Zobrazeno 1 - 10
of 283
pro vyhledávání: '"Eva, Klopocki"'
Autor:
Asuman Koparir, Caroline Lekszas, Kemal Keseroglu, Thalia Rose, Lena Rappl, Aboulfazl Rad, Reza Maroofian, Nakul Narendran, Atefeh Hasanzadeh, Ehsan Ghayoor Karimiani, Felix Boschann, Uwe Kornak, Eva Klopocki, Ertuğrul M. Özbudak, Barbara Vona, Thomas Haaf, Daniel Liedtke
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-13 (2024)
Abstract Background/Objectives Rare genetic disorders causing specific congenital developmental abnormalities often manifest in single families. Investigation of disease-causing molecular features are most times lacking, although these investigations
Externí odkaz:
https://doaj.org/article/4ca8372a9ecd42798f65bafe5883ded4
Autor:
Anna Janz, Katharina Walz, Alexandra Cirnu, Jessica Surjanto, Daniela Urlaub, Miriam Leskien, Michael Kohlhaas, Alexander Nickel, Theresa Brand, Naoko Nose, Philipp Wörsdörfer, Nicole Wagner, Takahiro Higuchi, Christoph Maack, Jan Dudek, Kristina Lorenz, Eva Klopocki, Süleyman Ergün, Henry J. Duff, Brenda Gerull
Publikováno v:
Molecular Metabolism, Vol 79, Iss , Pp 101859- (2024)
Background: Dilated cardiomyopathy with ataxia (DCMA) is an autosomal recessive disorder arising from truncating mutations in DNAJC19, which encodes an inner mitochondrial membrane protein. Clinical features include an early onset, often life-threate
Externí odkaz:
https://doaj.org/article/6548eb7053f84f48be1c05ed1eeff5e5
Publikováno v:
Stem Cell Research, Vol 73, Iss , Pp 103240- (2023)
Arrhythmogenic cardiomyopathy (ACM) represents the cardiac phenotype of Naxos disease, an autosomal recessive disease with an additional cutaneous phenotype. ACM is mainly caused by mutated desmosomal proteins, which are part of cardiac adherens junc
Externí odkaz:
https://doaj.org/article/4c4d6ef66fe24631970a2c3e78e638d6
Publikováno v:
Stem Cell Research, Vol 69, Iss , Pp 103094- (2023)
Using human dermal fibroblasts (hdF) derived from a patient carrying a c.1678C>G variant located in the TRPA1 gene, induced pluripotent stem cells (iPSC) were generated. Cells were reprogrammed via non-modified (NM) RNA-based transfection resulting i
Externí odkaz:
https://doaj.org/article/c122ba786a584dc8a1a1045d92698e44
Autor:
David Diouf, Maria Rosaria Vitale, Johanna Eva Maria Zöller, Ana-Magdalena Pineau, Eva Klopocki, Catharina Hamann, Georg Christoph Ziegler, Tim Vanmierlo, Daniel Van den Hove, Klaus-Peter Lesch
Publikováno v:
Stem Cell Research, Vol 67, Iss , Pp 103038- (2023)
Fibroblasts isolated from a skin biopsy of a healthy individual were infected with Sendai virus containing the Yamanaka factors to produce transgene-free human induced pluripotent stem cells (iPSCs). CRISPR/Cas9 was used to generate an isogenic cell
Externí odkaz:
https://doaj.org/article/72c76187c1894cd5bb3fa03e6ef50593
Publikováno v:
Stem Cell Research, Vol 67, Iss , Pp 103025- (2023)
Externí odkaz:
https://doaj.org/article/1a3ba1433b024c7d9db698d5789d3e2d
Publikováno v:
Stem Cell Research, Vol 61, Iss , Pp 102747- (2022)
Human dermal fibroblasts (HDF) were obtained by skin punch biopsy from a 51-year old man with suspected Fabry disease (FD), carrying the hemizygous c.376A > G variant in the α-galactosidase A gene (GLA). Cultured HDF were reprogrammed to induced plu
Externí odkaz:
https://doaj.org/article/edb8e22ce716474b8c4b264ec1a676f6
Autor:
Georg C. Ziegler, Franziska Radtke, Maria Rosaria Vitale, André Preuße, Eva Klopocki, Stefan Herms, Klaus-Peter Lesch
Publikováno v:
Stem Cell Research, Vol 56, Iss , Pp 102526- (2021)
Copy number variants of SLC2A3, which encodes the glucose transporter GLUT3, are associated with several neuropsychiatric and cardiac diseases. Here, we report the successful reprogramming of peripheral blood mononuclear cells from two SLC2A3 duplica
Externí odkaz:
https://doaj.org/article/888d95b7c3b240aea3350c226e3d1221
Autor:
Anna Janz, Miriam Zink, Alexandra Cirnu, Annika Hartleb, Christina Albrecht, Simone Rost, Eva Klopocki, Katharina Günther, Frank Edenhofer, Süleyman Ergün, Brenda Gerull
Publikováno v:
Stem Cell Research, Vol 53, Iss , Pp 102256- (2021)
Arrhythmogenic cardiomyopathy (ACM) is characterized by fibro-fatty replacement of the myocardium, heart failure and life-threatening ventricular arrhythmias. Causal mutations were identified in genes encoding for proteins of the desmosomes, predomin
Externí odkaz:
https://doaj.org/article/c9b7e61b9d5a46ac936d46bd71c5186a
Autor:
Stephanie Graser, Sofia Paulus, Elisa Riekert, Franz Jakob, Eva Klopocki, Denitsa Docheva, Theresa Kreuzahler, Maximilian Rudert, Marietta Herrmann, Daniel Liedtke
Publikováno v:
Bone Reports, Vol 14, Iss , Pp 101006- (2021)
Externí odkaz:
https://doaj.org/article/a20e737e612142a7a6c105cd518553c7