المؤلفون: Meuser, Elena, Chang, Kyle, Walters, Angharad, Hurley, Joanna J., West, Hannah D., Perry, Iain, Mort, Matthew, Reyes-Uribe, Laura, Truscott, Rebekah, Jones, Nicholas, Lawrence, Rachel, Jenkins, Gareth, Giles, Peter, Dolwani, Sunil, Al-Sarireh, Bilal, Hawkes, Neil, Short, Emma, Williams, Geraint T., Taggart, Melissa W., Luetchford, Kim, Lynch, Patrick M., Terlouw, Diantha, Nielsen, Maartje, Walton, Sarah-Jane, Latchford, Andrew, Clark, Susan K., Sampson, Julian R., Vilar, Eduardo, Thomas, Laura E.

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/171443/1/SAMPSON%20JULIAN%20-%20PIGA%20Mutations%20and%20Glycosylphosphatidylinositol.pdf; Meuser, Elena, Chang, Kyle, Walters, Angharad https://orca.cardiff.ac.uk/view/cardiffauthors/A429100O.html, Hurley, Joanna J., West, Hannah D. https://orca.cardiff.ac.uk/view/cardiffauthors/A2337186L.html orcid:0000-0002-6104-6534 orcid:0000-0002-6104-6534, Perry, Iain, Mort, Matthew https://orca.cardiff.ac.uk/view/cardiffauthors/A062506X.html, Reyes-Uribe, Laura, Truscott, Rebekah https://orca.cardiff.ac.uk/view/cardiffauthors/A2322761X.html, Jones, Nicholas, Lawrence, Rachel, Jenkins, Gareth, Giles, Peter https://orca.cardiff.ac.uk/view/cardiffauthors/A0387711.html orcid:0000-0003-3143-6854 orcid:0000-0003-3143-6854, Dolwani, Sunil https://orca.cardiff.ac.uk/view/cardiffauthors/A031553M.html orcid:0000-0002-3113-5472 orcid:0000-0002-3113-5472, Al-Sarireh, Bilal, Hawkes, Neil, Short, Emma, Williams, Geraint T. https://orca.cardiff.ac.uk/view/cardiffauthors/A038768S.html orcid:0000-0003-3768-9940 orcid:0000-0003-3768-9940, Taggart, Melissa W., Luetchford, Kim, Lynch, Patrick M., Terlouw, Diantha, Nielsen, Maartje, Walton, Sarah-Jane, Latchford, Andrew, Clark, Susan K., Sampson, Julian R. https://orca.cardiff.ac.uk/view/cardiffauthors/A0160820.html orcid:0000-0002-2902-2348 orcid:0000-0002-2902-2348, Vilar, Eduardo and Thomas, Laura E. 2024. PIGA mutations and glycosylphosphatidylinositol anchor dysregulation in polyposis-associated duodenal tumorigenesis. Molecular Cancer Research 22 (6) , 515–523. 10.1158/1541-7786.MCR-23-0810 https://doi.org/10.1158/1541-7786.MCR-23-0810 file https://orca.cardiff.ac.uk/id/eprint/171443/1/SAMPSON%20JULIAN%20-%20PIGA%20Mutations%20and%20Glycosylphosphatidylinositol.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/171443/
https://doi.org/10.1158/1541-7786.MCR-23-0810
https://orca.cardiff.ac.uk/id/eprint/171443/1/SAMPSON%20JULIAN%20-%20PIGA%20Mutations%20and%20Glycosylphosphatidylinositol.pdf

المؤلفون: West, Hannah D., Nellist, Mark, Brouwer, Rutger W. W., van den Hout-van Vroonhoven, Mirjam C. G. N., de Almeida, Luiz Gustavo Dufner, Hendriks, Femke, Elfferich, Peter, Raja, Meera, Giles, Peter, Alfano, Rosa M., Peron, Angela, Sznajer, Yves, De Waele, Liesbeth, Jansen, Anna, Koopmans, Marije, Kievit, Anneke, Farach, Laura S., Northrup, Hope, Sampson, Julian R., Thomas, Laura E., van IJcken, Wilfred F. J., Chen, Jian-Min

المساهمون: UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL

المصدر: Human Mutation, Vol. 2023, p. 4899372 [1-18] (2023)

Relation: boreal:289739; http://hdl.handle.net/2078.1/289739; urn:ISSN:1059-7794; urn:EISSN:1098-1004

الاتاحة: http://hdl.handle.net/2078.1/289739
https://doi.org/10.1155/2023/4899372

المؤلفون: Wills, Christopher, Houseman, Amy, Watts, Katie, Maughan, Timothy S., Fisher, David, Houlston, Richard S., West, Hannah D., Escott-Price, Valentina, Cheadle, Jeremy P.

