Noel Edwards

发表

OP-NDTJ170077 1..6

R. Sandford, O. Devuyst, J. Sayer, 2017 .

Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations

V. Tasic, F. Hildebrandt, J. Sayer, 2018, Physiological reports.

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

D. Thwaites, A. K. Watson, C. Anderson, 2022, Biomolecules.

Amino acid derivatives are substrates or non-transported inhibitors of the amino acid transporter PAT2 (slc36a2)

D. Thwaites, V. Ganapathy, M. Jevons, 2011, Biochimica et biophysica acta.

Clinical and genetic analysis of patients with cystinuria in the United Kingdom.

D. Thwaites, J. Sayer, G. Welsh, 2015, Clinical journal of the American Society of Nephrology : CJASN.

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

Robert W. Taylor, P. Chinnery, R. Horvath, 2019, Human molecular genetics.

Identification of compound heterozygous KCNJ1 mutations (encoding ROMK) in a kindred with Bartter's syndrome and a functional analysis of their pathogenicity

P. Welling, J. Sayer, K. Wood, 2013, Physiological reports.

A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families

E. Faqeih, J. Sayer, B. Meyer, 2013, Journal of Human Genetics.

Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel

J. Sayer, W. Kurdi, B. Meyer, 2016, Journal of Medical Genetics.

Trading amino acids at the aphid–Buchnera symbiotic interface

D. Thwaites, A. Wilson, Daniel R. G. Price, 2019, Proceedings of the National Academy of Sciences.

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition

E. Molinari, F. Alkuraya, J. Sayer, 2018, American journal of human genetics.

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

J. Sayer, M. Al-Hamed, F. Imtiaz, 2022, Genes.

Transport of the Photodynamic Therapy Agent 5-Aminolevulinic Acid by Distinct H+-Coupled Nutrient Carriers Coexpressed in the Small Intestine

D. Thwaites, V. Ganapathy, M. Thangaraju, 2010, Journal of Pharmacology and Experimental Therapeutics.

Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.

D. Nilsson, S. Enerbäck, J. Sayer, 2017, Journal of the American Society of Nephrology : JASN.

A novel LMX1B mutation in a family with end-stage renal disease of ‘unknown cause’

Yaobo Xu, M. Santibanez-Koref, D. Thwaites, 2014, Clinical kidney journal.

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

D. Thwaites, T. Embley, R. Hall, 2017, Cellular and Molecular Life Sciences.

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

J. Sayer, Maryam Al Badi, J. Willows, 2019, F1000Research.

Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia

J. Sayer, Aisha Al Sinani, Maryam Al Badi, 2019, F1000Research.

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

J. Sayer, W. Kurdi, N. Al-Numair, 2019, Pediatric Nephrology.

A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion

R. Sandford, O. Devuyst, J. Sayer, 2017, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia

J. Sayer, Maryam Al Badi, J. Willows, 2019, F1000Research.

Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.

D. Nilsson, S. Enerbäck, J. Sayer, 2017, Journal of the American Society of Nephrology.