2023 Seeling KS, Hehl L, Vell MS, Rendel MD, et al. Schneider CV , Comorbidities, biomarkers and cause specific mortality in patients with irritable bowel syndrome: a phenome ‐ wide association study.
Kilic K, Tolba R, Jockenhoevel S, Hermanns-Sachweh B, Hölzle F, Modabber A Measurement challenges and causes of incomplete results reporting of biomedical animal studies: Results from an interview study. PLoS
We are proud to announce that Sebastian Kant defended his PhD thesis on "Cardiomyopathy caused by desmoglein 2 mutation: Elucidation of pathomechanisms " on April 16th with distinction.
suffer from severe acute or chronic pain. Unfortunately, opioids can cause addiction and they have recently become notorious for causing what is now being called the opioid epidemic in the US: In 2016 alone [...] commonly used opioids is oxycodone, a semi-synthetic compound that is more effective than morphine and causes fewer side effects. However, oxycodone has been implicated in cardiac arrhythmias and could potentially
an overexcited state, resulting in so-called epileptic seizures, which cause disruption of the affected brain regions. The cause of epileptic brain activity can vary widely and the mechanisms involved
The Heart-Kidney Axis Cardiovascular disease (CVD) is the leading cause of death worldwide. In Europe, CVD accounts for 43% of deaths, which exceeds the global average by 11%. Also, the prevalence of chronic [...] CKD worldwide. However, almost 45% of CKD patients also suffer from CVD, with CVD being the leading cause of death in CKD. Globally, 1.4M annual CVD-related deaths are attributable to impaired kidney function
Erythromelalgia is, like PEPD (paroxysmal extreme pain disorder), a rare inherited severe pain syndrome caused by mutations in the voltage-gated sodium channel Nav1.7. Clinically both diseases are distinct, and [...] Gibson J, Nau C, Winterpacht A, Lampert A. Inherited Pain: Sodium Channel Nav1.7 A1632T Mutation Causes Erythromelalgia Due to a Shift of Fast Inactivation. J Biol Chem. 2014 Jan 24, 289(4):1971-80
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the respiratory control of breathing – Implication for SUDEP SUDEP is the leading epilepsy-related cause of death, affecting all ages and epilepsy severities. While ASMs control seizures for many patients [...] post-seizures may be SUDEP's common mechanism. Brainstem involvement due to epilepsy activity can cause SUDEP. Mouse models and advanced tech allow precise brain network investigations. A critical need [...] gene therapy in human brain tissue, apply viral vector-mediated CRISPR techniques to model epilepsy causes in human samples, and use these insights to enhance promoter-driven gene therapy approaches for epilepsy
A de novo gain-of-function mutation in SCN11A causes loss of pain perception. Nat Genet 45: 1399-1404. 7. Koehler K et al. 2013 Mutations in GMPPA cause a glycosylation disorder characterized by intellectual [...] Veröffentlichungen der Arbeitsgruppe (Auswahl): 1. Leipold E, et al. 2015. Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant. Nat Commun . 2015; 6:10049. 2. Chen YC, et al. 2015. Tra [...] 93(4):727-34 8. Kurth I, et al. 2009. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Nat Genet ; 41(11):1179-81. Ansprechpartner: Univ.-Prof.