We report three familial early-onset liver cirrhosis pedigrees with homozygous KIF12 mutations, accompanying MASH-like steatosis and cholestasis. The mouse genetic model carrying the corresponding ...

We select S1 5′-strand residues as the mutation region in order to break the G-C pairs that stabilize AS1 and restore S1. AH residues are selected as the mutation region to break the base pairs and ...

We analyzed mutations, RFLP haplotypes (H), and a VNTR polymorphism at the phenylalanine hydroxylase locus (PAH) in 12 French-Canadian patients with phenylketonuria (PKU) from the eastern region ...

Turning the tides in pediatric cancer treatment, a team of Seattle-based doctors has honed a blood test that reveals the origin of the RB1 gene mutation, a key player in a rare eye cancer known as ...

But the key, she felt lay in being prepared. “We have to be prepared because it is really a question of time before mutations develop in viruses. One more critical mutation in the H5N1 (avian ...

However, whether prenatal exposure to maternal chemotherapy treatment has a mutagenic impact on the fetal genome, remains unexplored. Therefore, we investigated mutation accumulation in hematopoietic ...

A company's financial ratios must be compared to those of its competitors and industry benchmarks to determine whether it is under- or overvalued. Remember, at this point, you're only trying to ...

The next step should be to test the gene mutation in animal or lab studies, he added, in order to determine how exactly it affects the brain and whether any existing medicines can counter the impact.

ABSTRACT: Telomeres have been a subject of genetic research since the 1930s. They play a crucial role in cancer biology, as they influence both cellular senescence and genomic stability. In cancer ...