This study offers important insight into the pathogenic basis of intragenic frameshift deletions in the carboxy-terminal domain of MECP2, which account for some Rett syndrome cases, yet similar ...

A gene mutation is a permanent alteration in the DNA sequence of a gene. These changes can be as small as a single base pair or involve a large segment of DNA. Gene mutations are primarily categorized ...

While exploring the provided human to chimp example, I noticed something confusing about mutation_type column in score.txt. The most common mutation type is reported as frameshift, whereas I would ...

Scientists link a rare genetic mutation to aggressive prostate cancer risk and possible better outcomes with targeted drugs. Credit: SciTechDaily.com A newly identified mutation dramatically raises ...

Identifying and classifying gene mutations - which are the permanent changes in a person's DNA genetic code - are critical in better understanding, and with research, eventually treating or preventing ...

Johns Hopkins Medicine-led research team believes the effect of the mutation and the number of people who carry it is similar to BRCA2 and other gene mutations that have been connected with an ...

Recent advances of cancer immunotherapy have identified neoantigens as essential targets for personalized treatments. However, since neoantigens are generally unique in individual cancers, neoantigen ...

Background: Increasingly, rare variants in genes encoding sarcomeric proteins like titin, have been associated with early-onset atrial fibrillation (EOAF) in part by the development of an atrial ...

Beijing Zhongke Journal Publising Co. Ltd. This study is led by Professor Kabin Xie (Institute of Huazhong Agricultural University College of Plant Science and Technology, Wuhan, China).

Summary: Researchers made significant strides in understanding autism spectrum disorder’s genetic underpinnings. By studying mice with a frameshift mutation in the KMT2C gene, they observed behavioral ...