Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Susann Weissbach"'
Autor:
Peter Huppke, Susann Weissbach, Joseph A. Church, Rhonda Schnur, Martina Krusen, Steffi Dreha-Kulaczewski, W. Nikolaus Kühn-Velten, Annika Wolf, Brenda Huppke, Francisca Millan, Amber Begtrup, Fatima Almusafri, Holger Thiele, Janine Altmüller, Peter Nürnberg, Michael Müller, Jutta Gärtner
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-10 (2017)
The NRF2 transcription factor regulates the response to stress in mammalian cells. Here, the authors show that activating mutations in NRF2, commonly found in cancer cells, are found in four patients with a multisystem disorder characterized by immun
Externí odkaz:
https://doaj.org/article/afa5f18f07b548228b00ab048e187a66
Autor:
Susann Weißbach, Sofia Catalina Heredia-Guerrero, Stefanie Barnsteiner, Lukas Großhans, Jochen Bodem, Hanna Starz, Christian Langer, Silke Appenzeller, Stefan Knop, Torsten Steinbrunn, Simone Rost, Hermann Einsele, Ralf Christian Bargou, Andreas Rosenwald, Thorsten Stühmer, Ellen Leich
Publikováno v:
Cancers
Volume 12
Issue 2
Cancers, Vol 12, Iss 2, p 455 (2020)
Volume 12
Issue 2
Cancers, Vol 12, Iss 2, p 455 (2020)
Approximately 20% of multiple myeloma (MM) cases harbor a point mutation in KRAS. However, there is still no final consent on whether KRAS-mutations are associated with disease outcome. Specifically, no data exist on whether KRAS-mutations have an im
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf88561db74a4eb3419ade8afd8689b8
http://europepmc.org/articles/PMC7072554
http://europepmc.org/articles/PMC7072554
Autor:
Marie-Christine Reinert, Holger Thiele, Susann Weissbach, Peter Nürnberg, Thorsten Rosenbaum, Ralph Krätzner, Jutta Gärtner, Janine Altmüller
Publikováno v:
American Journal of Medical Genetics Part A. 173:2803-2807
Cabezas type of X-linked syndromic intellectual disability (MRXSC; MIM300354) is a rare X-linked recessive intellectual disability characterized primarily by intellectual disability, short stature, hypogonadism, and gait abnormalities. It is caused b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ea028f0133284d67ec2ce38db283cc7
https://doi.org/10.1002/ajmg.a.38390
https://doi.org/10.1002/ajmg.a.38390
FV 241. Mutations in NFE2L2 Lead to a Novel Treatable Neurological Disorder with Leukoencephalopathy
Autor:
Peter Huppke, Fatima Almusafri, Martina Krusen, Susann Weissbach, Amber Begtrup, Janine Altmüller, Holger Thiele, Joseph A. Church, Annika Wolf, Peter Nürnberg, Francisca Millan, Nikolaus Kühn-Velten, Steffi Dreha-Kulaczewski, Jutta Gärtner, Rhonda E. Schnur, Michael Müller, Brenda Huppke
Publikováno v:
Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d1c6d7f938114d08932d1de84e9dad31
https://doi.org/10.1055/s-0038-1675914
https://doi.org/10.1055/s-0038-1675914
Autor:
Peter Huppke, Susann Weissbach, Joseph A. Church, Rhonda Schnur, Martina Krusen, Steffi Dreha-Kulaczewski, W. Nikolaus Kühn-Velten, Annika Wolf, Brenda Huppke, Francisca Millan, Amber Begtrup, Fatima Almusafri, Holger Thiele, Janine Altmüller, Peter Nürnberg, Michael Müller, Jutta Gärtner
Publikováno v:
Nature Communications
Nature Communications, Vol 8, Iss 1, Pp 1-10 (2017)
Nature Communications, Vol 8, Iss 1, Pp 1-10 (2017)
Transcription factor NRF2, encoded by NFE2L2, is the master regulator of defense against stress in mammalian cells. Somatic mutations of NFE2L2 leading to NRF2 accumulation promote cell survival and drug resistance in cancer cells. Here we show that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::2b76513a6479b1e772c60f340e7c48b5
https://pubmed.ncbi.nlm.nih.gov/29018201
https://pubmed.ncbi.nlm.nih.gov/29018201
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
Multixenobiotic resistance (MXR) of aquatic invertebrates has so far been associated with cellular efflux activity mediated by P-glycoprotein (ABCB1) and MRP (multidrug resistance protein; ABCC) type ABC (ATP binding cassette) transporters. Expressio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4ab8557216492dce65880edd8e3e299
http://hdl.handle.net/10261/109751
http://hdl.handle.net/10261/109751
