Klinefelter syndrome is a genetic condition that affects only males. Here's what you should know about the causes, symptoms, and treatment options for the condition. Klinefelter syndrome is a genetic ...

Bengaluru: Gene editing techniques may one day allow for the removal of the extra chromosome that causes Down syndrome, early experiments suggest. Down syndrome, or trisomy 21, is caused by the ...

Scientists have identified how Rett syndrome progresses at the molecular level. The loss of MeCP2 in adult brains triggers rapid gene dysregulation, independent of developmental factors. These ...

June 13, 2024 — A viral gene therapy has reversed some brain abnormalities in infant mice with FOXG1 syndrome, a significant step toward one day treating children with this severe neurodevelopmental ...

Feb. 20, 2025 — Biologists have discovered a new type of RNA-splicing regulation that helps to determine which protein-coding exons will be included in messenger RNA ...

Methods We examined the UBA1 gene in 9 patients with clinically suspected VEXAS syndrome. We first focused on variants p.Met41Val, p.Met41Thr and p.Met41Leu with a known association with this disease ...

When homology is not used to ensure that molecules are rejoined in the correct positions, there is some probability that genetic change such as copy number variation will result. These mechanisms ...

This subsequently leads to DNA damage, which eventually evolves into ICF syndrome. Ongoing research on MECP2 delivery methods and therapeutic approaches, including gene therapy and novel ...

Eye color is a complex genetic trait determined by pairings of genes passed on from each parent. Scientists once believed eye color was determined by a single gene, but advances in genetic research ...

Gene editing techniques may eventually allow trisomy to be treated at the cellular level, according to an in vitro proof-of-concept study. Down syndrome is caused by the presence of a third copy ...

Conclusion: Although RAI1 is the primary gene responsible for most features of SMS, other genes within 17p11.2 contribute to the variable features and overall severity of the syndrome. Statistical ...