Noel Edwards

Noel Edwards

UNVERIFIED PROFILE

Are you Noel Edwards?   Register this Author

Register author
Noel Edwards

Noel Edwards

Publications by authors named "Noel Edwards"

Are you Noel Edwards?   Register this Author

17Publications

439Reads

13Profile Views

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

Pediatr Nephrol 2019 Sep 11;34(9):1615-1623. Epub 2019 May 11.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00467-019-04267-xDOI Listing
September 2019

Trading amino acids at the aphid- symbiotic interface.

Proc Natl Acad Sci U S A 2019 Aug 23;116(32):16003-16011. Epub 2019 Jul 23.

Institute for Cell & Molecular Biosciences, Faculty of Medical Sciences, Newcastle University, NE2 4HH, Newcastle upon Tyne, United Kingdom;

View Article

Download full-text PDF

Source
http://www.pnas.org/lookup/doi/10.1073/pnas.1906223116
Publisher Site
http://dx.doi.org/10.1073/pnas.1906223116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6690024PMC
August 2019

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

F1000Res 2019 15;8:666. Epub 2019 May 15.

Renal Services, The Newcastle upon Tybe Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE7 7DN, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.12688/f1000research.19006.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6694456PMC
May 2019

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.

Am J Hum Genet 2018 10 27;103(4):612-620. Epub 2018 Sep 27.

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK; Renal Services, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE7 7DN, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.08.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174286PMC
October 2018

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

Cell Mol Life Sci 2018 03 23;75(5):921-938. Epub 2017 Oct 23.

Institute for Cell and Molecular Biosciences, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00018-017-2677-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5809530PMC
March 2018

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

Clin J Am Soc Nephrol 2015 Jul 11;10(7):1235-45. Epub 2015 May 11.

Academic and Children's Renal Unit, School of Clinical Sciences, University of Bristol, Bristol, United Kingdom;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2215/CJN.10981114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4491297PMC
July 2015

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

Clin Kidney J 2015 Feb 5;8(1):113-9. Epub 2014 Dec 5.

Institute of Genetic Medicine , International Centre for Life, Newcastle University , Newcastle upon Tyne , UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/ckj/sfu129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4310431PMC
February 2015

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

Physiol Rep 2013 Nov 19;1(6):e00160. Epub 2013 Nov 19.

Institute of Genetic Medicine, Newcastle University Central Parkway, Newcastle upon Tyne, NE1 3BZ, U.K. ; Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne, NE7 7DN, U.K.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/phy2.160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3871474PMC
November 2013

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

Biochim Biophys Acta 2011 Jan 4;1808(1):260-70. Epub 2010 Aug 4.

Epithelial Research Group, Institute for Cell & Molecular Biosciences, Faculty of Medical Sciences, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbamem.2010.07.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3000476PMC
January 2011