Noel Edwards

Central Parkway
Newcastle Upon Tyne, ENG NE13BZ, United Kingdom

Last Updated: 09/26/2026

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Found 17 publications

Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract.

Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract.

Journal: Genes

Published: August 06, 2022

Reshaping the Binding Pocket of the Neurotransmitter:Solute Symporter (NSS) Family Transporter SLC6A14 (ATB0,+) Selectively Reduces Access for Cationic Amino Acids and Derivatives.

Reshaping the Binding Pocket of the Neurotransmitter:Solute Symporter (NSS) Family Transporter SLC6A14 (ATB0,+) Selectively Reduces Access for Cationic Amino Acids and Derivatives.

Journal: Biomolecules

Published: July 02, 2022

Parallel Optimization of Potency and Pharmacokinetics Leading to the Discovery of a Pyrrole Carboxamide ERK5 Kinase Domain Inhibitor.

Parallel Optimization of Potency and Pharmacokinetics Leading to the Discovery of a Pyrrole Carboxamide ERK5 Kinase Domain Inhibitor.

Journal: Journal of medicinal chemistry

Published: April 25, 2022

Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia.

Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia.

Journal: F1000Research

Published: November 22, 2019

Trading amino acids at the aphid-Buchnera symbiotic interface.

Trading amino acids at the aphid-Buchnera symbiotic interface.

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

Published: July 25, 2019

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.

Journal: Human molecular genetics

Published: June 24, 2019

Identification of a novel orally bioavailable ERK5 inhibitor with selectivity over p38α and BRD4.

Identification of a novel orally bioavailable ERK5 inhibitor with selectivity over p38α and BRD4.

Journal: European journal of medicinal chemistry

Published: February 25, 2019

Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.

Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.

Journal: Pediatric nephrology (Berlin, Germany)

Published: October 06, 2018

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.

Journal: American journal of human genetics

Published: June 12, 2018

Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.

Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.

Journal: Physiological reports

Published: March 06, 2018

Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.

Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.

Journal: Journal of the American Society of Nephrology : JASN

Published: August 05, 2017

Resculpting the binding pocket of APC superfamily LeuT-fold amino acid transporters.

Resculpting the binding pocket of APC superfamily LeuT-fold amino acid transporters.

Journal: Cellular and molecular life sciences : CMLS

Published: July 13, 2017

Showing 1-12 of 17

Last Updated: 09/26/2026