Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Barbara A. Zieba"'
Autor:
Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel, Véronique Geoffroy, Elise Schaefer, Sophie Scheidecker, Séverine Bär, Masanari Takamiya, Koichi Kawakami, Barbara A Zieba, Fouzia Studer, Valerie Pelletier, Carine Eyermann, Claude Speeg‐Schatz, Vincent Laugel, Dan Lipsker, Florian Sandron, Steven McGinn, Anne Boland, Jean‐François Deleuze, Lauriane Kuhn, Johana Chicher, Philippe Hammann, Sylvie Friant, Christelle Etard, Elke Krüger, Jean Muller, Uwe Strähle, Hélène Dollfus
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 7, Pp n/a-n/a (2020)
Abstract The ubiquitin–proteasome system degrades ubiquitin‐modified proteins to maintain protein homeostasis and to control signalling. Whole‐genome sequencing of patients with severe deafness and early‐onset cataracts as part of a neurologi
Externí odkaz:
https://doaj.org/article/84cd90f8c2f147a682d5ff88f7111dd9
Autor:
Monika Berns, Angela M. Kaindl, Barbara A. Zieba, Tilmann Kallinich, Frédéric Ebstein, Manuela Theophil, Banu Orak, Axel Panzer, Elke Krüger, Gonza Ngoumou, Carl Christoph Goetzke, Christian Meisel, Nadine Unterwalder, Ellen Knierim
Publikováno v:
Pediatric Allergy and Immunology. 32:621-625
Aicardi Goutieres syndrome (AGS) is an autosomal recessive disorder characterized by severe pre- and postnatal occurring neurological symptoms, e.g. spasticity, dystonia and psychomotoric retardation, abnormalities in cerebrospinal fluid and specific
Autor:
Philippine Garret, Sana Mahmoudi, Blandine Dozières-Puyravel, Frédéric Ebstein, Geoffroy Delplancq, Karun K. Singh, Elke Krüger, Yannis Duffourd, Laurence Faivre, Jean-Marc Costa, Barbara A. Zieba, Antonio Vitobello, Detlef Trost, Aïcha Boughalem, Stéphane Auvin, Sandro Klafack, Christel Thauvin-Robinet, Alain Verloes, Laurence Duplomb
Publikováno v:
Clinical Genetics. 97:567-575
Heterozygous microdeletions of chromosome 15q13.3 (MIM: 612001) show incomplete penetrance and are associated with a highly variable phenotype that may include intellectual disability, epilepsy, facial dysmorphism and digit anomalies. Rare patients c
Autor:
Christian Meisel, Manuela Theophil, Gonza Ngoumou, Carl Christoph Goetzke, Monika Berns, Angela M. Kaindl, Elke Krüger, Banu Orak, Tilmann Kallinich, Barbara A. Zieba, Frédéric Ebstein, Nadine Unterwalder, Axel Panzer, Ellen Knierim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5a029e8c2586357dc68abae6340b9760
https://doi.org/10.1111/pai.13400/v2/response1
https://doi.org/10.1111/pai.13400/v2/response1
Publikováno v:
Advances in experimental medicine and biology. 1233
The proteasome is involved in the regulation of all cellular pathways and consequently plays a central role in the control of cellular homeostasis. Together with its regulators, it is at the frontline, both as an actor and as a target, in human healt
Publikováno v:
The Proteasome System in Health and Disease
The Proteasome System in Health and Disease, pp.55-100, 2020, ⟨10.1007/978-3-030-38266-7_3⟩
Proteostasis and Disease ISBN: 9783030382650
The Proteasome System in Health and Disease, pp.55-100, 2020, ⟨10.1007/978-3-030-38266-7_3⟩
Proteostasis and Disease ISBN: 9783030382650
The proteasome is involved in the regulation of all cellular pathways and consequently plays a central role in the control of cellular homeostasis. Together with its regulators, it is at the frontline, both as an actor and as a target, in human healt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21aa791d1c9cb3d8790f982ec5348e08
https://hal.umontpellier.fr/hal-03026273
https://hal.umontpellier.fr/hal-03026273
Autor:
Philippine Garret, Blandine Dozières-Puyravel, Alain Verloes, Elke Krüger, Yannis Duffourd, Barbara A. Zieba, Frédéric Ebstein, Christel Thauvin-Robinet, Sana Mahmoudi, Laurence Duplomb, Stéphane Auvin, Sandro Klafack, Geoffroy Delplancq, Antonio Vitobello, Detlef Trost, Jean-Marc Costa, Karun K. Singh, Aïcha Boughalem, Laurence Faivre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bf3b23bc77fd37e63b23840983284c3
https://doi.org/10.1111/cge.13709/v3/response1
https://doi.org/10.1111/cge.13709/v3/response1
Autor:
Sophie Scheidecker, Elke Krüger, Vincent Laugel, Masanari Takamiya, Jean Muller, Jean-François Deleuze, Steven McGinn, Dan Lipsker, Elise Schaefer, Fouzia Studer, Koichi Kawakami, Philippe Hammann, Valérie Pelletier, Barbara A. Zieba, Séverine Bär, Anne Boland, Christelle Etard, Frédéric Ebstein, Sylvie Friant, Corinne Stoetzel, Johana Chicher, Ariane Kröll-Hermi, Lauriane Kuhn, Florian Sandron, Uwe Strähle, Hélène Dollfus, Véronique Geoffroy, Claude Speeg-Schatz
Whole-genome sequencing was performed on patients with severe deafness and early-onset cataracts as part of a neurological, sensorial and cutaneous novel syndrome. A unique deep intronic homozygous variant in thePSMC3gene (c.1127+337A>G, p.Ser376Argf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1299d52081534a49d9d0525a41c729ce
Autor:
Ellen Knierim, Tilmann Kallinich, Frédéric Ebstein, Nadine Unterwalder, Angela M. Kaindl, Barbara A. Zieba, Elke Krüger, Christian Meisel, Manuela Theophil, Marc Nikolaus, Banu Orak, Axel Panzer
Publikováno v:
Abstracts Accepted for Publication.
Background Monogenic Interferonopathies are a rare group of inflammatory diseases that are difficult to diagnose in the onset phase given the lack of well-defined disease-markers.1A correlation with interferon-stimulated genes (ISG) has been reported
Autor:
Emily M. Mace, Bret L. Bostwick, Richard A. Lewis, Sébastien Küry, M. Cecilia Poli, Ivan K. Chinn, Alexandre F. Carisey, Marietta M. de Guzman, Elke Krüger, James R. Lupski, Jill A. Rosenfeld, Lisa Emrick, Claudia M.B. Carvalho, Lisa R. Forbes, Barbara A. Zieba, Richard A. Gibbs, Deborah Schady, Shalini N. Jhangiani, Frédéric Ebstein, Sarah K. Nicholas, Brendan Lee, Zeynep Coban-Akdemir, Donna M. Muzny, Tiphanie P. Vogel, Mahim Jain, Felipe Benavides, Jordan S. Orange
The proteasome processes proteins to facilitate immune recognition and host defense. When inherently defective, it can lead to aberrant immunity resulting in a dysregulated response that can cause autoimmunity and/or autoinflammation. Biallelic or di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04f14042091673d38e488f51b593398b
https://europepmc.org/articles/PMC5992134/
https://europepmc.org/articles/PMC5992134/