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 ...
Modern Engineering Marvels on MSN
GRIN2A null variants linked to childhood-onset mental disorders and L-serine therapy
Could one genetic mutation be sufficient to bring on complex psychopathology? For decades, dominant models of mental ...
Firmonertinib has the potential to redefine first-line treatment in this underserved population as a once daily, oral, brain-penetrant, ...
Health and Me on MSN
This one gene may be triggering mental illness in children; scientists say it changes everything
German scientists have identified rare GRIN2A gene variants that may directly cause early-onset mental illness, sometimes without epilepsy or intellectual disability. The study shows null mutations ...
Artur is a copywriter and SEO specialist, as well as a small business owner. In his free time, he loves to play computer games and is glad that he was able to connect his professional career with his ...
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 ...
Relationship Among DNA Damage Response Gene Alterations, Molecular Subtypes, and Survival Outcomes in Patients With Metastatic Bladder Cancer Treated on CALGB 90601 Sequencing data from 56,965 ...
In genomes, three letters or bases of DNA encode an amino acid. Amino acids are then strung together by the cell to create proteins. There is some redundancy in that genetic code, but there are single ...
A new mega-database of half a million mutations may flag new ways of treating genetic disease, scientists say. When you purchase through links on our site, we may earn an affiliate commission. Here’s ...
A comprehensive analysis of over 500,000 human protein variants reveals that 60% of disease-causing missense mutations reduce protein stability In a recent study published in Nature, researchers used ...
Most mutations which cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a massive study of human protein variants published today in the ...
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