Zobrazeno 1 - 10
of 136
pro vyhledávání: '"Robert, Gruber"'
Autor:
Omar Mohammed Alakloby, Fatimah Almuqarrab, Johannes Zschocke, Mathias Schmuth, Adnan Abdulkareem, Kholood Alnutaifi, Francis Borgio, Robert Gruber, Hans Christian Hennies
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-7 (2023)
Abstract Ichthyoses are a heterogeneous group of cornification disorders. The most common form of ichthyoses is ichthyosis vulgaris (IV) ([OMIM] #146,700), which can be inherited as autosomal semi-dominant mutation in the filaggrin gene (FLG). We pre
Externí odkaz:
https://doaj.org/article/8ee327b7825c45fa8a9685c4fc44a79a
Publikováno v:
Acta Dermato-Venereologica, Vol 102 (2022)
Abstract is missing (Short communication)
Externí odkaz:
https://doaj.org/article/a3588e3d6be440b586fa8629d721fd09
Autor:
Petra Pavel, Géraldine Leman, Martin Hermann, Christian Ploner, Thomas O. Eichmann, Deborah Minzaghi, Franz P.W. Radner, Barbara Del Frari, Robert Gruber, Sandrine Dubrac
Publikováno v:
JID Innovations, Vol 1, Iss 3, Pp 100033- (2021)
Alterations of the lipid profile of the stratum corneum have an important role in the pathogenesis of atopic dermatitis (AD) because they contribute to epidermal barrier impairment. However, they have not previously been envisioned as a cellular resp
Externí odkaz:
https://doaj.org/article/7ba93a44cbaa4a32a7b2fccc96f9200e
Autor:
Katja M. Eckl, Robert Gruber, Louise Brennan, Andrew Marriott, Roswitha Plank, Verena Moosbrugger-Martinz, Stefan Blunder, Anna Schossig, Janine Altmüller, Holger Thiele, Peter Nürnberg, Johannes Zschocke, Hans Christian Hennies, Matthias Schmuth
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Keratosis follicularis spinulosa decalvans (KFSD) is a rare cornification disorder with an X-linked recessive inheritance in most cases. Pathogenic variants causing X-linked KFSD have been described in MBTPS2, the gene for a membrane-bound zinc metal
Externí odkaz:
https://doaj.org/article/115b6a3d158f4d4b9e780b5eee8094b7
Autor:
Verena Moosbrugger-Martinz, Corinne Leprince, Marie-Claire Méchin, Michel Simon, Stefan Blunder, Robert Gruber, Sandrine Dubrac
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 10, p 5318 (2022)
The discovery in 2006 that loss-of-function mutations in the filaggrin gene (FLG) cause ichthyosis vulgaris and can predispose to atopic dermatitis (AD) galvanized the dermatology research community and shed new light on a skin protein that was first
Externí odkaz:
https://doaj.org/article/7ea4e7c39a104150b0ef2aafbf228464
Autor:
Michaela Zorn-Kruppa, Sabine Vidal-y-Sy, Pia Houdek, Ewa Wladykowski, Stephan Grzybowski, Robert Gruber, Christian Gorzelanny, Jason Harcup, Stefan W. Schneider, Amitabha Majumdar, Johanna M. Brandner
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-16 (2018)
Abstract Barrier function of hair follicles (HFs) is of great interest because they might be an entry port for allergens/pathogens, but could on the other hand be used for drug delivery or vaccination. Therefore we investigated tight junction (TJ) ba
Externí odkaz:
https://doaj.org/article/bc5fbde3bcd7440382fb6bdc70936aba
Autor:
Liani Devito, Matthew Donne, Nikola Kolundzic, Preeti Khurana, Carl Hobbs, Gabriel Kaddour, Sandrine Dubrac, Robert Gruber, Matthias Schmuth, Thea Mauro, Dusko Ilic
Publikováno v:
Stem Cell Research, Vol 31, Iss , Pp 122-126 (2018)
We have generated an induced pluripotent stem cell (iPSC) line KCLi001-A (iOP118) from a female atopic dermatitis (AD) patient, heterozygous for the loss-of-function mutation c.2282del4 in the filaggrin gene (FLG). Epidermal keratinocytes were reprog
Externí odkaz:
https://doaj.org/article/47a7e29b47f64ad5b730fe9e7fec8218
Autor:
David Robert Gruber
Publikováno v:
The Journal of Speculative Philosophy. 36:323-339
The problem of quantum nonlocality references instantaneous entanglements happening between particles at great distances, putting under question physical assumptions about time and local effects. Despite a wide range of proposed solutions in physics,
Publikováno v:
Die Dermatologie.
Autor:
Monika, Ettinger, Teresa, Burner, Angelika, Lackner, Leonie C, Schoeftner, Julia, Holzgruber, Robert, Gruber, Emmanuella, Guenova, Martina, Schuetz-Bergmayr, Tobias, Fischer, Iris K, Gratz, Susanne, Kimeswenger, Wolfram, Hoetzenecker
Publikováno v:
JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 20:1651-1653