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Nonsyndromic orofacial clefts (NSOC) are common congenital craniofacial developmental defects. Current evidence suggests that genetic factors, environmental exposures, and their interactions jointly contribute to the dev...

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...

Introduction Understanding the relative risk of the fragile X messenger ribonucleoprotein 1 (FMR1) premutation (PM) versus the risk of the PM and parenting a child with fragile X syndrome (FXS) is critical for PM carrier...

Materias / palabras clave: complex traits; domestic animals; epitranscriptome; genomics; GWAS; proteins

Human birth weight is under stabilizing selection, seeking balance between extremes of high and low, thereby reducing fetal and maternal perinatal mortality risk. Certain combinations of maternal killer immunoglobulin-li...

Tropomyosin is an actin-binding protein (ABP) which protects actin filaments from cofilin-mediated disassembly. Distinct tropomyosin isoforms have long been hypothesized to differentially sort to subcellular actin networ...

The outer membrane of gram-negative bacteria is a barrier to chemical and physical stress. Phospholipid transport between the inner and outer membranes has been an area of intense investigation and, in E. coli K-12, it h...

Evidence from both GWAS and clinical observation has suggested that certain psychiatric, metabolic, and autoimmune diseases are heterogeneous, comprising multiple subtypes with distinct genomic etiologies and Polygenic R...

Smilax glabra, a perennial vine with high pharmaceutical value, exhibits seed dormancy under natural conditions that severely restricts artificial propagation and industrial-scale cultivation. This study aims to systemat...

Circadian clocks coordinate time-of-day-specific metabolic and physiological processes to maximize organismal performance and fitness. In addition to light and temperature, which are regarded as strong zeitgebers for cir...

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...

Perlman syndrome is a rare autosomal recessive overgrowth disorder characterized by macrosomia, nephromegaly, renal dysplasia, and characteristic facial features. It has both similarities and differences to other more co...

Although DNA methylation is the best characterized epigenetic mark, the mechanism by which it is targeted to specific regions in the genome remains unclear. Recent studies have revealed that local DNA methylation profile...

Circadian rhythms are generated by endogenous pacemakers that rely on transcriptional-translational feedback mechanisms conserved among species. In Drosophila, the stability of a key pacemaker protein PERIOD (PER) is tig...

Introduction People who experience Ehlers-Danlos syndrome (EDS), particularly hypermobile EDS (hEDS), face significant delays in receiving an accurate diagnosis. They also tend to be misdiagnosed due to a widespread lack...

Abstract Prostate cancer (PCa) is a heterogeneous and prevalent neoplasm, traditionally stratified by PSA and Gleason Score. However, these biomarkers have prognostic limitations, driving the search for new molecular mar...

Abstract Background Head and neck squamous cell carcinoma (HNSCC) is a prevalent and aggressive malignancy with limited prognostic markers. Ubiquitin-specific peptidase 33 (USP33) has emerged as a potential modulator of ...

A series of yeast shuttle vectors and host strains has been created to allow more efficient manipulation of DNA in Saccharomyces cerevisiae. Transplacement vectors were constructed and used to derive yeast strains contai...

Materias / palabras clave: Mendelian randomization; Pleiotropy; Biology; Genetics; Trait; Mendelian inheritance; Outlier; Evolutionary biology; Statistics; Phenotype; Mathematics; Genetic variants

Materias / palabras clave: Biology; Suite; Software; Software suite; Scale (ratio); Software development; Sequence (biology); Computational biology; Data science; Bioinformatics; Computer science; Genetics

Page 108, last line of text, for P/P″ read P′/P″. Page 120, last line, for δ v read δ y . Page 123, line 10, for 4Nn read 4Nu. Page 125, line 1, for q read q. Page 126, line 12, for q read q. Page 135, line 5 fro...

Materias / palabras clave: Genome-wide association study; Heritability; Missing heritability problem; Genetic association; Quantitative trait locus; Single-nucleotide polymorphism; Linkage disequilibrium; Trait; Genetics; Biology; Computer science...