Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Victoria E. R. Parker"'
Autor:
Inma M. Berenjeno, Roberto Piñeiro, Sandra D. Castillo, Wayne Pearce, Nicholas McGranahan, Sally M. Dewhurst, Valerie Meniel, Nicolai J. Birkbak, Evelyn Lau, Laurent Sansregret, Daniele Morelli, Nnennaya Kanu, Shankar Srinivas, Mariona Graupera, Victoria E. R. Parker, Karen G. Montgomery, Larissa S. Moniz, Cheryl L. Scudamore, Wayne A. Phillips, Robert K. Semple, Alan Clarke, Charles Swanton, Bart Vanhaesebroeck
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-15 (2017)
Activated PI3K causes cancer, but the role of active PI3K mutations in early stages of malignancy are unclear. Here, the authors show in a mouse model that active PI3K induces centrosome amplification via AKT, ROCK, CDK2/Cyclin E and nucleophosmin, a
Externí odkaz:
https://doaj.org/article/ef3433ccebdb4fec8e066692342a604d
Autor:
Daniel M Bean, Peter J Greasley, Philip Ambery, Phillip R Hunt, Nerissa Hoi Ching Lee, Steven J Kiddle, Shardul Chandankhede, Shubh Agrawal, Victoria E R Parker
Publikováno v:
BMJ Open Gastroenterology, Vol 10, Iss 1 (2023)
Objective Cirrhosis describes the end-stage of chronic liver disease. Irreversible changes in the liver cause portal hypertension, which can progress to serious complications and death. Only a few studies with small sample sizes have investigated the
Externí odkaz:
https://doaj.org/article/3f6b62f582ac49219c5a5c61e6207f6d
Autor:
Marc Bardou, Pierre Vabres, Laurence Faivre, Annabel Maruani, Victoria E R Parker, A. Phan, Christine Chiaverini, L. Martin, Jill Clayton-Smith, C. Fleck, Maxime Luu, Tristan Mirault, Fanny Morice-Picard, M. Carpentier, Marie-Line Jacquemont, Hervé Devilliers, Marjolaine Willems, A. Maurer, Romaric Loffroy, Didier Bessis, Florence Petit, Robert K. Semple, M. Yousfi
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, ⟨10.1038/s41436-021-01290-y⟩
Luu, M, Vabres, P, Devilliers, H, Loffroy, R, Phan, A, Martin, L, Morice-Picard, F, Petit, F, Willems, M, Bessis, D, Jacquemont, M-L, Maruani, A, Chiaverini, C, Mirault, T, Clayton-Smith, J, Carpentier, M, Fleck, C, Maurer, A, Yousfi, M, Parker, V E R, Semple, R K, Bardou, M & Faivre, L 2021, ' Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and KLIPPEL TRENAUNAY SYNDROME (KTS): the TOTEM trial, a phase 1/2 multicentre, open-label, single-arm study ', Genetics in Medicine . https://doi.org/10.1038/s41436-021-01290-y
Genetics in Medicine, Nature Publishing Group, 2021, ⟨10.1038/s41436-021-01290-y⟩
Luu, M, Vabres, P, Devilliers, H, Loffroy, R, Phan, A, Martin, L, Morice-Picard, F, Petit, F, Willems, M, Bessis, D, Jacquemont, M-L, Maruani, A, Chiaverini, C, Mirault, T, Clayton-Smith, J, Carpentier, M, Fleck, C, Maurer, A, Yousfi, M, Parker, V E R, Semple, R K, Bardou, M & Faivre, L 2021, ' Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and KLIPPEL TRENAUNAY SYNDROME (KTS): the TOTEM trial, a phase 1/2 multicentre, open-label, single-arm study ', Genetics in Medicine . https://doi.org/10.1038/s41436-021-01290-y
International audience; ABSTRACT Purpose PIK3CA pathogenic variants in the PIK3CA-related overgrowth spectrum (PROS) activate phosphoinositide 3-kinase signaling, providing a rationale for targeted therapy, but no drug has proven efficacy and safety
Autor:
