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2. Meeting abstracts from the 64th British Thyroid Association Annual Meeting

Author

Bartalena, Luigi, primary, Fliers, Eric, additional, Hellen, Nicola, additional, Taylor, Peter N., additional, Lacey, Arron, additional, Thayer, Daniel, additional, Yusof, Mohd Draman, additional, Tabasum, Arshiya, additional, Muller, Illaria, additional, Marsh, Luke, additional, Ludgate, Marian, additional, Rees, Alex, additional, Boelaert, Kristien, additional, Chan, Shiao, additional, Nelson, Scott, additional, Rees, Aled, additional, Lazarus, John H., additional, Dayan, Colin M., additional, Vaidya, Bijay, additional, Okosieme, Onyebuchi, additional, Poole, Vikki L., additional, Fletcher, Alice, additional, Modasia, Bhavika, additional, Sharma, Neil, additional, Thompson, Rebecca J., additional, Imruetaicharoenchoke, Waraporn, additional, Read, Martin L., additional, McCabe, Christopher J., additional, Smith, Vicki E., additional, Fong, Jim C. W., additional, Nieto, Hannah, additional, Thompson, Rebecca, additional, Watkinson, John C., additional, Turnell, Andrew S., additional, Pariani, Nadia, additional, Willis, Mark, additional, Muller, Ilaria, additional, Healy, Sarah, additional, Nasser, Taha, additional, Jones, Joanne, additional, Chatterjee, Krishna, additional, Dayan, Colin, additional, Robertson, Neil, additional, Coles, Alasdair, additional, Moran, Carla, additional, Hales, Charlotte, additional, Taylor, Peter, additional, Channon, Sue, additional, McEwan, Kirsten, additional, Gregory, John, additional, Draman, Mohd S., additional, Langley, Kate, additional, Thapar, Anita, additional, Lazarus, John, additional, Torlinska, Barbara, additional, Franklyn, Jayne, additional, Coleman, Jamie, additional, Zhang, Lei, additional, Bakhsh, Ameen, additional, Gyedu, Michael, additional, Soto-Pedre, Enrique, additional, Leese, Graham P., additional, Zhou, Kaixin, additional, Smith, Joel A., additional, Hoffman, Jon, additional, Morgan, Neil V., additional, Campbell, Christopher, additional, Wake, Naomi C., additional, Wallis, Yvonne, additional, Maher, Eamonn R., additional, Woodward, Emma R., additional, Tee, Su A., additional, Bishop, David R., additional, Al-Sharefi, Ahmed, additional, Leng, Owain, additional, James, Robert A., additional, Salota, Rashim, additional, Rodin, Andrew, additional, Johri, Nikhil, additional, Hyer, Stephen L., additional, Mcdonnell, Thomas, additional, Ooi, Cheong G., additional, Knight, Bridget A, additional, Shields, Beverley M., additional, Pearce, Elizabeth, additional, Braverman, Lewis, additional, He, Xuemei, additional, and Sturley, Rachel, additional

Published
2017
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3. Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression

Author

Smith, Joel, primary, Read, Martin L., additional, Hoffman, Jon, additional, Brown, Rachel, additional, Bradshaw, Beth, additional, Campbell, Christopher, additional, Cole, Trevor, additional, Navas, Johanna Dieguez, additional, Eatock, Fiona, additional, Gundara, Justin S., additional, Lian, Eric, additional, Mcmullan, Dom, additional, Morgan, Neil V., additional, Mulligan, Lois, additional, Morrison, Patrick J., additional, Robledo, Mercedes, additional, Simpson, Michael A., additional, Smith, Vicki E., additional, Stewart, Sue, additional, Trembath, Richard C., additional, Sidhu, Stan, additional, Togneri, Fiona S., additional, Wake, Naomi C., additional, Wallis, Yvonne, additional, Watkinson, John C., additional, Maher, Eamonn R., additional, McCabe, Christopher J., additional, and Woodward, Emma R., additional

Published
2016
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4. Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma

Author

Jafri, Mariam, primary, Wake, Naomi C., additional, Ascher, David B., additional, Pires, Douglas E.V., additional, Gentle, Dean, additional, Morris, Mark R., additional, Rattenberry, Eleanor, additional, Simpson, Michael A., additional, Trembath, Richard C., additional, Weber, Astrid, additional, Woodward, Emma R., additional, Donaldson, Alan, additional, Blundell, Tom L., additional, Latif, Farida, additional, and Maher, Eamonn R., additional

Published
2015
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5. UBE 2 QL 1 is Disrupted by a Constitutional Translocation Associated with Renal Tumor Predisposition and is a Novel Candidate Renal Tumor Suppressor Gene

Author

Wake, Naomi C., primary, Ricketts, Christopher J., additional, Morris, Mark R., additional, Prigmore, Elena, additional, Gribble, Susan M., additional, Skytte, Anne‐Bine, additional, Brown, Michael, additional, Clarke, Noel, additional, Banks, Rosamonde E., additional, Hodgson, Shirley, additional, Turnell, Andrew S., additional, Maher, Eamonn R., additional, and Woodward, Emma R., additional

Published
2013
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6. Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility

