Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
38713862 (PubMed )
Supplement: baae031_supp.zip › suppl_data › Database_Orlic_Milacic_Reactome_of_Disease_Variants_SupplementaryTable1.docx
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.
Grange DK et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Glibenclamide and HMR1098 normalize Cantú syndrome-associated gain-of-function currents.
Houtman MJC et al.
Journal of Cellular and Molecular Medicine, 2019
Genetic Discovery of ATP-Sensitive K+ Channels in Cardiovascular Diseases.
Huang Y et al.
Circulation. Arrhythmia and Electrophysiology, 2019
Computational Identification of Novel Kir6 Channel Inhibitors.
Chen X et al.
Frontiers in Pharmacology, 2019
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.
Cooper PE et al.
The Journal of General Physiology, 2015
Dominant missense mutations in ABCC9 cause Cantú syndrome.
Harakalova M et al.
Nature Genetics, 2012
Select a paper to view details