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 A key factor contributing to the success of Darwin and Wallace’s theory of biological evolution by natural selection was its population-level perspective. This conceptual framework was not immediately adopted,...

Abstract While both common and rare variants contribute to the genetic etiology of complex traits, whether their impacts manifest through the same effector genes and molecular mechanisms is not well understood. Here, we ...

The coevolution of the human diet and gut microbiome has played a pivotal role in shaping metabolic, immune, and epigenetic functions across human history. Dietary transitions from high-fiber ancestral patterns to modern...

ABSTRACT Microbiology, the study of microorganisms, is of critical importance to a variety of fields, including medicine, nursing, genetics, and immunology, as well as to students training to enter those fields. By defin...

Abstract Endurance exercise training is known to reduce risk for a range of complex diseases. However, the molecular basis of this effect has been challenging to study and largely restricted to analyses of either few or ...

BackgroundThe research on human microbiota-associated (HMA) animal models is an important tool for studying the human microbiome and holds great potential for elucidating disease mechanisms and microbe-based therapeutic ...

Abstract Background Type 1 diabetes (T1D) is a lifelong autoimmune condition characterised by the progressive immune-mediated destruction of insulin-secreting β-cells within the pancreatic islets, culminating in absolut...

Abstract Background Endothelial cells (ECs) orchestrate vascular homeostasis and resilience but can undergo reprogramming into a mesenchymal-like phenotype through an endothelial-to-mesenchymal transition (EndMT). Crucia...

IntroductionRNU4ATAC-opathies are characterized by biallelic pathogenic variants and include three recognized phenotypes: autosomal recessive Roifman syndrome, microcephalic osteodysplastic primordial dwarfism (MOPD), an...

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...

IntroductionKabuki syndrome (KS) is a rare, complex, multisystem, neurodevelopmental congenital disorder with characteristic phenotypic anomalies and pathogenic genetic variants of the KMT2D or KDM6A genes. KS is highly ...

IntroductionThe MIRACLE Task Force is a multidisciplinary, multi-institutional work group comprising immunology, genetics, obstetrics/gynecology, and maternal fetal medicine providers dedicated to understanding reproduct...

IntroductionRelA deficiency is a recently recognized inborn error of immunity (IEI) caused by mutations in the RELA gene. RelA is a transcriptional factor in the NF-kB pathway. Deficiency of RelA leads to impaired downre...

Background22q11.2 deletion syndrome (DS) is the most common chromosomal microdeletion syndrome and a leading cause of developmental delay, congenital heart disease, and varying degrees of T cell immunodeficiency. While m...

DNA ligase IV (LIG4) is essential for repairing breaks in double-stranded DNA via nonhomologous end-joining in developing lymphocytes and is particularly important for V(D)J recombination. First described in the early 20...

Abstract Immune system dysregulation is implicated in a wide range of human diseases, including cancer. Genetic studies have shown evidence of a link between immune diseases and cancer; therefore, deficits of immune syst...

Deficiency of adenosine deaminase 2 (DADA2) was identified in 2014 as a novel inborn error of immunity caused by biallelic pathogenic variants in ADA2. DADA2 patients express two predominant clinical phenotypes: (1) auto...

BackgroundPrimary ciliary dyskinesia (PCD) management relies on mucociliary clearance to prevent bronchiectasis. While humoral immunodeficiencies have been reported in PCD, their clinical significance remains under-defin...

Abstract Background Super-enhancers are critical cis-regulatory elements that play a central role in modulating gene expression and driving cellular identity. Their dysregulation is closely associated with the developmen...

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a monogenic disorder caused by loss-of-function mutations in the FOXP3 gene, which is critical for the development of functional regulato...

There is increasing evidence that genome-wide association (GWA) studies represent a powerful approach to the identification of genes involved in common human diseases. We describe a joint GWA study (using the Affymetrix ...

The UK Biobank project is a prospective cohort study with deep genetic and phenotypic data collected on approximately 500,000 individuals from across the United Kingdom, aged between 40 and 69 at recruitment. The open re...

To understand the impact of gut microbes on human health and well-being it is crucial to assess their genetic potential. Here we describe the Illumina-based metagenomic sequencing, assembly and characterization of 3.3 mi...