Publications by authors named "V M Kalscheuer"
Article Synopsis
- Mutations in the PQBP1 gene are linked to Renpenning syndrome, a neurodevelopmental disorder that causes intellectual disability, primarily affecting males due to its X-linked inheritance.
- Researchers knocked down PQBP1 in human neural stem cells, finding reduced cell growth and changes in 58 gene expressions related to neurodegeneration and immunity.
- The study identified a specific isoform of the UPF3B gene associated with PQBP1 mutations, suggesting unique functions for different isoforms, and utilized this finding to assess the impact of various PQBP1 gene variants in patients with neurodevelopmental disorders.
Mouse models are a critical tool for studying human diseases, particularly developmental disorders. However, conventional approaches for phenotyping may fail to detect subtle defects throughout the developing mouse. Here we set out to establish single-cell RNA sequencing of the whole embryo as a scalable platform for the systematic phenotyping of mouse genetic models.
View Article and Find Full Text PDFThousands of genetic variants in protein-coding genes have been linked to disease. However, the functional impact of most variants is unknown as they occur within intrinsically disordered protein regions that have poorly defined functions. Intrinsically disordered regions can mediate phase separation and the formation of biomolecular condensates, such as the nucleolus.
View Article and Find Full Text PDFArticle Synopsis
- Major advancements have occurred in identifying new genes linked to neurodevelopmental disorders, but understanding their mechanisms to develop therapies is still lagging.
- Researchers focused on 45 genes associated with intellectual disabilities, creating mouse models to study their behavior and cognitive functions through various developmental stages.
- Results revealed diverse behavioral phenotypes among genetic mutations, highlighting the complexity of these disorders and underscoring the need for systematic investigations to inform therapeutic strategies.
Article Synopsis
- Recent research highlights the role of missense and truncating variants in the CLCN4 gene, affecting chloride/proton exchange and leading to neurocognitive issues in both genders.
- A comprehensive database was created from 90 families, identifying 41 unique and 18 recurrent CLCN4 variants, with detailed clinical data collected from 43 families.
- Functional studies in Xenopus oocytes revealed that 25% of the variants displayed loss-of-function characteristics, while others led to gain-of-function issues, indicating the complexities of assessing genetic pathogenicity and suggesting a need for better patient care and further research.