Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Claire Schlack"'
Autor:
Raluca Groza, Kita Valerie Schmidt, Paul Markus Müller, Paolo Ronchi, Claire Schlack-Leigers, Ursula Neu, Dmytro Puchkov, Rumiana Dimova, Claudia Matthaeus, Justin Taraska, Thomas R. Weikl, Helge Ewers
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract Several bacterial toxins and viruses can deform membranes through multivalent binding to lipids for clathrin-independent endocytosis. However, it remains unclear, how membrane deformation and endocytic internalization are mechanistically lin
Externí odkaz:
https://doaj.org/article/232cba3680a14426a2a571dded62d071
Autor:
Claus-Eric Ott, Eva Morava, Björn Fischer, Bert Callewaert, Stefan Mundlos, Wolfgang Homann, Claire Schlack, Anna Ficcadenti, Manrico Morroni, Uwe Kornak, Paul Coucke, Phillipe Schröter
Publikováno v:
Molecular Genetics and Metabolism, 112, 310-6
Molecular Genetics and Metabolism, 112, 4, pp. 310-6
Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, 112, 4, pp. 310-6
Molecular Genetics and Metabolism
Contains fulltext : 136809.pdf (Publisher’s version ) (Closed access) Autosomal recessive cutis laxa (ARCL) type 2 constitutes a heterogeneous group of diseases mainly characterized by lax and wrinkled skin, skeletal anomalies, and a variable degre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f239abd1bb4a8c40113f5dddb1ba2833
https://doi.org/10.1016/j.ymgme.2014.05.003
https://doi.org/10.1016/j.ymgme.2014.05.003
Autor:
Neerja Gupta, Phillipe Schröter, Bernd Wollnik, Madhulika Kabra, Lionel Van Maldergem, Eva Morava, Yun Li, Jaime Moritz Brum, Katherine Lachlan, Diana Johnson, Shubha R. Phadke, David Chitayat, Thatjana Gardeitchik, Zeina Mahayri, Leo G.J. Nijtmans, Marco Castori, Stefan Mundlos, Elaine Fletcher, Ingeborg Barišić, Aikaterini Dimopoulou, Katta M. Girisha, Martina Simandlova, Albert David, Christiane Spaich, Hülya Kayserili, Meenakshi Bhat, Francesco Brancati, Beyhan Tüysüz, Björn Fischer, Claire Schlack, Uwe Kornak
Publikováno v:
Molecular Genetics and Metabolism, 110, 352-61
Molecular Genetics and Metabolism, 110, 3, pp. 352-61
Molecular Genetics and Metabolism, 110, 3, pp. 352-61
Item does not contain fulltext Autosomal recessive cutis laxa type 2B (ARCL2B; OMIM # 612940) is a segmental progeroid disorder caused by mutations in PYCR1 encoding pyrroline-5-carboxylate reductase 1, which is part of the conserved proline de novo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f4a9290161bb3a43a749084a8fa979e
https://doi.org/10.1016/j.ymgme.2013.08.009
https://doi.org/10.1016/j.ymgme.2013.08.009
Autor:
Paul J. Orchard, Canan Albayrak, Luigi D. Notarangelo, Uwe Kornak, Alessandra Pangrazio, Davut Albayrak, Ashok Vellodi, Elena Caldana, Claire Schlack, Lucia Susani, Gabriele Strauss, Ansgar Schulz, Andrea Sbardellati, Paolo Vezzoni, Nadia Lo Iacono, Jörn Sven Kühl, Olivier Vanakker, Cristina Sobacchi, Jamal Raza, Kimberly A. Kasow, Barbara De Moerloose, Anna Villa, Anders Fasth
Publikováno v:
Journal of Bone and Mineral Research. 28:1041-1049
Notarangelo, Luigi D/0000-0002-8335-0262; De Moerloose, Barbara/0000-0002-2449-539X; Villa, Anna/0000-0003-4428-9013; Susani, Lucia/0000-0003-3368-2135; Fasth, Anders/0000-0002-0033-740X WOS: 000318024300010 PubMed: 23280965 Human Autosomal Recessive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01496615b9da5a9c6b8cd7f22ef29df0
https://doi.org/10.1002/jbmr.1849
https://doi.org/10.1002/jbmr.1849
Autor:
Denise Emmerich, Jochen Hecht, Peter Krawitz, Sabine Uhrig, Claire Schlack, Gernot Grangl, Stefan Mundlos, Denise Horn, Karolina Kobus, Katrin Marschner, Barbara Plecko, Peter N. Robinson, Marta Miaczynska, Anna Hupalowska, Uwe Kornak, Mateusz Kolanczyk
Publikováno v:
European journal of human genetics
Ritscher-Schinzel syndrome (RSS)/3C (cranio-cerebro-cardiac) syndrome (OMIM#220210) is a rare and clinically heterogeneous developmental disorder characterized by intellectual disability, cerebellar brain malformations, congenital heart defects, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b35c86da40822b374fbbe92a1408856b
https://hdl.handle.net/11858/00-001M-0000-0025-7892-711858/00-001M-0000-0025-7894-3
https://hdl.handle.net/11858/00-001M-0000-0025-7892-711858/00-001M-0000-0025-7894-3
