Zobrazeno 1 - 10
of 67
pro vyhledávání: '"Tumor Suppressor Proteins / genetics"'
Melanoma is a highly aggressive cancer originating from melanocytes. Its etiopathogenesis is strongly related to genetic, epigenetic, and environmental factors. Melanomas encountered in clinical practice are predominantly sporadic, whereas hereditary
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a274479d8fb41477b8064825b2e36065
https://doi.org/10.17305/bjbms.2021.7378
https://doi.org/10.17305/bjbms.2021.7378
Autor:
Jeroen A. A. van de Pol, Paranita Ferronika, Helga Westers, Manon van Engeland, Martijn M. Terpstra, Kim M. Smits, Kim de Lange, Piet A. van den Brandt, Rolf H. Sijmons, Leo J. Schouten, Klaas Kok
Publikováno v:
Scientific Reports, 12(1):6478. Nature Publishing Group
In this study, we investigate the influence of the seven genes (VHL, PBRM1, SETD2, BAP1, KDM5C, MTOR and TP53) most frequently mutated in clear cell renal cell cancer (ccRCC) on cancer-specific survival (CSS) in the prospective Netherlands Cohort Stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74ea82fcf924644d44b2538a1777bfb3
https://doi.org/10.1038/s41598-022-10455-x
https://doi.org/10.1038/s41598-022-10455-x
Publikováno v:
Human Molecular Genetics. 27(3):529-545
DNAAF1 (LRRC50) is a cytoplasmic protein required for dynein heavy chain assembly and cilia motility, and DNAAF1 mutations cause primary ciliary dyskinesia (PCD; MIM 613193). We describe four families with DNAAF1 mutations and complex congenital hear
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dris___00893::29715cb1fa9b3eb34aae8376eed1a930
https://doi.org/10.1093/hmg/ddx422
https://doi.org/10.1093/hmg/ddx422
Autor:
Brigitte Schlegelberger, Melanie Boerries, Ulf Tedgård, Brigitte Strahm, Gerhard Ehninger, Miriam Erlacher, John C. Achermann, Matthias Voss, Hauke Busch, Jochen Hochrein, Irith Baumann, Victor B Pastor, Lennart Nilsson, Marena R. Niewisch, Yenan T. Bryceson, Dirk Lebrecht, Jessica Boklan, Georg C. Schwabe, Ebru Tugrul Saribeyoglu, Charlotte M. Niemeyer, Henrik Hasle, Sushree Sangita Sahoo, Akiko Shimamura, Marcin W. Wlodarski
Publikováno v:
Haematologica
Pastor, V B, Sahoo, S, Boklan, J, Schwabe, G C, Saribeyoglu, E, Strahm, B, Lebrecht, D, Voss, M, Bryceson, Y T, Erlacher, M, Ehninger, G, Niewisch, M, Schlegelberger, B, Baumann, I, Achermann, J C, Shimamura, A, Hochrein, J, Tedgård, U, Nilsson, L, Hasle, H, Boerries, M, Busch, H, Niemeyer, C M & Wlodarski, M W 2018, ' Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7 ', Haematologica, vol. 103, no. 3, pp. 427-437 . https://doi.org/10.3324/haematol.2017.180778
Pastor, V B, Sahoo, S, Boklan, J, Schwabe, G C, Saribeyoglu, E, Strahm, B, Lebrecht, D, Voss, M, Bryceson, Y T, Erlacher, M, Ehninger, G, Niewisch, M, Schlegelberger, B, Baumann, I, Achermann, J C, Shimamura, A, Hochrein, J, Tedgård, U, Nilsson, L, Hasle, H, Boerries, M, Busch, H, Niemeyer, C M & Wlodarski, M W 2018, ' Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7 ', Haematologica, vol. 103, no. 3, pp. 427-437 . https://doi.org/10.3324/haematol.2017.180778
Familial myelodysplastic syndromes arise from haploinsufficiency of genes involved in hematopoiesis and are primarily associated with early-onset disease. Here we describe a familial syndrome in seven patients from four unrelated pedigrees presenting
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd6697ad7376bd525d80809dec365795