Author

Astuti, Dewi, primary, Morris, Mark R, additional, Cooper, Wendy N, additional, Staals, Raymond H J, additional, Wake, Naomi C, additional, Fews, Graham A, additional, Gill, Harmeet, additional, Gentle, Dean, additional, Shuib, Salwati, additional, Ricketts, Christopher J, additional, Cole, Trevor, additional, van Essen, Anthonie J, additional, van Lingen, Richard A, additional, Neri, Giovanni, additional, Opitz, John M, additional, Rump, Patrick, additional, Stolte-Dijkstra, Irene, additional, Müller, Ferenc, additional, Pruijn, Ger J M, additional, Latif, Farida, additional, and Maher, Eamonn R, additional

Published
2012
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7. UBE2 QL1 is Disrupted by a Constitutional Translocation Associated with Renal Tumor Predisposition and is a Novel Candidate Renal Tumor Suppressor Gene.

Author

Wake, Naomi C., Ricketts, Christopher J., Morris, Mark R., Prigmore, Elena, Gribble, Susan M., Skytte, Anne‐Bine, Brown, Michael, Clarke, Noel, Banks, Rosamonde E., Hodgson, Shirley, Turnell, Andrew S., Maher, Eamonn R., and Woodward, Emma R.

Abstract

ABSTRACT Investigation of rare familial forms of renal cell carcinoma ( RCC) has led to the identification of genes such as VHL and MET that are also implicated in the pathogenesis of sporadic RCC. In order to identify a novel candidate renal tumor suppressor gene, we characterized the breakpoints of a constitutional balanced translocation, t(5;19)(p15.3;q12), associated with familial RCC and found that a previously uncharacterized gene UBE2 QL1 was disrupted by the chromosome 5 breakpoint. UBE2 QL1 m RNA expression was downregulated in 78.6% of sporadic RCC and, although no intragenic mutations were detected, gene deletions and promoter region hypermethylation were detected in 17.3% and 20.3%, respectively, of sporadic RCC. Reexpression of UBE2 QL1 in a deficient RCC cell line suppressed anchorage-independent growth. UBE2 QL1 shows homology to the E2 class of ubiquitin conjugating enzymes and we found that (1) UBE2 QL1 possesses an active-site cysteine (C88) that is monoubiquitinated in vivo, and (2) UBE2 QL1 interacts with FBXW7 (an F box protein providing substrate recognition to the SCF E3 ubiquitin ligase) and facilitates the degradation of the known FBXW7 targets, CCNE1 and m TOR. These findings suggest UBE2 QL1 as a novel candidate renal tumor suppressor gene. [ABSTRACT FROM AUTHOR]

Published
2013
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8. Meeting abstracts from the 64th British Thyroid Association Annual Meeting

Author

Bartalena, Luigi, Fliers, Eric, Hellen, Nicola, Taylor, Peter N, Lacey, Arron, Thayer, Daniel, Yusof, Mohd Draman, Tabasum, Arshiya, Muller, Illaria, Marsh, Luke, Ludgate, Marian, Rees, Alex, Boelaert, Kristien, Chan, Shiao, Nelson, Scott, Rees, Aled, Lazarus, John H, Dayan, Colin M, Vaidya, Bijay, Okosieme, Onyebuchi, Poole, Vikki L, Fletcher, Alice, Modasia, Bhavika, Sharma, Neil, Thompson, Rebecca J, Imruetaicharoenchoke, Waraporn, Read, Martin L, McCabe, Christopher J, Smith, Vicki E, Fong, Jim CW, Nieto, Hannah, Thompson, Rebecca, Watkinson, John C, Turnell, Andrew S, Pariani, Nadia, Willis, Mark, Muller, Ilaria, Healy, Sarah, Nasser, Taha, Jones, Joanne, Chatterjee, Krishna, Dayan, Colin, Robertson, Neil, Coles, Alasdair, Moran, Carla, Hales, Charlotte, Taylor, Peter, Channon, Sue, McEwan, Kirsten, Gregory, John, Draman, Mohd S, Langley, Kate, Thapar, Anita, Lazarus, John, Torlinska, Barbara, Franklyn, Jayne, Coleman, Jamie, Zhang, Lei, Bakhsh, Ameen, Gyedu, Michael, Soto-Pedre, Enrique, Leese, Graham P, Zhou, Kaixin, Smith, Joel A, Hoffman, Jon, Morgan, Neil V, Campbell, Christopher, Wake, Naomi C, Wallis, Yvonne, Maher, Eamonn R, Woodward, Emma R, Tee, Su A, Bishop, David R, Al-Sharefi, Ahmed, Leng, Owain, James, Robert A, Salota, Rashim, Rodin, Andrew, Johri, Nikhil, Hyer, Stephen L, Mcdonnell, Thomas, Ooi, Cheong G, Knight, Bridget A, Shields, Beverley M, Pearce, Elizabeth, Braverman, Lewis, He, Xuemei, and Sturley, Rachel

Subjects
3205 Medical Biochemistry and Metabolomics, 32 Biomedical and Clinical Sciences, Meeting Abstracts, 3202 Clinical Sciences
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