Zobrazeno 1 - 10 of 68 pro vyhledávání: '"Ubiquitin-Protein Ligases/*genetics"'
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Akademický článek
Gordon Holmes syndrome – first time diagnosed in Croatia
Autor: Vesna Brinar, Karin Zibar Tomšić, David Ozretić, Franko Stepčić
Publikováno v: Liječnički vjesnik, Vol 143, Iss 3-4103, Pp 103-107 (2021)
We present a 38-year-old woman with clinical presentation of ataxia, cognitive impairment, and secondary amenorrhea with remarkable brain hyperintensities on brain magnetic resonance imaging (MRI). Clinical symptoms began at the age of 20 years with
Externí odkaz: https://doaj.org/article/ead30ae8070c46abac9f27f440c4b730
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2
Gordon Holmes syndrome – first time diagnosed in Croatia
Autor: David Ozretić, Karin Zibar Tomšić, Vesna V. Brinar, Franko Stepčić
Publikováno v: Liječnički vjesnik, Vol 143, Iss 3-4103, Pp 103-107 (2021)
We present a 38-year-old woman with clinical presentation of ataxia, cognitive impairment, and secondary amenorrhea with remarkable brain hyperintensities on brain magnetic resonance imaging (MRI). Clinical symptoms began at the age of 20 years with
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d1e10add74347a28be5191abaf0e633
https://lijecnicki-vjesnik.hlz.hr/lijecnicki-vjesnik/gordon-holmesov-sindrom-prvi-put-dijagnosticiran-u-hrvatskoj/
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3
ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling
Autor: Silvia Corrochano, Abigail Harris, Hans Clevers, Caroline Eozenou, Isabelle Stévant, Joelle Bignon-Topalovic, Nick Warr, Neila Belguith, Sara Wells, Bochra Ben Rhouma, Pam Siggers, Serge Nef, Daniel T. Grimes, Ken McElreavey, Rebecca D. Burdine, Feng Cong, Makoto Suzuki, Andy Greenfield, Danielle Sagar, Anu Bashamboo, Bon-Kyoung Koo, Raja Brauner
Publikováno v: Proceedings of the National Academy of Sciences, Vol. 115, No 21 (2018) pp. 5474-5479
Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, 2018, 115 (21), pp.5474-5479. ⟨10.1073/pnas.1801223115⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2018, 115 (21), pp.5474-5479. ⟨10.1073/pnas.1801223115⟩
Proceedings of the National Academy of Sciences of the United States of America, 115(21), 5474
Proceedings of the National Academy of Sciences of the United States of America, 115(21), 5474-5479. National Academy of Sciences
International audience; Mammalian sex determination is controlled by the antagonistic interactions of two genetic pathways: The SRY-SOX9-FGF9 network promotes testis determination partly by opposing proovarian pathways, while RSPO1/WNT-β-catenin/FOX
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f785b7c346bbb98027161ca7382405e7
https://hdl.handle.net/20.500.11755/a85a814a-a5a7-4064-9ca8-516f15a8bb58
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4
Durable response to palbociclib and letrozole in ovarian cancer withCDKN2Aloss
Autor: Sophie Clément, Pierre O. Chappuis, Alexandre Bodmer, Krisztian Homicsko, Yann Christinat, Melinda Charrier, Olivier Michielin, Petros Tsantoulis, Daniele Frisone, Thomas Alexander Mckee, Laure Thouvenin
Publikováno v: Cancer biology & therapy, vol. 21, no. 3, pp. 197-202
Cancer Biology and Therapy, Vol. 21, No 3 (2020) pp. 197-202
Alterations of the Retinoblastoma (Rb) pathway are frequent in ovarian cancer, typically resulting from CDKN2A down-regulation, CCNE1 amplification, CCND1/2 amplification, and RB1 loss. However, bi-allelic CDKN2A mutation or homozygous deletion is a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::352c882e2c41b9625dab34c1f829ff27
https://doi.org/10.1080/15384047.2019.1685291
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5
Anti-LRP5/6 VHHs promote differentiation of Wnt-hypersensitive intestinal stem cells
Autor: D. Proverbio, T. Kralj, Madelon M. Maurice, Piet Gros, Sarah Stryeck, M. Goldflam, C. Ullman, G. Hermans, T. Aastrup, R.C. van Scherpenzeel, T.Z. Bass, Ingrid Jordens, Nicola Fenderico
Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
Nature Communications
Nature Communications, 10(1), 365. Nature Publishing Group
'Nature Communications ', vol: 10, pages: 365-1-365-13 (2019)
Wnt-induced β-catenin-mediated transcription is a driving force for stem cell self-renewal during adult tissue homeostasis. Enhanced Wnt receptor expression due to mutational inactivation of the ubiquitin ligases RNF43/ZNRF3 recently emerged as a le
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76861a7482ab43d1a66ddb22e588929a
https://doaj.org/article/5a4f5bbea0514b429431ef3636e2ef04
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6
Hakai is required for stabilization of core components of the m6A mRNA methylation machinery
