An Israeli study has identified TRIM63 as a significant genetic contributor to hypertrophic cardiomyopathy (HCM)—the most common hereditary heart disease worldwide. The findings, published in ...

However, people with MTHFR gene mutations may find it challenging to absorb and use iron effectively, resulting in iron deficiency anemia. Iron supplements are an effective way to boost iron ...

Psoriatic arthritis (PsA) is a heterogeneous, chronic inflammatory musculoskeletal disease associated with psoriasis, a chronic autoimmune skin disease affecting 2-3% of the world’s population and ...

Scientists mapped genetic mutations in stomach lining cells and found early cancer signals and rare chromosome anomalies, suggesting a potential new mutagen. The study deepens understanding of how ...

This report is based on two common genetic variants in the MTHFR gene, called C677T and A1298C, that can lead to small increases in homocysteine levels. If homocysteine is too high, it can ...

Background: Germline mutations in signal transducer and activator of transcription 1 (STAT1), which lead to primary immunodeficiency, are classified as defects in intrinsic and innate immunity. To ...

Von Hippel–Lindau (VHL) disease is a rare autosomal-dominant inherited tumor syndrome. We aimed to analyze the correlations between frequent VHL mutations and phenotypes in Chinese VHL families. We ...