Zobrazeno 1 - 10
of 84
pro vyhledávání: '"Laura E. Thomas"'
Autor:
Pal Møller, Toni T. Seppälä, Aysel Ahadova, Emma J. Crosbie, Elke Holinski-Feder, Rodney Scott, Saskia Haupt, Gabriela Möslein, Ingrid Winship, Sanne W. Bajwa-ten Broeke, Kelly E. Kohut, Neil Ryan, Peter Bauerfeind, Laura E. Thomas, D. Gareth Evans, Stefan Aretz, Rolf H. Sijmons, Elizabeth Half, Karl Heinimann, Karoline Horisberger, Kevin Monahan, Christoph Engel, Giulia Martina Cavestro, Robert Fruscio, Naim Abu-Freha, Levi Zohar, Luigi Laghi, Lucio Bertario, Bernardo Bonanni, Maria Grazia Tibiletti, Leonardo S. Lino-Silva, Carlos Vaccaro, Adriana Della Valle, Benedito Mauro Rossi, Leandro Apolinário da Silva, Ivana Lucia de Oliveira Nascimento, Norma Teresa Rossi, Tadeusz Dębniak, Jukka-Pekka Mecklin, Inge Bernstein, Annika Lindblom, Lone Sunde, Sigve Nakken, Vincent Heuveline, John Burn, Eivind Hovig, Matthias Kloor, Julian R. Sampson, Mev Dominguez-Valentin, On behalf of the Prospective Lynch Syndrome Database (www.plsd.eu) and The European Hereditary Tumour Group (www.ehtg.org)
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 21, Iss 1, Pp 1-12 (2023)
Abstract The recognition of dominantly inherited micro-satellite instable (MSI) cancers caused by pathogenic variants in one of the four mismatch repair (MMR) genes MSH2, MLH1, MSH6 and PMS2 has modified our understanding of carcinogenesis. Inherited
Externí odkaz:
https://doaj.org/article/952d37829e8040c192582717c1ee47f5
Autor:
Philip S. Robinson, Laura E. Thomas, Federico Abascal, Hyunchul Jung, Luke M. R. Harvey, Hannah D. West, Sigurgeir Olafsson, Bernard C. H. Lee, Tim H. H. Coorens, Henry Lee-Six, Laura Butlin, Nicola Lander, Rebekah Truscott, Mathijs A. Sanders, Stefanie V. Lensing, Simon J. A. Buczacki, Rogier ten Hoopen, Nicholas Coleman, Roxanne Brunton-Sim, Simon Rushbrook, Kourosh Saeb-Parsy, Fiona Lalloo, Peter J. Campbell, Iñigo Martincorena, Julian R. Sampson, Michael R. Stratton
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-12 (2022)
Inherited mutations in MUTYH have been shown to predispose patients to colorectal cancers. Here, the authors show that MUTYH mutations lead to an increased somatic base substitution mutation rate in normal intestinal epithelial cells, which is the li
Externí odkaz:
https://doaj.org/article/c14b563faf084d9f9abf9b953d1b62bf
Publikováno v:
Frontiers in Psychology, Vol 12 (2021)
Inhibition of return (IOR) is thought to reflect a cognitive mechanism that biases attention from returning to previously engaged items. While models of cognitive aging have proposed deficits within select inhibitory domains, older adults have demons
Externí odkaz:
https://doaj.org/article/26a5cabee2604b98a44f53c139fd24c5
Autor:
Claire Palles, Hannah D. West, Edward Chew, Sara Galavotti, Christoffer Flensburg, Judith E. Grolleman, Erik A.M. Jansen, Helen Curley, Laura Chegwidden, Edward H. Arbe-Barnes, Nicola Lander, Rebekah Truscott, Judith Pagan, Ashish Bajel, Kitty Sherwood, Lynn Martin, Huw Thomas, Demetra Georgiou, Florentia Fostira, Yael Goldberg, David J. Adams, Simone A.M. van der Biezen, Michael Christie, Mark Clendenning, Laura E. Thomas, Constantinos Deltas, Aleksandar J. Dimovski, Dagmara Dymerska, Jan Lubinski, Khalid Mahmood, Rachel S. van der Post, Mathijs Sanders, Jürgen Weitz, Jenny C. Taylor, Clare Turnbull, Lilian Vreede, Tom van Wezel, Celina Whalley, Claudia Arnedo-Pac, Giulio Caravagna, William Cross, Daniel Chubb, Anna Frangou, Andreas J. Gruber, Ben Kinnersley, Boris Noyvert, David Church, Trevor Graham, Richard Houlston, Nuria Lopez-Bigas, Andrea Sottoriva, David Wedge, Mark A. Jenkins, Roland P. Kuiper, Andrew W. Roberts, Jeremy P. Cheadle, Marjolijn J.L. Ligtenberg, Nicoline Hoogerbrugge, Viktor H. Koelzer, Andres Dacal Rivas, Ingrid M. Winship, Clara Ruiz Ponte, Daniel D. Buchanan, Derek G. Power, Andrew Green, Ian P.M. Tomlinson, Julian R. Sampson, Ian J. Majewski, Richarda M. de Voer