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/160584/1/44276_2023_Article_3.pdf; Wills, Christopher https://orca.cardiff.ac.uk/view/cardiffauthors/A2395637S.html, Houseman, Amy https://orca.cardiff.ac.uk/view/cardiffauthors/A2632620K.html, Watts, Katie https://orca.cardiff.ac.uk/view/cardiffauthors/A24680028.html, Maughan, Timothy S., Fisher, David, Houlston, Richard S., West, Hannah D. https://orca.cardiff.ac.uk/view/cardiffauthors/A2337186L.html orcid:0000-0002-6104-6534 orcid:0000-0002-6104-6534, Escott-Price, Valentina https://orca.cardiff.ac.uk/view/cardiffauthors/A015705M.html orcid:0000-0003-1784-5483 orcid:0000-0003-1784-5483 and Cheadle, Jeremy P. https://orca.cardiff.ac.uk/view/cardiffauthors/A0702554.html orcid:0000-0001-9453-8458 orcid:0000-0001-9453-8458 2023. Relationship between 233 colorectal cancer risk loci and survival in 1926 patients with advanced disease. BJC Reports 1 (1) , 2. 10.1038/s44276-023-00003-z https://doi.org/10.1038/s44276-023-00003-z file https://orca.cardiff.ac.uk/id/eprint/160584/1/44276_2023_Article_3.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/160584/
https://doi.org/10.1038/s44276-023-00003-z
https://orca.cardiff.ac.uk/id/eprint/160584/1/44276_2023_Article_3.pdf

المؤلفون: Palles, Claire, West, Hannah D, Chew, Edward, Galavotti, Sara, Flensburg, Christoffer, Grolleman, Judith E, Jansen, Erik A M, Curley, Helen, Chegwidden, Laura, Arbe-Barnes, Edward H, Lander, Nicola, Truscott, Rebekah, Pagan, Judith, Bajel, Ashish, Sherwood, Kitty, Martin, Lynn, Thomas, Huw, Georgiou, Demetra, Fostira, Florentia, Goldberg, Yael, Adams, David J, van der Biezen, Simone A M, Christie, Michael, Clendenning, Mark, Thomas, Laura E, Deltas, Constantinos, Dimovski, Aleksandar J, Dymerska, Dagmara, Lubinski, Jan, Mahmood, Khalid, van der Post, Rachel S, Sanders, Mathijs, Weitz, Jürgen, Taylor, Jenny C, Turnbull, Clare, Vreede, Lilian, van Wezel, Tom, Whalley, Celina, Arnedo-Pac, Claudia, Caravagna, Giulio, Cross, William, Chubb, Daniel, Frangou, Anna, Gruber, Andreas J, Kinnersley, Ben, Noyvert, Boris, Church, David, Graham, Trevor, Houlston, Richard, Lopez-Bigas, Nuria, Sottoriva, Andrea, Wedge, David, Jenkins, Mark A, Kuiper, Roland P, Roberts, Andrew W, Cheadle, Jeremy P, Ligtenberg, Marjolijn J L, Hoogerbrugge, Nicoline, Koelzer, Viktor H, Rivas, Andres Dacal, Winship, Ingrid M, Ponte, Clara Ruiz, Buchanan, Daniel D, Power, Derek G, Green, Andrew, Tomlinson, Ian P M, Sampson, Julian R, Majewski, Ian J, de Voer, Richarda M

