Publications by authors named "Safaa Saker-Delye"
Endotypes are characterized by the immunological, inflammatory, metabolic, and remodelling pathways that explain the mechanisms underlying the clinical presentation (phenotype) of a disease. Recessive dystrophic epidermolysis bullosa (RDEB) is a severe blistering disease caused by COL7A1 pathogenic variants. Although underscored by animal studies, the endotypes of human RDEB are poorly understood.
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- * Researchers discovered 287 genomic regions associated with schizophrenia, emphasizing genes specifically active in excitatory and inhibitory neurons, and identified 120 key genes potentially responsible for these associations.
- * The findings highlight important biological processes related to neuronal function, suggesting overlaps between common and rare genetic variants in both schizophrenia and neurodevelopmental disorders, ultimately aiding future research on these conditions.
Article Synopsis
- Researchers studied the genetic underpinnings of amyotrophic lateral sclerosis (ALS) by using data from 1,861 ALS patients and control subjects to create an imputation reference panel.
- They conducted detailed analyses involving over 36,000 participants, discovering new risk loci related to ALS on chromosome 21, specifically linking the gene C21orf2 to increased ALS risk.
- The findings suggest ALS has a complex genetic basis with many contributing factors, and emphasize the need for further research with larger samples to find rare genetic variants that could lead to a better understanding of ALS risk.