Experiments that construct or discover protein point-mutations and investigate their functional consequences represent one of the cornerstones of biomedical investigation. And yet, despite the ...

A recent paper by Syed et al. demonstrates that mutations in the Nucleocapsid (N) protein, one of the four structural proteins in SARS-CoV-2 in addition to the Spike protein, plays a critical role ...

An international research team led by Justus Liebig University Giessen (JLU) and the Joint FAO/IAEA Center of Nuclear ...

Hunting mutations. A point mutation in a DNA gene will be transcribed into RNA, sometimes disabling the resulting protein or altering its function, often with consequences for human health.

European Journal of Human Genetics - A Point Mutation in the XNP Gene, Associated with an ATR-X Phenotype without α-Thalassemia Skip to main content Thank you for visiting nature.com.

Some people can feel well-rested and show no negative effects of sleep deprivation, even after just 4 hours of sleep, which is likely the result of a genetic mutation. A recent study ...

Somatic point mutations in RUNX1/CBFA2/AML1 are common in high-risk myelodysplastic syndrome, but not in myelofibrosis with myeloid metaplasia. Eur J Haematol 2005;74:47-53 Crossref ...

William Vainchenker had long suspected a rogue JAK2 tyrosine kinase to be the cause of the myeloproliferative disorder, polycythemia vera. But with very limited resources at his disposal at the ...

EGFR mutations show up as deletions (parts are missing), insertions (extra segments are present), or point mutations (only a few small nucleotides are affected) in your EGFR gene.

Somatic STAT3 mutations in expanded T-cell clones are also present in other immune-mediated bone marrow failure syndromes: aplastic anemia, pure red-cell aplasia, and hypoplastic myelodysplastic ...