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Article
Open AccessTargeted deletion of von-Hippel-Lindau in the proximal tubule conditions the kidney against early diabetic kidney disease
Diabetic kidney disease (DKD) is the leading cause of end-stage renal disease. Glomerular hyperfiltration and albuminuria subject the proximal tubule (PT) to a subsequent elevation of workload, growth, and hyp...
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Article
Open AccessDNA methyltransferase 3A controls intestinal epithelial barrier function and regeneration in the colon
Genetic variants in the DNA methyltransferase 3 A (DNMT3A) locus have been associated with inflammatory bowel disease (IBD). DNMT3A is part of the epigenetic machinery physiologically involved in DNA methylati...
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Article
Open AccessCD79a promotes CNS-infiltration and leukemia engraftment in pediatric B-cell precursor acute lymphoblastic leukemia
Central nervous system (CNS) involvement remains a challenge in the diagnosis and treatment of acute lymphoblastic leukemia (ALL). In this study, we identify CD79a (also known as Igα), a signaling component of...
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Article
Open AccessA combined epigenome- and transcriptome-wide association study of the oral masticatory mucosa assigns CYP1B1 a central role for epithelial health in smokers
The oral mucosa has an important role in maintaining barrier integrity at the gateway to the gastrointestinal and respiratory tracts. Smoking is a strong environmental risk factor for the common oral inflammat...
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Article
Open AccessLow-level mitochondrial heteroplasmy modulates DNA replication, glucose metabolism and lifespan in mice
Mutations in mitochondrial DNA (mtDNA) lead to heteroplasmy, i.e., the intracellular coexistence of wild-type and mutant mtDNA strands, which impact a wide spectrum of diseases but also physiological processes...
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Article
Open AccessThe antibiotic resistome and microbiota landscape of refugees from Syria, Iraq and Afghanistan in Germany
Multidrug-resistant bacteria represent a substantial global burden for human health, potentially fuelled by migration waves: in 2015, 476,649 refugees applied for asylum in Germany mostly as a result of the Sy...
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Article
Open AccessPublisher Correction: Identification and characterization of two functional variants in the human longevity gene FOXO3
The original version of this Article contained an error in the spelling of the author Robert Häsler, which was incorrectly given as Robert Häesler. This has now been corrected in both the PDF and HTML versions...
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Article
Open AccessIdentification and characterization of two functional variants in the human longevity gene FOXO3
FOXO3 is consistently annotated as a human longevity gene. However, functional variants and underlying mechanisms for the association remain unknown. Here, we perform resequencing of the FOXO3 locus and single-nu...
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Article
Genome-wide association analysis identifies variation in vitamin D receptor and other host factors influencing the gut microbiota
Andre Franke and colleagues perform a genome-wide association study for the gut microbiome, examining the influence of host genetics on overall microbial variation and individual taxa. They find significant as...
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Article
Open AccessGenome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci
Ulcerative colitis (UC), a complex polygenic disorder, is one of the main subphenotypes of inflammatory bowel disease. A comprehensive dissection of the genetic etiology of UC needs to assess the contribution ...
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Article
Open AccessDissecting genetics of cutaneous miRNA in a mouse model of an autoimmune blistering disease
MicroRNAs (miRNAs) are small endogenous non-coding RNAs that control genes at post-transcriptional level. They are essential for development and tissue differentiation, and such altered miRNA expression patterns ...
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Article
Open AccessAnalysis of intestinal microbiota in hybrid house mice reveals evolutionary divergence in a vertebrate hologenome
Recent evidence suggests that natural selection operating on hosts to maintain their microbiome contributes to the emergence of new species, that is, the ‘hologenomic basis of speciation’. Here we analyse the ...
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Article
Transcriptome and genome sequencing uncovers functional variation in humans
Genome sequencing projects are discovering millions of genetic variants in humans, and interpretation of their functional effects is essential for understanding the genetic basis of variation in human traits. ...
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Article
Open AccessIncreased intestinal permeability and tight junction disruption by altered expression and localization of occludin in a murine graft versus host disease model
Hematopoietic stem cell transplantation is increasingly performed for hematologic diseases. As a major side effect, acute graft versus host disease (GvHD) with serious gastrointestinal symptoms including diarr...
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Article
Open AccessA tissue-specific landscape of sense/antisense transcription in the mouse intestine
The intestinal mucosa is characterized by complex metabolic and immunological processes driven highly dynamic gene expression programs. With the advent of next generation sequencing and its utilization for the...
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Article
Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL)
Andre Franke and colleagues report results of a genome-wide association and replication study of ulcerative colitis. They identify two new regions of association at 7q22 and at 22q13 in IL17REL.
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Article
A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1
We performed a genome-wide association study of 19,779 nonsynonymous SNPs in 735 individuals with Crohn disease and 368 controls. A total of 7,159 of these SNPs were informative. We followed up on all 72 SNPs ...
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Article
Open AccessCan Zipf's law be adapted to normalize microarrays?
Normalization is the process of removing non-biological sources of variation between array experiments. Recent investigations of data in gene expression databases for varying organisms and tissues have shown t...