Abstract Rare and common genetic variants contribute to the risk of atrial fibrillation (AF). Although ion channels were among the first AF candidate genes identified, rare loss-of-function variants ...

McGill University researchers have demonstrated that AMPA receptors (AMPARs), which mediate fast excitatory neurotransmission ...

Maze Therapeutics IPOs at $487M, targeting APOL1 Kidney Disease with MZE829 in Phase 2. Click here to read an analysis of MAZE stock now.

We studied five patients from two families from the United States of America. In family CSM1, two out of three siblings developed proximal muscle weakness and wasting while in their twenties or ...

Notably, several ‘missense’ mutations that affect the amino acid sequence of AMPAR subunits increase the ability of the resulting AMPARs to transport calcium ions. This finding suggests that ...

Collaboration Revenue: There was $2.3 million of collaboration revenue for the year ended December 31, 2024, as compared to no collaboration revenue for the year ended December 31, 2023. The increase ...

For additional information about the REWRITE study, visit ClinicalTrials.gov (NCT06677307). AATD is a genetic disorder most commonly caused by a single missense mutation (G-to-A) in the SERPINA1 gene.

Completed dosing of first two cohorts in Phase 1/2a REWRITE Clinical Study of KRRO-110 for Alpha-1 Antitrypsin Deficiency (AATD); Interim readout expected in the second half of 2025 -U.S. Food and ...

Pavel et al. analyzed a cohort of atrial fibrillation (AF) patients from the University of Illinois at Chicago, identifying TTN truncating variants (TTNtvs) and TTN missense variants (TTNmvs). They ...

The development of ocular signs of neurofibromatosis type 1 (NF1) is only significant in patients 7 years of age and younger.