Hauke Busch
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View article: scRNA-seq reveals persistent aberrant differentiation of nasal epithelium driven by TNFα and TGFβ in post-COVID syndrome
scRNA-seq reveals persistent aberrant differentiation of nasal epithelium driven by TNFα and TGFβ in post-COVID syndrome Open
Post-COVID syndrome (PCS) affects approximately 3-17% of individuals following acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and poses a potential global health burden. While improved assessment strategies are emerging, m…
View article: Immune Training of the Interleukin 6 Gene in Airway Epithelial Cells is Central to Asthma Exacerbations
Immune Training of the Interleukin 6 Gene in Airway Epithelial Cells is Central to Asthma Exacerbations Open
Question Epidemiological studies suggest that respiratory viral infections are major triggers of asthma exacerbations, and clinical studies have suggested the involvement of an increased interleukin‐6 (IL‐6) release. What is the pathophysi…
View article: Cooperativity between endogenous glutamylcysteinylglycine-based oligopeptides and drugs determines the function of the multidrug transporter ABCC1
Cooperativity between endogenous glutamylcysteinylglycine-based oligopeptides and drugs determines the function of the multidrug transporter ABCC1 Open
The multidrug transporter ABCC1 confers resistance against many anticancer drugs, often together with endogenous glutamylcysteinylglycine. Neither highly potent inhibition of ABCC1-mediated drug transport, nor enhancement of ABCC1-mediated…
View article: Extension of the cBioPortal System to Include a Site-Centered Clinical Trial Search at the University Hospital Schleswig-Holstein
Extension of the cBioPortal System to Include a Site-Centered Clinical Trial Search at the University Hospital Schleswig-Holstein Open
Introduction: In this work, a site-centered trial search was implemented for the Molecular Tumor Board of the University Hospital Schleswig-Holstein (UKSH). Methods: The UKSH Study Registry was selected as the data source as it provides de…
View article: Complementarity of long-read sequencing and optical genome mapping in Parkinson’s disease
Complementarity of long-read sequencing and optical genome mapping in Parkinson’s disease Open
Background With third-generation long-read sequencing (LRS) platforms and optical genome mapping technologies (OGM), the ability to detect large and complex structural variants (SVs) is rapidly advancing. This has led to the discovery of n…
View article: 456P Mutational signature dynamics in gastric and esophageal cancers: A retrospective comprehensive genomic analysis
456P Mutational signature dynamics in gastric and esophageal cancers: A retrospective comprehensive genomic analysis Open
View article: Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing Open
Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, und…
View article: Polypharmacology translates between species and phylogenetic distance: A functional, bioinformatic, and structural study on organic anion transporting polypeptides
Polypharmacology translates between species and phylogenetic distance: A functional, bioinformatic, and structural study on organic anion transporting polypeptides Open
Recently, we postulated the existence of 'multitarget binding sites', reoccurring structural motifs that interconnect otherwise structurally, functionally, and/or phylogenetically distant proteins. In this study, we functionally assessed a…
View article: Uncovering the Understanding of the Concept of Patient Similarity in Cancer Research and Treatment: Scoping Review
Uncovering the Understanding of the Concept of Patient Similarity in Cancer Research and Treatment: Scoping Review Open
Background Patient similarity is a fundamental concept in precision oncology, offering a pathway to personalized medicine by identifying patterns and shared characteristics among patients. This concept enables stratification into clinicall…
View article: Molecular profiling of primary renal diffuse large B-cell lymphoma unravels a proclivity for immune-privileged tropism
Molecular profiling of primary renal diffuse large B-cell lymphoma unravels a proclivity for immune-privileged tropism Open
View article: Prototypical Visualization of Patient Similarities in cBioPortal to Enhance Decision-Making in Molecular Tumor Boards
Prototypical Visualization of Patient Similarities in cBioPortal to Enhance Decision-Making in Molecular Tumor Boards Open
Background: Patient similarity analysis is pivotal in cancer research and clinical oncology, aiding in identifying patterns among patients with similar clinical and molecular profiles to guide therapeutic decisions, particularly in Molecul…
View article: Molecular profiling of primary renal marginal zone lymphoma reveals overlapping features with extranodal marginal zone lymphoma
Molecular profiling of primary renal marginal zone lymphoma reveals overlapping features with extranodal marginal zone lymphoma Open
View article: Transcriptome-Wide Analysis and Experimental Validation from FFPE Tissue Identifies Stage-Specific Gene Expression Profiles Differentiating Adenoma, Carcinoma In-Situ and Adenocarcinoma in Colorectal Cancer Progression
Transcriptome-Wide Analysis and Experimental Validation from FFPE Tissue Identifies Stage-Specific Gene Expression Profiles Differentiating Adenoma, Carcinoma In-Situ and Adenocarcinoma in Colorectal Cancer Progression Open
Colorectal cancer (CRC) progression occurs through three stages: adenoma (pre-cancerous lesion), carcinoma in situ (CIS) and adenocarcinoma, with tumor stage playing a pivotal role in the prognosis and treatment outcomes. Despite therapeut…
View article: Diet modulates the therapeutic effects of dimethyl fumarate mediated by the immunometabolic neutrophil receptor HCAR2
Diet modulates the therapeutic effects of dimethyl fumarate mediated by the immunometabolic neutrophil receptor HCAR2 Open
Monomethyl fumarate (MMF) and its prodrug dimethyl fumarate (DMF) are currently the most widely used agents for the treatment of multiple sclerosis (MS). However, not all patients benefit from DMF. We hypothesized that the variable respons…
View article: Ruxolitinib mediated paradoxical JAK2 hyperphosphorylation is due to the protection of activation loop tyrosines from phosphatases
