Project description:Focuses on delineating the pathogenic gene landscape and molecular mechanisms of motile ciliopathies, dissecting genetic heterogeneity and genotype–phenotype correlations, and advancing precision diagnosis and targeted therapy.
Project description:For art historians, understanding the animal origin of blood used in artworks is crucial for interpreting materials, techniques, and historical practices. It provides insight into the cultural, and religious significance of the work and allows for a more nuanced interpretation of its symbolic meaning. In this work, sets of peptides of blood proteins, more specifically their amino acid sequences, that are responsible for the differences between seven animal species (cat, cow, dog, goose, hen, human, and pig) were identified by LC-MS/MS. Protein materials used for the preparation of six model blood coatings were confirmed and the animal origin of the used blood was found. Finally, the blood origin in four samples taken from a set of Japanese and Chinese lacquer artworks from 18th and 19th century was also determined.
Project description:Dog breeding promotes within-group homogeneity through conformation to strict breed standards and also drives between-group heterogeneity in pursuit of distinct morphological forms and characteristic breed traits. In this study, the genotype-first approach was adapted to the dog genome to investigate coding variation from over 2000 dogs, leading to discoveries of new mutations related to craniofacial morphology and stature. Breed enriched variants were prioritized according to gene constraint, which was calculated using a mutation model derived from trinucleotide substitution probabilities in the dog. Most priority variants were not associated with genomic signatures for breed differentiation, as these regions were enriched for constrained genes intolerant to nonsynonymous variation, suggesting a model of breed phenotype diversification based on regulatory changes to essential genes. Identification of trait-associated variants in dogs informs new biological roles of genes. Improved collection of breed disease risk data, along with increased breed representation, will drive further discoveries.
2024-10-02 | GSE278600 | GEO
Project description:Cat and dog faecal microbiome comparison
