23 Result(s)
within
Biomedicine
Human Genetics
Internal Medicine
Ben Ep**er
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Article
Verhandlungen Ärztlicher Gesellschaften
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Bestimmung der Trypsin- und Chymotrypsinaktivität im Stuhl. Eine sensible, spezifische Methode zum Nachweis der exokrinen Pankreasinsuffizienz
Der diagnostische Wert der Chymotrypsin-und Trypsinbestimmung im Stuhl (nachHaverback et al.) als neue Methode zur Erfassung der exokrinen Pankreasinsuffizienz wurde überprüft. Zur Objektivierung der exokrinen Pa...
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Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson’s disease
Rare monogenic forms of Parkinson’s disease (PD) are promoting our understanding of the molecular pathways involved in the common, non-Mendelian forms of the disease. Here, we focus on PARK7, an autosomal rece...
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Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?
This study evaluated common clinical characteristics of patients with lamin A/C gene mutations that cause either isolated dilated cardiomyopathy or dilated cardiomyopathy in association with skeletal muscular ...
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T-cell-based vaccination for morphological and functional neuroprotection in a rat model of chronically elevated intraocular pressure
Acute or chronic glaucoma is often associated with an increase in intraocular pressure (IOP). In many patients, however, therapeutic pressure reduction does not halt disease progression. Neuroprotection has be...
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Gene expression profiling of human alveolar macrophages of phenotypically normal smokers and nonsmokers reveals a previously unrecognized subset of genes modulated by cigarette smoking
Cigarette smoking is the leading cause of the respiratory diseases collectively known as chronic obstructive pulmonary disease (COPD). While the pathogenesis of COPD is complex, there is abundant evidence that...
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Modification of gene expression of the small airway epithelium in response to cigarette smoking
The earliest morphologic evidence of changes in the airways associated with chronic cigarette smoking is in the small airways. To help understand how smoking modifies small airway structure and function, we de...
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Modification of gene expression of the small airway epithelium in response to cigarette smoking
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Open AccessReactive oxygen species and small-conductance calcium-dependent potassium channels are key mediators of inflammation-induced hypotension and shock
Septic shock is associated with life-threatening vasodilation and hypotension. To cause vasodilation, vascular endothelium may release nitric oxide (NO), prostacyclin (PGI2), and the elusive endothelium-derive...
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Interaction of green tea polyphenol epigallocatechin-3-gallate with sunitinib: potential risk of diminished sunitinib bioavailability
Sunitinib, a novel oral multi-targeted tyrosine kinase inhibitor for patients with metastatic renal cell carcinoma (mRCC) and advanced gastrointestinal stromal tumor, has a good prospect for clinical applicati...
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Erratum to: T-cell-based vaccination for morphological and functional neuroprotection in a rat model of chronically elevated intraocular pressure
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ERK controls epithelial cell death receptor signalling and cellular FLICE-like inhibitory protein (c-FLIP) in ulcerative colitis
Intestinal epithelial cell (IEC) death signalling through the Fas receptor is impaired in active ulcerative colitis (UC). This is possibly due to the activation of cytoprotective pathways resulting in limitati...
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DLEC1, a 3p tumor suppressor, represses NF-κB signaling and is methylated in prostate cancer
Deleted in lung and esophageal cancer 1 (DLEC1), located at 3p22-p21.3, is involved in the carcinogenesis of multiple cancers, but its role in prostate cancer (PrCa) remains unclear. Here, we studied the epigenet...
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Open AccessHeat shock transcription factor 1 protects against pressure overload-induced cardiac fibrosis via Smad3
Fibrotic cardiac muscle exhibits high stiffness and low compliance which are major risk factors of heart failure. Although heat shock transcription factor 1 (HSF1) was identified as an intrinsic cardioprotecti...
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Open AccessRecurrent loss of heterozygosity correlates with clinical outcome in pancreatic neuroendocrine cancer
Pancreatic neuroendocrine tumors (pNETs) are uncommon cancers arising from pancreatic islet cells. Here we report the analysis of gene mutation, copy number, and RNA expression of 57 sporadic well-differentiat...
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Systemic thrombin inhibition ameliorates seizures in a mouse model of pilocarpine-induced status epilepticus
Status epilepticus (SE) is a life-threatening condition characterized by ongoing seizure activity which can lead to severe brain damage and death if not treated properly. Recent work suggests that alterations ...
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Open AccessMultiomics characteristics of neurogenesis-related gene are dysregulated in tumor immune microenvironment
The success of immunotherapy was overshadowed by its low response rate, and the hot or cold tumor microenvironment was reported to be responsible for it. However, due to the lack of an appropriate method, it i...
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Open AccessBroadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
Pathogenic variants in INPP5E cause Joubert syndrome (JBTS), a ciliopathy with retinal involvement. However, despite sporadic cases in large cohort sequencing studies, a clear association with non-syndromic inher...
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Open AccessSelective blood-nerve barrier leakiness with claudin-1 and vessel-associated macrophage loss in diabetic polyneuropathy
Diabetic polyneuropathy (DPN) is the most common complication in diabetes and can be painful in up to 26% of all diabetic patients. Peripheral nerves are shielded by the blood-nerve barrier (BNB) consisting of...
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Open AccessHIF2α regulates the synthesis and release of epinephrine in the adrenal medulla
The adrenal gland and its hormones regulate numerous fundamental biological processes; however, the impact of hypoxia signaling on adrenal function remains poorly understood. Here, we reveal that deficiency of...
