Zobrazeno 1 - 10
of 90
pro vyhledávání: '"Neoplasm Proteins / genetics"'
Autor:
Sunwoo Lee, Eguzkine Ochoa, Katy Barwick, Laura Cif, Fay Rodger, France Docquier, Belén Pérez-Dueñas, Graeme Clark, Ezequiel Martin, Siddharth Banka, Manju A Kurian, Eamonn R Maher
Publikováno v:
Lee, S, Ochoa, E, Barwick, K, Cif, L, Rodger, F, Docquier, F, Pérez-Dueñas, B, Clark, G, Martin, E, Banka, S, Kurian, M A & Maher, E R 2022, ' Comparison of methylation episignatures in KMT2B-and KMT2D-related human disorders ', Epigenomics, vol. 14, no. 9, pp. 537-547 . https://doi.org/10.2217/epi-2021-0521
Funder: Rosetrees Trust
Aim & methods: To investigate peripheral blood methylation episignatures in KMT2B-related dystonia (DYT-KMT2B), the authors undertook genome-wide methylation profiling of ∼2 M CpGs using a next-generation sequencing-bas
Aim & methods: To investigate peripheral blood methylation episignatures in KMT2B-related dystonia (DYT-KMT2B), the authors undertook genome-wide methylation profiling of ∼2 M CpGs using a next-generation sequencing-bas
Autor:
Xuan Zhou, Lijuan Wang, Jiarui Xiao, Jing Sun, Lili Yu, Han Zhang, Xiangrui Meng, Shuai Yuan, Maria Timofeeva, Philip J. Law, Richard S. Houlston, Kefeng Ding, Malcolm G. Dunlop, Evropi Theodoratou, Xue Li
Publikováno v:
Zhou, X, Wang, L, Xiao, J, Sun, J, Yu, L, Zhang, H, Meng, X, Yuan, S, Timofeeva, M, Law, P J, Houlston, R S, Ding, K, Dunlop, M G, Theodoratou, E & Li, X 2022, ' Alcohol consumption, DNA methylation and colorectal cancer risk : Results from pooled cohort studies and Mendelian randomization analysis ', International Journal of Cancer, vol. 151, no. 1, pp. 83-94 . https://doi.org/10.1002/ijc.33945
Alcohol consumption is thought to be one of the modifiable risk factors for colorectal cancer (CRC). However, the causality and mechanisms by which alcohol exerts its carcinogenic effect are unclear. We evaluated the association between alcohol consu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::387e6ec3a1c1d9acc9a11f893f6e495c
https://hdl.handle.net/20.500.11820/df01f2d1-dcc2-408e-9fa9-6bb5b0d8f4a2
https://hdl.handle.net/20.500.11820/df01f2d1-dcc2-408e-9fa9-6bb5b0d8f4a2
Autor:
Tamara Božina, Lana Ganoci, Ena Karačić, Livija Šimičević, Majda Vrkić-Kirhmajer, Iva Klarica-Domjanović, Tena Križ, Zrinka Sertić, Nada Božina
Background: Organic anion-transporting polypeptide 1B1 (OATP1B1) and the ATP-binding cassette subfamily G member 2, ABCG2, are important transporters involved in the transport of endogenous substrates and xenobiotics, including drugs. Genetic polymor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8c73f490e9e637df162d1420d7855f4
https://doi.org/10.1080/03014460.2022.2140826
https://doi.org/10.1080/03014460.2022.2140826
Autor:
Tracy O'Mara, Maxine Chen, Sally-Anne Mortlock, Dale Nyholt, Stuart MacGregor, Leanne WALLACE, Montserrat Garcia-Closas, Jolanta Lissowska, Krina Zondervan, Mark McEvoy, Peter Rogers, Mette Nyegaard
Publikováno v:
Kho, P F, Mortlock, S, Endometrial Cancer Association Consortium, International Endometriosis Genetics Consortium, Rogers, P A W, Nyholt, D R, Montgomery, G W, Spurdle, A B, Glubb, D M, O'Mara, T A & Nyegaard, M 2021, ' Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus ', Human Genetics, vol. 140, no. 9, pp. 1353-1365 . https://doi.org/10.1007/s00439-021-02312-0
Endometriosis, polycystic ovary syndrome (PCOS) and uterine fibroids have been proposed as endometrial cancer risk factors; however, disentangling their relationships with endometrial cancer is complicated due to shared risk factors and comorbidities
