Publications by Dr Noel Edwards - ePrints

Browsing publications by Dr Noel Edwards.

Newcastle Authors	Title	Year
Professor John Sayer Dr Noel Edwards	Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract	2022
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 Inhibitor	2022
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 (ATB^0,+) Selectively Reduces Access for Cationic Amino Acids and Derivatives	2022
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 families	2019
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 melanoma	2019
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 BRD4	2019
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 disease	2019
Dr Noel Edwards Dr Catriona Anderson Dr Mike Althaus Professor David Thwaites	Trading amino acids at the aphid–Buchnera symbiotic interface	2019
Sumaya Alkanderi Dr Elisa Molinari Veronica Sammut Dr Simon Ramsbottom Dr Shalabh Srivastava et al.	ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition	2018
Dr Noel Edwards Sumaya Alkanderi Professor John Sayer	Acidosis and Deafness in Patients with Recessive Mutations in FOXI1	2018
Dr Amy Fearn Ben Allison Dr Sarah Rice Dr Noel Edwards Professor John Sayer et al.	Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations	2018
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 transporters	2018
Dr Noel Edwards Dr Simon Ramsbottom Professor John Sayer	A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion	2017
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 panel	2016
Dr Noel Edwards Professor John Sayer	Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations	2016
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 Patients	2015
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 UK	2015
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 b^0,+	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 pathogenicity	2013
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 family	2013
Dr Noel Edwards David Thomas Professor John Sayer	Clinical analysis of a north-east England cystinuria cohort	2012