Jove
Visualize
Contact Us

Related Concept Videos

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,...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Pedigree Analysis01:35

Pedigree Analysis

Overview
Desmosomes01:05

Desmosomes

The term desmosome derives from the Greek words "desmo" and "soma" meaning "adhesion bodies." This structure was first observed during the late 1800s and described as small, dense nodules in the epidermis. Desmosomes are button-like structures that help form an interlinked network of intermediate filaments across the cells. These junctions are  essential to hold cells together under mechanical stress and to maintain tissue integrity. Desmosomes are multi-protein complexes comprising desmosomal...
Structure of Cadherins01:25

Structure of Cadherins

The cadherins were one of the first cell adhesion molecules discovered; the term “cadherins”   is based on their calcium-dependent adhering properties. The first cadherins discovered on the epithelial, neuronal, and placental cells were named E-cadherin, P-cadherin, and N-cadherin, respectively. These classical cadherins share sequence and structural similarities. Other cadherins, including those involved in cell signaling, are grouped into non-classical cadherins. This diversity of cadherins...
Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Effect of Diet Modification on Salivary Parameters and Oratest in High-caries-risk Individuals.

International journal of clinical pediatric dentistry·2018
Same author

Comparison of Clinical and Radiographic Success Rates of Pulpotomy in Primary Molars using Ferric Sulfate and Bioactive Tricalcium Silicate Cement: An <i>in vivo</i> Study.

International journal of clinical pediatric dentistry·2017
Same author

Evaluation of the Antimicrobial Effectiveness and the Effect of Dosage and Frequency of Sugar-free Chewing Gums on Streptococcus mutans Count: An in vivo Microbiological Study.

International journal of clinical pediatric dentistry·2016
Same author

Evaluation of Buccal Infiltration with Articaine and Inferior Alveolar Nerve Block with Lignocaine for Pulp Therapy in Mandibular Primary Molars.

The Journal of clinical pediatric dentistry·2016
Same author

Dental Awareness among Parents and Oral Health of Paediatric Cancer Patients Receiving Chemotherapy.

Journal of clinical and diagnostic research : JCDR·2016
Same author

Surgical Retrieval of Tooth Fragment from Lower Lip and Reattachment after 6 Months of Trauma.

International journal of clinical pediatric dentistry·2015
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Video

Updated: May 19, 2026

Quantification of Orofacial Phenotypes in Xenopus
09:26

Quantification of Orofacial Phenotypes in Xenopus

Published on: November 6, 2014

Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome).

Mohita Marwaha1, Kanwar Deep Singh Nanda

  • 1Department of Pedodontics and Preventive Dentistry, SGT Dental College and Research Institute, Budhera, Tehsil - Gurgaon, Haryana, India.

Contemporary Clinical Dentistry
|August 25, 2012
PubMed
Summary

Ectodermal dysplasias (EDs) are a group of over 170 genetic disorders affecting ectodermal structures. This case highlights a rare presentation of ED with multiple congenital anomalies in a child.

Keywords:
EEC syndromeEctodermal dysplasiaectrodactyly

More Related Videos

Visualization of Chondrocyte Intercalation and Directional Proliferation via Zebrabow Clonal Cell Analysis in the Embryonic Meckel&#8217;s Cartilage
06:40

Visualization of Chondrocyte Intercalation and Directional Proliferation via Zebrabow Clonal Cell Analysis in the Embryonic Meckel’s Cartilage

Published on: October 21, 2015

Facial Transplants in Xenopus laevis Embryos
09:08

Facial Transplants in Xenopus laevis Embryos

Published on: March 26, 2014

Related Experiment Videos

Last Updated: May 19, 2026

Quantification of Orofacial Phenotypes in Xenopus
09:26

Quantification of Orofacial Phenotypes in Xenopus

Published on: November 6, 2014

Visualization of Chondrocyte Intercalation and Directional Proliferation via Zebrabow Clonal Cell Analysis in the Embryonic Meckel&#8217;s Cartilage
06:40

Visualization of Chondrocyte Intercalation and Directional Proliferation via Zebrabow Clonal Cell Analysis in the Embryonic Meckel’s Cartilage

Published on: October 21, 2015

Facial Transplants in Xenopus laevis Embryos
09:08

Facial Transplants in Xenopus laevis Embryos

Published on: March 26, 2014

Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Ectodermal dysplasias (EDs) encompass over 170 distinct genetic conditions.
  • These disorders primarily affect ectodermal-derived structures like hair, teeth, nails, and sweat glands.
  • Some EDs are associated with intellectual disability.

Observation:

  • A 10-year-old male presented with a complex phenotype.
  • The patient exhibited ectrodactyly, syndactyly, ectodermal dysplasia, cleft lip/palate, and hearing loss.
  • Mental retardation was also noted as part of the clinical presentation.

Findings:

  • The case illustrates a severe and multi-systemic manifestation of ectodermal dysplasia.
  • The combination of limb anomalies, craniofacial defects, sensory impairment, and cognitive deficits is rare.
  • This presentation underscores the heterogeneity of EDs.

Implications:

  • This case expands the known spectrum of ectodermal dysplasia phenotypes.
  • It emphasizes the importance of comprehensive evaluation in patients with suspected EDs.
  • Further research into the genetic underpinnings of complex ED presentations is warranted.