Results Properties of de novo missense mutations in NDD patients We began by assessing the rates of de novo missense mutation in cases and controls. We identified a total of 5,807 de novo missense ...

The Nature Index 2026 Research Leaders reveal the leading institutions and countries/territories in the natural sciences, health sciences, applied sciences and social sciences, according to their ...

3.2 Determination of stability upon mutation and evolutionary conservation analysis The I-Mutant findings illustrated that all SNPs under investigation showed a decrease in structural stability ...

The QBRC mutation calling pipeline is a flexible and comprehensive pipeline for mutation calling that has glued together a lot of commonly used software and data processing steps for mutation calling.

Dental enamel is the hardest substance in the human body, protecting teeth from wear, temperature changes, and decay. However, enamel cannot regenerate once damaged. Inherited disorders, such as ...

A patient-derived KDF1 mutation was found to impair enamel formation by disrupting cell adhesion and Hippo-YAP signaling in ...

Institute of Pharmaceutical Chemistry, Goethe University Frankfurt, Max-von-Laue-Straße 9, 60438 Frankfurt, Germany Structural Genomics Consortium, Buchman Institute for Molecular Life Science (BMLS), ...

Objectives Treatment of rheumatoid arthritis (RA) relies on immunomodulatory drugs that can compromise immunity, inducing secondary immunodeficiency (SID). However, features of SID, such as ...