A novel ABCC9 variant in a Greek family with Cantu syndrome affecting multiple generations highlights the functional role of the SUR2B NBD1

Keyphrases

• Functional Role 100%
• Cantú Syndrome 100%
• Multiple Generations 100%
• ABCC9 100%
• SUR2B 100%
• NBD1 100%
• Greek Family 100%
• Glycine 33%
• Autosomal Dominant 33%
• Membrane Potential 33%
• KATP Channel 33%
• Kir6.1 33%
• Stably Expressing 33%
• Hyperpolarized 33%
• Four Generations 33%
• ATP-sensitive Potassium Channel 33%
• Gain-of-function 33%
• Ion Channels 33%
• ATP-binding Cassette Transporter A1 (ABCA1) 33%
• System Status 33%
• Cardiovascular Complications 33%
• Outside-out Patch 33%
• Pore-forming 33%
• Facial Features 33%
• Nucleotide-binding Domain 33%
• Gain-of-function Variant 33%
• KCNJ8 33%
• SUR2 33%
• Hypertrichosis 33%
• Protein Ions 33%
• Signature Motif 33%
• Multi-organ Systems 33%

Biochemistry, Genetics and Molecular Biology

• ABCC9 100%
• Adenosine Triphosphate 66%
• Adenosine Triphosphate Sensitive Potassium Channel 66%
• Autosomal Dominant Inheritance 33%
• Membrane Potential 33%
• Binding Domain 33%
• ABC Transporter 33%
• KCNJ8 33%
• Inside Out Patch Clamp 33%
• Ion Channel 33%