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Related Concept Videos

X-linked Traits01:19

X-linked Traits

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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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Autoimmune Disorders01:29

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Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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When T cells with CD4 markers are activated, they give rise to two types of effector cells: helper T cells and regulatory T cells. Meanwhile, T cells with CD8 markers differentiate into effector cytotoxic T cells. The differentiation of CD4 T cells into helper T cell subsets, such as Th1, Th2, and Th17 cells, is dependent on the antigen type, antigen-presenting cell, and regulatory cytokines.
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The ability of induced pluripotent stem cells or iPSCs to differentiate into most body cell types has stimulated repair and regenerative medicine research over the past few decades. iPSC-derived blood cells, hepatocytes, beta islet cells, cardiomyocytes, neurons, and other cell types can repair injuries or regenerate damaged tissue in diseases such as diabetes and neurodegenerative disorders.
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Management of atherosclerosis involves an integrated strategy encompassing pharmacological treatment, surgical interventions, lifestyle changes, and nutrition therapy to address the multifactorial nature of the disease.Pharmacological TherapyA cornerstone of atherosclerosis management is the use of pharmacological agents. Statins, such as atorvastatin, are pivotal in inhibiting HMG-CoA reductase, an enzyme that catalyzes an initial step in cholesterol synthesis in the liver. This reduction in...
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Updated: Jul 18, 2025

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
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Treatable Traits in Systemic Sclerosis.

Francesco Amati1,2, Gabriele Bongiovanni1,3, Antonio Tonutti1,3

  • 1Department of Biomedical Sciences, Humanitas University, Pieve Emanuele, Milan, Italy.

Clinical Reviews in Allergy & Immunology
|August 21, 2023
PubMed
Summary
This summary is machine-generated.

Systemic sclerosis (SSc) management needs improvement. A treatable trait approach using biomarkers and phenotypes could enhance precision medicine for better outcomes in this complex connective tissue disease.

Keywords:
Autoimmune disorderSystemic sclerosisTreatable trait

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Area of Science:

  • Rheumatology
  • Immunology
  • Internal Medicine

Background:

  • Systemic sclerosis (SSc) is a severe connective tissue disease with high morbidity and mortality.
  • Characterized by vascular, inflammatory, and fibrotic changes affecting skin and internal organs.
  • Current SSc management is organ-based, with limited individualization.

Purpose of the Study:

  • To review and discuss potential "treatable traits" for SSc.
  • To establish a foundation for a precision medicine approach in SSc.
  • To address unmet needs in SSc stratification and treatment.

Main Methods:

  • Comprehensive literature review and critical discussion.
  • Focus on established and candidate biomarkers.
  • Analysis structured by organ involvement and pathogenetic mechanisms.

Main Results:

  • Identified potential treatable traits in SSc.
  • Highlighted the role of autoantibodies and other serum biomarkers.
  • Linked pathogenetic mechanisms to predictive biomarkers.

Conclusions:

  • A treatable trait strategy, guided by precision medicine, is proposed for SSc.
  • This approach aims to improve outcomes in SSc management.
  • Precision medicine offers an ideal framework for complex SSc cases with unsatisfactory treatments.