http://europepmc.org/articles/PMC5830370
http://europepmc.org/articles/PMC5830370
Autor:
Brian Thiessen, Olivier Chinot, Martin J B Taphoorn, Frédéric Dhermain, Jaap C. Reijneveld, Anja Gijtenbeek, Andreas von Deimling, Martin J. van den Bent, Roelien H. Enting, Elodie Vauleon, Alba A. Brandes, Monika E. Hegi, Sebastian Kurscheid, Pierre Bady, Brigitta G. Baumert, Mauro Delorenzi, Roger Stupp, Wolfgang Wick, Pim J. French, Thierry Gorlia, Khê Hoang-Xuan, Christine Marosi
Publikováno v:
Acta Neuropathologica, 135(4), 601-615
Acta Neuropathologica, 135, 4, pp. 601-615
Acta Neuropathologica, 135(4), 601-615. Springer Verlag
Acta Neuropathologica, 135, 601-615
Acta Neuropathologica, 135(4), 601-615. SPRINGER
Bady, P, Kurscheid, S, Delorenzi, M, Gorlia, T, van den Bent, M J, Hoang-Xuan, K, Vauléon, É, Gijtenbeek, A, Enting, R, Thiessen, B, Chinot, O, Dhermain, F, Brandes, A A, Reijneveld, J C, Marosi, C, Taphoorn, M J B, Wick, W, von Deimling, A, French, P, Stupp, R, Baumert, B G & Hegi, M E 2018, ' The DNA methylome of DDR genes and benefit from RT or TMZ in IDH mutant low-grade glioma treated in EORTC 22033 ', Acta Neuropathologica, vol. 135, no. 4, pp. 601-615 . https://doi.org/10.1007/s00401-018-1810-6
Acta Neuropathologica, 135(4), 601-615. Springer, Cham
Acta neuropathologica, vol. 135, no. 4, pp. 601-615
Acta Neuropathologica, 135(4), 601-615. Springer-Verlag
Acta Neuropathologica, 135, 4, pp. 601-615
Acta Neuropathologica, 135(4), 601-615. Springer Verlag
Acta Neuropathologica, 135, 601-615
Acta Neuropathologica, 135(4), 601-615. SPRINGER
Bady, P, Kurscheid, S, Delorenzi, M, Gorlia, T, van den Bent, M J, Hoang-Xuan, K, Vauléon, É, Gijtenbeek, A, Enting, R, Thiessen, B, Chinot, O, Dhermain, F, Brandes, A A, Reijneveld, J C, Marosi, C, Taphoorn, M J B, Wick, W, von Deimling, A, French, P, Stupp, R, Baumert, B G & Hegi, M E 2018, ' The DNA methylome of DDR genes and benefit from RT or TMZ in IDH mutant low-grade glioma treated in EORTC 22033 ', Acta Neuropathologica, vol. 135, no. 4, pp. 601-615 . https://doi.org/10.1007/s00401-018-1810-6
Acta Neuropathologica, 135(4), 601-615. Springer, Cham
Acta neuropathologica, vol. 135, no. 4, pp. 601-615
Acta Neuropathologica, 135(4), 601-615. Springer-Verlag
The optimal treatment for patients with low-grade glioma (LGG) WHO grade II remains controversial. Overall survival ranges from 2 to over 15 years depending on molecular and clinical factors. Hence, risk-adjusted treatments are required for optimizin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::422a15982be72bdd3ae70ac6b3775603
https://hdl.handle.net/2066/190470
https://hdl.handle.net/2066/190470
Autor:
Frederik J. Hes, Jan Maarten Cobben, Hans Morreau, Romana T. Netea-Maier, Bruce H. R. Wolffenbuttel, Gerlof D. Valk, Karin van der Tuin, Fred H. Menko, Muriel A. Adank, Bernadette P M van Nesselrooij, Neveen A. T. Hamdy, Carli M. J. Tops, Jan C. Oosterwijk, Marjolijn C.J. Jongmans
Publikováno v:
Journal of Clinical Endocrinology and Metabolism, 102, 4534-4540
Journal of clinical endocrinology and metabolism, 102(12), 4534-4540. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 102, 12, pp. 4534-4540
Journal of Clinical Endocrinology and Metabolism, 102(12), 4534-4540
