News Medical

Study identifies potential gain of function mutation in retinoblastoma

A new research paper was published in Volume 16 of Genes & Cancer on January 20, 2025, entitled, "Analysis of pathogenic variants in retinoblastoma reveals a potential gain of function mutation." ...
Business Wire

n-Lorem Publishes Recommendations for Treating Patients with Heterozygous Toxic Gain of Function Mutations

SAN DIEGO--(BUSINESS WIRE)--n-Lorem, a nonprofit foundation, announced today the publication of an article in the journal Nucleic Acid Therapeutics that explores potential regulatory approaches that ...
Technology Networks

How Loss and Gain of Motor Protein Function Causes Neurodegeneration

Researchers have identified a mechanism which can explain aspects of neurodegeneration which have baffled scientists for ...
Nature

Chronic Mucocutaneous Candidiasis and STAT1 Gain-of-Function Mutations

Chronic mucocutaneous candidiasis (CMC) is a condition characterised by recurrent or persistent infections of the skin, nails and mucous membranes caused predominantly by Candida species. A ...
News Medical

Study reveals how a microglial mutation increases risk for Alzheimer's disease

Dominika Pilat, PhD, and Ana Griciuc, PhD, of the Department of Neurology at Massachusetts General Hospital are the lead and senior authors of a paper published in Neuron, "The Gain-of-Function ...

Decades-Old Drug May Offer First Real Hope for Ultra-Rare, Life-Threatening Genetic Disorder

A long-established drug with a diverse medical history is drawing new attention for its potential role in treating an ultra-rare and life-threatening genetic disorder. Early findings suggest that a me ...