Proximal tubular transcription factors in AKI: recent advances

le Piret, Sian E., Mallipattu, Sandeep K.
Foilsithe in Nephron (2020)

Epidemiology of Uromodulin-Associated Kidney Disease – Results from a Nation-Wide Survey

le Lhotta, Karl, Piret, Sian E., Kramar, Reinhard, Thakker, Rajesh V., Sunder-Plassmann, Gere, Kotanko, Peter
Foilsithe 2012

Association between Genotype and Phenotype in Uromodulin-Associated Kidney Disease

le Moskowitz, Jonathan L., Piret, Sian E., Lhotta, Karl, Kitzler, Thomas M., Tashman, Adam P., Velez, Erin, Thakker, Rajesh V., Kotanko, Peter
Foilsithe 2013

Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation

le Piret, Sian E., Gorvin, Caroline M., Trinh, Anne, Taylor, John, Lise, Stefano, Taylor, Jenny C., Ebeling, Peter R., Thakker, Rajesh V.
Foilsithe in Am J Med Genet A (2016)

A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress

le Piret, Sian E., Olinger, Eric, Reed, Anita A. C., Nesbit, M. Andrew, Hough, Tertius A., Bentley, Liz, Devuyst, Olivier, Cox, Roger D., Thakker, Rajesh V.
Foilsithe in Dis Model Mech (2017)

Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients

le Gorvin, Caroline M., Wilmer, Martijn J., Piret, Sian E., Harding, Brian, van den Heuvel, Lambertus P., Wrong, Oliver, Jat, Parmjit S., Lippiat, Jonathan D., Levtchenko, Elena N., Thakker, Rajesh V.
Foilsithe 2013

Mice with an N-Ethyl-N-Nitrosourea (ENU) Induced Tyr209Asn Mutation in Natriuretic Peptide Receptor 3 (NPR3) Provide a Model for Kyphosis Associated with Activation of the MAPK Sig...

le Esapa, Christopher T., Piret, Sian E., Nesbit, M. Andrew, Loh, Nellie Y., Thomas, Gethin, Croucher, Peter I., Brown, Matthew A., Brown, Steve D. M., Cox, Roger D., Thakker, Rajesh V.
Foilsithe in PLoS One (2016)

A Mouse Model of Early-Onset Renal Failure Due to a Xanthine Dehydrogenase Nonsense Mutation

le Piret, Sian E., Esapa, Christopher T., Gorvin, Caroline M., Head, Rosie, Loh, Nellie Y., Devuyst, Olivier, Thomas, Gethin, Brown, Steve D. M., Brown, Matthew, Croucher, Peter, Cox, Roger, Thakker, Rajesh V.
Foilsithe 2012

Identification of a G‐Protein Subunit‐α11 Gain‐of‐Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)

le Piret, Sian E, Gorvin, Caroline M, Pagnamenta, Alistair T, Howles, Sarah A, Cranston, Treena, Rust, Nigel, Nesbit, M Andrew, Glaser, Ben, Taylor, Jenny C, Buchs, Andreas E, Hannan, Fadil M, Thakker, Rajesh V
Foilsithe in J Bone Miner Res (2016)

Podocyte-Specific Loss of Krüppel-Like Factor 6 Increases Mitochondrial Injury in Diabetic Kidney Disease

le Horne, Sylvia J., Vasquez, Jessica M., Guo, Yiqing, Ly, Victoria, Piret, Sian E., Leonardo, Alexandra R., Ling, Jason, Revelo, Monica P., Bogenhagen, Daniel, Yang, Vincent W., He, John C., Mallipattu, Sandeep K.
Foilsithe in Diabetes (2018)

Genetic background influences tumour development in heterozygous Men1 knockout mice

le Lines, Kate E, Javid, Mahsa, Reed, Anita A C, Walls, Gerard V, Stevenson, Mark, Simon, Michelle, Kooblall, Kreepa G, Piret, Sian E, Christie, Paul T, Newey, Paul J, Mallon, Ann-Marie, Thakker, Rajesh V
Foilsithe in Endocr Connect (2020)

