Steffen Uebe

LAMA5 deficiency disrupts ECM-WNT crosstalk in chondrogenesis and contributes to idiopathic short stature

The paper identifies LAMA5 as a candidate gene for idiopathic short stature, showing its role in ECM-WNT signaling during chondrogenesis and demonstrating partial rescue via WNT activation.

Genetic liability to psoriasis predicts severe disease outcomes

This study identifies genetic risk factors associated with severe psoriasis and shows that polygenic risk scores can predict severe disease outcomes better than traditional risk factors.

Integrated data from R405W desmin knock-in mice highlight alterations of mitochondrial function, protein quality control, and myofibrillar structure in the initial stages of myofibrillar myopathy

This study uses R405W desmin knock-in mice to identify mitochondrial dysfunction, protein quality control issues, and myofibrillar structural changes in myofibrillar myopathy.

Single-cell dissection of cell hierarchies in urine-derived stem cells - application to chondrogenesis and general scalability

The paper establishes urine-derived stem cells (USCs) as a non-invasive source for chondrogenesis, revealing cell hierarchy and differentiation trajectories through single-cell RNA sequencing.

GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets

This study performs a GWAS meta-analysis of psoriasis, identifying 109 susceptibility loci, including 45 new ones, and highlights potential therapeutic targets and disease mechanisms.

Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci

This study evaluates the accuracy of next-generation sequencing in capturing allele frequencies for polygenic risk score loci in breast cancer, finding significant deviations affecting risk prediction.

Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study

The paper identifies pathogenic variants in tubulointerstitial kidney disease genes in 12.5% of a CKD cohort using targeted sequencing and clinical criteria.

Network and systems based re-engineering of dendritic cells with non-coding RNAs forcancer immunotherapy

The paper identifies miRNAs that enhance dendritic cell immunogenicity using RNA sequencing and systems biology, and provides a database for therapeutic miRNA-gene interactions.

A large cross-ancestry meta-analysis of genome-wide association studies identifies 69 novel risk loci for primary open-angle glaucoma and includes a genetic link with Alzheimer's disease

Prenatal diagnosis of HNF1B-associated renal cysts: Need to differentiate intragenic variants from 17q12 microdeletion syndrome?

The paper describes prenatal and postnatal phenotypes of seven individuals with HNF1B aberrations and compares their clinical and genetic data to previous studies, highlighting the need for accurate variant classification.

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

The paper identifies and characterizes TUBA1A variants in 166 individuals with tubulinopathy, highlighting common phenotypes and genotype-phenotype associations.

Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium

The paper analyzes genetic integrity in iPSCs from the ForIPS consortium, identifying somatic variants and highlighting the need for individual clone evaluation.

The association between the HLA-DRB1 shared epitope alleles and the risk of rheumatoid arthritis is influenced by massive gene-gene interactions.

The paper shows that HLA-DRB1 shared epitope alleles' risk for ACPA-positive RA is significantly influenced by interactions with non-HLA SNPs.