2,508 results match your criteria: "Center for Molecular Medicine Cologne[Affiliation]"

ANTXR1 is one of two cell surface receptors mediating the uptake of the anthrax toxin into cells. Despite substantial research on its role in anthrax poisoning and a proposed function as a collagen receptor, ANTXR1's physiological functions remain largely undefined. Pathogenic variants in ANTXR1 lead to the rare GAPO syndrome, named for its four primary features: Growth retardation, Alopecia, Pseudoanodontia, and Optic atrophy.

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Chemical cross-linking to study protein self-assembly in cellulo.

STAR Protoc

June 2024

Institute for Genetics, University of Cologne, 50674 Cologne, Germany; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital of Cologne, 50931 Cologne, Germany. Electronic address:

Many proteins self-assemble into dimers and higher-order oligomers. Therefore, the goal of this protocol is to characterize the conformational states of an endogenous protein of interest. Here, we present a protocol for assessing protein self-assembly in cell lysates using chemical cross-linking.

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Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia.

Genet Med

July 2024

Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany. Electronic address:

Article Synopsis
  • * Researchers found mutations in the ZFTRAF1 gene, which encodes an unknown protein, and confirmed its absence in the affected individuals’ cells, indicating a potential link to the disorder.
  • * The study highlights that the affected individuals exhibit disruptions in cellular processes, particularly those related to mRNA processing and autophagy, suggesting that ZFTRAF1 variants contribute to neurodevelopmental issues.
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In this study we develop novel type of antibacterial chitosan-propolis NPs to improve theantimicrobial activity against various pathogens. To this aim, we primarily extracted propolis with methylal and ethanol as green solvents and its encapsulation with chitosan NPs. The developed propolis loaded chitosan NPs indicated antimicrobial and anti-biofilm properties against various gram positive and negative.

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DNA repair deficiencies and neurodegeneration.

DNA Repair (Amst)

June 2024

Institute for Genome Stability in Aging and Disease, Medical Faculty, University and University Hospital of Cologne, Joseph-Stelzmann-Str. 26, Cologne 50931, Germany; Cologne Excellence Cluster for Cellular Stress Responses in Aging-Associated Diseases (CECAD), Center for Molecular Medicine Cologne (CMMC), University of Cologne, Joseph-Stelzmann-Str. 26, Cologne 50931, Germany. Electronic address:

Article Synopsis
  • * Less recognized are neurodegenerative diseases linked to DNA repair deficiencies, such as Cockayne and Werner Syndromes, which lead to premature aging and neurological decline.
  • * The review focuses on the similarities between neurodegeneration due to proteopathy and DNA repair defects, emphasizing the role of mitochondria and the utility of nematodes as a research model for studying these processes.
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A roadmap for therapeutic discovery in pulmonary hypertension associated with left heart failure. A scientific statement of the Heart Failure Association (HFA) of the ESC and the ESC Working Group on Pulmonary Circulation & Right Ventricular Function.

Eur J Heart Fail

April 2024

Department of Translational Medical Sciences, Interdepartmental Center for Clinical and Translational Research (CIRCET), and Interdepartmental Hypertension Research Center (CIRIAPA), Federico II University, Naples, Italy.

Article Synopsis
  • Pulmonary hypertension (PH) linked to left heart failure (PH-LHF) is a common condition that worsens symptoms, reduces physical ability, and harms right heart function, leading to a poor outlook for patients.
  • Despite various drugs being tested, there are currently no specific treatments for PH-LHF, highlighting significant gaps in understanding its pathophysiology and clinical management.
  • The document calls for improved research on pulmonary venous changes, patient categorization for tailored therapies, and rigorous pre-clinical studies to enhance clinical trials and expand treatment options beyond current methods used for pulmonary arterial hypertension.
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Article Synopsis
  • DNA damage in macrophages with a specific DNA repair defect leads to neuroinflammation and neuron death in mouse models.
  • Accumulation of double-stranded DNAs in microglia triggers a viral-like immune response, causing further damage in the aged brain.
  • Delivering a targeted enzyme via extracellular vesicles effectively removes harmful DNAs, reduces inflammation, and slows down neurodegenerative symptoms in mice, suggesting a new treatment strategy.
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[Radiotherapy plus durvalumab for the treatment of locally advanced non-small cell lung cancer-The DOLPHIN trial].

