Associated Papers
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
Kir6.1 and SUR2B in Cantú syndrome.
McClenaghan C et al.
American Journal of Physiology. Cell Physiology, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S10.xls › Sheet1
ATP-sensitive potassium channels in zebrafish cardiac and vascular smooth muscle.
Singareddy SS et al.
The Journal of Physiology, 2022
Genetic Discovery of ATP-Sensitive K+ Channels in Cardiovascular Diseases.
Huang Y et al.
Circulation. Arrhythmia and Electrophysiology, 2019
Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders.
Tessadori F et al.
Disease Models & Mechanisms, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
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
Cantú syndrome is caused by mutations in ABCC9.
van Bon BW et al.
American Journal of Human Genetics, 2012
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