Three novel missense mutations in the human lysosomal sialidase gene causing amino acid substitutions (P80L, W240R, and P316S) in the coding region were identified in two Japanese sialidosis patients.

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 ...

The information that is carried by the genetic code provides a set of "instructions" for "building" and "maintaining" a living organism. A useful analogy might be to think of the genetic code being ...

WD40 domains are ring-like β-propeller structures with seven blades that mediate protein–protein interactions. 18 Truncation or frameshift mutants of PALB2 that perturb all, or a portion, of the WD40 ...

In a recent preprint study posted to Research Square* and under consideration at the journal Human Genomics, researchers investigated the connecting link between viral genetic variability and clinical ...

TURKU, Finland – October 27, 2023 – The SynGAP Research Fund 501(c)(3) announced a $100,000 grant to researchers Pekka Postila and Olli Pentikäinen from the Institute of Biomedicine and InFLAMES ...

“Most diagnosed SYNGAP1-Related Disorder (SRD) patients have protein truncating variants (PTV) as opposed to missense variants. Virtually all PTVs are assumed to have the same impact at the molecular ...

Scientists have discovered an association between a variant in the synaptonemal complex protein, SYCE2, and pregnancy loss through the effects of recombination. An international collaboration led by ...

About 10 years ago, Žiga Avsec was a PhD physics student who found himself taking a crash course in genomics via a university module on machine learning. He was soon working in a lab that studied rare ...

Cytarabine Dose of 36 g/m2 Compared With 12 g/m2 Within First Consolidation in Acute Myeloid Leukemia: Results of Patients Enrolled Onto the Prospective Randomized AML96 Study With this report, we ...