Strahlenther Onkol

July 2024

Klinik und Poliklinik für Radioonkologie, Cyberknife- und Strahlentherapie, Center for Integrated Oncology Aachen Bonn Cologne Duesseldorf (CIO ABCD), Medizinische Fakultät und Universitätsklinikum Köln, Köln, Deutschland.

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Background: The decision to accept or discard the increasingly rare and marginal brain-dead donor kidneys in Eurotransplant (ET) countries has to be made without solid evidence. Thus, we developed and validated flexible clinicopathological scores called 2-Step Scores for the prognosis of delayed graft function (DGF) and 1-year death-censored transplant loss (1y-tl) reflecting the current practice of six ET countries including Croatia and Belgium.

Methods: The training set was n = 620 for DGF and n = 711 for 1y-tl, with validation sets n = 158 and n = 162, respectively.

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Background: The individual HLA-I genotype is associated with cancer, autoimmune diseases and infections. This study elucidates the role of germline homozygosity or allelic imbalance of HLA-I loci in esophago-gastric adenocarcinoma (EGA) and determines the resulting repertoires of potentially immunogenic peptides.

Methods: HLA genotypes and sequences of either (1) 10 relevant tumor-associated antigens (TAAs) or (2) patient-specific mutation-associated neoantigens (MANAs) were used to predict good-affinity binders using an in silico approach for MHC-binding (www.

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Sulfite intoxication is the hallmark of four ultrarare disorders that are caused by impaired sulfite oxidase activity due to genetic defects in the synthesis of the molybdenum cofactor or of the apoenzyme sulfite oxidase. Delays on the diagnosis of these disorders are common and have been caused by their unspecific presentation of acute neonatal encephalopathy with high early mortality, followed by the evolution of dystonic cerebral palsy and also by the lack of easily available and reliable diagnostic tests. There is significant variation in survival and in the quality of symptomatic management of affected children.

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Background: The Comprehensive Geriatric Assessment (CGA) records geriatric syndromes in a standardized manner, allowing individualized treatment tailored to the patient's needs and resources. Its use has shown a beneficial effect on the functional outcome and survival of geriatric patients. A recently published German S1 guideline for level 2 CGA provides recommendations for the use of a broad variety of different assessment instruments for each geriatric syndrome.

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Total neoadjuvant therapy (TNT) is an evolving treatment schedule for locally advanced rectal cancer (LARC), allowing for organ preservation in a relevant number of patients in the case of complete response. Patients who undergo this so-called "watch and wait" approach are likely to benefit regarding their quality of life (QoL), especially if definitive ostomy could be avoided. In this work, we performed the first cost-effectiveness analysis from the patient perspective to compare costs for TNT with radical resection after neoadjuvant chemoradiation (CRT) in the German health care system.

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Article Synopsis
  • The linear ubiquitin assembly complex (LUBAC), made up of HOIP, HOIL-1, and SHARPIN, is crucial for immune responses, with deficiencies leading to severe issues like immunodeficiency and autoinflammation.
  • Two individuals with SHARPIN deficiency exhibited autoinflammatory symptoms but did not have the expected skin problems seen in other cases, and their cells showed reduced immune responses.
  • Treatment with anti-TNF therapies successfully resolved the autoinflammatory symptoms in one case, highlighting LUBAC's important role in managing immune cell death and maintaining immune balance in humans.
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A call for accessible tools to unlock single-cell immunometabolism research.

Nat Metab

May 2024

Department of Molecular Cell Biology and Immunology, Amsterdam Cardiovascular Sciences, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Institute for Infection and Immunity, Cancer Centre Amsterdam, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.

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Background And Objectives: Test-to-stay concepts apply serial testing of children in daycare after exposure to SARS-CoV-2 without use of quarantine. This study aims to assess the safety of a test-to-stay screening in daycare facilities.

Methods: 714 daycare facilities and approximately 50 000 children ≤6 years in Cologne, Germany participated in a SARS-CoV-2 Pool-polymerase chain reaction (PCR) screening from March 2021 to April 2022.

