The role of DNA methylation in human pancreatic neuroendocrine tumours

por English, Katherine A, Thakker, Rajesh V, Lines, Kate E
Publicado 2023

The bromodomain inhibitor JQ1+ reduces calcium-sensing receptor activity in pituitary cell lines

por Lines, Kate E, Gluck, Anna K, Thongjuea, Supat, Bountra, Chas, Thakker, Rajesh V, Gorvin, Caroline M
Publicado 2021

OR16-03 Epigenetic Studies Of Pancreatic Neuroendocrine Tumours (PNETs) Reveal Decreased DNA Hydroxymethylation In Non-functioning PNETs But Not Insulinomas

por English, Katherine A, Selberherr, Andreas, Shariq, Omair A, O'Neill, Eric, Lines, Kate E, Thakker, Rajesh V
Publicado 2023

Pasireotide Therapy of Multiple Endocrine Neoplasia Type 1–Associated Neuroendocrine Tumors in Female Mice Deleted for an Men1 Allele Improves Survival and Reduces Tumor Progressio...

por Walls, Gerard V., Stevenson, Mark, Soukup, Benjamin S., Lines, Kate E., Grossman, Ashley B., Schmid, Herbert A., Thakker, Rajesh V.
Publicado 2016

The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing

por Stevenson, Mark, Pagnamenta, Alistair T, Mack, Heather G, Savige, Judith, Giacopuzzi, Edoardo, Lines, Kate E, Taylor, Jenny C, Thakker, Rajesh V
Publicado 2022

OR07-06 The Roles of GNAQ and GNA11 in Calcium-Sensing Receptor (CaSR) Signalling

por Gluck, Anna K, Stevenson, Mark, Falcone, Sara, Inoue, Asuka, Breitwieser, Gerda E, Gorvin, Caroline M, Lines, Kate E, Thakker, Rajesh V
Publicado 2020

Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia

por Stevenson, Mark, Pagnamenta, Alistair T., Reichart, Silvia, Philpott, Charlotte, Lines, Kate E., Gorvin, Caroline M., Lhotta, Karl, Taylor, Jenny C., Thakker, Rajesh V.
Publicado 2020

Multiple Endocrine Neoplasia Type 1 (MEN1) Phenocopy Due to a Cell Cycle Division 73 (CDC73) Variant

por Lines, Kate E, Nachtigall, Lisa B, Dichtel, Laura E, Cranston, Treena, Boon, Hannah, Zhang, Xun, Kooblall, Kreepa G, Stevenson, Mark, Thakker, Rajesh V
Publicado 2020

Activating Mutations of the G-protein Subunit α (11) Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2

por Gorvin, Caroline M, Stokes, Victoria J, Boon, Hannah, Cranston, Treena, Glück, Anna K, Bahl, Shailini, Homfray, Tessa, Aung, Theingi, Shine, Brian, Lines, Kate E, Hannan, Fadil M, Thakker, Rajesh V
Publicado 2019

Clinical MEN-1 Among a Large Cohort of Patients With Acromegaly

por Nachtigall, Lisa B, Guarda, Francisco J, Lines, Kate E, Ghajar, Alireza, Dichtel, Laura, Mumbach, Giselle, Zhao, Wenxiu, Zhang, Xun, Tritos, Nicholas A, Swearingen, Brooke, Miller, Karen K, Thakker, Rajesh V
Publicado 2020

PTH infusion ameliorates seizures in autosomal dominant hypocalcemia type 1

por Sastre, Ana, Valentino, Kevin, Hannan, Fadil M., Lines, Kate E., Gluck, Anna K., Stevenson, Mark, Ryalls, Michael, Pullen, Debbie, Buck, Jackie, Sankar, Sailesh, Allgrove, Jeremy, Thakker, Rajesh V., Gevers, Evelien F.
Publicado 2021

Preclinical Models of Neuroendocrine Neoplasia

por Sedlack, Andrew J. H., Saleh-Anaraki, Kimia, Kumar, Suresh, Ear, Po Hien, Lines, Kate E., Roper, Nitin, Pacak, Karel, Bergsland, Emily, Quelle, Dawn E., Howe, James R., Pommier, Yves, del Rivero, Jaydira
Publicado 2022

