Alfred L. George

Nephrology

3601 21st Ave S
Nashville, TN 37232

Last Updated: 09/26/2026

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Found 217 publications

An upstream open reading frame represses translation of the neuronal potassium channel KCNQ2.

An upstream open reading frame represses translation of the neuronal potassium channel KCNQ2.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: August 18, 2026

Classification models for KCNQ1 variants distinguish functional and trafficking effects to enhance pathogenicity interpretation.

Classification models for KCNQ1 variants distinguish functional and trafficking effects to enhance pathogenicity interpretation.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: July 21, 2026

Protein-enhanced small molecule disruptors of ordered membrane domains.

Protein-enhanced small molecule disruptors of ordered membrane domains.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: June 23, 2026

Excitatory Dysfunction and Phenotypic Rescue in a Human Neuronal Model of SCN2A-Related Disorders.

Excitatory Dysfunction and Phenotypic Rescue in a Human Neuronal Model of SCN2A-Related Disorders.

Journal: bioRxiv : the preprint server for biology

Published: June 04, 2026

Excitatory Dysfunction and Phenotypic Rescue in a Human Neuronal Model of SCN2A -Related Disorders.

Excitatory Dysfunction and Phenotypic Rescue in a Human Neuronal Model of SCN2A -Related Disorders.

Journal: bioRxiv : the preprint server for biology

Published: June 04, 2026

Combining automated patch clamp with optogenetics enables selective recording of DRG neurons subtypes.

Combining automated patch clamp with optogenetics enables selective recording of DRG neurons subtypes.

Journal: bioRxiv : the preprint server for biology

Published: April 10, 2026

An upstream open reading frame represses translation of the neuronal potassium channel KCNQ2.

An upstream open reading frame represses translation of the neuronal potassium channel KCNQ2.

Journal: bioRxiv : the preprint server for biology

Published: April 03, 2026

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Journal: medRxiv : the preprint server for health sciences

Published: March 13, 2026

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Journal: medRxiv : the preprint server for health sciences

Published: March 13, 2026

High throughput screening identifies a trafficking corrector for long-QT syndrome associated KCNQ1 variants.

High throughput screening identifies a trafficking corrector for long-QT syndrome associated KCNQ1 variants.

Journal: JCI insight

Published: January 08, 2026

Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders.

Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders.

Journal: Science translational medicine

Published: December 10, 2025

Structure-based scaffold hopping reveals strategies to overcome oncogenic KIT and PDGFRA mutation-driven drug-resistance in GIST.

Structure-based scaffold hopping reveals strategies to overcome oncogenic KIT and PDGFRA mutation-driven drug-resistance in GIST.

Journal: Nature communications

Published: December 08, 2025

Showing 1-12 of 217

Last Updated: 09/26/2026