Inhibition of nonsense-mediated decay turns immunologically cold tumors hot by increasing the amount of mutant RNA leading to an increase in T-cell-targetable neoantigens on the cell surface.

As an intrinsic cellular pathway, nonsense-mediated decay (NMD) conceals neoantigens through the destruction of the RNA products from genes harboring truncating mutations. We developed and conducted a ...

Adam Pearson had the perfect response to a cruel troll who questioned whether he was going to the circus instead of the ...

While some mutations can introduce premature termination codons (PTCs) into genes, nonsense mediated decay (NMD) can detect these PTCs and then eliminate the abnormal transcripts. PTCs and NMD play ...

Betsy Sullivan, a teenager with CF, from the CF Community Blog Each day, people with CF complete a combination of the following therapies: Today, the Foundation is focused on developing lifesaving new ...

The clinical phenotype involves multiple organs and systems, including liver, eyes, ears, skeletal muscle and central nervous system. Mutations in ABHD5/CGI58 gene have been confirmed to be associated ...

Retinitis pigmentosa (RP) is a leading cause of vision impairment and blindness worldwide, with limited medical treatment options. USH2A mutations are one of the most common causes of non-syndromic RP ...

研究人员首次发现，人类细胞自带一套精密的"应急修复系统"，当检测到关键基因故障时，会自动激活"替补基因"展开修复。更令人振奋的是，这项机制可被人工干预精确调控，为DMD乃至6000多种单基因遗传病带来 ...

A classification scheme is given in Box 1. There are two main etiologic categories; the first comprises genetic disorders caused by mutations in genes that have a role in the growth-hormone–IGF1 ...

Objectives Mutations in the X-linked endosomal Na+/H+ exchanger 6 (NHE6) cause Christianson syndrome (CS). Here, in the largest study to date, we examine genetic diversity and clinical progression in ...

Background De novo mutations (DNMs) are linked with many severe early-onset disorders ranging from rare congenital malformation to intellectual disability. Conventionally, DNMs are considered to have ...