Prospective observational data informs understanding and future management of Lynch syndrome: insights from the Prospective Lynch Syndrome Database (PLSD)

por Seppälä, Toni T., Dominguez-Valentin, Mev, Sampson, Julian R., Møller, Pål
Publicado 2020

Efficacy of Dual Inhibition of Glycolysis and Glutaminolysis for Therapy of Renal Lesions in Tsc2(+/−) Mice()

por Jones, Ashley T., Narov, Kalin, Yang, Jian, Sampson, Julian R., Shen, Ming Hong
Publicado 2019

mTORC1 drives HIF-1α and VEGF-A signalling via multiple mechanisms involving 4E-BP1, S6K1 and STAT3

por Dodd, Kayleigh M., Yang, Jian, Shen, Ming Hong, Sampson, Julian R., Tee, Andrew R.
Publicado 2014

The dual PI3K/mTOR inhibitor GSK2126458 is effective for treating solid renal tumours in Tsc2(+/-) mice through suppression of cell proliferation and induction of apoptosis

por Narov, Kalin, Yang, Jian, Samsel, Paulina, Jones, Ashley, Sampson, Julian R, Shen, Ming Hong
Publicado 2017

Assessment of Response of Kidney Tumors to Rapamycin and Atorvastatin in Tsc1(+/−) Mice

por Shen, Ming Hong, Samsel, Paulina, Shen, Louise L., Narov, Kalin, Yang, Jian, Sampson, Julian R.
Publicado 2017

Allosteric and ATP-Competitive Inhibitors of mTOR Effectively Suppress Tumor Progression-Associated Epithelial-Mesenchymal Transition in the Kidneys of Tsc2(+/−) Mice

por Jones, Ashley T., Yang, Jian, Narov, Kalin, Henske, Elizabeth P, Sampson, Julian R., Shen, Ming Hong
Publicado 2019

Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH pol...

por Bai, Haibo, Jones, Siân, Guan, Xin, Wilson, Teresa M., Sampson, Julian R., Cheadle, Jeremy P., Lu, A-Lien
Publicado 2005

Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2

por Kwiatkowski, David J, Palmer, Michael R, Jozwiak, Sergiusz, Bissler, John, Franz, David, Segal, Scott, Chen, David, Sampson, Julian R
Publicado 2015

Combination of Everolimus with Sorafenib for Solid Renal Tumors in Tsc2(+/−) Mice Is Superior to Everolimus Alone()

por Yang, Jian, Samsel, Paulina A., Narov, Kalin, Jones, Ashley, Gallacher, Daniel, Gallacher, John, Sampson, Julian R., Shen, Ming Hong
Publicado 2017

Secular changes in severity of intellectual disability in tuberous sclerosis complex: A reflection of improved identification and treatment of epileptic spasms?

por Tye, Charlotte, Thomas, Laura E., Sampson, Julian R., Lewis, Julia, O'Callaghan, Finbar, Yates, John R. W., Bolton, Patrick F.
Publicado 2018

Adenoma development in familial adenomatous polyposis and MUTYH‐associated polyposis: somatic landscape and driver genes

por Rashid, Mamunur, Fischer, Andrej, Wilson, Cathy H, Tiffen, Jessamy, Rust, Alistair G, Stevens, Philip, Idziaszczyk, Shelley, Maynard, Julie, Williams, Geraint T, Mustonen, Ville, Sampson, Julian R, Adams, David J
Publicado 2015

Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation

por Ragoussis, Vassilis, Pagnamenta, Alistair T, Haines, Rebecca L, Giacopuzzi, Edoardo, McClatchey, Martin A, Sampson, Julian R, Suri, Mohnish, Gardham, Alice, Cobben, Jan-Maarten, Osio, Deborah, Fry, Andrew E, Taylor, Jenny C
Publicado 2022

Survival of MUTYH-Associated Polyposis Patients With Colorectal Cancer and Matched Control Colorectal Cancer Patients

por Nielsen, Maartje, van Steenbergen, Liza N., Jones, Natalie, Vogt, Stefanie, Vasen, Hans F. A., Morreau, Hans, Aretz, Stefan, Sampson, Julian R., Dekkers, Olaf M., Janssen-Heijnen, Maryska L. G., Hes, Frederik J.
Publicado 2010

