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Introduction and aims: Submucous cleft palate (SMCP) is a congenital craniofacial malformation. While TBX22 is a known pathogenic gene, the potential role of TBX15 in SMCP remains unclear. This study aimed to investigate...

As research and services in the Mediterranean region continue to increase, so do opportunities for global collaboration. To support such collaborations, the Alzheimer's Association was due to hold its seventh Alzheimer's...

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...

Machaerium villosum is an important tree species from Southeastern Brazil. We report hereby 10 new microsatellite markers to investigate the structure and genetic diversity of this species. Ninety-seven alleles were dete...

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...

Dr. Carla Riva-Rossi has over 25 years’ experience studying the evolutionary ecology of anadromous fishes. She received an MS in biological sciences from the Facultad de Ciencias Naturales, Universidad Nacional de la P...

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 ...

ABSTRACT The application of molecular techniques to tackle ecological and evolutionary questions requires genomic DNA in good quality and quantity. The quality of the isolated DNA, however, can be influenced by the tissu...

Abstract Objective Carrot (Daucus carota) is a widely cultivated vegetable crop with high nutritional value. Alternaria is one of the most damaging fungal pathogens to carrots, responsible for diseases such as leaf bligh...

Pulmonary hypertension (PH) is a severe cardiopulmonary disorder characterized by pulmonary vascular remodeling, which leads to increased pulmonary vascular resistance (PVR), right ventricular (RV) hypertrophy, and ultim...

Septic arthritis is rarely seen in transplant patients and differs from the general population with regards to gram negative and/or atypical agents being the prominent causes. In renal transplant patients, osteonecrosis ...

ABSTRACT Cystic fibrosis (CF) and inflammatory bowel disease (IBD) represent distinct pathologies with unique genetic underpinnings; yet, they share remarkable similarities in gut microbiota dysbiosis and intestinal phys...

Abstract Myasthenia gravis (MG) is an autoimmune disorder characterized by impaired neuromuscular transmission and motor symptoms. Its genetic background remains unclear, particularly beyond specific subtypes reported in...

Abstract Whole-genome sequencing (WGS) of morphology-selected sperm pools provides an exploratory approach for investigating genomic features associated with variable sperm quality. In this study, pooled DNA from 1500 in...

Partially clonal plants are common and often act as ecological foundation species. Patterns of clonal genotypes (genets) and their vegetative modules (ramets) in natural populations remain poorly documented. Knowledge ga...

Mycobacterium tuberculosis (M.tb.) infection leads to over 1.5 million deaths annually, despite widespread vaccination with BCG at birth. Causes for the ongoing tuberculosis endemic are complex and include the failure of...

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...

The Modern Synthesis was not widely adopted by paleoanthropologists until the 1950s, but the perception has been that this event had important theoretical and methodological consequences for the study of hominid evolutio...

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...

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...

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...

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...