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." ...
EurekAlert!

Pathogenic variants in retinoblastoma suggest a potential gain-of-function mutation

Figure 6. Mexican family carrying the truncated mutant pR552*. (A) Pedigree Analysis: The family pedigree indicates that the father and all three sons present the disease. (B) Data from the family ...
EurekAlert!

Research Spotlight: Surprising gene mutation in brain’s immune cells linked to increased Alzheimer’s risk

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 ...
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 ...
Nature

Prevalence of loss-of-function, gain-of-function and dominant-negative mechanisms across genetic disease phenotypes

Molecular disease mechanisms caused by mutations in protein-coding regions are diverse, but they can be broadly categorised into loss-of-function, gain-of-function and dominant-negative effects.
Nature

WWP1 gain-of-function drives developmental anoikis through TGFβ pathway during neurodevelopment

The E3 ubiquitin ligase WWP1 orchestrates multiple cellular functions, yet the neurodevelopmental role and pathological implications of its dysregulation remain poorly defined, in contrast to its ...
ascopubs.org

AlphaMissense for Identifying Pathogenic Missense Mutations in DNA Damage Repair Genes in Cancer

Relationship Among DNA Damage Response Gene Alterations, Molecular Subtypes, and Survival Outcomes in Patients With Metastatic Bladder Cancer Treated on CALGB 90601 Sequencing data from 56,965 ...