Publications by authors named "M W Elting"
Purpose: AUTS2-related syndrome is a condition characterized by developmental delay, autism spectrum disorder, and intellectual disability. From alternative promoters AUTS2 encodes two distinct long and short isoforms encoding a putative transcriptional activator.
Methods: Through a European collaborative study, we collected clinical and genotype data on the largest AUTS2- related syndrome cohort of 58 patients harboring genomic rearrangements or single nucleotide variants (SNVs).
Background And Objectives: Identifying genetic causes of dementia in patients visiting memory clinics is important for patient care and family planning. Traditional clinical selection criteria for genetic testing may miss carriers of pathogenic variants in dementia-related genes. This study aimed identify how many carriers we are missing and to optimize criteria for selecting patients for genetic counseling in memory clinics.
View Article and Find Full Text PDFis a unicellular ciliate capable of contracting to a quarter of its body length in less than five milliseconds. When measured as fractional shortening, this is an order of magnitude faster than motion powered by actomyosin. Myonemes, which are protein networks found near the cortex of many protists, are believed to power contraction.
View Article and Find Full Text PDFArticle Synopsis
- - Osteogenesis Imperfecta (OI), or "brittle bone disease," is a rare genetic disorder that causes fragile bones and potential deformities due to defects in collagen type I, requiring comprehensive care throughout a patient's life stages.
- - Treatment primarily focuses on supportive measures, including medications like bisphosphonates and various orthopedic surgeries, which have shown positive results, especially in children, but there is a notable lack of guidelines for adults transitioning from pediatric care.
- - A systematic review of existing literature emphasizes the need for a multifaceted approach by various medical specialists to enhance the transition from pediatric to adult care for OI patients, stressing the importance of education, personalized plans, and ongoing follow-up.