Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Beatriz Aranda-Orgillés"'
Autor:
Beatriz Aranda-Orgillés, Johanna Aigner, Melanie Kunath, Rudi Lurz, Rainer Schneider, Susann Schweiger
Publikováno v:
PLoS ONE, Vol 3, Iss 10, p e3507 (2008)
Mutations in the MID1 protein have been found in patients with Opitz BBB/G syndrome (OS), which is characterised by multiple malformations of the ventral midline. MID1 is a microtubule-associated protein that stabilizes microtubules and, in associati
Externí odkaz:
https://doaj.org/article/ccf1c5820cfb480bb41c5c12f19fee86
Publikováno v:
Journal for ImmunoTherapy of Cancer, Vol 11, Iss Suppl 1 (2023)
Externí odkaz:
https://doaj.org/article/67ad5cad2d594e7c94f64c186859a107
Autor:
Andrea Köhler, Désirée Rutschow, Susann Schweiger, Stefan Roepcke, Antonios I. Karagiannidis, Raphael Zeller, David M.J. Lilley, Sven Krause, Timothy J. Wilson, Rainer Schneider, Changwei Chen, Beatriz Aranda-Orgillés
Publikováno v:
Journal of Biological Chemistry. 286:39945-39957
We have shown previously that the ubiquitin ligase MID1, mutations of which cause the midline malformation Opitz BBB/G syndrome (OS), serves as scaffold for a microtubule-associated protein complex that regulates protein phosphatase 2A (PP2A) activit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b10f7c7eb5e8e253ee8d46f124949793
https://doi.org/10.1074/jbc.m111.224451
https://doi.org/10.1074/jbc.m111.224451
Autor:
Rainer Schneider, Alexander Trockenbacher, Johanna Aigner, Jennifer Winter, Ewa Jastrzebska, Beatriz Aranda-Orgillés, Albrecht Otto, Eva-Christina Müller, Erich E. Wanker, Andrea Köhler, Susann Schweiger, Joachim Stahl
Publikováno v:
Human Genetics
Opitz BBB/G syndrome (OS) is a heterogenous malformation syndrome mainly characterised by hypertelorism and hypospadias. In addition, patients may present with several other defects of the ventral midline such as cleft lip and palate and congenital h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2198603edccb041864131d9fc61b3335
https://doi.org/10.1007/s00439-007-0456-6
https://doi.org/10.1007/s00439-007-0456-6
Autor:
Beatriz, Aranda-Orgillés, Johanna, Aigner, Melanie, Kunath, Rudi, Lurz, Rainer, Schneider, Susann, Schweiger
Publikováno v:
PLoS One
PLoS ONE, Vol 3, Iss 10, p e3507 (2008)
PLoS ONE
PLoS ONE, Vol 3, Iss 10, p e3507 (2008)
PLoS ONE
Mutations in the MID1 protein have been found in patients with Opitz BBB/G syndrome (OS), which is characterised by multiple malformations of the ventral midline. MID1 is a microtubule-associated protein that stabilizes microtubules and, in associati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::55e4988fee6b7ea6dd71bfd5ebdd9aa5
https://hdl.handle.net/11858/00-001M-0000-0010-7ECA-711858/00-001M-0000-0010-7ECB-5
https://hdl.handle.net/11858/00-001M-0000-0010-7ECA-711858/00-001M-0000-0010-7ECB-5
