Browsing Molekulare Medizin by Advisor & Referee "Wollnik, Bernd Prof. Dr."
Now showing items 1-15 of 15
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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 ... -
Effects of acute and long-term tachypacing on atrial engineered human myocardium
(2023-04-27)Atrial fibrillation is the most common supraventricular arrhythmia and is associated with molecular remodelling that promotes the maintenance and worsening of the disease. Although extensive research has been performed to ... -
Interfering with critical steps of the viral replication cycle to diminish SARS-CoV-2 propagation
(2022-10-07)The ongoing COVID-19 pandemic, caused by the novel coronavirus SARS-CoV-2, has so far infected more than 0.5 billion people worldwide, with at least 6.3 million deaths, and constitutes one of the largest global health ... -
Gene-expression control in early and late-onset dementia
(2022-10-05)Mutations in genes that control epigenetic gene expression, especially the machinery that controls Histone 3 lysine 4 (H3K4me) methylation, are over-represented in intellectual disability disorders. It is mediated by both ... -
HID1 as a novel disease-causing gene in early onset neurological disorders: molecular, functional and phenotypic studies
(2022-09-07)Rare neurological diseases with genetic causes are gaining relevance for child morbidity and mortality due to improvements in health care, prevention and treatment of conventional life-limiting diseases in infants. Emerging ... -
The role of CRISPLD1 in the transition to heart failure
(2022-01-21)Heart failure is a leading cause of death worldwide. It is defined as a condition in which the heart is unable to pump a sufficient amount of blood through the body to satisfy its oxygen need and can be caused by various ... -
Endothelial plasticity in fibrosis and epigenetics as a therapeutic target
(2021-11-26)In this thesis, we aim to (1) uncover novel (epi)genetic regulatory mechanisms that affect endothelial plasticity as an underlying cause of organ fibrosis, and (2) to therapeutically target (epi)genetic regulatory ... -
GSK3β-mediated DNA damage repair in pancreatic cancer
(2021-11-24)In this study we aimed to determine a deeper mechanistic understanding of GSK3β and its influence on pancreatic cancer behavior. Specifically, we examined the effect of GSK3β on transcriptional regulation and function ... -
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 ... -
Interplay of ARID1A and EGFR signaling in controlling acinar cell reprogramming in the pancreas
(2021-03-18)Based on a high degree of cellular plasticity and triggered by external (e.g. inflammation) or internal (e.g. oncogenic pressure) signals, pancreatic acinar cells can undergo reprogramming processes resulting in acinar-to-ductal ... -
The role of NARF and other novel progeria-associated genes/proteins in ageing processes.
(2021-01-29)The world’s population is ageing rapidly. Currently, people at the age of 60 and over represent 12.3% of the global population. By 2050, this number will rise to almost 22%. Our knowledge of ageing underlying processes is ... -
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 ... -
Cancer drugs targeting DNA replication: Molecular strategies to enhance specificity and efficacy
(2020-07-10)The DNA molecule stands at the center of cancer origin and treatment. Cancer cells are addicted to DNA mutations and DNA replication, therapeutic non-responders are often based on the rate of mutations and ability to ... -
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 ... -
From Chromatin Readers to Heart Failure: BET Protein Family Members in Cardiac Remodeling
(2019-05-16)Heart failure (HF) is the pathologic inability of the heart to supply the body with sufficient amounts of oxygen-rich blood. This increasingly common, life-threatening condition occurs in the final stage of various cardiac ...