Zobrazeno 1 - 10
of 80
pro vyhledávání: '"MESH : Ubiquitin-Protein Ligases"'
Autor:
Rjiba, Khouloud, Mougou-Zerelli, Soumaya, Hamida, Imen Hadj, Saad, Ghada, Khadija, Bochra, Jelloul, Afef, Slimani, Wafa, Hasni, Yosra, Dimassi, Sarra, Khelifa, Hela Ben, Sallem, Amira, Kammoun, Molka, Abdallah, Hamza Hadj, Gribaa, Moez, Bignon-Topalovic, Joelle, Chelly, Sami, Khairi, Hédi, Bibi, Mohamed, Kacem, Maha, Saad, Ali, Bashamboo, Anu, Mcelreavey, Kenneth
Publikováno v:
Reproductive Biology and Endocrinology
Reproductive Biology and Endocrinology, 2023, 21 (1), pp.2. ⟨10.1186/s12958-022-01045-7⟩
Reproductive Biology and Endocrinology, 2023, 21 (1), pp.2. ⟨10.1186/s12958-022-01045-7⟩
Abstract Background Forty-six ,XY Differences/Disorders of Sex Development (DSD) are characterized by a broad phenotypic spectrum ranging from typical female to male with undervirilized external genitalia, or more rarely testicular regression with a
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
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
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
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
http://edoc.mdc-berlin.de/20584/2/20584suppl.zip
Autor:
Cristina Beltrami, Owen J. L. Rackham, Costanza Emanueli, Nithya Devapragash, Wei-Ping Yu, Xi-Ming Sun, Stuart A. Cook, Norbert Hubner, Francesco Pesce, Ee Ling Heng, Elisabeth Tan, Aida Moreno-Moral, Enrique Lara-Pezzi, Gianni D Angelini, Enrico Petretto, Huimei Chen, Paul J.R. Barton, Nathan Harmston, Michal Pravenec, Sebastian Schafer, Maxime Rotival, Nicole Tee, Massimilano Mancini, Leanne E. Felkin, Leonardo Bottolo, Prashant K. Srivastava, Kirill Shkura
Publikováno v:
Nature Communications
Nature Communications, 2019, 10 (1), pp.3616. ⟨10.1038/s41467-019-11551-9⟩
Nature Communications, Vol 10, Iss 1, Pp 1-19 (2019)
Chen, H, Moreno-Moral, A, Pesce, F, Devapragash, N, Mancini, M, Heng, E L, Rotival, M, Srivastava, P K, Harmston, N, Shkura, K, Rackham, O J L, Yu, W P, Sun, X M, Tee, N G Z, Tan, E L S, Barton, P J R, Felkin, L E, Lara-Pezzi, E, Angelini, G, Beltrami, C, Pravenec, M, Schafer, S, Bottolo, L, Hubner, N, Emanueli, C, Cook, S A & Petretto, E 2019, ' WWP2 regulates pathological cardiac fibrosis by modulating SMAD2 signalling ', Nature Communications, vol. 10, 3616 . https://doi.org/10.1038/s41467-019-11551-9
Nature Communications, Nature Publishing Group, 2019, 10 (1), pp.3616. ⟨10.1038/s41467-019-11551-9⟩
Repisalud
Instituto de Salud Carlos III (ISCIII)
Nature Communications, 2019, 10 (1), pp.3616. ⟨10.1038/s41467-019-11551-9⟩
Nature Communications, Vol 10, Iss 1, Pp 1-19 (2019)
Chen, H, Moreno-Moral, A, Pesce, F, Devapragash, N, Mancini, M, Heng, E L, Rotival, M, Srivastava, P K, Harmston, N, Shkura, K, Rackham, O J L, Yu, W P, Sun, X M, Tee, N G Z, Tan, E L S, Barton, P J R, Felkin, L E, Lara-Pezzi, E, Angelini, G, Beltrami, C, Pravenec, M, Schafer, S, Bottolo, L, Hubner, N, Emanueli, C, Cook, S A & Petretto, E 2019, ' WWP2 regulates pathological cardiac fibrosis by modulating SMAD2 signalling ', Nature Communications, vol. 10, 3616 . https://doi.org/10.1038/s41467-019-11551-9
Nature Communications, Nature Publishing Group, 2019, 10 (1), pp.3616. ⟨10.1038/s41467-019-11551-9⟩
Repisalud
Instituto de Salud Carlos III (ISCIII)
Cardiac fibrosis is a final common pathology in inherited and acquired heart diseases that causes cardiac electrical and pump failure. Here, we use systems genetics to identify a pro-fibrotic gene network in the diseased heart and show that this netw
Autor:
Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cecilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stevanin, Charles Duyckaerts, Alexis Brice, Alexandra Durr, Frédéric Darios, Sylvie Forlani, Pitié-Salpêtrière Site, Guillaume Banneau, Cécile Cazeneuve, Bertrand Fontaine, Jean-Philippe Azulay, Odile Boesfplug-Tanguy, Didier Hannequin, Jamilé Hazan, Andrea Burgo, Christophe Verny, Michel Koenig, Pierre Labauge, Karine N’guyen, Diana Rodriguez, Soraya Belarbi, Abdelmadjid Hamri, Meriem Tazir, Sylvia Boesch, Massimo Pandolfo, Jardim Laura, Velina Guergueltcheva, Ivalo Tournev, Olga Lucia Pedraza Linarès, Jørgen E. Nielsen, Kirsten Svenstrup, Maha Zaki, Peter Bauer, Lüdger Schöls, Rebecca Schüle, Alexander Lossos, Maria-Teresa Bassi, Manuela Basso, Enrico Bertini, Alfredo Brusco, Carlo Casali, Giorgio Casari, Chiara Criscuolo, Alessandro Filla, Laura Orsi, Filippo M. Santorelli, Enza Maria Valente, Marinela Vavla, Giovanni Vazza, André Megarbane, Ali Benomar, Berry Kremer, Willeke Van Roon-Mom, Richard Roxburgh, Anne Kjersti Erichsen, Chantal Tallaksen, Isabel Alonso, Paula Coutinho, José Léal Loureiro, Jorge Sequeiros, Mustapha Salih, Vladimir S. Kostic, Idoia Rouco Axpe, Liena Elsayed, Martin Arce Paucar, Samir Roumani, Soong Bing-Wen, Evan Reid, Nethisinghe Suran, Thomas Warner, Nicholas Wood
