Identification of de-novo CREBBP gene variants in patients with Rubinstein-Taybi syndrome.

Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant genetic disease characterized by growth retardation, psychomotor retardation, and distinctive facial features. It is primarily caused by mutations in CREBBP or EP300. In this study, we aimed to describe the clinical manifestations and genetic analyses of two cases with RSTS.

Precision measurement for effective pollution mitigation by evaluating air quality monitoring systems in linguistic Pythagorean fuzzy dombi environment.

Air quality is a major concern for human health, with pollutants linked to respiratory problems and chronic illnesses. Air quality monitoring systems are essential for measuring and tracking pollutants in indoor and outdoor environments. In the various disciplines of fuzzy environments, the aggregation operators are indispensable components of the decision-making process and possess a significant capacity to manage unpredictable and ambiguous data.

Analysis of Kinship and Population Genetic Structure of 53 Apricot Resources Based on Whole Genome Resequencing.

Based on the single nucleotide polymorphism (SNP) markers developed by whole genome resequencing (WGRS), the relationship and population genetic structure of 53 common apricot () varieties were analyzed to provide a theoretical basis for revealing the phylogenetic relationship and classification of the common apricot. WGRS was performed on 53 common apricot varieties, and high-quality SNP sites were obtained after alignment with the "" apricot genome as a reference. Phylogenetic analysis, G matrix analysis, principal component analysis, and population structure analysis were performed using Genome-wide Complex Trait Analysis (GCTA), FastTree, Admixture, and other software.