المساهمون: Palles, Claire, West, Hannah D, Chew, Edward, Galavotti, Sara, Flensburg, Christoffer, Grolleman, Judith E, Jansen, Erik A M, Curley, Helen, Chegwidden, Laura, Arbe-Barnes, Edward H, Lander, Nicola, Truscott, Rebekah, Pagan, Judith, Bajel, Ashish, Sherwood, Kitty, Martin, Lynn, Thomas, Huw, Georgiou, Demetra, Fostira, Florentia, Goldberg, Yael, Adams, David J, van der Biezen, Simone A M, Christie, Michael, Clendenning, Mark, Thomas, Laura E, Deltas, Constantino, Dimovski, Aleksandar J, Dymerska, Dagmara, Lubinski, Jan, Mahmood, Khalid, van der Post, Rachel S, Sanders, Mathij, Weitz, Jürgen, Taylor, Jenny C, Turnbull, Clare, Vreede, Lilian, van Wezel, Tom, Whalley, Celina, Arnedo-Pac, Claudia, Caravagna, Giulio, Cross, William, Chubb, Daniel, Frangou, Anna, Gruber, Andreas J, Kinnersley, Ben, Noyvert, Bori, Church, David, Graham, Trevor, Houlston, Richard, Lopez-Bigas, Nuria, Sottoriva, Andrea, Wedge, David, Jenkins, Mark A, Kuiper, Roland P, Roberts, Andrew W, Cheadle, Jeremy P, Ligtenberg, Marjolijn J L, Hoogerbrugge, Nicoline, Koelzer, Viktor H, Rivas, Andres Dacal, Winship, Ingrid M, Ponte, Clara Ruiz, Buchanan, Daniel D, Power, Derek G, Green, Andrew, Tomlinson, Ian P M, Sampson, Julian R, Majewski, Ian J, de Voer, Richarda M

مصطلحات موضوعية: 5′-methylcytosine deamination, colorectal cancer, mutational signature, mutator phenotype, polyposi, Endodeoxyribonuclease, Genetic Predisposition to Disease, Germ Cell, Germ-Line Mutation, Human, Adenomatous Polyposis Coli, Colorectal Neoplasm, Uveal Neoplasms

Relation: info:eu-repo/semantics/altIdentifier/pmid/35460607; info:eu-repo/semantics/altIdentifier/wos/WOS:000834032900014; volume:109; issue:5; firstpage:953; lastpage:960; numberofpages:8; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11368/3033101; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85129637568; https://www.sciencedirect.com/science/article/pii/S0002929722001148

الاتاحة: https://hdl.handle.net/11368/3033101
https://doi.org/10.1016/j.ajhg.2022.03.018
https://www.sciencedirect.com/science/article/pii/S0002929722001148

المؤلفون: 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.

المصدر: Robinson , P S , Thomas , L E , Abascal , F , Jung , H , Harvey , L M R , West , H D , Olafsson , S , Lee , B C H , Coorens , T H H , Lee-Six , H , Butlin , L , Lander , N , Truscott , R , Sanders , M A , Lensing , S V , Buczacki , S J A , ten Hoopen , R , Coleman , N , Brunton-Sim , R , Rushbrook , S , Saeb-Parsy , K , Lalloo ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/f09c4bbb-bc5b-49e4-9d84-bb51becdf54d
https://doi.org/10.1038/s41467-022-31341-0
https://pure.eur.nl/ws/files/60054270/s41467_022_31341_0.pdf
http://www.scopus.com/inward/record.url?scp=85133717829&partnerID=8YFLogxK

المؤلفون: Robinson, Philip S, Thomas, Laura E, Abascal, Federico, Jung, Hyunchul, Harvey, Luke MR, West, Hannah D, Olafsson, Sigurgeir, Lee, Bernard CH, Coorens, Tim HH, Lee-Six, Henry, Butlin, Laura, Lander, Nicola, Truscott, Rebekah, Sanders, Mathijs A, Lensing, Stefanie V, Buczacki, Simon JA, 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

المصدر: essn: 2041-1723 ; nlmid: 101528555

مصطلحات موضوعية: Adenomatous Polyposis Coli, Colorectal Neoplasms, DNA Glycosylases, Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Mutation, Mutation Rate

وصف الملف: application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/339969

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/339969
https://doi.org/10.17863/CAM.87392

المؤلفون: Prentzell, Mirja Tamara, Rehbein, Ulrike, Sandoval, Marti Cadena, De Meulemeester, Ann-Sofie, Baumeister, Ralf, Brohée, Laura, Berdel, Bianca, Bockwoldt, Mathias, Carroll, Bernadette, Chowdhury, Suvagata Roy, von Deimling, Andreas, Demetriades, Constantinos, Figlia, Gianluca, de Arauj, Mariana Eca Guimaraes, Heberle, Alexander Martin, Heiland, Ines, Holzwarth, Birgit, Huber, Lukas A, Jaworski, Jacek, Kedra, Magdalena, Kern, Katharina, Kopach, Andrii, Korolchuk, Viktor I, van't Land-Kuper, Ineke, Macias, Matylda, Nellist, Mark, Palm, Wilhelm, Pusch, Stefan, Ramos Pittol, Jose Miguel, Reil, Michèle, Reintjes, Anja, Reuter, Friederike, Sampson, Julian R., Scheldeman, Chloë, Siekierska, Aleksandra, Stefan, Eduard, Teleman, Aurelio A, Thomas, Laura E, Torres-Quesada, Omar, Trump, Saskia, West, Hannah D, de Witte, Peter, Woltering, Sandra, Yordanov, Teodor E, Zmorzynska, Justyna, Opitz, Christiane A., Thedieck, Kathrin