Ruxolitinib mediated paradoxical JAK2 hyperphosphorylation is due to the protection of activation loop tyrosines from phosphatases Open
Myelofibrosis (MF) in 50% of cases is driven by an activating JAK2 mutation, mostly V617F. Ruxolinitib is approved for the treatment of MF. Responses to ruxolitinib in MF are of limited duration. Unexpectedly, treatment of JAK2-V617F expre…
View article: Mucosal deficiency of mitochondria-driven humoral immunity is linked to Crohn’s Disease
Mucosal deficiency of mitochondria-driven humoral immunity is linked to Crohn’s Disease Open
Secretory IgA (SIgA) is critical for maintaining the intestinal barrier. A dysregulated B-cell compartment and altered Ig secretion have been well documented in Crohn’s disease (CD) patients, although their origin is unknown. To unravel th…
View article: Author response: Diet modulates the therapeutic effects of dimethyl fumarate mediated by the immunometabolic neutrophil receptor HCAR2
Author response: Diet modulates the therapeutic effects of dimethyl fumarate mediated by the immunometabolic neutrophil receptor HCAR2 Open
View article: The mutational landscape and its longitudinal dynamics in relapsed and refractory classic Hodgkin lymphoma
The mutational landscape and its longitudinal dynamics in relapsed and refractory classic Hodgkin lymphoma Open
In classic Hodgkin-lymphoma (cHL), only a few cases recur, and only a limited fraction of patients is primary-refractory to standard-polychemotherapy. Underlying genomic features of unfavorable clinical courses remain sparsely characterize…
View article: Neolithic introgression of IL23R-related protection against chronic inflammatory bowel diseases in modern Europeans
Neolithic introgression of IL23R-related protection against chronic inflammatory bowel diseases in modern Europeans Open
German Research Foundation (EXC 2167 390884018 and EXC 2150 390870439).
View article: Uncovering the Understanding of the Concept of Patient Similarity in Cancer Research and Treatment: Scoping Review (Preprint)
Uncovering the Understanding of the Concept of Patient Similarity in Cancer Research and Treatment: Scoping Review (Preprint) Open
BACKGROUND Patient similarity is a fundamental concept in precision oncology, offering a pathway to personalized medicine by identifying patterns and shared characteristics among patients. This concept enables stratification into clinical…
View article: Endoplasmic Reticulum Proteins Impact Penetrance in a Pink1-Mutant Drosophila Model
Endoplasmic Reticulum Proteins Impact Penetrance in a Pink1-Mutant Drosophila Model Open
Parkinson’s disease (PD) is a neurodegenerative disorder with a high variability of age at onset, disease severity, and progression. This suggests that other factors, including genetic, environmental, or biological factors, are at play in …
View article: Empowering personalized oncology: evolution of digital support and visualization tools for molecular tumor boards
Empowering personalized oncology: evolution of digital support and visualization tools for molecular tumor boards Open
View article: Functional and structural polypharmacology of indazole-based privileged ligands to tackle the undruggability of membrane transporters
Functional and structural polypharmacology of indazole-based privileged ligands to tackle the undruggability of membrane transporters Open
Despite the significant roles of solute carrier (SLC) and ATP-binding cassette (ABC) transporters in human health and disease, most remain poorly characterized as intrinsic and/or xenobiotic ligands are unknown, rendering them as 'undrugga…
View article: Endoplasmic Reticulum Proteins Impact Penetrance in a <i>Pink1</i>-Mutant <i>Drosophila</i> Model
Endoplasmic Reticulum Proteins Impact Penetrance in a <i>Pink1</i>-Mutant <i>Drosophila</i> Model Open
Parkinson’s disease (PD) is a neurodegenerative disorder with a high variability of age at onset, disease severity, and progression. This suggests that other factors, including genetic, environ-mental, or biological factors, are at p…
View article: Whole-Exome Sequencing, Mutational Signature Analysis, and Outcome in Multiple Myeloma—A Pilot Study
Whole-Exome Sequencing, Mutational Signature Analysis, and Outcome in Multiple Myeloma—A Pilot Study Open
The complex and heterogeneous genomic landscape of multiple myeloma (MM) and many of its clinical and prognostic implications remains to be understood. In other cancers, such as breast cancer, using whole-exome sequencing (WES) and molecul…
View article: Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing Open
Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (∼25%) and the identification of several disease-linked genes, the etiology in…
View article: Large-scale global retrospective study on the interaction between ancestry and risk of comorbid autoimmune diseases in patients with pemphigus
Large-scale global retrospective study on the interaction between ancestry and risk of comorbid autoimmune diseases in patients with pemphigus Open
The pemphigus family of skin blistering diseases represents a rare yet potentially life-threatening condition characterized by multiple known genetic loci associated with other autoimmune disorders. While several studies have empirically i…
View article: Data Visualization Support for Tumor Boards and Clinical Oncology: Scoping Review (Preprint)
Data Visualization Support for Tumor Boards and Clinical Oncology: Scoping Review (Preprint) Open
BACKGROUND Complex and expanding data sets in clinical oncology applications require flexible and interactive visualization of patient data to provide physicians and other medical professionals with a maximum amount of information. In par…
View article: Data Visualization Support for Interdisciplinary Team Treatment Planning In Clinical Oncology: Scoping Review (Preprint)
Data Visualization Support for Interdisciplinary Team Treatment Planning In Clinical Oncology: Scoping Review (Preprint) Open
View article: Characterization of the Gut and Skin Microbiome over Time in Young Children with IgE-Mediated Food Allergy
Characterization of the Gut and Skin Microbiome over Time in Young Children with IgE-Mediated Food Allergy Open
Background/Objectives: The prevalence of food allergy (FA) in children is increasing. Dysbiosis of the microbiome has been linked to FA but needs to be better understood. We aimed to characterize the gut and skin microbiome of young food-a…