Zobrazeno 1 - 10 of 33 pro vyhledávání: '"genetics, Promoter Regions"'
1
Novel implications of a strictly monomorphic (GCC) repeat in the human PRKACB gene
Autor: Ali Bozorgmehr, Mostafa Tavakoli, Zahra Jafarian, Hossein Afshar, Razieh Moayedi, Maryam Keshavarz, Mina Ohadi, Safoura Khamse
Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Scientific reports 11(1), 20629 (2021). doi:10.1038/s41598-021-99932-3
Scientific Reports
PRKACB (Protein Kinase CAMP-Activated Catalytic Subunit Beta) is predominantly expressed in the brain, and regulation of this gene links to neuroprotective effects against tau and Aβ-induced toxicity. Here we studied a (GCC)-repeat spanning the core
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32360dac237b0e73b169c40eb7438447
https://doi.org/10.1038/s41598-021-99932-3
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2
TERT promoter mutation and chromosome 6 loss define a high-risk subtype of ependymoma evolving from posterior fossa subependymoma
Autor: Peter Vajkoczy, Leonille Schweizer, Franziska Eckert, Katharina Filipski, David Kaul, Georgios Ntoulias, Ulrich Schüller, Arend Koch, Frank L. Heppner, Felix Thierfelder, Julia Onken, Hee-Yeong Kim, Sven-Axel May, Patrick N. Harter, Dominic Edelmann, Michael Müther, David Capper, Christian Thomas, Carola Geiler, Werner Paulus, Martin Hasselblatt, Malte Träger, Alexandra Förster, Patrick Soschinski, Jens Schittenhelm, Walter Stummer
Publikováno v: Acta neuropathologica 141(6), 959-970 (2021). doi:10.1007/s00401-021-02300-8
Acta Neuropathologica
Subependymomas are benign tumors characteristically encountered in the posterior fossa of adults that show distinct epigenetic profiles assigned to the molecular group “subependymoma, posterior fossa” (PFSE) of the recently established DNA methyl
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::404c70d44576d8d840dcefd5f3d59eec
https://doi.org/10.17169/refubium-39497
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3
Cortical circuit alterations precede motor impairments in Huntington’s disease mice
Autor: Sara Gutiérrez-Ángel, Elena Katharina Schulz-Trieglaff, Fabian Hosp, Kerstin Voelkl, Ruediger Klein, Matthias Mann, Jakob M. Bader, Irina Dudanova, Sabine Liebscher, Johanna Burgold, Thomas Arzberger
Publikováno v: Scientific Reports
Scientific reports 9(1), 6634 (2019). doi:10.1038/s41598-019-43024-w
Scientific Reports, Vol 9, Iss 1, Pp 1-13 (2019)
Huntington’s disease (HD) is a devastating hereditary movement disorder, characterized by degeneration of neurons in the striatum and cortex. Studies in human patients and mouse HD models suggest that disturbances of neuronal function in the neocor
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b924ac6a715e3266f00b0adb7787d357
https://doi.org/10.1038/s41598-019-43024-w
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4
Histone H3.3G34-Mutant Interneuron Progenitors Co-opt PDGFRA for Gliomagenesis
Autor: Mathieu Blanchette, Albert M. Berghuis, Hiromichi Suzuki, Pratiti Bandopadhayay, Dong Anh Khuong-Quang, Dylan M. Marchione, Nicolas De Jay, Wajih Jawhar, Angelia V. Bassenden, Djihad Hadjadj, Ashot S. Harutyunyan, Shriya Deshmukh, Steffen Albrecht, Michele Zeinieh, Nikoleta Juretic, Paolo Salomoni, Katerina Vanova, Ales Vicha, Stefan M. Pfister, Manav Pathania, Selin Jessa, Almos Klekner, Leonie G. Mikael, CM Kramm, David T.W. Jones, Tenzin Gayden, Sebastian Brandner, Michal Zapotocky, Nicola Maestro, Eleanor Woodward, Alexander G. Weil, David S. Ziegler, Jordan R. Hansford, Steven Hébert, Frank Dubois, Benjamin Ellezam, Deli A, Damien Faury, Véronique Lisi, Augusto Faria Andrade, Andrey Korshunov, Mariella G. Filbin, Michael D. Taylor, Claudia L. Kleinman, Andrea Bajic, Carol C.L. Chen, Caterina Russo, Nada Jabado, Peter Hauser, Benjamin A. Garcia, Stephen C. Mack, Keith L. Ligon, David Sumerauer, Lenka Krskova, Jason Karamchandani, Rameen Beroukhim, Rola Dali, László Bognár, Dominik Sturm, József Virga, Marie Coutelier, Livia Garzia, Paul G Ekert, Josef Zamecnik
