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Related Concept Videos

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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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Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
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Updated: Aug 22, 2025

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[Correlation between Connexin 43 Mutation and Skin Diseases].

Xi He1, Da-Hua Wang2

  • 1Department of Dermatology,Affiliated Hospital of China University of Mining and Technology,Xuzhou,Jiangsu 221002,China.

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
|November 14, 2022
PubMed
Summary

Connexins (Cx) are vital for skin barrier function and cell communication. Mutations in the GJA1 gene encoding Cx43 are linked to skin diseases, impacting patient quality of life.

Keywords:
connexin 43gene mutationhemichannel activitypathogenic mechanismskin disease

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Area of Science:

  • Dermatology and Molecular Biology: Focuses on the role of connexins in skin physiology and pathology.

Background:

  • Connexins (Cx) facilitate intercellular communication and material exchange, crucial for skin barrier integrity.
  • Mutations or abnormal expression of Cx genes, including GJA1 (Cx43), are associated with over 14 diseases, significantly affecting patient well-being.
  • Cx43 is widely distributed and plays a key role in skin-related processes like wound healing, keratinization, and tumor development.

Approach:

  • This review synthesizes recent research on the function of Cx43 (GJA1) in the skin barrier.
  • It examines skin diseases linked to GJA1 gene mutations and explores their underlying pathogenic mechanisms.

Key Points:

  • Cx43 is essential for maintaining skin barrier stability and intercellular communication.
  • GJA1 gene mutations are implicated in various skin pathologies.
  • Understanding Cx43's role provides insights into disease mechanisms and potential therapeutic targets.

Conclusions:

  • Cx43 (GJA1) is a critical factor in skin health and disease.
  • Further research into GJA1 mutations and Cx43 function can guide the prevention and treatment of associated skin conditions.