van der Tuin, K, Tops, C M J, Adank, M A, Cobben, J M, Hamdy, N A T, Jongmans, M C, Menko, F H, van Nesselrooij, B P M, Netea-Maier, R T, Oosterwijk, J C, Valk, G D, Wolffenbuttel, B H R, Hes, F J & Morreau, H 2017, ' CDC73-Related Disorders : Clinical Manifestations and Case Detection in Primary Hyperparathyroidism ', The Journal of clinical endocrinology and metabolism, vol. 102, no. 12, pp. 4534-4540 . https://doi.org/10.1210/jc.2017-01249
The Journal of clinical endocrinology and metabolism, 102(12), 4534-4540. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 102(12), 4534-4540. ENDOCRINE SOC
Journal of clinical endocrinology and metabolism, 102(12), 4534-4540. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 102, 12, pp. 4534-4540
Journal of Clinical Endocrinology and Metabolism, 102(12), 4534-4540
van der Tuin, K, Tops, C M J, Adank, M A, Cobben, J M, Hamdy, N A T, Jongmans, M C, Menko, F H, van Nesselrooij, B P M, Netea-Maier, R T, Oosterwijk, J C, Valk, G D, Wolffenbuttel, B H R, Hes, F J & Morreau, H 2017, ' CDC73-Related Disorders : Clinical Manifestations and Case Detection in Primary Hyperparathyroidism ', The Journal of clinical endocrinology and metabolism, vol. 102, no. 12, pp. 4534-4540 . https://doi.org/10.1210/jc.2017-01249
The Journal of clinical endocrinology and metabolism, 102(12), 4534-4540. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 102(12), 4534-4540. ENDOCRINE SOC
Context: Heterozygous pathogenic germline variants in CDC73 predispose to the development of primary hyperparathyroidism (pHPT) and, less frequently, ossifying fibroma of the jaw and renal and uterine tumors. Clinical information on CDC73-related dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dca8796cb0daf1fb908879827070461a
https://doi.org/10.1210/jc.2017-01249
https://doi.org/10.1210/jc.2017-01249
Autor:
Forouzanfar, F., Ali, S., Wallet, C., De Rovere, M., Ducloy, C., El Mekdad, H., El Maassarani, M., Aït-Ammar, A., Van Assche, J., Boutant, E., Daouad, F., Margottin-Goguet, F., Moog, C., Van Lint, C., Schwartz, C., Rohr, O.
Publikováno v:
Scientific reports, 9 (1
Scientific Reports, Vol 9, Iss 1, Pp 1-10 (2019)
Scientific Reports
Scientific Reports, Nature Publishing Group, 2019, 9 (1), ⟨10.1038/s41598-019-48689-x⟩
Scientific Reports, Vol 9, Iss 1, Pp 1-10 (2019)
Scientific Reports
Scientific Reports, Nature Publishing Group, 2019, 9 (1), ⟨10.1038/s41598-019-48689-x⟩
Mammals have evolved many antiviral factors impacting different steps of the viral life cycle. Associated with chromatin-modifying enzymes, the cellular cofactor CTIP2 contributes to HIV-1 gene silencing in latently infected reservoirs that constitut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8dc4e9eb948bcfbf0e2442fbd58e3f2f
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/296885
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/296885
Autor:
Anne-Marie Gerdes, Karin Wadt, Maria Bejerholm Christensen, Lotte Nylandsted Krogh, Uffe Birk Jensen, Charlotte Kvist Lautrup, Anders Bojesen, Thomas van Overeem Hansen
Publikováno v:
Christensen, M B, Wadt, K, Jensen, U B, Lautrup, C K, Bojesen, A, Krogh, L N, van Overeem Hansen, T & Gerdes, A M 2019, ' Exploring the hereditary background of renal cancer in Denmark ', PLOS ONE, vol. 14, no. 4, e0215725 . https://doi.org/10.1371/journal.pone.0215725
PLoS ONE
Christensen, M B, Wadt, K, Jensen, U B, Lautrup, C K, Bojesen, A, Krogh, L N, Overeem Hansen, T V & Gerdes, A-M 2019, ' Exploring the hereditary background of renal cancer in Denmark ', PLoS ONE, vol. 14, no. 4, e0215725 . https://doi.org/10.1371/journal.pone.0215725
