Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Denise Schmied"'
Autor:
Andrea Milenkovic, Denise Schmied, Naoyuki Tanimoto, Mathias W. Seeliger, Janet R. Sparrow, Bernhard H. F. Weber
Publikováno v:
Biology Open, Vol 8, Iss 7 (2019)
Human bestrophin-1 (BEST1) is an integral membrane protein known to function as a Ca2+-activated and volume-regulated chloride channel. The majority of disease-associated mutations in BEST1 constitute missense mutations and were shown in vitro to lea
Externí odkaz:
https://doaj.org/article/10dc0580fb44444c8b801bb4b032369a
Autor:
Tina Stumpp, Stefan Somlo, Magdalena M. Mair, Ralph Witzgall, Denise Schmied, Michael Schober, Christoph Korbmacher, Marion Kubitza, Uwe de Vries, Melanie Grosch, Markus Moser, Alexandr V. Ilyaskin, Kerstin N. Schmidt, Thaissa Dantas Pessoa, M. Gregor Madej, Karl Kunzelmann, Tobias Staudner, Helga Othmen, Katrin Brunner, Silke Haerteis, Larissa Osten, Christine Ziegler
Publikováno v:
Journal of Cell Science
article-version (VoR) Version of Record
article-version (VoR) Version of Record
Mutations in the PKD2 gene cause autosomal-dominant polycystic kidney disease but the physiological role of polycystin-2, the protein product of PKD2, remains elusive. Polycystin-2 belongs to the transient receptor potential (TRP) family of non-selec
Autor:
Felix, Grassmann, Stuart, Cantsilieris, Anja-Sabrina, Schulz-Kuhnt, Stefan J, White, Andrea J, Richardson, Alex W, Hewitt, Brendan J, Vote, Denise, Schmied, Robyn H, Guymer, Bernhard H F, Weber, Paul N, Baird
Publikováno v:
Journal of Neuroinflammation
Background Age-related macular degeneration (AMD) is the leading cause of vision loss in Western societies with a strong genetic component. Candidate gene studies as well as genome-wide association studies strongly implicated genetic variations in co