Lothar G. Hennighausen

This study investigates the metabolic and gene expression effects of gain- and loss-of-function STAT5B variants in mice, revealing distinct impacts on lipid metabolism and hepatic sexual dimorphism.

The paper shows STAT5B is dominant and functionally distinct from STAT5A in CD8+ T cells, revealing redundancy and asymmetry in their roles during differentiation.

The paper investigates the heritability and transcriptional impact of JAK3, STAT5A, and STAT6 variants in a Tyrolean family, finding that some carriers show activated basal transcriptomes without clinical symptoms.

The paper investigates the protective role of the Stat5bY665F mutation in acute kidney injury using mouse models and transcriptomic analyses.

The paper investigates two STAT5B mutations in T cell leukemias, showing one causes gain-of-function and the other loss-of-function, with distinct impacts on immune cell populations and transcriptional activity.

The paper provides sequencing depth guidelines for comprehensive alternative splicing analysis across tissues, showing that current depths are insufficient and recommending deeper sequencing or long-read technologies.

The paper introduces NeEDL, a network medicine-based method for detecting higher-order epistatic interactions in complex diseases, showing improved statistical significance and applicability across eight diseases.

The paper investigates how two STAT5B SH2 domain variants affect mammary tissue development and lactation by altering enhancer recognition and gene regulation in mice.

The paper identifies a kidney-specific enhancer, E1, that regulates sexually dimorphic Klotho expression through HNF1b binding and shows its role in kidney injury responses.

The paper analyzes alternative splicing patterns in immune cells across SARS-CoV-2 variants and vaccination statuses, finding variant- and vaccination-specific profiles and a unique splicing dynamic in vaccinated Omicron-infected individuals.

The paper uses bulk RNA-seq to analyze immune responses to SARS-CoV-2 variants, showing that 10 million reads per sample can estimate immune cell composition and BCR/TCR sequences.

The paper identifies enhancers regulating a multigene locus active in mammary and salivary glands, showing how cell-specific and shared regulatory elements control gene expression.

The paper identifies a cytokine-responsive promoter element critical for enhancing milk protein gene expression during lactation.

The paper introduces circRNA-sponging, a pipeline to analyze circRNA expression and miRNA sponging, identifying two types of circRNAs based on binding site ratios.

TF-Prioritizer identifies condition-specific transcription factors using multi-modal genomic data and generates an interactive web report.

The paper identifies interferon-induced upregulation of the short ACE2 isoform (dACE2) in renal proximal tubule cells and links it to JAK/STAT pathway activation.

The paper identifies regulatory elements in the ACE2 locus in human airway cells and shows that interferon treatment increases ACE2 and dACE2 RNA levels, which can be suppressed by JAK inhibitors.

The paper shows that Ace2 expression in mammary tissue is induced during pregnancy and lactation through prolactin-activated STAT5 binding to enhancer regions.

The paper identifies STAT5 binding sites within the Lrrc32 super-enhancer and shows their role in regulating Lrrc32 expression in Treg cells and mammary epithelium.

The paper investigates the structural and biological importance of transcription factor binding sites in a complex mammary enhancer during lactation, finding that deletion of canonical sites has limited impact but non-canonical sites are critical.

The paper investigates the role of EZH1 and EZH2 in sex-biased gene expression and liver disease susceptibility by analyzing chromatin modifications in male and female mice.

The paper compares the fidelity of cytosine and adenine base editors in mice, finding BE4 generates more mutations than ABE.

The paper investigates eRNA levels in a mammary super-enhancer and finds they do not correlate with individual enhancer activity but predict super-enhancer activity when elements are removed.