Christensen, M B, Wadt, K, Jensen, U B, Lautrup, C K, Bojesen, A, Krogh, L N, Overeem Hansen, T V & Gerdes, A-M 2019, ' Exploring the hereditary background of renal cancer in Denmark ', PLOS ONE, vol. 14, no. 4, e0215725, pp. 1-16 . https://doi.org/10.1371/journal.pone.0215725
Christensen, M B, Wadt, K, Jensen, U B, Lautrup, C K, Bojesen, A, Krogh, L N, Overeem Hansen, T V & Gerdes, A-M 2019, ' Exploring the hereditary background of renal cancer in Denmark ', PLOS ONE, vol. 14, no. 4, e0215725 . https://doi.org/10.1371/journal.pone.0215725
PLoS ONE, Vol 14, Iss 4, p e0215725 (2019)
PLoS ONE
Christensen, M B, Wadt, K, Jensen, U B, Lautrup, C K, Bojesen, A, Krogh, L N, Overeem Hansen, T V & Gerdes, A-M 2019, ' Exploring the hereditary background of renal cancer in Denmark ', PLoS ONE, vol. 14, no. 4, e0215725 . https://doi.org/10.1371/journal.pone.0215725
Christensen, M B, Wadt, K, Jensen, U B, Lautrup, C K, Bojesen, A, Krogh, L N, Overeem Hansen, T V & Gerdes, A-M 2019, ' Exploring the hereditary background of renal cancer in Denmark ', PLOS ONE, vol. 14, no. 4, e0215725, pp. 1-16 . https://doi.org/10.1371/journal.pone.0215725
Christensen, M B, Wadt, K, Jensen, U B, Lautrup, C K, Bojesen, A, Krogh, L N, Overeem Hansen, T V & Gerdes, A-M 2019, ' Exploring the hereditary background of renal cancer in Denmark ', PLOS ONE, vol. 14, no. 4, e0215725 . https://doi.org/10.1371/journal.pone.0215725
PLoS ONE, Vol 14, Iss 4, p e0215725 (2019)
BACKGROUND: Every year more than 800 patients in Denmark are diagnosed with renal cell carcinoma (RCC) of which 3-5% are expected to be part of a hereditary renal cancer syndrome. We performed genetic screening of causative and putative RCC-genes (VH
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65de305f7a1331ad5ebebe9680f07da2
https://pure.au.dk/portal/da/publications/exploring-the-hereditary-background-of-renal-cancer-in-denmark(1c2b74dd-9779-4823-a2eb-95b1a027ea4b).html
https://pure.au.dk/portal/da/publications/exploring-the-hereditary-background-of-renal-cancer-in-denmark(1c2b74dd-9779-4823-a2eb-95b1a027ea4b).html
Autor:
Eurico Morais-de-Sá, Mariana Osswald, Guilherme Ventura, Claudio E. Sunkel, Margarida Gonçalves, Sofia Moreira
Publikováno v:
Cell Reports, Vol 26, Iss 2, Pp 293-301.e7 (2019)
Apical-basal polarity is a common trait that underlies epithelial function. Although the asymmetric distribution of cortical polarity proteins works in a functioning equilibrium, it also retains plasticity to accommodate cell division, during which t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94d3eeaf8b354bd0dbf54ccfa656c0c8
https://hdl.handle.net/10216/136224
https://hdl.handle.net/10216/136224
Autor:
L. Burt Nabors, Thierry Gorlia, J. Straub, Olivier Chinot, Els Genbrugge, Monika E. Hegi, Mark R. Gilbert, Greg Jones, Wim Van Criekinge, Roger Stupp, Michael Weller
Publikováno v:
Clin Cancer Res
Clinical cancer research, vol. 25, no. 6, pp. 1809-1816
Clinical cancer research, vol. 25, no. 6, pp. 1809-1816
Purpose: The methylation status of the O6-methylguanine DNA methyltransferase (MGMT) gene promoter is predictive for benefit from temozolomide in glioblastoma (GBM). A clinically optimized cutoff was sought allowing patient selection for therapy with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::541f2a7bb7145dd80385e963d15f4466
https://www.zora.uzh.ch/id/eprint/161075/
https://www.zora.uzh.ch/id/eprint/161075/