Publications by authors named "Richard N Sandford"

36Publications

Fumarate Metabolic Signature for the Detection of Reed Syndrome in Humans.

Clin Cancer Res 2020 01 21;26(2):391-396. Epub 2019 Oct 21.

Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Centre, Cambridge, United Kingdom.

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January 2020

New Ways of Finding New Genes for Old Diseases.

J Am Soc Nephrol 2019 11 10;30(11):2037-2039. Epub 2019 Oct 10.

Academic Department of Medical Genetics, University of Cambridge School of Clinical Medicine, ‎Cambridge, United Kingdom

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November 2019

Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia.

Eur J Hum Genet 2019 03 19;27(3):369-377. Epub 2018 Dec 19.

School of Clinical Medicine, University of Cambridge, Addenbrooke's Hospital, Hills Road, Cambridge, CB2 0SP, UK.

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March 2019

Pruritus Is Common and Undertreated in Patients With Primary Biliary Cholangitis in the United Kingdom.

Clin Gastroenterol Hepatol 2019 06 14;17(7):1379-1387.e3. Epub 2018 Dec 14.

Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom; National Institute for Health Research Newcastle Biomedical Research Centre, Newcastle University, Newcastle upon Tyne, United Kingdom.

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June 2019

Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis.

Gut 2018 08 4;67(8):1517-1524. Epub 2017 Aug 4.

Department of Gastroenterology and Hepatology, University of Groningen and University Medical Centre Groningen, Groningen, The Netherlands.

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August 2018

Patient Survey of current water Intake practices in autosomal dominant Polycystic kidney disease: the SIPs survey.

Clin Kidney J 2017 Jun 17;10(3):305-309. Epub 2017 Feb 17.

Division of Renal Medicine and Division of Experimental Medicine, University of Cambridge, Cambridge, UK.

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June 2017

Vascular Endothelial Growth Factor C for Polycystic Kidney Diseases.

J Am Soc Nephrol 2016 Jan 2;27(1):69-77. Epub 2015 Jun 2.

Developmental Biology and Cancer Programme, UCL Institute of Child Health, London, United Kingdom;

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January 2016

Pathogenic uromodulin mutations result in premature intracellular polymerization.

FEBS Lett 2015 Jan 29;589(1):89-93. Epub 2014 Nov 29.

Department of Pharmacology, University of Cambridge, Cambridge, United Kingdom.

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January 2015

A high-resolution structure of the EF-hand domain of human polycystin-2.

Protein Sci 2014 Sep 22;23(9):1301-8. Epub 2014 Jul 22.

MRC Laboratory of Molecular Biology, Hills Road, Cambridge, CB2 0QH, United Kingdom.

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September 2014

Implications of genome-wide association studies in novel therapeutics in primary biliary cirrhosis.

Eur J Immunol 2014 Apr 27;44(4):945-54. Epub 2014 Feb 27.

Division of Gastroenterology and Hepatology, Department of Medicine, Addenbrooke's Hospital, Cambridge, UK; Academic Department of Medical Genetics, University of Cambridge, Cambridge, UK.

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April 2014

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

Nat Genet 2013 Jun 21;45(6):670-5. Epub 2013 Apr 21.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.

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June 2013

Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2).

Hum Mol Genet 2013 May 5;22(9):1873-85. Epub 2013 Feb 5.

Department of Craniofacial Development and Stem Cell Research, and Comprehensive Biomedical Research Centre, Dental Institute, King’s College London, London, UK.

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May 2013

Sex and age are determinants of the clinical phenotype of primary biliary cirrhosis and response to ursodeoxycholic acid.

Gastroenterology 2013 Mar 12;144(3):560-569.e7; quiz e13-4. Epub 2012 Dec 12.

Division of Gastroenterology and Hepatology, Department of Medicine, University of Cambridge, Cambridge, United Kingdom.

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March 2013

Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic.

BMC Nephrol 2012 Aug 3;13:79. Epub 2012 Aug 3.

Academic Department of Medical Genetics, University of Cambridge School of Clinical Medicine, Cambridge, CB2 0SP, UK.

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August 2012

Somatic mosaicism and the phenotypic expression of COL2A1 mutations.

Am J Med Genet A 2012 May 11;158A(5):1204-7. Epub 2012 Apr 11.

Department of Ophthalmology, Addenbrooke's Hospital, Cambridge, UK.

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May 2012

Atomic force microscopy reveals the alternating subunit arrangement of the TRPP2-TRPV4 heterotetramer.

Biophys J 2010 Aug;99(3):790-7

Department of Pharmacology, University of Cambridge, Cambridge, United Kingdom.

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August 2010

Carboxy terminal tail of polycystin-1 regulates localization of TSC2 to repress mTOR.

PLoS One 2010 Feb 16;5(2):e9239. Epub 2010 Feb 16.

Department of Carcinogenesis, University of Texas M.D. Anderson Cancer Center, Smithville, Texas, United States of America.

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February 2010

Non-native interactions are critical for mechanical strength in PKD domains.

Structure 2009 Dec;17(12):1582-1590

Cambridge University Chemical Laboratory, MRC Centre for Protein Engineering, Lensfield Road, Cambridge, CB2 1EW, UK. Electronic address:

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December 2009

The remarkable mechanical strength of polycystin-1 supports a direct role in mechanotransduction.

J Mol Biol 2005 Jun;349(4):861-71

Cambridge University Chemical Laboratory, MRC Centre for Protein Engineering, Lensfield Road, Cambridge CB2 1EW, UK.

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June 2005