Massive Parkinson’s Genetics Study Confirms Rare Gene Variants Raise Disease Risk
New data from the 8,660-participant ROPAD cohort corroborate that ITSN1 loss-of-function variants raise Parkinson's disease risk five- to fifteen-fold, while ...
Tag: haploinsufficiency
Large Parkinson’s Study Confirms Rare ITSN1 Gene Variants Raise Disease Risk
An analysis of 8,660 genetically characterized Parkinson's patients from the ROPAD study confirms that heterozygous loss-of-function variants in the ITSN1 ...
Novel KRIT1 Gene Variant Linked to Severe Pediatric Familial Brain Vessel Malformations
Researchers have identified a novel KRIT1 initiation-region frameshift variant in a pediatric family whose members range from asymptomatic lesion carriers ...
Hidden RNA Switches Offer a New Way to Boost Genes in Rare Disease
Scientists have shown that removing hidden repressive elements from RNA messages with splice-switching antisense oligonucleotides can boost protein production from ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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