New Ways of Finding New Genes for Old Diseases

par Sandford, Richard N.
Publié dans J Am Soc Nephrol (2019)

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

par Carbone, Marco, Lleo, Ana, Sandford, Richard N., Invernizzi, Pietro
Publié 2014

Carboxy Terminal Tail of Polycystin-1 Regulates Localization of TSC2 to Repress mTOR

par Dere, Ruhee, Wilson, Patricia D., Sandford, Richard N., Walker, Cheryl Lyn
Publié 2010

Atomic Force Microscopy Reveals the Alternating Subunit Arrangement of the TRPP2-TRPV4 Heterotetramer

par Stewart, Andrew P., Smith, Graham D., Sandford, Richard N., Edwardson, J. Michael
Publié 2010

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

par Allen, Mark D, Qamar, Seema, Vadivelu, Murali K, Sandford, Richard N, Bycroft, Mark
Publié dans Protein Sci (2014)

A renal genetics clinic – model for our times

par Robinson, Caroline M, Sandford, Richard N, Wiseman, Oliver, Sarker, Anita, Frankl, Fiona E Karet
Publié dans Clin Med (Lond) (2019)

Non-Native Interactions Are Critical for Mechanical Strength in PKD Domains

par Forman, Julia R., Yew, Zu Thur, Qamar, Seema, Sandford, Richard N., Paci, Emanuele, Clarke, Jane
Publié 2009

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

par El-Damanawi, Ragada, Harris, Tess, Sandford, Richard N., Karet Frankl, Fiona E., Hiemstra, Thomas F.
Publié dans Clin Kidney J (2017)

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

par Robinson, Caroline, Hiemstra, Thomas F, Spencer, Deborah, Waller, Sarah, Daboo, Laura, Karet Frankl, Fiona E, Sandford, Richard N
Publié 2012

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

par Nixon, Thomas R. W., Richards, Allan, Towns, Laura K., Fuller, Gavin, Abbs, Stephen, Alexander, Philip, McNinch, Annie, Sandford, Richard N., Snead, Martin P.
Publié dans Eur J Hum Genet (2018)

Characterization of a Recurrent In-frame UMOD Indel Mutation Causing Late-onset Autosomal Dominant End-Stage Renal Failure

par Smith, Graham D., Robinson, Caroline, Stewart, Andrew P., Edwards, Emily L., Karet, Hannah I., Norden, Anthony G. W., Sandford, Richard N., Karet Frankl, Fiona E.
Publié 2011

Vascular Endothelial Growth Factor C for Polycystic Kidney Diseases

par Huang, Jennifer L., Woolf, Adrian S., Kolatsi-Joannou, Maria, Baluk, Peter, Sandford, Richard N., Peters, Dorien J.M., McDonald, Donald M., Price, Karen L., Winyard, Paul J.D., Long, David A.
Publié dans J Am Soc Nephrol (2016)

Amino acid residues in five separate HLA genes can explain most of the known associations between the MHC and primary biliary cholangitis

par Darlay, Rebecca, Ayers, Kristin L., Mells, George F., Hall, Lynsey S., Liu, Jimmy Z., Almarri, Mohamed A., Alexander, Graeme J., Jones, David E., Sandford, Richard N., Anderson, Carl A., Cordell, Heather J.
Publié dans PLoS Genet (2018)

Randomised controlled trial of high versus ad libitum water intake in patients with autosomal dominant polycystic kidney disease: rationale and design of the DRINK feasibility tria...

par El-Damanawi, Ragada, Lee, Michael, Harris, Tess, Mader, Laura B, Bond, Simon, Pavey, Holly, Sandford, Richard N, Wilkinson, Ian B, Burrows, Alison, Woznowski, Przemyslaw, Ben-Shlomo, Yoav, Karet Frankl, Fiona E, Hiemstra, Thomas F
Publié dans BMJ Open (2018)

Receptor protein tyrosine phosphatases are novel components of a polycystin complex

par Boucher, Catherine A., Ward, Heather H., Case, Ruth L., Thurston, Katie S., Li, Xiaohong, Needham, Andrew, Romero, Elsa, Hyink, Deborah, Qamar, Seema, Roitbak, Tamara, Powell, Samantha, Ward, Christopher, Wilson, Patricia D., Wandinger-Ness, Angela, Sandford, Richard N.
Publié 2010

The impact of liver transplantation on the phenotype of primary biliary cirrhosis patients in the UK-PBC cohort

par Pells, Greta, Mells, George F., Carbone, Marco, Newton, Julia L., Bathgate, Andrew J., Burroughs, Andrew K., Heneghan, Michael A., Neuberger, James M., Day, Darren B., Ducker, Samantha J., Sandford, Richard N., Alexander, Graeme J., Jones, David E.J.
Publié dans J Hepatol (2013)

Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis

par Liu, Jimmy Z, Almarri, Mohamed A, Gaffney, Daniel J, Mells, George F, Jostins, Luke, Cordell, Heather J, Ducker, Samantha J, Day, Darren B, Heneghan, Michael A, Neuberger, James M., Donaldson, Peter T, Bathgate, Andrew J, Burroughs, Andrew, Davies, Mervyn H, Jones, David E, Alexander, Graeme J, Barrett, Jeffrey C, Sandford, Richard N, Anderson, Carl A
Publié 2012

Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis

par Mells, George F., Floyd, James A.B., Morley, Katherine I., Cordell, Heather J., Franklin, Christopher S., Shin, So-Youn, Heneghan, Michael A., Neuberger, James M., Donaldson, Peter T., Day, Darren B., Ducker, Samantha J., Muriithi, Agnes W., Wheater, Elizabeth F., Hammond, Christopher J., Dawwas, Muhammad F., Jones, David E., Peltonen, Leena, Alexander, Graeme J., Sandford, Richard N., Anderson, Carl A.
Publié 2011

The UK-PBC Risk Scores: Derivation and Validation of a Scoring System for Long-Term Prediction of End-Stage Liver Disease in Primary Biliary Cholangitis

par Carbone, Marco, Sharp, Stephen J., Flack, Steve, Paximadas, Dimitrios, Spiess, Kelly, Adgey, Carolyn, Griffiths, Laura, Lim, Reyna, Trembling, Paul, Williamson, Kate, Wareham, Nick J., Aldersley, Mark, Bathgate, Andrew, Burroughs, Andrew K., Heneghan, Michael A., Neuberger, James M., Thorburn, Douglas, Hirschfield, Gideon M., Cordell, Heather J., Alexander, Graeme J., Jones, David E.J., Sandford, Richard N., Mells, George F.
Publié dans Hepatology (2016)

International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways

par Cordell, Heather J., Han, Younghun, Mells, George F., Li, Yafang, Hirschfield, Gideon M., Greene, Casey S., Xie, Gang, Juran, Brian D., Zhu, Dakai, Qian, David C., Floyd, James A. B., Morley, Katherine I., Prati, Daniele, Lleo, Ana, Cusi, Daniele, Gershwin, M. Eric, Anderson, Carl A., Lazaridis, Konstantinos N., Invernizzi, Pietro, Seldin, Michael F., Sandford, Richard N., Amos, Christopher I., Siminovitch, Katherine A.
Publié dans Nat Commun (2015)