A5018086363- Connective tissue disorders research
- Hair Growth and Disorders
- Cardiac Valve Diseases and Treatments
- Parkinson's Disease Mechanisms and Treatments
- Bioinformatics and Genomic Networks
- Genetic Neurodegenerative Diseases
- Protease and Inhibitor Mechanisms
- Skin and Cellular Biology Research
- Genetic Syndromes and Imprinting
- Alzheimer's disease research and treatments
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- Wnt/β-catenin signaling in development and cancer
Oulu University Hospital
2021-2025
University of Oulu
2021-2025
Abstract Pathogenic loss-of-function variants in BGN , an X-linked gene encoding biglycan, are associated with Meester-Loeys syndrome (MRLS), a thoracic aortic aneurysm/dissection syndrome. Since the initial publication of five probands 2017, we have considerably expanded our MRLS cohort to total 18 (16 males and 2 females). Segregation analyses identified 36 additional variant-harboring family members (9 27 The were shown lead by cDNA Western Blot skin fibroblasts or strongly predicted...
Background: Rare variants of SORL1 have been associated with an increased risk early-onset or late-onset Alzheimer’s disease (AD). However, a lot remains to be clarified about their significance in the pathogenesis disease. Objective: To evaluate role among Finnish patients AD (EOAD). Methods: The rare SORL1variants were screened cohort 115 EOAD (mean age at onset 58.3 years, range 46–65 years) by using whole-exome sequencing. Results: We found one novel nonsense variant (p.Gln290*) and...