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Olaparib Addition to Maintenance Bevacizumab Therapy in Ovarian Carcinoma With BRCA-Like Genomic Aberrations.

JAMA Netw Open

April 2024

Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology, Medical Faculty, University Hospital Cologne, Cologne, Germany.

Importance: Testing for homologous recombination deficiency is required for the optimal treatment of high-grade epithelial ovarian cancer. The search for accurate biomarkers is ongoing.

Objective: To investigate whether progression-free survival (PFS) and overall survival (OS) of patients with high-grade epithelial ovarian cancer treated with maintenance olaparib or placebo differed between patients with a tumor BRCA-like genomic profile and patients without a tumor BRCA-like profile.

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A guide to ferroptosis in cancer.

Mol Oncol

June 2024

Department of Translational Genomics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Germany.

Ferroptosis is a newly identified iron-dependent type of regulated cell death that can also be regarded as death caused by the specific collapse of the lipid antioxidant defence machinery. Ferroptosis has gained increasing attention as a potential therapeutic strategy for therapy-resistant cancer types. However, many ferroptosis-inducing small molecules do not reach the pharmacokinetic requirements for their effective clinical use yet.

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Purpose: The objective examination of the Post-COVID syndrome (PCS) remains difficult due to heterogeneous definitions and clinical phenotypes. The aim of the study was to verify the functionality and correlates of a recently developed PCS score.

Methods: The PCS score was applied to the prospective, multi-center cross-sectoral cohort (in- and outpatients with SARS-CoV-2 infection) of the "National Pandemic Cohort Network (NAPKON, Germany)".

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Purpose: The incidence of salivary duct carcinoma (SDC) seems to be underestimated due to inaccurate classification. Further, the frequency of SDC patients with targeted therapy options according to current guidelines is unclear. Therefore, this study aimed at (a) describing the proportion of SDC among salivary gland carcinoma (SGC) before and after reclassification of cases initially classified as adenocarcinoma, not otherwise specified (ANOS); and (b) quantifying the frequency of SDC patients with targeted therapy options.

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Impact of FAPI-46/dual-tracer PET/CT imaging on radiotherapeutic management in esophageal cancer.

Radiat Oncol

April 2024

Department of Nuclear Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.

Background: Fibroblast activation protein (FAP) is expressed in the tumor microenvironment (TME) of various cancers. In our analysis, we describe the impact of dual-tracer imaging with Gallium-68-radiolabeled inhibitors of FAP (FAPI-46-PET/CT) and fluorodeoxy-D-glucose (FDG-PET/CT) on the radiotherapeutic management of primary esophageal cancer (EC).

Methods: 32 patients with EC, who are scheduled for chemoradiation, received FDG and FAPI-46 PET/CT on the same day (dual-tracer protocol, 71%) or on two separate days (29%) We compared functional tumor volumes (FTVs), gross tumor volumes (GTVs) and tumor stages before and after PET-imaging.

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Article Synopsis
  • The VACCELERATE network is working to improve vaccine research in Europe by making sure everyone's voices are heard and included.
  • They wanted to see if people in patient advocacy groups were interested in joining a Volunteer Registry for vaccine studies and what they thought about being part of these trials.
  • A survey was sent out in 10 countries and got 520 responses, showing that people care about the risks, benefits, and information about the vaccine trials before they decide to participate.
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Fibronectin serves as a platform to guide and facilitate deposition of collagen and fibrillin microfibrils. During development of fibrotic diseases, altered fibronectin deposition in the extracellular matrix (ECM) is generally an early event. After this, dysregulated organization of fibrillins and fibrillar collagens occurs.

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The six brain-specific TAU isoforms and their role in Alzheimer's disease and related neurodegenerative dementia syndromes.

Alzheimers Dement

May 2024

Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.

Introduction: Alternative splicing of the human MAPT gene generates six brain-specific TAU isoforms. Imbalances in the TAU isoform ratio can lead to neurodegenerative diseases, underscoring the need for precise control over TAU isoform balance. Tauopathies, characterized by intracellular aggregates of hyperphosphorylated TAU, exhibit extensive neurodegeneration and can be classified by the TAU isoforms present in pathological accumulations.

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