Recent studies have provided insights into the pathogenesis of Becker's nevus, suggesting that postzygotic mutations in the ACTB gene may play a significant role in its development[1]. This ...

Genomic alterations (including copy number alterations and somatic mutations), clonal architectures and transcriptome dynamics during adenocarcinoma carcinogenesis were comprehensively investigated.

In cancer, the impact on cellular fitness of copy-number gains affecting collaterally-amplified genes remains poorly understood compared to oncogenes. Here, the authors integrate genomic data from ...

The past 20 years have provided us with major advances in our understanding of fibrous dysplasia (FD). Ongoing genetic research may lead to a more precise understanding of the exact gene mutations ...

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 ...

Karyotyping detects structural changes >3–10 Mb in size and it is well-suited for complex rearrangements involving multiple chromosomes (46). To detect CDKN1C mutations or other gene mutations in the ...

While the virus is generally found in wild birds and poses risk only to poultry, its spread to a new range of mammals may pave the way for new mutations that could increase its lethality. In 2024, the ...

Feb. 7, 2025 — A research team has made a major discovery on how the CUL5 gene affects CAR-T cell therapy, an advanced cancer therapy. The study reveals that reducing the activity of the CUL5 ...

Gene sequencing of these D1.1 viruses has found a mutation that helps the virus copy itself more efficiently into the cells of mammals, including people. This change hasn’t been seen in other D1 ...