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd533e78d75b151c7576c0aa30e47b1e
https://vbn.aau.dk/da/publications/d0b9177f-5536-4dbc-8363-0715ee0880dc
https://vbn.aau.dk/da/publications/d0b9177f-5536-4dbc-8363-0715ee0880dc
Autor:
Angelika Rieß, Shabab B. Hannan, Hessa S. Alsaif, Tadahiro Mitani, Ghassan Balousha, Siddharth Banka, Kendall C. Parks, Reza Azizi Malamiri, Henry Houlden, James R. Lupski, Elliott H. Sherr, Emanuela Argilli, Joseph J. Gleeson, Osama Balousha, Jakob Admard, Thomas Nägele, Adam Jackson, Zaid Ghanim, Alistair T. Pagnamenta, Ana Velic, Sarah Dyack, Reza Maroofian, Holger Hengel, Hamad Al-Zaidan, Stefanie Schuster, Amber Begtrup, Neda Mazaheri, Helen Kingston, Stephan Ossowski, Davut Pehlivan, Ludger Schöls, Mohammad Yahya Vahidi Mehrjardi, Stefan Hauser, Tobias B. Haack, Sara MacKay, Gholamreza Shariati, Hamid Galehdari, Mathew Osmond, Nicolas Casadei, Martin Fleger, Sevcan Tug Bozdogan, Andreas Kurringer, Ulrich A. Schatz, Boris Macek, Fowzan S. Alkuraya, Mohammadreza Dehghani
Publikováno v:
American journal of human genetics, vol 108, iss 6
The American journal of human genetics 108(6), 1069-1082 (2021). doi:10.1016/j.ajhg.2021.04.024
American Journal of Human Genetics
Care4Rare Canada Consortium 2021, ' Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1069-1082 . https://doi.org/10.1016/j.ajhg.2021.04.024
The American journal of human genetics 108(6), 1069-1082 (2021). doi:10.1016/j.ajhg.2021.04.024
American Journal of Human Genetics
Care4Rare Canada Consortium 2021, ' Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1069-1082 . https://doi.org/10.1016/j.ajhg.2021.04.024
Summary BCAS3 microtubule-associated cell migration factor (BCAS3) is a large, highly conserved cytoskeletal protein previously proposed to be critical in angiogenesis and implicated in human embryogenesis and tumorigenesis. Here, we established BCAS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02b3a8a3a40ba3c0e4b68246c46199e4
https://escholarship.org/uc/item/7rn0f207
https://escholarship.org/uc/item/7rn0f207
Autor:
Robert E. Lewis, Robert A. Svoboda, Kurt W. Fisher, Chaitra Rao, Hans Clevers, Chittibabu Guda, Adrian R. Black, Siddesh Southekal, Tomohiro Mizutani, Danielle E. Frodyma, Keith R. Johnson
Publikováno v:
eLife, 10. eLife Sciences Publications
eLife, Vol 10 (2021)
eLife
eLife, Vol 10 (2021)
eLife
The epithelial-to-mesenchymal transition (EMT) is considered a transcriptional process that induces a switch in cells from a polarized state to a migratory phenotype. Here, we show that KSR1 and ERK promote EMT-like phenotype through the preferential
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95bb2042ad67232ddc7d12f35e2d41bc
https://pure.knaw.nl/portal/en/publications/a93f93c2-06c8-4529-b2df-02797c4ce103
https://pure.knaw.nl/portal/en/publications/a93f93c2-06c8-4529-b2df-02797c4ce103
Autor:
Seham Alameer, Tobias Schwerd, Giuseppe Indolfi, Joseph A. Church, Adelheid Cerwenka, Dominic Lenz, Ivo Barić, Jidnyasa Gujar, Thomas Giese, Johann Greil, Christian Staufner, Jens Pahl, Felix Distelmaier, Georg F. Hoffmann, Eberhard Lurz, Nikolas Boy, Anke Dick, Bianca Peters, Ellen Crushell, Holger Prokisch, Christoph Klein, Meena Balasubramanian, Stefan Kölker, Fabian Hauck, Daniele Serranti
Publikováno v:
J. Clin. Immunol., DOI: 10.1007/s10875-021-01110-7 (2021)
Journal of Clinical Immunology
Journal of Clinical Immunology
