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Comprehensive open-access database of genetic diseases and variants in the Arab World
Study uncovers novel genetic association with a fatal form of pediatric liver disease. Loss-of-function variants in the FOCAD gene was associated with early-onset liver cirrhosis. Read about the study here: https://t.co/4vtFnqsmjl #liver #cirrhosis #genetics #mutations #variant
eurekalert.org/news-releases/…
10 days ago
Recent research into Cystic Fibrosis #treatment utilizes antisense oligonucleotides to circumvent nonsense-mediated mRNA decay and produce partially-functioning CFTR protein: https://t.co/r5xwq2K3QV Check out the main article on Nature: https://t.co/W5hHb7exl0 #cysticfibrosis
cshl.edu/a-new-treatmen… nature.com/articles/s4146…
22 days ago
Study utilizes UK biobank genetic and health data to analyze European ancestry. Analysis of shared genomes revealed three distinct branches of genetic background, from southern, central-eastern, and northwestern Europe: https://t.co/j8F2B9qKZT #population #populationgenetics
news-medical.net/news/20220613/…
June 14, 2022
Suppressing the gene ZNF117 was shown to trigger mature #cancer cell development. This finding opens doors to improved therapy, as triggering #Glioblastoma #stemcell differentiation into mature lineages makes them more susceptible to #chemotherapy: https://t.co/1iVPuJWakb #gene
neurosciencenews.com/glioblastoma-s…
May 26, 2022
A recent study expanded and reviewed the molecular spectrum of Usher Syndrome in Lebanon. Six variants including four novel variants in four associated genes were identified in eight families. https://t.co/ujOxkLdXOT #Lebanon #genetics #UsherSyndrome #Usher #genes #raredisease
frontiersin.org/articles/10.33…
May 18, 2022