Publications by authors named "A Yaramıs"
Background: Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and processes utilizing enrichment analyses.
Methods: In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes enrichment analysis.
The integration of genomic information into microbial systematics along with physiological and chemotaxonomic parameters provides for a reliable classification of prokaryotes. analysis of chemotaxonomic traits is now being introduced to replace characteristics traditionally determined in the laboratory with the dual goal of both increasing the speed of the description of taxa and the accuracy and consistency of taxonomic reports. Genomics has already successfully been applied in the taxonomic rearrangement of but in the light of new genomic data the taxonomy of the family needs to be revisited.
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- * A study of 246 children from consanguineous families utilized advanced techniques like whole exome sequencing, revealing causative genetic variants in 72% of families and increasing the overall diagnostic yield to 86% with new gene discoveries.
- * The research showed that most identified variants were homozygous and that common pathways involved in these neurogenetic diseases included protein synthesis/degradation defects and metabolic disorders, providing new insights into the genetic landscape of this population.
Article Synopsis
- Microtubules play a crucial role in forming the cytoskeleton in neurons and other cells, and mutations in the gamma-tubulin complex have been associated with neurodevelopmental disorders.
- A Turkish family with two siblings exhibited developmental issues and brain malformations due to a homozygous mutation in the GCP2 protein, which affects its interaction with GCP3.
- Proteomic analyses revealed that this mutation disrupts proteins essential for cytoskeleton assembly and neuronal function, implicating GCP2 and the γ-tubulin complex in central nervous system development.