Publications by authors named "Noel Edwards"

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Reshaping the Binding Pocket of the Neurotransmitter:Solute Symporter (NSS) Family Transporter SLC6A14 (ATB) Selectively Reduces Access for Cationic Amino Acids and Derivatives.
Catriona M H Anderson, Noel Edwards, Andrew K Watson, Mike Althaus, David T Thwaites

Biomolecules· October 2022

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Missense Variants in and Are Associated with Congenital Anomalies of the Kidney and Urinary Tract.
Mohamed H Al-Hamed, John A Sayer, Nada Alsahan, Noel Edwards, Wafaa Ali

Genes (Basel)· September 2022

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Parallel Optimization of Potency and Pharmacokinetics Leading to the Discovery of a Pyrrole Carboxamide ERK5 Kinase Domain Inhibitor.
Duncan C Miller, Tristan Reuillon, Lauren Molyneux, Timothy Blackburn, Simon J Cook, Noel Edwards

J Med Chem· May 2022

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Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia.
Jamie Willows, Maryam Al Badi, Chloe Richardson, Aisha Al Sinani, Noel Edwards

F1000Res· June 2020

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Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.
Monika Oláhová, Camilla Ceccatelli Berti, Jack J Collier, Charlotte L Alston, Elisabeth Jameson, Noel Edwards

Hum Mol Genet· November 2019

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Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.
Mohamed H Al-Hamed, Nada Alsahan, Sarah J Rice, Noel Edwards, Eman Nooreddeen

Pediatr Nephrol· September 2019

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Identification of a novel orally bioavailable ERK5 inhibitor with selectivity over p38α and BRD4.
Stephanie M Myers, Duncan C Miller, Lauren Molyneux, Mercedes Arasta, Ruth H Bawn, Noel Edwards

Eur J Med Chem· September 2019

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Trading amino acids at the aphid- symbiotic interface.
Honglin Feng, Noel Edwards, Catriona M H Anderson, Mike Althaus, Rebecca P Duncan

Proc Natl Acad Sci U S A· August 2019

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ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.
Sumaya Alkanderi, Elisa Molinari, Ranad Shaheen, Yasmin Elmaghloob, Louise A Stephen, Noel Edwards

Am J Hum Genet· October 2018

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Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.
Amy Fearn, Benjamin Allison, Sarah J Rice, Noel Edwards, Jan Halbritter

Physiol Rep· June 2018

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Resculpting the binding pocket of APC superfamily LeuT-fold amino acid transporters.
Noel Edwards, Catriona M H Anderson, Nichola J Conlon, Andrew K Watson, Rebecca J Hall

Cell Mol Life Sci· March 2018

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Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.
Sven Enerbäck, Daniel Nilsson, Noel Edwards, Mikael Heglind, Sumaya Alkanderi

J Am Soc Nephrol· March 2018

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A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion.
Noel Edwards, Eric Olinger, Jennifer Adam, Michael Kelly, Guglielmo Schiano

Nephrol Dial Transplant· December 2017

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Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.
Mohamed H Al-Hamed, Wesam Kurdi, Nada Alsahan, Zainab Alabdullah, Rania Abudraz, Noel Edwards

J Med Genet· May 2016

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Clinical and genetic analysis of patients with cystinuria in the United Kingdom.
Hannah L Rhodes, Laura Yarram-Smith, Sarah J Rice, Ayla Tabaksert, Noel Edwards

Clin J Am Soc Nephrol· July 2015

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A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.
Noel Edwards, Sarah J Rice, Shreya Raman, Ann Marie Hynes, Shalabh Srivastava

Clin Kidney J· February 2015

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Identification of compound heterozygous KCNJ1 mutations (encoding ROMK) in a kindred with Bartter's syndrome and a functional analysis of their pathogenicity.
Shalabh Srivastava, Dimin Li, Noel Edwards, Ann-M Hynes, Katrina Wood

Physiol Rep· November 2013

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A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.
Mohamed H Al-Hamed, Essam Al-Sabban, Hamad Al-Mojalli, Naffaa Al-Harbi, Eissa Faqeih, Noel Edwards

J Hum Genet· July 2013

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Amino acid derivatives are substrates or non-transported inhibitors of the amino acid transporter PAT2 (slc36a2).
Noel Edwards, Catriona M H Anderson, Kelly M Gatfield, Mark P Jevons, Vadivel Ganapathy

Biochim Biophys Acta· January 2011

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Transport of the photodynamic therapy agent 5-aminolevulinic acid by distinct H+-coupled nutrient carriers coexpressed in the small intestine.
Catriona M H Anderson, Mark Jevons, Muthusamy Thangaraju, Noel Edwards, Nichola J Conlon

J Pharmacol Exp Ther· January 2010

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