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KCNQ1 Potassium Channel

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Predicting the functional impact of KCNQ1 variants with artificial neural networks.

PLoS computational biology
Recent advances in experimental and computational protein structure determination have provided access to high-quality structures for most human proteins and mutants thereof. However, linking changes in structure in protein mutants to functional impa...

Prediction of Kv11.1 potassium channel PAS-domain variants trafficking via machine learning.

Journal of molecular and cellular cardiology
Congenital long QT syndrome (LQTS) is characterized by a prolonged QT-interval on an electrocardiogram (ECG). An abnormal prolongation in the QT-interval increases the risk for fatal arrhythmias. Genetic variants in several different cardiac ion chan...

Identification of KCNQ1 as a diagnostic biomarker related to endoplasmic reticulum stress for intervertebral disc degeneration based on machine learning and experimental evidence.

Medicine
Intervertebral disc degeneration (IDD) is a primary cause of low back pain and disability. Cellular senescence and apoptosis due to endoplasmic reticulum stress (ERS) are key in IDD pathology. Identifying biomarkers linked to ERS in IDD is crucial fo...