Krüppel-like factor 6–mediated loss of BCAA catabolism contributes to kidney injury in mice and humans

le Piret, Sian E., Guo, Yiqing, Attallah, Ahmed A., Horne, Sylvia J., Zollman, Amy, Owusu, Daniel, Henein, Justina, Sidorenko, Viktoriya S., Revelo, Monica P., Hato, Takashi, Ma’ayan, Avi, He, John Cijiang, Mallipattu, Sandeep K.
Foilsithe in Proc Natl Acad Sci U S A (2021)

Cinacalcet corrects hypercalcemia in mice with an inactivating Gα(11) mutation

le Howles, Sarah A., Hannan, Fadil M., Gorvin, Caroline M., Piret, Sian E., Paudyal, Anju, Stewart, Michelle, Hough, Tertius A., Nesbit, M. Andrew, Wells, Sara, Brown, Stephen D.M., Cox, Roger D., Thakker, Rajesh V.
Foilsithe in JCI Insight (2017)

Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism

le Gaynor, Katherine U, Grigorieva, Irina V, Mirczuk, Samantha M, Piret, Sian E, Kooblall, Kreepa G, Stevenson, Mark, Rizzoti, Karine, Bowl, Michael R, Nesbit, M Andrew, Christie, Paul T, Fraser, William D, Hough, Tertius, Whyte, Michael P, Lovell-Badge, Robin, Thakker, Rajesh V
Foilsithe in Endocr Connect (2020)

Gα(11) mutation in mice causes hypocalcemia rectifiable by calcilytic therapy

le Gorvin, Caroline M., Hannan, Fadil M., Howles, Sarah A., Babinsky, Valerie N., Piret, Sian E., Rogers, Angela, Freidin, Andrew J., Stewart, Michelle, Paudyal, Anju, Hough, Tertius A., Nesbit, M. Andrew, Wells, Sara, Vincent, Tonia L., Brown, Stephen D.M., Cox, Roger D., Thakker, Rajesh V.
Foilsithe in JCI Insight (2017)

An N‐Ethyl‐N‐Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion

le Esapa, Christopher T, Piret, Sian E, Nesbit, M Andrew, Thomas, Gethin P, Coulton, Leslie A, Gallagher, Orla M, Simon, Michelle M, Kumar, Saumya, Mallon, Ann‐Marie, Bellantuono, Ilaria, Brown, Matthew A, Croucher, Peter I, Potter, Paul K, Brown, Steve DM, Cox, Roger D, Thakker, Rajesh V
Foilsithe in JBMR Plus (2018)

Autosomal Dominant Hypercalciuria in a Mouse Model Due to a Mutation of the Epithelial Calcium Channel, TRPV5

le Loh, Nellie Y., Bentley, Liz, Dimke, Henrik, Verkaart, Sjoerd, Tammaro, Paolo, Gorvin, Caroline M., Stechman, Michael J., Ahmad, Bushra N., Hannan, Fadil M., Piret, Sian E., Evans, Holly, Bellantuono, Ilaria, Hough, Tertius A., Fraser, William D., Hoenderop, Joost G. J., Ashcroft, Frances M., Brown, Steve D. M., Bindels, René J. M., Cox, Roger D., Thakker, Rajesh V.
Foilsithe 2013

An N‐Ethyl‐N‐Nitrosourea (ENU)‐Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice

le Gorvin, Caroline M, Ahmad, Bushra N, Stechman, Michael J, Loh, Nellie Y, Hough, Tertius A, Leo, Paul, Marshall, Mhairi, Sethi, Siddharth, Bentley, Liz, Piret, Sian E, Reed, Anita, Jeyabalan, Jeshmi, Christie, Paul T, Wells, Sara, Simon, Michelle M, Mallon, Ann‐Marie, Schulz, Herbert, Huebner, Norbert, Brown, Matthew A, Cox, Roger D, Brown, Steve D, Thakker, Rajesh V
Foilsithe in J Bone Miner Res (2018)

Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis

le Gorvin, Caroline M, Loh, Nellie Y, Stechman, Michael J, Falcone, Sara, Hannan, Fadil M, Ahmad, Bushra N, Piret, Sian E, Reed, Anita AC, Jeyabalan, Jeshmi, Leo, Paul, Marshall, Mhairi, Sethi, Siddharth, Bass, Paul, Roberts, Ian, Sanderson, Jeremy, Wells, Sara, Hough, Tertius A, Bentley, Liz, Christie, Paul T, Simon, Michelle M, Mallon, Ann‐Marie, Schulz, Herbert, Cox, Roger D, Brown, Matthew A, Huebner, Norbert, Brown, Steve D, Thakker, Rajesh V
Foilsithe in J Bone Miner Res (2019)

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

le Taylor, Jenny C, Martin, Hilary C, Lise, Stefano, Broxholme, John, Cazier, Jean-Baptiste, Rimmer, Andy, Kanapin, Alexander, Lunter, Gerton, Fiddy, Simon, Allan, Chris, Aricescu, A. Radu, Attar, Moustafa, Babbs, Christian, Becq, Jennifer, Beeson, David, Bento, Celeste, Bignell, Patricia, Blair, Edward, Buckle, Veronica J, Bull, Katherine, Cais, Ondrej, Cario, Holger, Chapel, Helen, Copley, Richard R, Cornall, Richard, Craft, Jude, Dahan, Karin, Davenport, Emma E, Dendrou, Calliope, Devuyst, Olivier, Fenwick, Aimée L, Flint, Jonathan, Fugger, Lars, Gilbert, Rodney D, Goriely, Anne, Green, Angie, Greger, Ingo H., Grocock, Russell, Gruszczyk, Anja V, Hastings, Robert, Hatton, Edouard, Higgs, Doug, Hill, Adrian, Holmes, Chris, Howard, Malcolm, Hughes, Linda, Humburg, Peter, Johnson, David, Karpe, Fredrik, Kingsbury, Zoya, Kini, Usha, Knight, Julian C, Krohn, Jonathan, Lamble, Sarah, Langman, Craig, Lonie, Lorne, Luck, Joshua, McCarthy, Davis, McGowan, Simon J, McMullin, Mary Frances, Miller, Kerry A, Murray, Lisa, Németh, Andrea H, Nesbit, M Andrew, Nutt, David, Ormondroyd, Elizabeth, Oturai, Annette Bang, Pagnamenta, Alistair, Patel, Smita Y, Percy, Melanie, Petousi, Nayia, Piazza, Paolo, Piret, Sian E, Polanco-Echeverry, Guadalupe, Popitsch, Niko, Powrie, Fiona, Pugh, Chris, Quek, Lynn, Robbins, Peter A, Robson, Kathryn, Russo, Alexandra, Sahgal, Natasha, van Schouwenburg, Pauline A, Schuh, Anna, Silverman, Earl, Simmons, Alison, Sørensen, Per Soelberg, Sweeney, Elizabeth, Taylor, John, Thakker, Rajesh V, Tomlinson, Ian, Trebes, Amy, Twigg, Stephen RF, Uhlig, Holm H, Vyas, Paresh, Vyse, Tim, Wall, Steven A, Watkins, Hugh, Whyte, Michael P, Witty, Lorna, Wright, Ben, Yau, Chris, Buck, David, Humphray, Sean, Ratcliffe, Peter J, Bell, John I, Wilkie, Andrew OM, Bentley, David, Donnelly, Peter, McVean, Gilean
Foilsithe in Nat Genet (2015)