Zobrazeno 1 - 10
of 117
pro vyhledávání: '"Frank Edenhofer"'
Autor:
Sabrina Höpperger, Angeliki Spathopoulou, Lukas Mayer-Suess, Marta Suarez-Cubero, Katharina Sillaber, Ana Spreiz, Stefan Kiechl, Frank Edenhofer, Lisa Fellner
Publikováno v:
Stem Cell Research, Vol 75, Iss , Pp 103321- (2024)
Ehlers-Danlos syndrome (EDS) belongs to a spectrum of rare heritable connective tissue disorders and is characterised by hyperextensibility, joint hypermobility and tissue fragility. Peripheral blood mononuclear cells (PBMCs) from a vascular EDS (vED
Externí odkaz:
https://doaj.org/article/de5075d6fde6462a9c5f75e6c1ac0627
Autor:
Marcel Tisch, María Carmen De Mingo Alemany, Marta Suarez-Cubero, Christine Fauth, Michaela Defrancesco, Johannes Zschocke, Katharina Günther, Frank Edenhofer
Publikováno v:
Stem Cell Research, Vol 61, Iss , Pp 102784- (2022)
Congenital hyperinsulinemic hypoglycemia (HH) is the most frequent cause of persistent and recurrent hypoglycemia. Peripheral mononuclear blood cells (PBMCs) from a patient diagnosed with HH, alongside autism-spectrum-disorder (ASD), carrying a heter
Externí odkaz:
https://doaj.org/article/ca79e8b4a2c74e01b2a6ac4777598e3d
Autor:
Genevieve M. Sullivan, Andrew K. Knutsen, Luca Peruzzotti-Jametti, Alexandru Korotcov, Asamoah Bosomtwi, Bernard J. Dardzinski, Joshua D. Bernstock, Sandra Rizzi, Frank Edenhofer, Stefano Pluchino, Regina C. Armstrong
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-23 (2020)
Abstract Multiple Sclerosis (MS) causes neurologic disability due to inflammation, demyelination, and neurodegeneration. Immunosuppressive treatments can modify the disease course but do not effectively promote remyelination or prevent long term neur
Externí odkaz:
https://doaj.org/article/599cef53dc3a4e46b2b4e66edd145f9c
Autor:
Paul Adrian Ginno, Dimos Gaidatzis, Angelika Feldmann, Leslie Hoerner, Dilek Imanci, Lukas Burger, Frederic Zilbermann, Antoine H. F. M. Peters, Frank Edenhofer, Sébastien A. Smallwood, Arnaud R. Krebs, Dirk Schübeler
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Local activity of the DNA methylation machinery remains poorly understood. Here, the authors present a theoretical and experimental framework to infer methylation and demethylation rates at genome scale in mouse embryonic stem cells, finding that mai
Externí odkaz:
https://doaj.org/article/d71bbc029bb84f98b2659275c30cb32d
Publikováno v:
Frontiers in Neurology, Vol 12 (2022)
Parkinson's disease (PD) is a progressive, neurodegenerative disorder characterized by motor and non-motor symptoms. To date, no specific treatment to halt disease progression is available, only medication to alleviate symptoms can be prescribed. The
Externí odkaz:
https://doaj.org/article/acc49d97fa3f4f71bec03beee47ac6e9
Autor:
Onur Temocin, Dominik Regele, Marc Sathianathan, Christa Überbacher, Markus Hartl, Frank Edenhofer, Dirk Meyer
Publikováno v:
Stem Cell Research, Vol 56, Iss , Pp 102522- (2021)
MNX1 encodes a homeobox transcription factor with conserved embryonic requirements in spinal motor neuron formation and pancreatic beta-cell differentiation. Mutations in MNX1 are associated with dominantly inherited Currarino syndrome and neonatal d
Externí odkaz:
https://doaj.org/article/599a2231c02a4322ac03572321b83c70
Autor:
Gonçalo Garcia, Sara Pinto, Sofia Ferreira, Daniela Lopes, Maria João Serrador, Adelaide Fernandes, Ana Rita Vaz, Alexandre de Mendonça, Frank Edenhofer, Tarja Malm, Jari Koistinaho, Dora Brites
Publikováno v:
Cells, Vol 11, Iss 21, p 3377 (2022)
Alzheimer’s disease (AD) is a neurodegenerative disorder associated with neuron–glia dysfunction and dysregulated miRNAs. We previously reported upregulated miR-124/miR-21 in AD neurons and their exosomes. However, their glial distribution, pheno
Externí odkaz:
https://doaj.org/article/e2d0ede62a154d079ede9f2b502cc289
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:
Maria Rosaria Vitale, Johanna Eva Maria Zöller, Charline Jansch, Anna Janz, Frank Edenhofer, Eva Klopocki, Daniel van den Hove, Tim Vanmierlo, Olga Rivero, Nael Nadif Kasri, Georg Christoph Ziegler, Klaus-Peter Lesch
Publikováno v:
Stem Cell Research, Vol 51, Iss , Pp 102169- (2021)
Fibroblasts isolated from a skin biopsy of a healthy 46-year-old female 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 isogenic
Externí odkaz:
https://doaj.org/article/4d1632977f6c4282a254d1e088eb36e8
Autor:
Anna Janz, Ruping Chen, Martina Regensburger, Yuichiro Ueda, Simone Rost, Eva Klopocki, Katharina Günther, Frank Edenhofer, Henry J. Duff, Süleyman Ergün, Brenda Gerull
Publikováno v:
Stem Cell Research, Vol 46, Iss , Pp 101856- (2020)
Dilated cardiomyopathy with ataxia (DCMA) is an autosomal recessive disorder arising from mutations in DNAJC19. Two patient-derived dermal fibroblast cell lines of siblings with the same homozygous splice acceptor site mutation in DNAJC19 (NM_145261.
Externí odkaz:
https://doaj.org/article/c63e0dec29754f9790696a6e39d6f9e8