Conclusions We have identified mutations in PLA2G4A as a cause of CMUSE in two affected siblings. Further studies are needed to determine if mutations in this gene are also responsible for disease of ...

These losses, called deletion mutations, gradually erode the function of a cell component called the mitochondrion. Muscle cells lacking a sufficient number of functional mitochondria to support ...

Each three base sequence is associated with a particular amino acid. Proteins, in turn, are formed by chains of amino acids. Simplistically, mutations may involve the substitution, deletion, addition, ...

Imprecise repair of the double strand break can result in insertion or deletion mutations, while repair pathways can be engineered to introduce specific point mutations or insertions. Mathematical ...

Driver mutations are the pathophysiological hallmark of the disease, but the role of mutation clearance after transplantation is unclear. In patients with myelofibrosis, clearance of driver ...

Figure 3 Detection of mutations by the Sanger sequencing method. PCR products flanking target sites were amplified from putative homozygous edited T 2 plants, and then directly sequenced. Sequence ...

Digenic inheritance (DI) is the simplest form of inheritance for genetically complex diseases. By contrast with the thousands of reports that mutations in single genes cause human diseases, there are ...

As part of global pandemic preparedness efforts, researchers have long studied H5N1 to track natural genetic mutations and assess their potential impact on transmissibility. Influenza viruses attach ...

Genetic sequences of H5N1 bird flu viruses collected from a person in Louisiana who became severely ill show signs of development of several mutations thought to affect the virus’ ability to ...