مصطلحات موضوعية: VDP::Medical disciplines: 700::Basic medical, dental and veterinary science disciplines: 710::Medical molecular biology: 711, VDP::Medisinske Fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710::Medisinsk molekylærbiologi: 711

Relation: Cell; info:eu-repo/grantAgreement/EC/H2020/812616/EU/Polymers in the Liver: Metabolism and Regulation/PoLiMeR/; info:eu-repo/grantAgreement/EC/H2020/754688/EU/Systems Medicine of Metabolic-Signaling Networks: A New Concept for Breast Cancer Patient Stratification/MESI-STRAT/; info:eu-repo/grantAgreement/EC/H2020/757729/EU/Rag-independent regulation of mTOR by Amino Acids/noRAG-TOR/; https://doi.org/10.1016/j.cell.2020.12.024 Get; Prentzell, Rehbein, Sandoval, De Meulemeester, Baumeister, Brohée, Berdel B, Bockwoldt M, Carroll B, Chowdhury, von Deimling A, Demetriades, Figlia, de Arauj, Heberle AM, Heiland I, Holzwarth, Huber, Jaworski J, Kedra, Kern, Kopach, Korolchuk VI, van't Land-Kuper, Macias, Nellist, Palm, Pusch S, Ramos Pittol, Reil, Reintjes, Reuter, Sampson JR, Scheldeman, Siekierska A, Stefan, Teleman, Thomas, Torres-Quesada, Trump S, West, de Witte P, Woltering, Yordanov, Zmorzynska, Opitz CA, Thedieck K. G3BPs tether the TSC complex to lysosomes and suppress mTORC1 signaling. Cell. 2021;184:655-674; FRIDAID 1903944; https://hdl.handle.net/10037/21857

الاتاحة: https://hdl.handle.net/10037/21857
https://doi.org/10.1016/j.cell.2020.12.024

المؤلفون: Wills, Christopher, He, Yazhou, Summers, Matthew G., Lin, Yi, Phipps, Amanda I., Watts, Katie, Law, Philip J., Al-Tassan, Nada A., Maughan, Timothy S., Kaplan, Richard, Houlston, Richard S., Peters, Ulrike, Newcomb, Polly A., Chan, Andrew T., Buchanan, Daniel D., Gallinger, Steve, Marchand, Loic L., Pai, Rish K., Shi, Qian, Alberts, Steven R., Gray, Victoria, West, Hannah D., Escott-Price, Valentina, Dunlop, Malcolm G., Cheadle, Jeremy

مصطلحات موضوعية: R Medicine (General)

وصف الملف: image/jpeg; application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/145293/2/Figure%201.jpg; https://orca.cardiff.ac.uk/id/eprint/145293/3/Figure%202.jpg; https://orca.cardiff.ac.uk/id/eprint/145293/4/Figure%203.jpg; https://orca.cardiff.ac.uk/id/eprint/145293/18/EJC_Wills%20et%20al%20manuscript_and_tables_Revised%20%28cleaned%29.pdf; Wills, Christopher https://orca.cardiff.ac.uk/view/cardiffauthors/A2395637S.html, He, Yazhou, Summers, Matthew G., Lin, Yi, Phipps, Amanda I., Watts, Katie https://orca.cardiff.ac.uk/view/cardiffauthors/A24680028.html, Law, Philip J., Al-Tassan, Nada A., Maughan, Timothy S., Kaplan, Richard, Houlston, Richard S., Peters, Ulrike, Newcomb, Polly A., Chan, Andrew T., Buchanan, Daniel D., Gallinger, Steve, Marchand, Loic L., Pai, Rish K., Shi, Qian, Alberts, Steven R., Gray, Victoria, West, Hannah D. https://orca.cardiff.ac.uk/view/cardiffauthors/A2337186L.html orcid:0000-0002-6104-6534 orcid:0000-0002-6104-6534, Escott-Price, Valentina https://orca.cardiff.ac.uk/view/cardiffauthors/A015705M.html orcid:0000-0003-1784-5483 orcid:0000-0003-1784-5483, Dunlop, Malcolm G. and Cheadle, Jeremy https://orca.cardiff.ac.uk/view/cardiffauthors/A0702554.html orcid:0000-0001-9453-8458 orcid:0000-0001-9453-8458 2021. Genome-wide search for determinants of survival in 1,926 patients with advanced colorectal cancer with follow-up in over 22,000 patients. European Journal Of Cancer 159 , pp. 247-258. 10.1016/j.ejca.2021.09.047 https://doi.org/10.1016/j.ejca.2021.09.047 Item availability restricted. file file file file