Correction: Loss of tuberous sclerosis complex 2 sensitizes tumors to nelfinavir–bortezomib therapy to intensify endoplasmic reticulum stress-induced cell death

por Johnson, Charlotte E., Dunlop, Elaine A., Seifan, Sara, McCann, Henry D., Hay, Trevor, Parfitt, Geraint J., Jones, Ashley T., Giles, Peter J., Shen, Ming H., Sampson, Julian R., Errington, Rachel J., Davies, D. Mark, Tee, Andrew R.
Publicado 2019

The use of everolimus in the treatment of neurocognitive problems in tuberous sclerosis (TRON): study protocol for a randomised controlled trial

por Randell, Elizabeth, McNamara, Rachel, Davies, D. Mark, Owen-Jones, Eleri, Kirby, Nigel, Angel, Lianna, Drew, Cheney, Cannings-John, Rebecca, Smalley, Michelle, Saxena, Anurag, McDermott, Emer, Stockwell, Laura, de Vries, Petrus J., Hood, Kerry, Sampson, Julian R.
Publicado 2016

Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair

por Sherwood, Kitty, Ward, Joseph C., Soriano, Ignacio, Martin, Lynn, Campbell, Archie, Rahbari, Raheleh, Kafetzopoulos, Ioannis, Sproul, Duncan, Green, Andrew, Sampson, Julian R., Donaldson, Alan, Ong, Kai-Ren, Heinimann, Karl, Nielsen, Maartje, Thomas, Huw, Latchford, Andrew, Palles, Claire, Tomlinson, Ian
Publicado 2023

Author Correction: Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair

por Sherwood, Kitty, Ward, Joseph C., Soriano, Ignacio, Martin, Lynn, Campbell, Archie, Rahbari, Raheleh, Kafetzopoulos, Ioannis, Sproul, Duncan, Green, Andrew, Sampson, Julian R., Donaldson, Alan, Ong, Kai-Ren, Heinimann, Karl, Nielsen, Maartje, Thomas, Huw, Latchford, Andrew, Palles, Claire, Tomlinson, Ian
Publicado 2023

Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care

por Annear, Nicholas M. P., Appleton, Richard E., Bassi, Zahabiyah, Bhatt, Rupesh, Bolton, Patrick F., Crawford, Pamela, Crowe, Alex, Tossi, Maureen, Elmslie, Frances, Finlay, Eric, Gale, Daniel P., Henderson, Alex, Jones, Elizabeth A., Johnson, Simon R., Joss, Shelagh, Kerecuk, Larissa, Lipkin, Graham, Morrison, Patrick J., O'Callaghan, Finbar J., Cadwgan, Jill, Ong, Albert C. M., Sampson, Julian R., Shepherd, Charles, Kingswood, J. Chris
Publicado 2019

People of the British Isles: preliminary analysis of genotypes and surnames in a UK-control population

por Winney, Bruce, Boumertit, Abdelhamid, Day, Tammy, Davison, Dan, Echeta, Chikodi, Evseeva, Irina, Hutnik, Katarzyna, Leslie, Stephen, Nicodemus, Kristin, Royrvik, Ellen C, Tonks, Susan, Yang, Xiaofeng, Cheshire, James, Longley, Paul, Mateos, Pablo, Groom, Alexandra, Relton, Caroline, Bishop, D Tim, Black, Kathryn, Northwood, Emma, Parkinson, Louise, Frayling, Timothy M, Steele, Anna, Sampson, Julian R, King, Turi, Dixon, Ron, Middleton, Derek, Jennings, Barbara, Bowden, Rory, Donnelly, Peter, Bodmer, Walter
Publicado 2012

Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells

por Robinson, Philip S., Thomas, Laura E., Abascal, Federico, Jung, Hyunchul, Harvey, Luke M. R., West, Hannah D., Olafsson, Sigurgeir, Lee, Bernard C. H., Coorens, Tim H. H., Lee-Six, Henry, Butlin, Laura, Lander, Nicola, Truscott, Rebekah, Sanders, Mathijs A., Lensing, Stefanie V., Buczacki, Simon J. A., ten Hoopen, Rogier, Coleman, Nicholas, Brunton-Sim, Roxanne, Rushbrook, Simon, Saeb-Parsy, Kourosh, Lalloo, Fiona, Campbell, Peter J., Martincorena, Iñigo, Sampson, Julian R., Stratton, Michael R.
Publicado 2022