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2020, 22 (11), pp.1851-1862. ⟨10.1038/s41436-020-0899-x⟩
Genetics in medicine
Genetics in Medicine, Nature Publishing Group, 2020, 22 (11), pp.1851-1862. ⟨10.1038/s41436-020-0899-x⟩
Genetics in medicine
International audience; Purpose: Pathogenic variants in STUB1 were initially described in autosomal recessive spinocerebellar ataxia type 16 and dominant cerebellar ataxia with cerebellar cognitive dysfunction (SCA48).Methods: We analyzed a large ser
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10c4642c4e5d177527da8016ea948e04
https://hal.umontpellier.fr/hal-03369330
https://hal.umontpellier.fr/hal-03369330
Publikováno v:
Journal of Cell Biology
Journal of Cell Biology, Rockefeller University Press, 2020, 219 (11), pp.e202005035. ⟨10.1083/jcb.202005035⟩
Journal of Cell Biology, 2020, 219 (11), pp.e202005035. ⟨10.1083/jcb.202005035⟩
Journal of Cell Biology, Rockefeller University Press, 2020, 219 (11), pp.e202005035. ⟨10.1083/jcb.202005035⟩
Journal of Cell Biology, 2020, 219 (11), pp.e202005035. ⟨10.1083/jcb.202005035⟩
International audience; Many tissues are produced by specialized progenitor cells emanating from epithelia via epithelial-to-mesenchymal transition (EMT). Most studies have so far focused on EMT involving single or isolated groups of cells. Here we d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f1856ba5edf70c8c89f111f035f2a86
https://hal-pasteur.archives-ouvertes.fr/pasteur-03258555
https://hal-pasteur.archives-ouvertes.fr/pasteur-03258555
Autor:
Bertrand H. Rihn, Zahra Doumandji, Jaafar Ghanbaja, Olivier Joubert, Reuben Mercier, Hilary Cassidy, Luc Ferrari, Mélanie M Leroux, David Matallanas, Sara Nahle
Publikováno v:
Journal of Nanobiotechnology
Journal of Nanobiotechnology, BioMed Central, 2020, 18 (1), pp.36. ⟨10.1186/s12951-020-0587-7⟩
Journal of Nanobiotechnology, Vol 18, Iss 1, Pp 1-18 (2020)
Journal of Nanobiotechnology, BioMed Central, 2020, 18 (1), pp.36. ⟨10.1186/s12951-020-0587-7⟩
Journal of Nanobiotechnology, Vol 18, Iss 1, Pp 1-18 (2020)
Functionalized multi-walled carbon nanotubes (MWCNT) have become the focus of increased research interest, particularly in their application as tools in different areas, such as the biomedical field. Despite the benefits associated with functionaliza
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 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
https://hal.inrae.fr/hal-03347890
Autor:
Emmanuel Lemichez, Brenda A. Schulman, Zhenyue Hao, Sachdev S. Sidhu, Nan Li, Ryan Murchie, Wei Zhang, Maria A. Sartori, Kuen-Phon Wu, Jason Moffat, John R. Walker, Avinash Persaud, Yi Sheng, Alban Ordureau, Jicheng Hu, Chong Jiang, Manjeet Mukherjee, Kevin R. Brown, Yufeng Tong, Yanjun Li, Junjie Chen, Anne Doye, Peter Y. Mercredi, Daniela Rotin, Hari B. Kamadurai, J. Wade Harper
Publikováno v:
Molecular Cell
Molecular Cell, Elsevier, 2016, 62 (1), pp.121-136. ⟨10.1016/j.molcel.2016.02.005⟩
Molecular Cell, Elsevier, 2016, 62 (1), pp.121-136. ⟨10.1016/j.molcel.2016.02.005⟩
Comment in : A Billion Ubiquitin Variants to Probe and Modulate the UPS. [Mol Cell. 2016]; International audience; HECT-family E3 ligases ubiquitinate protein substrates to control virtually every eukaryotic process and are misregulated in numerous d
Autor:
Quentin Defenouillère, Micheline Fromont-Racine, Abdelkader Namane, Alain Jacquier, John Mouaikel
Publikováno v:
Molecular Biology of the Cell
Molecular Biology of the Cell, American Society for Cell Biology, 2017, 28 (9), pp.1165-1176. ⟨10.1091/mbc.E16-10-0746⟩
Molecular Biology of the Cell, 2017, 28 (9), pp.1165-1176. ⟨10.1091/mbc.E16-10-0746⟩
Molecular Biology of the Cell, American Society for Cell Biology, 2017, 28 (9), pp.1165-1176. ⟨10.1091/mbc.E16-10-0746⟩
Molecular Biology of the Cell, 2017, 28 (9), pp.1165-1176. ⟨10.1091/mbc.E16-10-0746⟩
The RQC complex involved in protein quality control mechanisms also exists as a ribosome-unbound complex during the escort of aberrant peptides to the proteasome. The E3 ubiquitin ligase Tom1 is a newly identified partner of this light version of the