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Related Concept Videos

Teeth01:15

Teeth

The formation of teeth, also known as odontogenesis, is a complex process that begins in utero, around the sixth week of embryonic development. There are three stages to this process: the bud stage, the cap stage, and the bell stage.
In the bud stage, the tooth germ (an aggregation of cells) starts to form in the developing jawbone. During the cap stage, the tooth germ differentiates into enamel organ, dental papilla, and dental sac, which will later develop into the tooth's enamel, dentin and...
Tooth Anatomy01:21

Tooth Anatomy

The human tooth enables us to eat a variety of foods, speak clearly, and even aid in shaping our faces. Teeth are composed of various elements that work together. Here's a detailed look at the anatomy of a human tooth.
The Crown, Neck, and Root
The visible part of the tooth is referred to as the crown. It's covered by enamel, the hardest substance in the human body. The crown is uniquely shaped for each type of tooth, allowing for different functions such as cutting, tearing, or grinding food.
Pleiotropy01:33

Pleiotropy

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,...
Determination01:51

Determination

During embryogenesis, cells become progressively committed to different fates through a two-step process: specification followed by determination. Specification is demonstrated by removing a segment of an early embryo, “neutrally” culturing the tissue in vitro—for example, in a petri dish with simple medium—and then observing the derivatives. If the cultured region gives rise to cell types that it would normally generate in the embryo, this means that it is specified. In contrast, determination...
Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
Cadherins in Tissue Organization01:19

Cadherins in Tissue Organization

The cadherins are a superfamily of cell adhesion molecules comprising over 180 variants, with specific tissues expressing a particular combination of cadherin types. Cadherins generally exhibit homophilic binding; i.e., cadherins on one cell bind to cadherins of the same or closely related type on another cell. Thus, cells of the same type have a specific affinity to bind to each other and sort themselves into clusters to form tissues.
Cell Sorting During Development
Cell sorting plays an...

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Updated: Jun 22, 2026

Isolation of Epithelial Cells from Human Dental Follicle
04:07

Isolation of Epithelial Cells from Human Dental Follicle

Published on: November 5, 2021

From ectodermal dysplasia to selective tooth agenesis.

Gabriele I Mues1, Rachel Griggs, Andrew J Hartung

  • 1Department of Biomedical Sciences, Texas A&M Health Science Center, Baylor College of Dentistry, 3302 Gaston Avenue, Dallas, TX 75246, USA.

American Journal of Medical Genetics. Part A
|June 9, 2009
PubMed
Summary
This summary is machine-generated.

Hypohidrotic ectodermal dysplasia (HED) research reveals genetic complexity, showing one gene can cause varied phenotypes. Detailed phenotyping aids in understanding ectodermal dysplasia syndromes and their genetic underpinnings.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Dermatology

Background:

  • Hypohidrotic ectodermal dysplasia (HED) is a group of genetic disorders affecting ectodermal structures.
  • Understanding the genetic basis of HED is crucial for diagnosing and managing related syndromes.
  • Phenotypic variability within HED highlights the complexity of genotype-phenotype correlations.

Purpose of the Study:

  • To explore the genetic heterogeneity and phenotypic diversity of ectodermal dysplasia syndromes.
  • To demonstrate the utility of detailed phenotype characterization in identifying causative genes.
  • To report a novel mutation in the EDA gene associated with selective tooth agenesis.

Main Methods:

  • Review of historical data and genetic studies on hypohidrotic ectodermal dysplasia.
  • Analysis of genotype-phenotype correlations in patients with ectodermal dysplasia syndromes.
  • Genetic sequencing to identify mutations in genes such as EDA, EDAR, and EDARADD.

Main Results:

  • Phenotypically identical HED can result from mutations in different genes (EDA, EDAR, EDARADD).
  • Mutations in the same gene (EDA) can lead to distinct phenotypes, including HED and selective tooth agenesis.
  • Mutations in downstream genes (NEMO) can significantly modify phenotypes, causing conditions like incontinentia pigmenti (IP) and HED with immunodeficiency.

Conclusions:

  • Hypohidrotic ectodermal dysplasia serves as a model for understanding other ectodermal dysplasia syndromes.
  • Precise phenotyping is essential for uncovering the genetic causes of ectodermal dysplasias.
  • A newly identified EDA gene mutation expands the known spectrum of phenotypes in HED.