Zobrazeno 1 - 10
of 104
pro vyhledávání: '"Brenda Gerull"'
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
Autor:
Laura M. Schreiber, David Lohr, Steffen Baltes, Ulrich Vogel, Ibrahim A. Elabyad, Maya Bille, Theresa Reiter, Aleksander Kosmala, Tobias Gassenmaier, Maria R. Stefanescu, Alena Kollmann, Julia Aures, Florian Schnitter, Mihaela Pali, Yuichiro Ueda, Tatiana Williams, Martin Christa, Ulrich Hofmann, Wolfgang Bauer, Brenda Gerull, Alma Zernecke, Süleyman Ergün, Maxim Terekhov
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 10 (2023)
A key step in translational cardiovascular research is the use of large animal models to better understand normal and abnormal physiology, to test drugs or interventions, or to perform studies which would be considered unethical in human subjects. Ul
Externí odkaz:
https://doaj.org/article/9193eef9bf9242b49f87492d8e2116d8
Autor:
Maria Shoykhet, Orsela Dervishi, Philipp Menauer, Matthias Hiermaier, Sina Moztarzadeh, Colin Osterloh, Ralf J. Ludwig, Tatjana Williams, Brenda Gerull, Stefan Kääb, Sebastian Clauss, Dominik Schüttler, Jens Waschke, Sunil Yeruva
Publikováno v:
JCI Insight, Vol 8, Iss 6 (2023)
Arrhythmogenic cardiomyopathy (AC) is a familial heart disease partly caused by impaired desmosome turnover. Thus, stabilization of desmosome integrity may provide new treatment options. Desmosomes, apart from cellular cohesion, provide the structura
Externí odkaz:
https://doaj.org/article/2beededbb67b40438a622d5e5d48e306
Autor:
Miriam Zink, Anne Seewald, Mareike Rohrbach, Andreas Brodehl, Daniel Liedtke, Tatjana Williams, Sarah J. Childs, Brenda Gerull
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 17, p 9530 (2022)
Arrhythmogenic cardiomyopathy (ACM) is an inherited heart muscle disease caused by heterozygous missense mutations within the gene encoding for the nuclear envelope protein transmembrane protein 43 (TMEM43). The disease is characterized by myocyte lo
Externí odkaz:
https://doaj.org/article/35d6def1145d4b15abc89c047ae62d2e
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:
Andreas Brodehl, Brenda Gerull
Publikováno v:
Journal of Clinical Medicine, Vol 11, Iss 8, p 2094 (2022)
Restrictive cardiomyopathy is a rare cardiac disease causing severe diastolic dysfunction, ventricular stiffness and dilated atria. In consequence, it induces heart failure often with preserved ejection fraction and is associated with a high mortalit
Externí odkaz:
https://doaj.org/article/1cb0a3890b4f477d8cd0924bcff1de16
Autor:
Maria Shoykhet, Sebastian Trenz, Ellen Kempf, Tatjana Williams, Brenda Gerull, Camilla Schinner, Sunil Yeruva, Jens Waschke
Publikováno v:
JCI Insight, Vol 5, Iss 18 (2020)
Arrhythmogenic cardiomyopathy (AC) is a heart disease often caused by mutations in genes coding for desmosomal proteins, including desmoglein-2 (DSG2), plakoglobin (PG), and desmoplakin (DP). Therapy is based on symptoms and limiting arrhythmia, beca
Externí odkaz:
https://doaj.org/article/046bc78228534ea894a7626e9670aea9
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
Autor:
Brenda Gerull, Andreas Brodehl
Publikováno v:
Frontiers in Physiology, Vol 11 (2020)
Arrhythmogenic cardiomyopathy has been clinically defined since the 1980s and causes right or biventricular cardiomyopathy associated with ventricular arrhythmia. Although it is a rare cardiac disease, it is responsible for a significant proportion o
Externí odkaz:
https://doaj.org/article/19e4b70cb31f469fa8b5f1f3c5464eb2