OCTOBER 10, 2024, NEW YORK – A Ludwig Cancer Research study has punctured a longstanding assumption about the source of the most common type of DNA mutation seen in the genome—one that ...

Gene mutation discovered that causes language impairment, ADHD and myasthenia. ScienceDaily. Retrieved June 2, 2025 from www.sciencedaily.com / releases / 2022 / 09 / 220922103132.htm.

The discoveries were possible as a result of the creation of Human Domainome 1, a huge library of protein variants. The catalogue includes more than half a million mutations across 522 human ...

But now there might be hope. Researchers used a mouse model to identify a mutation in a gene known as IKBKB that causes a group of immune cells called regulatory T-cells to misfire.

For 30 years, researchers have known that Huntington's is caused by an inherited mutation in the Huntingtin (HTT) gene, but they didn't know how the mutation causes brain cell death.

Medically reviewed by Jeffrey S. Lander, MD ATTR-CM is an acronym for the medical condition called transthyretin amyloid cardiomyopathy. There are two causes of ATTR-CM, an inherited gene mutation and ...

Without this specific mutation in the non-catalytic domain, the enzyme retains its normal function. The next step would be to determine what is the 3D conformation in mutant SKD3 that causes MGCA7 ...

A University of Massachusetts Amherst scientist has discovered that a mutation in the misfolding protein that causes Parkinson’s disease offers protection against another fatal neurodegenerative ...

The mutation causes people to have a faulty receptor for growth hormone, leading them to be short in stature. People with Laron syndrome also have lower levels of IGF-1, ...

In two separate studies, researchers have identified the mutation that can lead to the autoimmune disease lupus. The discovery opens the door to new therapeutic approaches and testing for the ...

A team of scientists led by Prof. Patrik Verstreken (VIB-KU Leuven) has identified a new genetic mutation that may cause a form of early-onset Parkinsonism.

Given an average incidence of ALS of 1.4–2.47 cases/100 000 people/year, we calculated an expected number of cases of 0.44–0.77 per year in this area, equivalent to 5-10 patients during the ...