0000000001035249

AUTHOR

Stephanie Heilmann-heimbach

0000-0003-1057-465x

showing 2 related works from this author

Epigenetic modifications precede molecular alterations and drive human hepatocarcinogenesis

2021

Development of primary liver cancer is a multistage process. Detailed understanding of sequential epigenetic alterations is largely missing. Here, we performed Infinium Human Methylation 450k BeadChips and RNA-Seq analyses for genome-wide methylome and transcriptome profiling of cirrhotic liver (n = 7), low- (n = 4) and high-grade (n = 9) dysplastic lesions, and early (n = 5) and progressed (n = 3) hepatocellular carcinomas (HCC) synchronously detected in 8 patients with HCC with chronic hepatitis B infection. Integrative analyses of epigenetically driven molecular changes were identified and validated in 2 independent cohorts comprising 887 HCCs. Mitochondrial DNA sequencing was further em…

AdultMaleMitochondrial DNACarcinoma HepatocellularCirrhosisMolecular biologyCarcinogenesisBiologyEpigenesis GeneticHepatitis B ChronicmedicineHumansEpigeneticsAgedHepatologyGene Expression ProfilingLiver NeoplasmsDNA NeoplasmGeneral MedicineMethylationDNA MethylationMiddle AgedHCCSmedicine.diseaseGene Expression Regulation NeoplasticOncologyApoptosisDNA methylationCancer researchEpigeneticsCalmodulin-Binding ProteinsFemaleLiver cancerLiver cancerResearch ArticleJCI Insight
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Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness

2017

Male-pattern baldness (MPB) is a common and highly heritable trait characterized by androgen-dependent, progressive hair loss from the scalp. Here, we carry out the largest GWAS meta-analysis of MPB to date, comprising 10,846 early-onset cases and 11,672 controls from eight independent cohorts. We identify 63 MPB-associated loci (P<5 × 10−8, METAL) of which 23 have not been reported previously. The 63 loci explain ∼39% of the phenotypic variance in MPB and highlight several plausible candidate genes (FGF5, IRF4, DKK2) and pathways (melatonin signalling, adipogenesis) that are likely to be implicated in the key-pathophysiological features of MPB and may represent promising targets for the de…

0301 basic medicineMaleCandidate genegenetics [Trans-Activators]SRD5A2 protein humanMedizinGeneral Physics and Astronomygenetics [3-Oxo-5-alpha-Steroid 4-Dehydrogenase]Genome-wide association studyBioinformatics0302 clinical medicinegenetics [Interferon Regulatory Factors]GenotypeMelatoninGeneticsMultidisciplinaryAdipogenesisEBF1 protein humanintegumentary systemgenetics [Intercellular Signaling Peptides and Proteins]QPhenotypeFGF5 protein humangenetics [Membrane Proteins]Phenotype030220 oncology & carcinogenesisMeta-analysisUrological cancers Radboud Institute for Health Sciences [Radboudumc 15]Interferon Regulatory FactorsIntercellular Signaling Peptides and ProteinsMale-pattern baldnessddc:500Signal TransductionDKK2 protein humanGenotypeFibroblast Growth Factor 53-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics; Adipogenesis/genetics; Alopecia/genetics; Case-Control Studies; Fibroblast Growth Factor 5/genetics; Genetic Association Studies; Genome-Wide Association Study; Genotype; Humans; Intercellular Signaling Peptides and Proteins/genetics; Interferon Regulatory Factors/genetics; Male; Melatonin; Membrane Proteins/genetics; Phenotype; Signal Transduction/genetics; Trans-Activators/geneticsScienceGenomicsBiologygenetics [Signal Transduction]General Biochemistry Genetics and Molecular BiologyArticle03 medical and health sciencesinterferon regulatory factor-43-Oxo-5-alpha-Steroid 4-DehydrogenasemedicineHumansgenetics [Adipogenesis]Genetic Association Studiesgenetics [Alopecia]Case-control studyMembrane ProteinsAlopeciaGeneral Chemistrymedicine.diseasegenetics [Fibroblast Growth Factor 5]030104 developmental biologyCase-Control StudiesTrans-ActivatorsGenome-Wide Association Study
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