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The gene encoding the main signaling molecules of the Wnt signaling pathways (the Wnt proteins) was discovered almost four decades ago by Nüsslein-Volhard and Wieschaus. They identified and originally named the gene "wingless" (wg) after a phenotype discovered during their landmark genetic screen in Drosophila for body pattern defects. At around the same time, another researcher named Harold Varmus found that a murine tumor virus activates the mammalian wg homolog, Int-1, which...
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Wnt is a zygotic effect gene that is expressed during very early embryonic development. It regulates various processes in animals starting from early development through the adult stage, such as organogenesis in the embryo and maintenance of neuronal and blood stem cells. Wnt proteins can induce a wide variety of intracellular pathways depending upon the specific abilities of different Wnt ligands to form a complex with shared and cognate receptors in the presence of different co-receptors. The...
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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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Updated: Oct 31, 2025

Modeling Paracrine Noncanonical Wnt Signaling In Vitro
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WNT10A, dermatology and dentistry.

B J Doolan1, A Onoufriadis1, P Kantaputra2,3

  • 1St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK.

The British Journal of Dermatology
|June 29, 2021
PubMed
Summary
This summary is machine-generated.

Genetic variants in WNT10A are linked to various ectodermal disorders affecting skin and teeth. These WNT10A gene mutations have clinical relevance for dermatologists and dentists, impacting development and regeneration.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Dermatology

Background:

  • Wingless-related integration sites (WNTs) are crucial secreted glycoproteins in development and regeneration.
  • WNT10A, a specific WNT ligand, plays a key role in skin, appendages, and tooth development.
  • WNT10A gene variants are associated with a spectrum of ectodermal disorders.

Purpose of the Study:

  • To review the association between WNT10A gene variants and ectodermal disorders.
  • To explore the clinical relevance of WNT10A mutations for dermatologists and dentists.
  • To document WNT10A mutations and their genotype-phenotype correlations.

Main Methods:

  • Literature review of WNT10A gene variants and associated phenotypes.
  • Analysis of genotype-phenotype correlations in syndromic and nonsyndromic disorders.
  • Compilation of reported WNT10A mutations.

Main Results:

  • Germline mutations in WNT10A cause autosomal recessive ectodermal dysplasias.
  • Heterozygous carriers may exhibit milder ectodermal anomalies.
  • Population variants in WNT10A are linked to diverse skin, hair, sweat gland, and dental alterations.
  • WNT10A variants are implicated in conditions like alopecia, acne, lipodystrophy, keloids, wound healing, tooth agenesis, and oral clefting.
  • Abnormalities in WNT10A are also found in kidney fibrosis, keratoconus, certain cancers, and neuropathic pain.

Conclusions:

  • WNT10A is a significant contributor to both normal development and pathological conditions affecting ectodermal derivatives.
  • Understanding WNT10A variants is crucial for diagnosing and managing a range of genetic disorders.
  • Further research into WNT10A's role can advance treatments in dermatology, dentistry, and other fields.