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Akademický článek

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Autor: Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E. L. M. Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M. Butler, Michael J. Lyons, Claudia M. B. Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane McCormick, Mary Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Operto, Federico Zara, Karin Writzl, Aleš Maver, Maria K. Haanpää, Pia Pohjola, Harri Arikka, Anneke J. A. Kievit, Camilla Calandrini, Christian Iseli, Nicolas Guex, Alexandre Reymond

Publikováno v: Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)

Abstract Background We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of AFF3. Mouse knock-in

Externí odkaz: https://doaj.org/article/0358fc56f6054b188a138c71c996e968

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Akademický článek

Biochemical characterization of a SusD-like protein involved in β-1,3-glucan utilization by an uncultured cow rumen Bacteroides

Autor: Xiaoqian Li, Guy Lippens, Jean-Luc Parrou, Gianluca Cioci, Jérémy Esque, Zhi Wang, Elisabeth Laville, Gabrielle Potocki-Veronese, Aurore Labourel

Publikováno v: mSphere, Vol 9, Iss 8 (2024)

ABSTRACT In ruminants, the rumen is a specialized stomach that is adapted to the breakdown of plant-derived complex polysaccharides through the coordinated activities of a diverse microbial community. Bacteroidota is a major phylum in this bovine rum

Externí odkaz: https://doaj.org/article/7bacb263be0349b686dd0b967040f6ff

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Akademický článek

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

Autor: Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R. Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Huijie Zhao, Chiara Fiorillo, Marina Pedemonte, Maria C. Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill A. Rosenfeld, Seema R. Lalani, Tiana M. Scott, Daryl Scott, Mahshid S. Azamian, Raymond Louie, Hannah W. Moore, Neena L. Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin J. Larsen, Suzanne Specht, Kylie J. Walters, Hee-Jung Choi, Murim Choi, Marco Tartaglia, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J. Westlake

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)

Abstract WDR44 prevents ciliogenesis initiation by regulating RAB11-dependent vesicle trafficking. Here, we describe male patients with missense and nonsense variants within the WD40 repeats (WDR) of WDR44, an X-linked gene product, who display cilio

Externí odkaz: https://doaj.org/article/af57c8de8d9140e89c63f41fb89329f6

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Akademický článek

Prefacing unexplored archives from Central Andean surface-to-bedrock ice cores through a multifaceted investigation of regional firn and ice core glaciochemistry

Publikováno v: Journal of Glaciology, Vol 69, Pp 693-707 (2023)

Shallow firn cores, in addition to a near-basal ice core, were recovered in 2018 from the Quelccaya ice cap (5470 m a.s.l) in the Cordillera Vilcanota, Peru, and in 2017 from the Nevado Illimani glacier (6350 m a.s.l) in the Cordillera Real, Bolivia.

Externí odkaz: https://doaj.org/article/13a615f4cac4472aa5496c671e105092

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Emergent risks in the Mt. Everest region in the time of anthropogenic climate change

Autor: Miner, Kimberley R., Mayewski, Paul A., Baidya, Saraju K., Broad, Kenneth, Clifford, Heather, Gajurel, Ananta P., Giri, Bibek, Hubbard, Mary, Jaskolski, Corey, Koldewey, Heather, Li, Wei, Matthews, Tom, Napper, Imogen, Perry, Baker, Potocki, Mariusz, Priscu, John C., Tait, Alex, Thompson, Richard, Tuladhar, Subash

In April and May 2019, as a part of the National Geographic and Roxel Perpetual Planet Everest Expedition, the most interdisciplinary scientific ever was launched. This research identified changing dynamics, including emergent risks resulting from na

Externí odkaz: http://arxiv.org/abs/2008.01010

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Akademický článek

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