Publikováno v: Cell 183(6), 1617-1633.e22 (2020). doi:10.1016/j.cell.2020.11.012
Cell
Histone H3.3 glycine 34 to arginine/valine (G34R/V) mutations drive deadly gliomas and show exquisite regional and temporal specificity, suggesting a developmental context permissive to their effects. Here, we show that 50% of G34R/V-tumours (n=95) b
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a47ac89beefcaff088e65fd3f8a3589
https://doi.org/10.1016/j.cell.2020.11.012
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5
Shared activity patterns arising at genetic susceptibility loci reveal underlying genomic and cellular architecture of human disease
Autor: Carsten O. Daub, Timo Lassmann, Andrew D. Bretherick, Sara Clohisey, David A. Hume, Vladimir B. Bajic, J K Baillie, Ulf Schaefer, Eli A. Stahl, Michael Rehli, Naoto Kondo, Lucile Neyton, Yoshihide Hayashizaki, Alan Gray, Peter Heutink, Piero Carninci, Damian J. Mole, Jun Kawai, Marina Lizio, Geoffrey J. Faulkner, Christine A. Wells, Jeffrey C. Barrett, Harukazu Suzuki, James Bentley Brown, Hideya Kawaji, Chris Haley, Robin Andersson, Albert Tenesa, Masayoshi Itoh, Alistair R. R. Forrest, Tom C. Freeman, Jack Satsangi, Nir Hacohen, Albin Sandelin
Publikováno v: PLOS Computational Biology
PLoS computational biology, vol 14, iss 3
PLoS Computational Biology
2018, ' Shared activity patterns arising at genetic susceptibility loci reveal underlying genomic and cellular architecture of human disease ', PLoS Computational Biology, vol. 14, no. 3, pp. e1005934 . https://doi.org/10.1371/journal.pcbi.1005934
PLoS Computational Biology, Vol 14, Iss 3, p e1005934 (2018)
Baillie, J K, Bretherick, A, Haley, C S, Clohisey, S, Gray, A, Neyton, L P A, Barrett, J, Stahl, E A, Tenesa, A, Andersson, R, Brown, J B, Faulkner, G J, Lizio, M, Schaefer, U, Daub, C, Itoh, M, Kondo, N, Lassmann, T, Kawai, J, Mole, D, Bajic, V B, Heutink, P, Rehli, M, Kawaji, H, Sandelin, A G, Suzuki, H, Satsangi, J, Wells, C A, Hacohen, N, Freeman, T C, Hayashizaki, Y, Carninci, P, Forrest, A R R & Hume, D A 2018, ' Shared activity patterns arising at genetic susceptibility loci reveal underlying genomic and cellular architecture of human disease ', PLoS Computational Biology, vol. 14, no. 3, e1005934 . https://doi.org/10.1371/journal.pcbi.1005934
PLoS Computational Biology 14(3), e1005934 (2018). doi:10.1371/journal.pcbi.1005934
Genetic variants underlying complex traits, including disease susceptibility, are enriched within the transcriptional regulatory elements, promoters and enhancers. There is emerging evidence that regulatory elements associated with particular traits
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65bdc7b83d18e344f9e30c3b37a55df2
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6
ATF3 Is a Key Regulator of Macrophage IFN Responses
Autor: Seth L. Masters, Larisa I. Labzin, Dieter Lütjohann, Rainer Stahl, Joachim L. Schultze, Dominic De Nardo, Wolfgang Krebs, Eicke Latz, Susanne Schmidt, Kathrin Klee, Marc Beyer
Publikováno v: The journal of immunology 195(9), 4446-4455 (2015). doi:10.4049/jimmunol.1500204
Cytokines and IFNs downstream of innate immune pathways are critical for mounting an appropriate immune response to microbial infection. However, the expression of these inflammatory mediators is tightly regulated, as uncontrolled production can resu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8155e5809fe06772c796e66134678e9
https://doi.org/10.4049/jimmunol.1500204
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7
De novo expression of dopamine D2 receptors on microglia after stroke
Autor: Nadine Gladow, Mareike Thielke, Mihovil Mladinov, Philipp Mergenthaler, Josef Priller, Dana Bloomquist, Chotima Böttcher, Claudia Muselmann-Genschow, Dorette Freyer, Jojanneke H J Huck
Publikováno v: Journal of Cerebral Blood Flow and Metabolism, 35, 1804-11
Journal of Cerebral Blood Flow and Metabolism, 35, 11, pp. 1804-11