Genetic background influences tumour development in heterozygous Men1 knockout mice

por 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
Publicado 2020

miR-3156-5p is downregulated in serum of MEN1 patients and regulates expression of MORF4L2

por Kooblall, Kreepa G, Stokes, Victoria J, Shariq, Omair A, English, Katherine A, Stevenson, Mark, Broxholme, John, Wright, Benjamin, Lockstone, Helen E, Buck, David, Grozinsky-Glasberg, Simona, Yates, Christopher J, Thakker, Rajesh V, Lines, Kate E
Publicado 2022

Association of prolactin receptor (PRLR) variants with prolactinomas

por Gorvin, Caroline M, Newey, Paul J, Rogers, Angela, Stokes, Victoria, Neville, Matt J, Lines, Kate E, Ntali, Georgia, Lees, Peter, Morrison, Patrick J, Singhellakis, Panagiotis N, Malandrinou, Fotini Ch, Karavitaki, Niki, Grossman, Ashley B, Karpe, Fredrik, Thakker, Rajesh V
Publicado 2019

A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X ( NFIX ) Gene Has Phenotypic Features of Marshall‐Smith Syndrome

por Kooblall, Kreepa G., Stevenson, Mark, Stewart, Michelle, Harris, Lachlan, Zalucki, Oressia, Dewhurst, Hannah, Butterfield, Natalie, Leng, Houfu, Hough, Tertius A., Ma, Da, Siow, Bernard, Potter, Paul, Cox, Roger D., Brown, Stephen D.M., Horwood, Nicole, Wright, Benjamin, Lockstone, Helen, Buck, David, Vincent, Tonia L., Hannan, Fadil M., Bassett, J.H. Duncan, Williams, Graham R., Lines, Kate E., Piper, Michael, Wells, Sara, Teboul, Lydia, Hennekam, Raoul C., Thakker, Rajesh V.
Publicado 2023

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

por Pagnamenta, Alistair T., Camps, Carme, Giacopuzzi, Edoardo, Taylor, John M., Hashim, Mona, Calpena, Eduardo, Kaisaki, Pamela J., Hashimoto, Akiko, Yu, Jing, Sanders, Edward, Schwessinger, Ron, Hughes, Jim R., Lunter, Gerton, Dreau, Helene, Ferla, Matteo, Lange, Lukas, Kesim, Yesim, Ragoussis, Vassilis, Vavoulis, Dimitrios V., Allroggen, Holger, Ansorge, Olaf, Babbs, Christian, Banka, Siddharth, Baños-Piñero, Benito, Beeson, David, Ben-Ami, Tal, Bennett, David L., Bento, Celeste, Blair, Edward, Brasch-Andersen, Charlotte, Bull, Katherine R., Cario, Holger, Cilliers, Deirdre, Conti, Valerio, Davies, E. Graham, Dhalla, Fatima, Dacal, Beatriz Diez, Dong, Yin, Dunford, James E., Guerrini, Renzo, Harris, Adrian L., Hartley, Jane, Hollander, Georg, Javaid, Kassim, Kane, Maureen, Kelly, Deirdre, Kelly, Dominic, Knight, Samantha J. L., Kreins, Alexandra Y., Kvikstad, Erika M., Langman, Craig B., Lester, Tracy, Lines, Kate E., Lord, Simon R., Lu, Xin, Mansour, Sahar, Manzur, Adnan, Maroofian, Reza, Marsden, Brian, Mason, Joanne, McGowan, Simon J., Mei, Davide, Mlcochova, Hana, Murakami, Yoshiko, Németh, Andrea H., Okoli, Steven, Ormondroyd, Elizabeth, Ousager, Lilian Bomme, Palace, Jacqueline, Patel, Smita Y., Pentony, Melissa M., Pugh, Chris, Rad, Aboulfazl, Ramesh, Archana, Riva, Simone G., Roberts, Irene, Roy, Noémi, Salminen, Outi, Schilling, Kyleen D., Scott, Caroline, Sen, Arjune, Smith, Conrad, Stevenson, Mark, Thakker, Rajesh V., Twigg, Stephen R. F., Uhlig, Holm H., van Wijk, Richard, Vona, Barbara, Wall, Steven, Wang, Jing, Watkins, Hugh, Zak, Jaroslav, Schuh, Anna H., Kini, Usha, Wilkie, Andrew O. M., Popitsch, Niko, Taylor, Jenny C.
Publicado 2023