Victoria E. R. Parker, Thuong Hoang, Heike Schlichthaar, Fraser W. Gibb, Barbara Wenzel, Maximillian G. Posch, Ludger Rose, Yi‐Ting Chang, Marcella Petrone, Lars Hansen, Philip Ambery, Lutz Jermutus, Hiddo J. L. Heerspink, Rory J. McCrimmon
Publikováno v:
Diabetes, Obesity and Metabolism, 24(7), 1360-1369. Wiley
Aim: To assess the efficacy, safety and tolerability of cotadutide in patients with type 2 diabetes mellitus and chronic kidney disease.Materials and Methods: In this phase 2a study (NCT03550378), patients with body mass index 25-45 kg/m2, estimated
Autor:
Yannis Duffourd, Catherine Sarret, B. Catteau, Rachel G. Knox, Chloé Quélin, Cyril Mignot, Martin Chevarin, P. Callier, Diana Rodriguez, Alexis Arzimanoglou, Robert Olaso, David Geneviève, Arthur Sorlin, Sylvie Odent, Christel Thauvin, Victoria E. R. Parker, Pierre Vabres, Louise Goujon, Malika Keddar, Melissa Riachi, Sylvie Fraitag, Laurence Faivre, Emmanuelle Blanchard, Satyamaanasa Polubothu, Marie-Line Jacquemont, Jean-Baptiste Rivière, Anne Boland, Jean-François Deleuze, Paul Rollier, Véronique Darmency, Marie-Hélène Aubriot-Lorton, Yline Capri, V. Carmignac, Daniel Amram, Catherine Vincent-Delorme, Paul Kuentz, Marc Delepine, Didier Bessis, Robert K. Semple, Sarah Grotto, Veronica A. Kinsler, Laurent Guibaud, Christophe Philippe, Jean-Benoît Courcet
Publikováno v:
Carmignac, V, Mignot, C, Blanchard, E, Kuentz, P, Aubriot-Lorton, M-H, Parker, V E R, Sorlin, A, Fraitag, S, Courcet, J-B, Duffourd, Y, Rodriguez, D, Knox, R G, Polubothu, S, Boland, A, Olaso, R, Delepine, M, Darmency, V, Riachi, M, Quelin, C, Rollier, P, Goujon, L, Grotto, S, Capri, Y, Jacquemont, M-L, Odent, S, Amram, D, Chevarin, M, Vincent-Delorme, C, Catteau, B, Guibaud, L, Arzimanoglou, A, Keddar, M, Sarret, C, Callier, P, Bessis, D, Geneviève, D, Deleuze, J-F, Thauvin, C, Semple, R K, Philippe, C, Rivière, J-B, Kinsler, V A, Faivre, L & Vabres, P 2021, ' Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities. ', Genetics in Medicine . https://doi.org/10.1038/s41436-021-01161-6
Genetics in Medicine
Genet Med
Genetics in Medicine, 2021, 23 (8), pp.1484-1491. ⟨10.1038/s41436-021-01161-6⟩
Genetics in Medicine
Genet Med
Genetics in Medicine, 2021, 23 (8), pp.1484-1491. ⟨10.1038/s41436-021-01161-6⟩
Hypomelanosis of Ito (HI) is a skin marker of somatic mosaicism. Mosaic MTOR pathogenic variants have been reported in HI with brain overgrowth. We sought to delineate further the pigmentary skin phenotype and clinical spectrum of neurodevelopmental
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56e9636f25224977f95394e626ab0731
https://www.repository.cam.ac.uk/handle/1810/326616
https://www.repository.cam.ac.uk/handle/1810/326616
Autor:
Eulalia Baselga, Jill Clayton-Smith, Pierre Vabres, Alon Kashanian, Grazia M.S. Mancini, Victor Martinez-Glez, Laurence Faivre, Moise Danielpour, Marie-Cécile Manière, Kim M. Keppler-Noreuil, Robert K. Semple, Marie-Claire Y. de Wit, Victoria E. R. Parker, John M. Graham, Myfanwy Rawson, Sofia Douzgou, Leslie G. Biesecker, Siddharth Srivastava, Paul Kuentz, Ghayda M. Mirzaa
Publikováno v:
Clin Genet
