-
Article
Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis
Rheumatoid arthritis (RA) is a highly heritable complex disease with unknown etiology. Multi-ancestry genetic research of RA promises to improve power to detect genetic signals, fine-map** resolution and per...
-
Article
Open AccessComplement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis
Copy number (CN) polymorphisms of complement C4 play distinct roles in many conditions, including immune-mediated diseases. We investigated the association of C4 CN with systemic sclerosis (SSc) risk. Imputed tot...
-
Article
Open AccessIntegrative epigenomics in Sjögren´s syndrome reveals novel pathways and a strong interaction between the HLA, autoantibodies and the interferon signature
Primary Sjögren’s syndrome (SS) is a systemic autoimmune disease characterized by lymphocytic infiltration and damage of exocrine salivary and lacrimal glands. The etiology of SS is complex with environmental ...
-
Article
The metabolic growth limitations of petite cells lacking the mitochondrial genome
Eukaryotic cells can survive the loss of their mitochondrial genome, but consequently suffer from severe growth defects. ‘Petite yeasts’, characterized by mitochondrial genome loss, are instrumental for studyi...
-
Article
Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation
Characterizing genetic influences on DNA methylation (DNAm) provides an opportunity to understand mechanisms underpinning gene regulation and disease. In the present study, we describe results of DNAm quantita...
-
Article
Open AccessGWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways
Systemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide association study (GWAS), and meta-analysis with previou...
-
Chapter
Primary Biliary Cirrhosis, Primary Sclerosing Cholangitis, and Autoimmune Hepatitis
Autoimmune liver diseases (AILDs), comprising primary biliary cirrhosis (PBC; also referred to as primary biliary cholangitis), primary sclerosing cholangitis (PSC), and autoimmune hepatitis (AIH), are complex...
-
Article
Open AccessMeta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations
In recent years, research has consistently proven the occurrence of genetic overlap across autoimmune diseases, which supports the existence of common pathogenic mechanisms in autoimmunity. The objective of th...
-
Article
Open AccessAuthor Correction: LSD1 modulates the non-canonical integrin β3 signaling pathway in non-small cell lung carcinoma cells
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper.
-
Article
Open AccessEpigenomic profiling of non-small cell lung cancer xenografts uncover LRP12 DNA methylation as predictive biomarker for carboplatin resistance
Non-small cell lung cancer (NSCLC) is the most common cause of cancer-related deaths worldwide and is primarily treated with radiation, surgery, and platinum-based drugs like cisplatin and carboplatin. The maj...
-
Article
Epithelial barrier dysfunction in lymphocytic colitis through cytokine-dependent internalization of claudin-5 and -8
Watery diarrhea is the cardinal symptom of lymphocytic colitis (LC). We have previously shown that colonic Na malabsorption is one of the major pathologic alterations of LC and found evidence for an epithelial...
-
Article
Open AccessLSD1 modulates the non-canonical integrin β3 signaling pathway in non-small cell lung carcinoma cells
The epigenetic writer lysine-specific demethylase 1 (LSD1) is aberrantly upregulated in many cancer types and its overexpression correlates with poor survival and tumor progression. In this study, we analysed ...
-
Article
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis
In up to 30 % of patients with colorectal adenomatous polyposis, no germline mutation in the known genes APC, causing familial adenomatous polyposis, MUTYH, causing MUTYH-associated polyposis, and POLE or POLD1, ...
-
Article
Open AccessUsing the canary genome to decipher the evolution of hormone-sensitive gene regulation in seasonal singing birds
While the song of all songbirds is controlled by the same neural circuit, the hormone dependence of singing behavior varies greatly between species. For this reason, songbirds are ideal organisms to study ulti...
-
Article
Open AccessHsp90 inhibition differentially destabilises MAP kinase and TGF-beta signalling components in cancer cells revealed by kinase-targeted chemoproteomics
The heat shock protein 90 (Hsp90) is required for the stability of many signalling kinases. As a target for cancer therapy it allows the simultaneous inhibition of several signalling pathways. However, its inh...
-
Chapter
Generation and Analysis of Genome-Wide DNA Methylation Maps
Cytosine methylations are common mechanisms of epigenetic modifications of DNA molecules which also influence gene expression and cell phenotypes. Thus, 5 methyl-cytosine is sometimes called the fifth base of ...
-
Article
Open AccessTargeted high throughput sequencing in clinical cancer Settings: formaldehyde fixed-paraffin embedded (FFPE) tumor tissues, input amount and tumor heterogeneity
Massively parallel sequencing technologies have brought an enormous increase in sequencing throughput. However, these technologies need to be further improved with regard to reproducibility and applicability t...
-
Article
The power of NGS technologies to delineate the genome organization in cancer: from mutations to structural variations and epigenetic alterations
The development of cancer is characterized by the joined occurrence of alterations on different levels—from single nucleotide changes via structural and copy number variations to epigenetic alterations. With t...
-
Article
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
Peter Robinson and colleagues performed exome sequencing on three siblings to identify mutations in PIGV in Hyperphosphatasia-Mental Retardation (HPMR) syndrome.
-
Article
Open AccessMicroarray analysis of tumor necrosis factor α induced gene expression in U373 human glioblastoma cells
Tumor necrosis factor α (TNF) is able to induce a variety of biological responses in the nervous system including inflammation and neuroprotection. Human astrocytoma cells U373 have been widely used as a model...
