Molecular pathology of Schaaf-Yang syndrome: insights from MAGEL2 gene mutations and truncated proteins

Study results better define genetic landscape of cervical neuroendocrine tumors

mutation in McGill 2 The gene that causes Schaaf-Yan syndrome (SYS), an extremely rare disorder that affects neuronal and cognitive development, produces truncated, non-functional proteins that tend to accumulate in …

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Research team identifies four new genetic risk factors for multiple system atrophy

Research team identifies four new genetic risk factors for multiple system atrophy

Credit: Neurons (2024). DOI: 10.1016/j.neuron.2024.04.002 In a study published in Neurons, researchers have discovered four new genetic risk factors for multiple system atrophy (MSA), shedding light on this poorly understood …

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Study reveals challenges faced by caregivers of children with genetic disease

Study reveals challenges faced by caregivers of children with genetic disease

When it comes to improving the lives of children with genetic diseases, medical research often focuses only on children. But a faculty member in the University of Colorado School of …

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Optimi Health partners with Kwantlen Polytechnic University’s Center for Applied Genomics to promote mushroom science research

Optimi Health partners with Kwantlen Polytechnic University's Center for Applied Genomics to promote mushroom science research

VANCOUVER, British Columbia, April 23, 2024 (GLOBE NEWSWIRE) — Optimi Health Corp. (CSE: OPTI) (OTCQX: OPTHF) (FRA: 8BN), a leading manufacturer of psychedelic medicines licensed by Health Canada, is pleased …

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Magnetism in small amounts of hydrogen: Research team develops new ideas to improve properties of ultra-thin materials

Magnetism in small amounts of hydrogen: Research team develops new ideas to improve properties of ultra-thin materials

Graphical summary. Credit: nanoletters (2024). DOI: 10.1021/acs.nanolett.3c04777 Magnetic two-dimensional materials consisting of one or a few atomic layers were only recently known and promise interesting applications such as future electronics. …

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SalioGen Therapeutics Announces Data Presentation at Association for Research in Vision and Ophthalmology (ARVO) and American Society for Gene and Cell Therapy (ASGCT) 2024 Annual Meetings

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–Company to provide preclinical data for SGT-1001, development candidate for Stargardt disease — –New in vitro data demonstrate site-specific integration CFTRa potential mutation-agnostic cystic fibrosis treatment — Lexington, Massachusetts, April …

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Astrophysics research improves understanding of how gamma-ray bursts produce light

Astrophysics research improves understanding of how gamma-ray bursts produce light

Artistic concept: During a typical gamma-ray burst (GRB), a stream of particles pierces a star as it collapses into a black hole. Gamma bursts are the most energetic and brightest …

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Experts review current status of retinoblastoma research

Experts review current status of retinoblastoma research

Image source: Pixabay/CC0 Public Domain Retinoblastoma is a rare pediatric cancer with approximately 250,300 new cases in the United States and 8,000 worldwide each year. This cancer grows in the …

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