Autor: Mohanakarthik Ponnadai Nallasivan, Irmgard U. Haussmann, Jan B. Heidelberger, Mark Helm, Violeta Morin, Tina Lence, Migle Kazlauskiene, Nastasja Kreim, Jean-Yves Roignant, Florian Richter, Chiara Paolantoni, Dominik Jacob, Martin Jinek, Matthias Soller, Petra Beli, Praveen Bawankar
Publikováno v: Nature communications, vol. 12, no. 1, pp. 3778
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
N6-methyladenosine (m6A) is the most abundant internal modification on mRNA which influences most steps of mRNA metabolism and is involved in several biological functions. The E3 ubiquitin ligase Hakai was previously found in complex with components
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9197b6a2a94e349753dc169b857c253
https://serval.unil.ch/notice/serval:BIB_C0C803938C71
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7
RFWD2 induces cellular proliferation and selective proteasome inhibitor resistance by mediating P27 ubiquitination in multiple myeloma
Autor: Ting Lu, Li Qiao, Ye Yang, Ye Hu, Wang Wang, Mengjie Guo, Rui Li, Anja Seckinger, Fenghuang Zhan, Dirk Hose, Rongfang Wei, Miaomiao Shao, Chunyan Gu
Attal M, Lauwers-Cances V, Hulin C, Leleu X, Caillot D, Escoffre M, et al. Lenalidomide, bortezomib, and dexamethasone with transplantation for myeloma. N Engl J Med. 2017;376:1311–20. CAS Article Google Scholar Palumbo A, Chanan-Khan A, Weisel K,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43f1d396323e359453dbfdfee2d99497
https://hdl.handle.net/20.500.14017/4caed97a-4e5f-44c8-9940-e891ed37fe26
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8
UVR8-mediated inhibition of shade avoidance involves HFR1 stabilization in Arabidopsis
Autor: Tavridou, Eleni, Schmid-Siegert, Emanuel, Fankhauser, Christian, Ulm, Roman
Publikováno v: PLoS Genetics, Vol 16, Iss 5, p e1008797 (2020)
PLoS genetics, vol. 16, no. 5, pp. e1008797
PLoS Genetics
PLOS Genetics, Vol. 16, No 5 (2020) P. e1008797
Sun-loving plants perceive the proximity of potential light-competing neighboring plants as a reduction in the red:far-red ratio (R:FR), which elicits a suite of responses called the “shade avoidance syndrome” (SAS). Changes in R:FR are primarily
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0545b92567db39a9ed60551075590f7f
https://doaj.org/article/0e9d7e2ea96b4a92a1377c80f65a3f8f
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9
Advanced Cataloging of Lysine-63 Polyubiquitin Networks by Genomic, Interactome, and Sensor-Based Proteomic Analyses
Autor: Aloysius Wong, Grégory Vert, Dario Monachello, Alexander W. Johnson, Natali Romero-Barrios, Ulla Dolde, Anne Cayrel, Claire Lurin, Hélène San Clemente
Publikováno v: The Plant cell
The Plant cell, American Society of Plant Biologists (ASPB), 2020, 32 (1), pp.123-138. ⟨10.1105/tpc.19.00568⟩
The Plant cell, 2020, ⟨10.1105/tpc.19.00568⟩
The Plant cell, American Society of Plant Biologists (ASPB), 2020, ⟨10.1105/tpc.19.00568⟩
The lack of resolution when studying the many different ubiquitin chain types found in eukaryotic cells has been a major hurdle to our understanding of their specific roles. We currently have very little insight into the cellular and physiological fu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ac75b82a257c4c1c72c75d675680bdb
https://hal.inrae.fr/hal-03347890
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10
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
Autor: Florian R. T., Kraft F., Leitao E., Kaya S., Klebe S., Magnin E., van Rootselaar A. -F., Buratti J., Kuhnel T., Schroder C., Giesselmann S., Tschernoster N., Altmueller J., Lamiral A., Keren B., Nava C., Bouteiller D., Forlani S., Jornea L., Kubica R., Ye T., Plassard D., Jost B., Meyer V., Deleuze J. -F., Delpu Y., Avarello M. D. M., Vijfhuizen L. S., Rudolf G., Hirsch E., Kroes T., Reif P. S., Rosenow F., Ganos C., Vidailhet M., Thivard L., Mathieu A., Bourgeron T., Kurth I., Rafehi H., Steenpass L., Horsthemke B., Berkovic S. F., Bisulli F., Brancati F., Canafoglia L., Casari G., Guerrini R., Ishiura H., Licchetta L., Mei D., Pippucci T., Sadleir L., Scheffer I. E., Striano P., Tinuper P., Tsuji S., Zara F., LeGuern E., Klein K. M., Labauge P., Bennett M. F., Bahlo M., Gecz J., Corbett M. A., Tijssen M. A. J., van den Maagdenberg A. M. J. M., Depienne C.
Publikováno v: Nature Communications
Nature Communications, 2019, 10 (1), pp.4919. ⟨10.1038/s41467-019-12763-9⟩
Nature Communications, Nature Publishing Group, 2019, 10 (1), pp.4919. ⟨10.1038/s41467-019-12763-9⟩
Nature Communications 10, 4919 (2019). doi:10.1038/s41467-019-12763-9
Familial Adult Myoclonic Epilepsy (FAME) is a genetically heterogeneous disorder characterized by cortical tremor and seizures. Intronic TTTTA/TTTCA repeat expansions in SAMD12 (FAME1) are the main cause of FAME in Asia. Using genome sequencing and r
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ec2c892a3045ae0244d68ba44823587a
http://edoc.mdc-berlin.de/20584/2/20584suppl.zip
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