Publikováno v:
American Journal of Human Genetics, 109(5), 953-960. Cell Press
Palles, C, West, H, Chew, E, Galavotti, S, Flensburg, C, Grolleman, J, Jansen, E, Curley, H, Chedwiggen, L, Arbe-Barnes, E, Lander, N, Truscot, R, Pagan, J, Bajel, A, Sherwood, K, Martin, L, Thomas, H, Georgiou, D, Fostira, F, Goldberg, Y, Adams, D, van der Biezen, S, Christie, M, Clendenning, M, Thomas, L, Deltas, C, Dimovski, A, Dymerska, D, Lubinski, J, Mahmood, K, van der Post, R, Sanders, M, Weitz, J, Taylor, J, Turnbull, C, Vreede, L, van Wezel, T, Whalley, C, Arnedo, C, Caravagna, G, Cross, W, Chubb, D, Frangou, A, Gruber, A, Kinnersley, B, Noyvert, B, Church, D, Graham, T, Houlston, R, Lopez, N, Sottoriva, A, Wedge, D, Jenkins, M, Kuiper, R, Roberts, A, Cheadle, J, Ligtenberg, M, Hoogerbrugge, N, Koelzer, V, Dacal Rivas, A, Winship, I, Ruiz Ponte, C, Buchanan, D, Power, D, Green, A, Tomlinson, I P M, Sampson, J, Majewski, I & M. de Voer, R 2022, ' Germline MBD4-deficiency causes a multi-tumor predisposition syndrome ', American Journal of Human Genetics, vol. 109, no. 5, pp. 953-960 . https://doi.org/10.1016/j.ajhg.2022.03.018
American Journal of Human Genetics, 109, 953-960
American Journal of Human Genetics, 109, 5, pp. 953-960
Palles, C, West, H, Chew, E, Galavotti, S, Flensburg, C, Grolleman, J, Jansen, E, Curley, H, Chedwiggen, L, Arbe-Barnes, E, Lander, N, Truscot, R, Pagan, J, Bajel, A, Sherwood, K, Martin, L, Thomas, H, Georgiou, D, Fostira, F, Goldberg, Y, Adams, D, van der Biezen, S, Christie, M, Clendenning, M, Thomas, L, Deltas, C, Dimovski, A, Dymerska, D, Lubinski, J, Mahmood, K, van der Post, R, Sanders, M, Weitz, J, Taylor, J, Turnbull, C, Vreede, L, van Wezel, T, Whalley, C, Arnedo, C, Caravagna, G, Cross, W, Chubb, D, Frangou, A, Gruber, A, Kinnersley, B, Noyvert, B, Church, D, Graham, T, Houlston, R, Lopez, N, Sottoriva, A, Wedge, D, Jenkins, M, Kuiper, R, Roberts, A, Cheadle, J, Ligtenberg, M, Hoogerbrugge, N, Koelzer, V, Dacal Rivas, A, Winship, I, Ruiz Ponte, C, Buchanan, D, Power, D, Green, A, Tomlinson, I P M, Sampson, J, Majewski, I & M. de Voer, R 2022, ' Germline MBD4-deficiency causes a multi-tumor predisposition syndrome ', American Journal of Human Genetics, vol. 109, no. 5, pp. 953-960 . https://doi.org/10.1016/j.ajhg.2022.03.018
American Journal of Human Genetics, 109, 953-960
American Journal of Human Genetics, 109, 5, pp. 953-960
Contains fulltext : 251996.pdf (Publisher’s version ) (Open Access) We report an autosomal recessive, multi-organ tumor predisposition syndrome, caused by bi-allelic loss-of-function germline variants in the base excision repair (BER) gene MBD4. We
Autor:
Julian R. Sampson, Susan K. Clark, Morgan Moorghen, Meleri Morgan, Geraint T. Williams, Sunil Dolwani, Sarah-Jane Walton, Meera Raja, Angharad Walters, Manon Harry, Helena Leon Brito, Julie Maynard, Shelley Idziaszczyk, Matthew Mort, Kevin E. Ashelford, Sian Jose, Elena Meuser, Joanna J. Hurley, Laura E. Thomas
