Browsing Molekulare Medizin by Referee "Zimmermann, Wolfram-Hubertus Prof. Dr."
Now showing items 1-13 of 13
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Impaired chromosome integrity caused by mutations in members of the BTRR complex
(2023-10-17)Bloom syndrome (BS) is an autosomal recessive rare disorder clinically characterized by primary microcephaly, growth deficiency, short stature, photosensitivity, immunodeficiency, and cancer predisposition. BS is caused ... -
Cardiac microvascular dysfunction in diabetes mellitus: elucidation of molecular determinants and therapeutic targets
(2023-03-09)Microvascular dysfunction is a pathological hallmark of the diabetic myocardium, and is central to the etiology of diabetes-associated cardiac events. Herein, previous studies highlighted the role of the vasoactive micro-RNA ... -
Cellular response to compartmentalized redox alterations
(2022-08-24)Reactive oxygen species (ROS) were considered only as toxic and unavoidable by-products of aerobic cell life in the past. Nevertheless, their significance for cellular signalling is currently widely accepted and extensively ... -
Exploring the role of LZTR1 in an autosomal recessive form of Noonan Syndrome by genome-edited induced pluripotent stem cells
(2021-10-22)Noonan syndrome is a multisystemic developmental disorder and is characterized by variable symptoms such as facial dysmorphisms, short stature, webbing of the neck and mild intellectual disability. The most severe clinical ... -
Mechanisms underlying low flow-low gradient aortic stenosis
(2020-11-09)Aortic stenosis (AS) remains the most common valvular disease in the elderly with an increasing prevalence, owing to the predominance of degenerative etiologies; hence, represents a major public health burden. The majority ... -
RNA methylation in Cardiac Hypertrophy and Heart Failure
(2020-11-06)Cardiovascular diseases (CVDs) are the leading cause of hospital admission and mortality worldwide. Heart failure (HF) is one of the most common CVDs and is characterized by a reduced cardiac function and left ventricular ... -
Molecular pathogenesis underlying syndromic forms of primary microcephaly
(2020-01-08)Microcephaly describes a reduced brain size in patients that manifests in an evidently reduced head circumference compared to healthy individuals of same age, sex and ethnicity. Even though microcephaly is still considered ... -
A cell-type and compartment specific analysis of glutathione and hydrogen peroxide
(2019-07-04)Reactive oxygen species (ROS) have been recognized to play important roles as messenger molecules. They are involved in the etiology and progression of cardiovascular diseases such as myocardial infarction, cardiac hypertrophy ... -
Development of a genetically encoded model for the sensing of glutathione redox potential in human embryonic stem cell-derived cardiomyocytes and fibroblasts
(2017-05-29)Redox alterations due to increased ROS production in heart cells have been implicated in several cardiovascular diseases, such as ischemia, hypertrophy, and myocardial infarction, but may also play a crucial role for the ... -
Modulation of cardiac function by oxidized type I protein kinase A
(2017-03-31)L-type Ca2+ channels (LTCC) are known to be involved in the dysregulation of intracellular Ca2+ handling in heart failure (HF) contributing to contractile dysfunction and arrhythmias. Beside alteration in subcellular ... -
Characterization and Application of Bioengineered Heart Muscle as a New Tool to Study Human Heart Development and Disease
(2016-09-20)Proof-of-concept for the generation of a bioengineered heart muscle (BHM) directly from human pluripotent stem cells (hPSCs) as a model to simulate human heart muscle development was introduced recently by our lab. BHMs ... -
Endothelial Transformation Related Protein 53 Deletion Promotes Angiogenesis and Prevents Cardiac Fibrosis and Heart Failure Induced by Pressure Overload in Mice
(2015-01-21)Background− Accumulation of transformation related protein 53 (p53), apoptotic cell death and rarefication of myocardial angiogenesis may be involved in the development of cardiac dysfunction during chronic pressure ...