Pituitary adenoma risk factors included prior hyperparathyroidism, female sex, and non-missense pathogenic variants among patients with MEN1.

With its 2,214 amino acids and its dynamic lifestyle as an endosomal recycling receptor, SORL1 is rife with opportunities for mutations that could thwart its function. The size and splendor of this ...

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 ...

“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 ...

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 ...

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 ...

Researchers at Google DeepMind claim to have built an AI model that can pinpoint which genetic mutations are likely to cause disease, according to a new study in the journal Science. The new model, ...

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 ...

If future studies confirm the rescued receptors work normally, the study offers a new roadmap for rare disease drug development.

In a recent article published in the journal Science, researchers presented AlphaMissense, a highly accurate protein structuring model adapted from AlphaFold (AF) to predict and characterize human ...