Buscar recursos académicos

Common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immunodeficiency and remains underdiagnosed in Brazil due to limited knowledge of its genetic landscape. Since 2024, the Centro Nacional d...

Abstract Transcriptome sequencing data offer a valuable resource for inferring genetic variants, yet their application in forensic individual identification and kinship analysis remains insufficiently explored. This stud...

Dichroplus elongatus is an extensively distributed South American grasshopper considered a pest of major crops. Argentinean populations show a widespread B-chromosome polymorphism which could be maintained as the result ...

Abstract Background Genetic analysis of the mitochondrial genome (mitogenome) has become essential for breed characterization, population genetics, and taxonomic studies in livestock. Genetic variations in mitochondrial ...

Background A new approach to estimating gene carrier rates was introduced in 2019, relying on the frequency of pathogenic/likely pathogenic (P/LP) variants from ClinVar in a large, population sequencing database (Genome ...

BackgroundType 2 diabetes (T2D) is a heterogeneous disease for which (1) disease-causing pathways are incompletely understood and (2) subclassification may improve patient management. Unlike other biomarkers, germline ge...

The choice of sampling method is essential in the development of a population genetic study. This choice influences the type of samples that can be obtained and, therefore, the quality of the extracted DNA. Sampling meth...

Abstract We conducted a Phenome-Wide Association Study (PheWAS) to investigate whether alleles previously shown to be associated with problem behaviors in Labrador Retrievers from the U.S. Transportation Security Adminis...

Genome-wide association (GWA) studies based on GBLUP models are a common practice in animal breeding. However, effect sizes of GWA tests are small, requiring larger sample sizes to enhance power of detection of rare vari...

Stylosanthes hippocampoides, a native legume forage species, was first studied by our research team in 2016 to assess genetic variability in natural populations in northeastern Argentina. Recurrent fires in the following...

Abstract Background Hepatocellular carcinoma (HCC) outcomes remain suboptimal. Myeloid-derived suppressor cells (MDSCs) exhibit notable immunosuppressive and pro-tumorigenic properties. However, the relationship with HCC...

The population structure of the Murciano-Granadina breed was determined using 25 microsatellites from 266 goats of seven populations. The results of the genetic differentiation analysis showed that it is possible to diff...

Abstract Recent advances in protein structure prediction have opened new avenues for understanding the potential impact of genetic mutations and how they might affect protein structure. In this study, we analyzed the dis...

Abstract Background The complex relationship between the gut microbiome and immune system development during infancy is considered a key factor in the rising rates of pediatric allergic diseases. Food protein-induced all...

Abstract Mortality rates from breast cancer in young women have fallen considerably in high-income countries but continue to rise in low-income countries such as Morocco. Young women with breast cancer face unique challe...

The HMGA1 (High Mobility Group AT-hook 1) gene is considered a candidate locus for growth- and fatness-related traits in pigs due to its involvement in transcriptional regulation and energy metabolism and its localizatio...

Abstract Rare disease gene discovery is limited by small cohorts and the frequent absence of matched controls. We present the Case-Only Burden Test (COBT), a gene-based burden test for case-only designs accounting for mu...

Abstract Background The prevalence and spectrum of PALB2 pathogenic/likely pathogenic variants (PV/LPVs) may vary across different regions, and these have not yet been analysed and reported in Slovenian HBOC families. Me...

Abstract Background Pyrethroid resistance continues to undermine malaria vector control across Africa, particularly in agricultural hotspots where insecticide pressure is high. However, the molecular mechanisms enabling ...

BackgroundT cell receptor excision circle (TREC)-based newborn screening (NBS) for severe combined immunodeficiency (SCID) has improved early diagnosis, treatment, and survival of SCID infants and identified additional c...

Abstract Objective Streptococcus shenyangsis is a recently reported member of the genus Streptococcus, rarely detected in the human oral cavity and for which genomic information remains limited. To broaden our understand...

Los monos aulladores negros y dorados (Alouatta carayá) son los primates neotropicales con distribución más austral. Actualmente están amenazados por el proceso de perdida y fragmentación de los bosques, provocado p...

El objetivo de este trabajo es describir los patrones de variación del tamaño corporal de las poblaciones del Holoceno tardío de Pampa y Patagonia Continental con el fin de discutir los procesos evolutivos que los hab...