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Related Concept Videos

Notch Signaling Pathway03:14

Notch Signaling Pathway

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The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
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The Hedgehog gene (Hh) was first discovered due to its control of the growth of disorganized, hair-like bristles phenotype in Drosophila, much like hedgehog spines. Hh plays a crucial role in the development of organs and the maintenance of homeostasis in both invertebrates and vertebrates. However, while Drosophila has only one Hh protein, mammals have multiple functional Hedgehog proteins - Sonic (Shh), Desert (Dhh), and Indian Hedgehog (Ihh). All of these homologous proteins have adapted to...
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Canonical Wnt Signaling Pathway02:54

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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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The TGF-β signaling pathway regulates cell growth, differentiation, adhesion, motility, and development. TGF-β ligands that induce TGF-β signaling are synthesized in their latent form. Several proteases or cell surface receptors such as integrins act upon the latent form, releasing the active ligand. There are three types of mammalian TGF-βs: (TGF-β1, TGF-β2, and TGF-β3) that bind as homodimers or heterodimers to TGF-β receptors. The TGF-β receptors...
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Genomic Imprinting and Inheritance02:30

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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Related Experiment Video

Updated: Feb 26, 2026

Development of Amelogenin-chitosan Hydrogel for In Vitro Enamel Regrowth with a Dense Interface
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Amelogenesis Imperfecta; Genes, Proteins, and Pathways.

Claire E L Smith1,2, James A Poulter2, Agne Antanaviciute3

  • 1Division of Oral Biology, School of Dentistry, St. James's University Hospital, University of LeedsLeeds, United Kingdom.

Frontiers in Physiology
|July 12, 2017
PubMed
Summary
This summary is machine-generated.

Amelogenesis imperfecta (AI) is a group of inherited enamel defects. Research is uncovering the genetic causes and protein functions essential for healthy enamel development, aiding clinical care.

Keywords:
LOVDLeiden Open Variant Databaseameloblastsamelogenesisamelogenesis geneticsamelogenesis imperfectabiomineralizationenamel

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Area of Science:

  • Genetics
  • Developmental Biology
  • Biochemistry

Background:

  • Amelogenesis imperfecta (AI) encompasses inherited disorders of enamel formation.
  • AI leads to enamel defects, impacting tooth function, aesthetics, and causing pain and early tooth loss.
  • The genetic and mechanistic basis of AI is increasingly understood.

Purpose of the Study:

  • To review genes and mutations causing isolated AI.
  • To elucidate the roles of encoded proteins in amelogenesis.
  • To analyze trends in AI genetics and discuss clinical translation.

Main Methods:

  • Literature review of genes and mutations causing isolated AI.
  • Analysis of human phenotypes, inheritance patterns, mouse models, and in vitro studies.
  • Utilized an LOVD database of published AI gene mutations.

Main Results:

  • Mutations in at least eighteen genes cause isolated AI.
  • Encoded proteins include enamel matrix proteins, proteases, adhesion molecules, and calcium regulators.
  • Identified trends in genes and mutations from 270 families with molecular diagnoses.

Conclusions:

  • Understanding AI genetics is crucial for amelogenesis.
  • AI genetic discoveries offer potential for improved clinical care pathways.
  • Further research may lead to novel AI treatments and prevention strategies.