Journal of cerebral blood flow & metabolism 35(11), 1804-1811 (2015). doi:10.1038/jcbfm.2015.128
Item does not contain fulltext Dopamine is the predominant catecholamine in the brain and functions as a neurotransmitter. Dopamine is also a potent immune modulator. In this study, we have characterized the expression of dopamine receptors on murine
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d178ca71b8e597e0ea7ee0e5aa4b4c43
https://doi.org/10.1038/jcbfm.2015.128
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8
An integrated expression atlas of miRNAs and their promoters in human and mouse
Autor: de Rie, Yoko, Abugessaisa, Yoko, Alam, Tanvir, Arner, Yoko, Arner, Peter, Ha, Haitham, Aström, Gaby, Babina, Magda, Bertin, Yoko, Burroughs, Yoko, Carlisle, Ailsa, Daub, Yoko, Detmar, Michael, Deviatiiarov, Yoko, Fort, Yoko, Gebhard, Claudia, Goldowitz, Daniel, Guhl, Sven, Ha, Thomas, Harshbarger, Yoko, Hasegawa, Yoko, Hashimoto, Yoko, Herlyn, Meenhard, Heutink, Peter, Hitchens, Kelly, Hon, Yoko, Huang, Edward, Ishizu, Yoko, Kai, Chieko, Kasukawa, Yoko, Klinken, Peter, Lassmann, Yoko, Lecellier, Charles-Henri, Lee, Weonju, Lizio, Yoko, Makeev, Vsevolod, Mathelier, Anthony, Medvedeva, Yulia, Mejhert, Niklas, Mungall, Christopher, Noma, Yoko, Ohshima, Mitsuhiro, Okada-Hatakeyama, Yoko, Persson, Helena, Rizzu, Patrizia, Roudnicky, Filip, Sætrom, Pål, Sato, Hiroki, Severin, Yoko, Shin, Yoko, Swoboda, Rolf, Tarui, Yoko, Toyoda, Hiroo, Vitting-Seerup, Kristoffer, Winteringham, Louise, Yamaguchi, Yoko, Yasuzawa, Kayoko, Yoneda, Misako, Yumoto, Noriko, Zabierowski, Susan, Zhang, Peter, Wells, Christine, Summers, Kim, Kawaji, Hideya, Sandelin, Albin, Rehli, Michael, Hayashizaki, Yoshihide, Carninci, Piero, Forrest, Alistair, de Hoon, Michiel, de Rie, Derek, Abugessaisa, Imad, Arner, Erik, Ashoor, Haitham, Bertin, Nicolas, Burroughs, A Maxwell, Daub, Carsten, Deviatiiarov, Ruslan, Fort, Alexandre, Ha, Jayson, Ha, Akira, Ha, Kosuke, Hon, Chung Chau, Ishizu, Yuri, Kasukawa, Takeya, Lassmann, Timo, Lizio, Marina, Noma, Shohei, Ha, Mariko, Severin, Jessica, Shin, Jay, Tarui, Hiroshi, Ha, Yoshihide
Publikováno v: Nature biotechnology, vol 35, iss 9
Nature biotechnology 35(9), 872-878 (2017). doi:10.1038/nbt.3947
Nature Biotechnology
Nature Biotechnology, Nature Publishing Group, 2017, 35 (9), pp.872-878. ⟨10.1038/nbt.3947⟩
de Rie, D 2017, ' An integrated expression atlas of miRNAs and their promoters in human and mouse ', Nature Biotechnology, vol. 35, no. 9, pp. 872-878 . https://doi.org/10.1038/nbt.3947
International audience; MicroRNAs (miRNAs) are short non-coding RNAs with key roles in cellular regulation. As part of the fifth edition of the Functional Annotation of Mammalian Genome (FANTOM5) project, we created an integrated expression atlas of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1873e9fffa1b7e1d9b1648f6e84c5cad
https://escholarship.org/uc/item/6pr3p0r9
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10
The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter
Autor: Gijselinck, I, Van Mossevelde, S, van der Zee, J, Sieben, Anne, Engelborghs, S, De Bleecker, Jan, Ivanoiu, A, Deryck, O, Edbauer, D, Zhang, M, Heeman, B, Baumer, V, Van den Broeck, M, Mattheijssens, M, Peeters, K, Rogaeva, E, De Jonghe, P, Cras, P, Martin, J-J, de Deyn, PP, Cruts, M, Van Broeckhoven, C, BELNEU consortium, the, Dermaut, Bart, Santens, Patrick, Van Langenhove, Tim
Publikováno v: MOLECULAR PSYCHIATRY
Molecular Psychiatry
Molecular psychiatry
Molecular psychiatry 21(8), 1112-1124 (2015). doi:10.1038/mp.2015.159
Molecular Psychiatry, Vol. 21, no. 8, p. 1112-1124 (2016)
Pathological expansion of a G(4)C(2) repeat, located in the 5' regulatory region of C9orf72, is the most common genetic cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). C9orf72 patients have highly variable o
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42f2dea35c03de12eaaca89b42e618a0
https://doi.org/10.1038/mp.2015.159
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