait and on milk fat desaturase indices (DI) in Gir cows. The functional impact of SCD1 variants was predicted using bioinformatics tools.

MAOA-LPR polymorphism and math anxiety: A marker of genetic susceptibility to social influences in girls?

Math anxiety (MA) seems to result from an interaction of genetic vulnerability with negative experiences learning mathematics. Although mathematics achievement does not substantially differ between the sexes, MA levels are usually higher in girls. Molecular genetic markers of MA vulnerability have been seldom explored.

Do boys with MAOA_LPR*2R allele present cognitive and learning impairments?

Unlabelled: Monoamine oxidase A () polymorphisms have been associated with antisocial disorders. Less attention has been paid to the cognitive functioning of individuals with different alleles. No study has described the cognitive phenotype associated with the less frequent, low enzyme activity allele, MAOA_LPR*2R.

Working memory and arithmetic impairments in children with FMR1 premutation and gray zone alleles.

Unlabelled: Expansive mutations in familial mental retardation 1 () gene have been associated with different phenotypes. Full mutations are associated with intellectual disability and autism spectrum disorder; premutations are associated with math learning difficulties and working memory impairments. In gray zone, neuropsychological development has not yet been described.

NAToRA, a relatedness-pruning method to minimize the loss of dataset size in genetic and omics analyses.

Genetic and omics analyses frequently require independent observations, which is not guaranteed in real datasets. When relatedness cannot be accounted for, solutions involve removing related individuals (or observations) and, consequently, a reduction of available data. We developed a network-based relatedness-pruning method that minimizes dataset reduction while removing unwanted relationships in a dataset.

Identification and in silico characterization of structural and functional impacts of genetic variants in milk protein genes in the Zebu breeds Guzerat and Gyr.

Whole genome sequencing of bovine breeds has allowed identification of genetic variants in milk protein genes. However, functional repercussion of such variants at a molecular level has seldom been investigated. Here, the results of a multistep Bioinformatic analysis for functional characterization of recently identified genetic variants in Brazilian Gyr and Guzerat breeds is described, including predicted effects on the following: (i) evolutionary conserved nucleotide positions/regions; (ii) protein function, stability, and interactions; (iii) splicing, branching, and miRNA binding sites; (iv) promoters and transcription factor binding sites; and (v) collocation with QTL.

The quandary of diagnosing mathematical difficulties in a generally low performing population.

Unlabelled: Brazilian students' mathematical achievement was repeatedly observed to fall below average levels of mathematical attainment in international studies such as PISA.

Objective: In this article, we argue that this general low level of mathematical attainment may interfere with the diagnosis of developmental dyscalculia when a psychometric criterion is used establishing an arbitrary cut-off (e.g.

The Mini-Mental Examination for Children (MMC): Evidence of validity for children with learning difficulties.

Unlabelled: The Mini-Mental Examination for Children (MMC) is a widely used tool for assessing global cognitive deficits, however,is still unknown whether MMC is sensitive for investigating cognitive profiles associated with learning difficulties (LD).

Objective: Here we investigate the feasibility of using the MMC for screening school-aged children with learning difficulties in spelling and math.

Methods: The MMC and other neurophysiological tests were administered to a sample of 168 children, aged 7 to 12 years.

Heterosis in COMT Val158Met Polymorphism Contributes to Sex-Differences in Children's Math Anxiety.

Math anxiety (MA) is a phobic reaction to math activities, potentially impairing math achievement. Higher frequency of MA in females is explainable by the interaction between genetic and environmental factors. The molecular-genetic basis of MA has not been investigated.

Genetic variants of VWF gene in type 2 von Willebrand disease.

Introduction: von Willebrand disease (VWD) is the most common inherited bleeding disorder. Few studies have explored the molecular basis of type 2 VWD.

Aim: This study aimed to identify variants associated with type 2 VWD.

Numerical Processing Impairment in 22q11.2 (LCR22-4 to LCR22-5) Microdeletion: A Cognitive-Neuropsychological Case Study.

Although progress has been made, the cognitive, biological and, particularly, the genetic underpinnings of math learning difficulties (MD) remain largely unknown. This difficulty stems from the heterogeneity of MD and from the large contribution of environmental factors to its etiology. Understanding endophenotypes, e.

Evidence for a Role of ACTN3 R577X Polymorphism in Football Player's Career Progression.

The aim was to investigate a possible role of the ACTN3 R577X polymorphism in a Brazilian football player's career progression. 2 questions were formulated: 1. Does ACTN3 polymorphism affect the probability of an individual being a professional football player? 2.

