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Browsing publications by Dr Noel Edwards.

Newcastle AuthorsTitleYearFull text
Professor John Sayer
Dr Noel Edwards
Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract2022
Duncan Miller
Tristan Reuillon
Dr Lauren Molyneux
Dr Tim Blackburn
Dr Noel Edwards
et al.
Parallel Optimization of Potency and Pharmacokinetics Leading to the Discovery of a Pyrrole Carboxamide ERK5 Kinase Domain Inhibitor2022
Dr Catriona Anderson
Dr Noel Edwards
Andrew Watson
Dr Mike Althaus
Professor David Thwaites
et al.
Reshaping the Binding Pocket of the Neurotransmitter:Solute Symporter (NSS) Family Transporter SLC6A14 (ATB0,+) Selectively Reduces Access for Cationic Amino Acids and Derivatives2022
Mohamed Al-Hamed
Dr Sarah Rice
Dr Noel Edwards
Professor John Sayer
Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families2019
Dr Jamie Willows
Dr Noel Edwards
Dr Sarah Rice
Professor John Sayer
Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia: a case report 2019
Dr Stamatina Verykiou
Michael Alexander
Dr Noel Edwards
Professor Ruth Plummer
Dr Bill Chaudhry
et al.
Harnessing autophagy to overcome MEK-inhibitor induced resistance in metastatic melanoma2019
Stephanie Myers
Duncan Miller
Dr Lauren Molyneux
Dr Mercedeh Arasta
Dr Ruth Bawn
et al.
Identification of a novel orally bioavailable ERK5 inhibitor with selectivity over p38α and BRD42019
Dr Monika Olahova
Jack Collier
Dr Charlotte Alston
Dr Noel Edwards
Dr Langping He
et al.
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease2019
Dr Noel Edwards
Dr Catriona Anderson
Dr Mike Althaus
Professor David Thwaites
Trading amino acids at the aphid–Buchnera symbiotic interface2019
Sumaya Alkanderi
Dr Elisa Molinari
Veronica Sammut
Dr Simon Ramsbottom
Dr Shalabh Srivastava
et al.
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition2018
Dr Noel Edwards
Sumaya Alkanderi
Professor John Sayer
Acidosis and Deafness in Patients with Recessive Mutations in FOXI12018
Dr Amy Fearn
Ben Allison
Dr Sarah Rice
Dr Noel Edwards
Professor John Sayer
et al.
Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations2018
Dr Noel Edwards
Dr Catriona Anderson
Nichola Conlon
Andrew Watson
Dr Tim Cheek
et al.
Resculpting the binding pocket of APC superfamily LeuT-fold amino acid transporters2018
Dr Noel Edwards
Dr Simon Ramsbottom
Professor John Sayer
A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion2017
Dr Noel Edwards
Professor John Sayer
Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel2016
Dr Noel Edwards
Professor John Sayer
Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations2016
Dr Noel Edwards
Dr Sarah Rice
Dr Ann Marie Hynes
Dr Shalabh Srivastava
Dr Iain Moore
et al.
A novel LMX1B mutation in a family with end-stage renal disease of ‘unknown cause’2015
Dr Sarah Rice
Dr Noel Edwards
Dr Charlie Tomson
Professor David Thwaites
Professor John Sayer
et al.
Clinical and Genetic Analysis of a Cohort of English Cystinuria Patients2015
Dr Sarah Rice
Dr Noel Edwards
Dr Alice Hartley
Professor David Thwaites
Professor John Sayer
et al.
Clinical and genetic analysis of patients with cystinuria in the UK2015
Dr Sarah Rice
Dr Noel Edwards
Professor John Sayer
Professor David Thwaites
The Effect of a Novel rBAT Mutation on the Expression and Function of System b(o,+)2015
Dr Sarah Rice
Dr Noel Edwards
Professor John Sayer
Professor David Thwaites
The novel rBAT mutation Y579D and activity of the amino acid transporter System b0,+2015
Dr Shalabh Srivastava
Dr Noel Edwards
Dr Ann Marie Hynes
Dr Katrina Wood
Mohamed Al-Hamed
et al.
Identification of compound heterozygous KCNJ1 mutations (Encoding ROMK) in a kindred with bartter’s syndrome and a functional analysis of their pathogenicity2013
Nichola Conlon
Dr Noel Edwards
Dr Tim Cheek
Professor David Thwaites
Rheogenic amino acid transport by Drosophila CG4991 of the Amino Acid Auxin Permease (AAAP) transporter family2013
Dr Noel Edwards
David Thomas
Professor John Sayer
Clinical analysis of a north-east England cystinuria cohort2012