Publications by authors named "L Hennighausen"
STAT5B is a vital transcription factor for lymphocytes. Here, function of two STAT5B mutations from human T cell leukemias: one substituting tyrosine 665 with phenylalanine (STAT5B ), the other with histidine (STAT5B ) was interrogated. modeling predicted divergent energetic effects on homodimerization with a range of pathogenicity.
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- The study examines the immune response generated by a third dose of the SARS-CoV-2 vaccine in 62 participants, focusing on antibody and cytokine levels over time.
- Results showed a significant increase in anti-spike antibodies and neutralizing antibodies seven days after the third dose, which were still elevated at day 21, although they decreased by day 180.
- The research highlights a temporary boost in immune response following the third vaccine dose, with some decline in effectiveness noted 180 days later, but still detectable antibody levels remain.
Article Synopsis
- Transcription enhancers are crucial genomic sequences that regulate gene expression and their disruption can lead to diseases, with Klotho being a key gene linked to kidney function and aging.
- This study characterizes two potential Klotho enhancers, finding that only one (E1) functions properly and controls the gene's sexual dimorphism, affecting its expression levels in males and females.
- Despite a significant drop in Klotho mRNA, mutant mice with E1 deletion show normal health markers, but male mice lacking E1 exhibit more severe responses to kidney injury, suggesting a complex adaptation to the loss of Klotho.
Most heritable diseases are polygenic. To comprehend the underlying genetic architecture, it is crucial to discover the clinically relevant epistatic interactions (EIs) between genomic single nucleotide polymorphisms (SNPs) (1-3). Existing statistical computational methods for EI detection are mostly limited to pairs of SNPs due to the combinatorial explosion of higher-order EIs.
View Article and Find Full Text PDFDuring pregnancy, mammary tissue undergoes expansion and differentiation, leading to lactation, a process regulated by the hormone prolactin through the JAK2-STAT5 pathway. STAT5 activation is key to successful lactation making the mammary gland an ideal experimental system to investigate the impact of human missense mutations on mammary tissue homeostasis. Here, we investigated the effects of two human variants in the STAT5B SH2 domain, which convert tyrosine 665 to either phenylalanine (Y665F) or histidine (Y665H), both shown to activate STAT5B in cell culture.
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