2024年12月25日 · IFIH1 (Interferon Induced With Helicase C Domain 1) is a Protein Coding gene. Diseases associated with IFIH1 include Singleton-Merten Syndrome 1 and Aicardi-Goutieres …

The IFIH1 gene provides instructions for making the MDA5 protein, which plays an important role in innate immunity, the body's early, nonspecific response to foreign invaders (pathogens) …

2014年3月30日 · We found that heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (also called MDA5) cause a spectrum of neuroimmunological features …

Using exome and transcriptome sequencing, we identified and characterized three rare loss-of-function variants in IFIH1, which encodes an RIG-I-like receptor involved in the sensing of viral …

2025年2月9日 · Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling, including Aicardi-Goutieres …

We identified a common missense mutation, c.2465G>A (p.Arg822Gln), in interferon induced with helicase C domain 1 (IFIH1, encoding melanoma differentiation-associated protein 5 [MDA5]) …

The IFIH1 gene encodes a cytoplasmic receptor that senses dsRNA viral products to activate type I interferon signaling through the MAVS (609676) adaptor molecule. This can inhibit virus …

We found that heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (also called MDA5) cause a spectrum of neuroimmunological features consistently associated …

2025年1月4日 · IFIH1 encodes MDA5 which is an intracellular sensor of viral RNA that triggers the innate immune response. Sensing RNA length and secondary structure, MDA5 binds …

Variants (also called mutations) in the IFIH1 gene have been found to cause Aicardi-Goutières syndrome. This disorder is characterized by abnormalities of the immune system, skin, and …