Pre- and Post-validation protein altering somatic variants identified by whole exome sequencing.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5ce25dbcea6cfd110b3ebffd6c078d0
https://doi.org/10.1158/1078-0432.22468877.v1
https://doi.org/10.1158/1078-0432.22468877.v1
Autor:
Julian R. Sampson, Susan K. Clark, Morgan Moorghen, Meleri Morgan, Geraint T. Williams, Sunil Dolwani, Sarah-Jane Walton, Meera Raja, Angharad Walters, Manon Harry, Helena Leon Brito, Julie Maynard, Shelley Idziaszczyk, Matthew Mort, Kevin E. Ashelford, Sian Jose, Elena Meuser, Joanna J. Hurley, Laura E. Thomas
Purpose: Duodenal polyposis and cancer are important causes of morbidity and mortality in familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP). This study aimed to comprehensively characterize somatic genetic changes in FAP and M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bec1c9bec923fc598eec7d4581a8e81
https://doi.org/10.1158/1078-0432.c.6527084
https://doi.org/10.1158/1078-0432.c.6527084
Autor:
Julian R. Sampson, Susan K. Clark, Morgan Moorghen, Meleri Morgan, Geraint T. Williams, Sunil Dolwani, Sarah-Jane Walton, Meera Raja, Angharad Walters, Manon Harry, Helena Leon Brito, Julie Maynard, Shelley Idziaszczyk, Matthew Mort, Kevin E. Ashelford, Sian Jose, Elena Meuser, Joanna J. Hurley, Laura E. Thomas
Summary of the 62 recurrently mutated genes in the exome dataset (supplementary table 2) and the number of mutations identified in each gene. Total numbers of variants in each gene take into account any mutations identified in duplicate adenomas.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62adb6221b5f63491470fe65c602c8d7
https://doi.org/10.1158/1078-0432.22468871.v1
https://doi.org/10.1158/1078-0432.22468871.v1
Autor:
Julian R. Sampson, Susan K. Clark, Morgan Moorghen, Meleri Morgan, Geraint T. Williams, Sunil Dolwani, Sarah-Jane Walton, Meera Raja, Angharad Walters, Manon Harry, Helena Leon Brito, Julie Maynard, Shelley Idziaszczyk, Matthew Mort, Kevin E. Ashelford, Sian Jose, Elena Meuser, Joanna J. Hurley, Laura E. Thomas
Database of somatic APC mutations reported in FAP and MAP duodenal and colorectal adenomas. NA, Not available. NI, Not identified
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::020dd3dbf75d9991dcb718a7f0d1ca06
https://doi.org/10.1158/1078-0432.22468868.v1
https://doi.org/10.1158/1078-0432.22468868.v1
Autor:
Julian R. Sampson, Susan K. Clark, Morgan Moorghen, Meleri Morgan, Geraint T. Williams, Sunil Dolwani, Sarah-Jane Walton, Meera Raja, Angharad Walters, Manon Harry, Helena Leon Brito, Julie Maynard, Shelley Idziaszczyk, Matthew Mort, Kevin E. Ashelford, Sian Jose, Elena Meuser, Joanna J. Hurley, Laura E. Thomas
Histogram showing number of validated protein changing somatic variants identified per adenoma.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1040802bee6a1a1ae545d716a6306af0
https://doi.org/10.1158/1078-0432.22468883
https://doi.org/10.1158/1078-0432.22468883
Autor:
Julian R. Sampson, Susan K. Clark, Morgan Moorghen, Meleri Morgan, Geraint T. Williams, Sunil Dolwani, Sarah-Jane Walton, Meera Raja, Angharad Walters, Manon Harry, Helena Leon Brito, Julie Maynard, Shelley Idziaszczyk, Matthew Mort, Kevin E. Ashelford, Sian Jose, Elena Meuser, Joanna J. Hurley, Laura E. Thomas
Supplementary methods
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a64c8ab835872b933d4b632635faf610
https://doi.org/10.1158/1078-0432.22468880
https://doi.org/10.1158/1078-0432.22468880