Purpose Biallelic pathogenic NBAS variants manifest as a multisystem disorder with heterogeneous clinical phenotypes such as recurrent acute liver failure, growth retardation, and susceptibility to infections. This study explores how NBAS-associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7176568d4fc4003562f22a1716e15672
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62807
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62807
Autor:
Jane E. Aubin, Geoffrey Vargas, Edith Bonnelye, Sophie Vacher, Marie Brevet, Pascal Reboul, M Filipits, Ivan Bièche, C Boyault, W Jacot, Lamia Bouazza, Sandra Geraci, Keltouma Driouch, Francesco Pantano, Michael Gnant, Catherine Alix-Panabières, M Gervais, Laure Cayrefourcq, Philippe Clézardin, M Bouchet, M Mazel, Martine Croset, Claire Benetollo, C Kan, Martine Duterque-Coquillaud
Publikováno v:
Oncogene
Oncogene, Nature Publishing Group, 2019, 38 (7), pp.950-964. ⟨10.1038/s41388-018-0579-3 ⟩
Oncogene, Nature Publishing Group, 2019, 38 (7), pp.950-964. ⟨10.1038/s41388-018-0579-3⟩
Oncogene, 2019, 38 (7), pp.950-964. ⟨10.1038/s41388-018-0579-3⟩
Oncogene, Nature Publishing Group, 2019, 38 (7), pp.950-964. ⟨10.1038/s41388-018-0579-3 ⟩
Oncogene, Nature Publishing Group, 2019, 38 (7), pp.950-964. ⟨10.1038/s41388-018-0579-3⟩
Oncogene, 2019, 38 (7), pp.950-964. ⟨10.1038/s41388-018-0579-3⟩
International audience; Bone is the most common metastatic site for breast cancer. Estrogen-related-receptor alpha (ERRα) has been implicated in cancer cell invasiveness. Here, we established that ERRα promotes spontaneous metastatic dissemination
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::673afe46894df907867170c048c800d7
http://hdl.handle.net/20.500.12210/55264
http://hdl.handle.net/20.500.12210/55264
Autor:
Corinne Sagné, Bruno Gasnier, Christopher Ribes, Quentin Verdon, Michel Jadot, Marielle Boonen
Publikováno v:
Verdon, Q, Boonen, M, Ribes, C, Jadot, M, GASNIER, B & Sagné, C 2017, ' SNAT7 is the primary lysosomal glutamine exporter required for extracellular protein-dependent growth of cancer cells ', Proceedings of the National Academy of Sciences of the United States of America, vol. 114, no. 18, pp. E3602-E3611 . https://doi.org/10.1073/pnas.1617066114
Lysosomes degrade cellular components sequestered by autophagy or extracellular material internalized by endocytosis and phagocytosis. The macromolecule building blocks released by lysosomal hydrolysis are then exported to the cytosol by lysosomal tr
Autor:
Moncef Benkhalifa, Stéphane Viville, Sabine Kliesch, Nicolas Charlet-Berguerand, Munevver Serdarogullari, Angeline Gaucherot, Isabelle Aknin, Ozlem Okutman, Frank Tüttelmann, Viviana Herbepin, Mustafa Bahceci, Meral Gultomruk, Ellen Goossens, Jean Marie Garnier, Valérie Lamour, Yoni Baert, Jean Muller, Emre Bakircioglu, Valerie Skory, Marius Teletin, Albrecht Röpke
Publikováno v:
Journal of Assisted Reproduction and Genetics
Journal of Assisted Reproduction and Genetics, Springer Verlag, 2017, 34 (5), pp.683-694. ⟨10.1007/s10815-017-0900-z⟩
Journal of Assisted Reproduction and Genetics, 2017, 34 (5), pp.683-694. ⟨10.1007/s10815-017-0900-z⟩
Journal of Assisted Reproduction and Genetics, Springer Verlag, 2017, 34 (5), pp.683-694. ⟨10.1007/s10815-017-0900-z⟩
Journal of Assisted Reproduction and Genetics, 2017, 34 (5), pp.683-694. ⟨10.1007/s10815-017-0900-z⟩
PURPOSE: The purpose of this study was to identify mutations that cause non-syndromic male infertility using whole exome sequencing of family cases. METHODS: We recruited a consanguineous Turkish family comprising nine siblings with male triplets; tw