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/145293/
https://doi.org/10.1016/j.ejca.2021.09.047
https://orca.cardiff.ac.uk/id/eprint/145293/2/Figure%201.jpg
https://orca.cardiff.ac.uk/id/eprint/145293/3/Figure%202.jpg
https://orca.cardiff.ac.uk/id/eprint/145293/4/Figure%203.jpg
https://orca.cardiff.ac.uk/id/eprint/145293/18/EJC_Wills%20et%20al%20manuscript_and_tables_Revised%20%28cleaned%29.pdf

المؤلفون: Collaborative Group on Duodenal Polyposis in MAP, Thomas, Laura E., Hurley, Joanna J., Alonso Sánchez, Ángel, Aznárez, M. Rosario, Backman, Ann Sofie, Bjork, Jan, Capellá, G. (Gabriel), Clark, Susan K., Colas, Chrystelle, Dekker, Evelien, Dolwani, Sunil, Ghorbanoghli, Zeinab, Gonn, Mark, González Romero, S., Hes, Frederik J., Jundi, Hala, Kelland, Sarah, Latchford, Andrew R., Leon Brito, Helena, Lynch, Patrick M., Meuser, Elena, Mork, Maureen E., Mort, Matthew, Navarro García, Matilde, Nielsen, Maartje, Parc, Yann, Ricci, Maria T., Saurin, Jean Christophe, van der Tuin, Karin, Vasen, Hans, Vilar, Eduardo, Vinet, Olivier, Vitellaro, Marco, Walton, Sarah Jane, West, Hannah D., Sampson, Julian R.

المصدر: Articles publicats en revistes (Ciències Clíniques)

مصطلحات موضوعية: Endoscòpia, Càncer, Estudi de casos, Endoscopy, Cancer, Case studies

وصف الملف: 3 p.; application/pdf

Relation: Reproducció del document publicat a: https://doi.org/10.1053/j.gastro.2020.10.038; Gastroenterology, 2021, vol. 160, num. 3, p. 952-954; https://doi.org/10.1053/j.gastro.2020.10.038; http://hdl.handle.net/2445/174729; 706868

الاتاحة: http://hdl.handle.net/2445/174729

المؤلفون: Thomas, Laura E., Hurley, Joanna J., Sanchez, Angel Alonso, Aznárez, M. Rosario, Backman, Ann-Sofie, Bjork, Jan, Capella, Gabriel, Clark, Susan K., Colas, Chrystelle, Dekker, Evelien, Dolwani, Sunil, Ghorbanoghli, Zeinab, Gonn, Mark, Gonzalez Romero, S., Hes, Frederik J., Jundi, Hala, Kelland, Sarah, Latchford, Andrew R., Brito, Helena Leon, Lynch, Patrick M., Meuser, Elena, Mork, Maureen E., Mort, Matthew, Garcia, M. Navarro, Nielsen, Maartje, Parc, Yann, Ricci, Maria T., Saurin, Jean-Christophe, Tuin, Karin van der, Vasen, Hans, Vilar, Eduardo, Vinet, Olivier, Vitellaro, Marco, Walton, Sarah-Jane, West, Hannah D., Sampson, Julian R.

المساهمون: Health and Care Research Wales, Ministry of Economy and Competitiveness, FEDER, CIBERONC, Government of Catalonia

المصدر: Gastroenterology ; volume 160, issue 3, page 952-954.e4 ; ISSN 0016-5085

الاتاحة: http://dx.doi.org/10.1053/j.gastro.2020.10.038
https://api.elsevier.com/content/article/PII:S0016508520353282?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0016508520353282?httpAccept=text/plain