Douzgou, S, Rawson, M, Baselga, E, Danielpour, M, Faivre, L, Kashanian, A, Keppler-noreuil, K M, Kuentz, P, Mancini, G M S, Maniere, M, Martinez-glez, V, Parker, V E, Semple, R K, Srivastava, S, Vabres, P, Wit, M Y, Graham, J M, Clayton-smith, J, Mirzaa, G M & Biesecker, L G 2021, ' A standard of care for individuals with PIK3CA -related disorders: an international expert consensus statement ', Clinical genetics . https://doi.org/10.1111/cge.14027
Douzgou, S, Rawson, M, Baselga, E, Danielpour, M, Faivre, L, Kashanian, A, Keppler-noreuil, K M, Kuentz, P, Mancini, G M S, Maniere, M, Martinez-glez, V, Parker, V E, Semple, R K, Srivastava, S, Vabres, P, Wit, M Y, Graham, J M, Clayton-smith, J, Mirzaa, G M & Biesecker, L G 2021, ' A standard of care for individuals with PIK3CA -related disorders: an international expert consensus statement ', Clinical genetics . https://doi.org/10.1111/cge.14027
Growth promoting variants in PIK3CA cause a spectrum of developmental disorders, depending on the developmental timing of the mutation and tissues involved. These phenotypically heterogeneous entities have been grouped as PIK3CA-Related Overgrowth Sp
Autor:
Juris J. Meier, Tao Wang, Leona Plum-Moerschel, Aidan T Cooper, Philip Ambery, Victoria E R Parker, Darren Robertson, Beate M. Klaus, Tim Heise, Heike Schlichthaar, David C. Hornigold, Marcella Petrone, Boaz Hirshberg, Maximilian G. Posch
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 105:803-820
ContextCotadutide is a dual receptor agonist with balanced glucagon-like peptide-1 and glucagon activity.ObjectiveTo evaluate different doses of cotadutide and investigate underlying mechanisms for its glucose-lowering effects.Design/settingRandomize
Autor:
Catherine Sarret, Satyamaanasa Polubothu, V. Carmignac, Daniel Amram, Anne Boland, Chloé Quélin, Véronique Darmency, Christophe Philippe, Emmanuelle Blanchard, Martin Chevarin, P. Callier, Veronica A. Kinsler, Yannis Duffourd, Robert Olaso, Jean-Baptiste Rivière, Marie-Hélène Aubriot-Lorton, Sylvie Fraitag, Christel Thauvin, Malika Keddar, B. Catteau, Alexis Arzimanoglou, Cyril Mignot, Rachel G. Knox, Didier Bessis, Sarah Grotto, Robert K. Semple, Marie-Line Jacquemont, Arthur Sorlin, Sylvie Odent, David Geneviève, Laurent Guibaud, Melissa Riachi, Yline Capri, Pierre Vabres, Victoria E. R. Parker, Louise Goujon, Jean-Benoît Courcet, Laurence Faivre, Jean-François Deleuze, Paul Rollier, Marc Delepine, Catherine Vincent-Delorme, Paul Kuentz, Diana Rodriguez
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 2021, 23 (8), pp.1585. ⟨10.1038/s41436-021-01217-7⟩
Genetics in Medicine, 2021, 23 (8), pp.1585. ⟨10.1038/s41436-021-01217-7⟩
International audience
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 172:402-421
The phosphatidylinositol-3-kinase (PI3K)/AKT/mTOR signaling pathway plays an essential role in regulation of normal cell growth, metabolism, and survival. Somatic activating mutations in the PI3K/AKT/mTOR pathway are among the most common mutations i
Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly
Autor:
Adrien Sulák, Márta Széll, Rachel G. Knox, Katalin Farkas, Emese Horváth, Nikoletta Nagy, Robert K. Semple, Victoria E. R. Parker, Kornélia Tripolszki
Publikováno v:
European Journal of Medical Genetics. 59:223-226
Isolated macrodactyly (OMIM 155500) belongs to a heterogeneous group of overgrowth syndromes. It is a congenital anomaly resulting in enlargement of all tissues localized to the terminal portions of a limb and caused by somatic mutations in the phosp