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Related Concept Videos

Cell Specific Gene Expression01:58

Cell Specific Gene Expression

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Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
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The JAK-STAT Signaling Pathway01:20

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Several cytokine receptors have tightly bound Janus kinase or JAK proteins attached at their cytosolic tail. Small signaling molecules such as cytokines, growth hormones, or prolactins bind to the cytokine receptors and initiate their dimerization. The dimerization brings the cytosolic JAKs together that trans-phosphorylate and activates each other. The activated JAKs now phosphorylate cytosolic tails of the cytokine receptors, which serve as binding sites for adaptor proteins such as  SH2...
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Notch signaling was first discovered in Drosophila melanogaster, where it is involved in cell lineage differentiation. Notch signaling regulates the maintenance and differentiation of intestinal stem cells or ISCs by controlling the expression of atonal homolog 1 or Atoh1. Atoh1 directs cells to differentiate into secretory cells.
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Related Experiment Video

Updated: May 6, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Hepatic Manifestations of STAT1 Gain-of-Function Variants.

Wesam Aleyadeh1, Wanrun Lin2, Sana A Pirzada1

  • 1Translational Hepatology Section, Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Md.

The Journal of Allergy and Clinical Immunology. in Practice
|February 19, 2026
PubMed
Summary

Primary immune regulatory disorders (PIRDs) can cause liver disease. A STAT1 gain-of-function mutation highlights rare vascular and portal hypertension liver issues in these immune disorders.

Keywords:
Autoimmune hepatitisJAK inhibitorsNodular regenerative hyperplasiaPrimary immune regulatory disordersProgressive multifocal leukoencephalopathySTAT1 gain-of-function

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Area of Science:

  • Immunology
  • Hepatology
  • Genetics

Background:

  • Primary immune regulatory disorders (PIRDs) are inborn errors of immunity causing immune dysregulation and multisystem disease.
  • Hepatic manifestations of PIRDs can mimic various liver diseases, including autoimmune, cholestatic, and microvascular types.
  • Heterozygous Signal Transducer and Activator of Transcription 1 (STAT1) gain-of-function (GOF) variants are typically linked to autoimmune hepatitis-like liver injury, with vascular and portal hypertensive phenotypes being under-recognized.

Purpose of the Study:

  • To describe a case of a young adult diagnosed with a STAT1 GOF mutation presenting with recurrent infections and progressive liver disease.
  • To illustrate the diverse hepato-gastrointestinal involvement in PIRDs.
  • To emphasize diagnostic considerations, imaging, histopathologic features, and management strategies for STAT1 GOF mutations.

Main Methods:

  • Case report of a young adult with recurrent infections and progressive liver disease.
  • Genetic analysis to identify STAT1 gain-of-function (GOF) pathogenic variants.
  • Review of diagnostic, imaging, and histopathologic findings.
  • Discussion of management strategies including immunosuppression, Janus kinase (JAK) inhibition, and hematopoietic stem cell transplantation.

Main Results:

  • A young adult was diagnosed with a STAT1 GOF mutation following recurrent infections and progressive liver disease.
  • The case demonstrated a spectrum of hepato-gastrointestinal involvement associated with PIRDs.
  • Potential complications of JAK inhibition, such as progressive multifocal leukoencephalopathy, were noted.

Conclusions:

  • STAT1 gain-of-function mutations can present with under-recognized vascular and portal hypertensive liver manifestations.
  • Comprehensive diagnostic and management strategies are crucial for patients with PIRDs and hepatic involvement.
  • Targeted therapies like JAK inhibitors and hematopoietic stem cell transplantation offer treatment options, but infectious complications must be monitored.