Genetic mechanisms underlying spermatic and testicular traits within and among cattle breeds: systematic review and prioritization of GWAS results.

Reduced bull fertility imposes economic losses in bovine herds. Specifically, testicular and spermatic traits are important indicators of reproductive efficiency. Several genome-wide association studies (GWAS) have identified genomic regions associated with these fertility traits.

Three-Dimensional Cellular Arrangement in Epithelial Ovarian Cancer Cell Lines TOV-21G and SKOV-3 is Associated with Apoptosis-Related miRNA Expression Modulation.

Epithelial ovarian cancer (EOC) is the most lethal gynecological malignancy, and the lack of chemoresistance biomarkers contributes to the poor prognosis. Cancer stem cells (CSC) have been investigated in EOC to understand its relationship with chemoresistance and recurrence. In this context, in vitro cultivation-models are important tools for CSC studies.

Mini-mental state exam for children (MMC) in children with hemiplegic cerebral palsy.

Unlabelled: Cognitive impairment is frequent in cerebral palsy (CP) and there is a lack of multiprofessional screening instruments.

Objective: The aim of this study was to investigate the utility of the Mini-Mental State Examination for Children (MMC), an adapted version of the Mini-Mental State Examination, in screening for cognitive impairments in children with CP.

Methods: We assessed 397 Brazilian children, 310 with typical development and 87 with CP (hemiplegic and quadriplegic forms), aged 5-16 years.

Genetic and environmental risk factors for developmental dyslexia in children: systematic review of the last decade.

Despite advances in the characterization of developmental dyslexia (DD), several questions regarding the interplay between DD-susceptibility genes and environmental risk factors remain open. This systematic review aimed at answering the following questions: What has been the impact of new resources on the knowledge about DD? Which questions remain open? What is the investigative agenda for the short term? Forty-six studies were analyzed. Despite the growing literature on DD candidate genes, most studies have not been replicated.

Identification of Candidate Genes for Reactivity in Guzerat (Bos indicus) Cattle: A Genome-Wide Association Study.

Temperament is fundamental to animal production due to its direct influence on the animal-herdsman relationship. When compared to calm animals, the aggressive, anxious or fearful ones exhibit less weight gain, lower reproductive efficiency, decreased milk production and higher herd maintenance costs, all of which contribute to reduced profits. However, temperament is a trait that is complex and difficult to assess.

Are 22q11.2 distal deletions associated with math difficulties?

Approximately 6% of school-aged children have math difficulties (MD). A neurogenetic etiology has been suggested due to the presence of MD in some genetic syndromes such as 22q11.2DS.

Novel SNPs and INDEL polymorphisms in the 3'UTR of DGAT1 gene: in silico analyses and a possible association.

Diacylglycerol-O-acyltransferase (DGAT1) gene encodes the rate-limiting enzyme of triglyceride synthesis. A polymorphism in this gene, DGAT1 K232A, has been associated with milk production and composition in taurine breeds. However, this polymorphism is not a good tool for ascertaining the effects of this QTL in Bos indicus (Zebu), since the frequency of the DGAT1 232A allele is too low in these breeds.

The ACTN3 genotype in soccer players in response to acute eccentric training.

Genetic factors can interfere with sporting performance. The identification of genetic predisposition of soccer players brings important information to trainers and coaches for individual training loads adjustment. Different responses to eccentric training could be observed by the genotype referred to as α-actinin-3 (ACTN3) in biomarkers of muscle damage, hormones and inflammatory responses.

Inbreeding and PKU allele frequency: Estimating by microsatellite approaches.

Unlabelled: Estimates of allele frequencies for recessive diseases are generally based on the frequency of affected individuals (q(2)). However, these estimates can be strongly biased due to inbreeding in the population.

Objectives: The purpose of this study was to gain a better understanding of how inbreeding in the Minas Gerais State population affects phenylketonuria (PKU) incidence in the state and to determine the inbreeding coefficient based on microsatellites.

Allele distribution of six STR/miniSTR loci (CD4, FABP2, D12S391, D14S1434, D22S1045 and D10S1248) for forensic purposes in Southeastern Brazil.

Background: Allele frequencies for six STR/miniSTR loci were determined in a sample of unrelated individuals from Southeastern Brazil.

Methods And Results: No significant deviations from Hardy-Weinberg equilibrium proportions were observed for the loci investigated (p-values ≥ 0.2320).

The time has come: a new scene for PKU treatment.

Phenylketonuria (PKU) is one of the few genetic diseases in which mental retardation can be prevented. Hence, diagnosis and treatment must be established early. PKU treatment consists of a phenylalanine-restricted diet supplemented with a phenylalanine-free mixture of amino acids.