Jove
Visualize
Contact Us
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 Concept Videos

Cushing Syndrome II: Pathophysiology01:19

Cushing Syndrome II: Pathophysiology

Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...
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...
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Graves Disease II: Pathophysiology01:24

Graves Disease II: Pathophysiology

Graves’ disease is an autoimmune disorder characterized by the production of thyroid-stimulating immunoglobulins (TSI) that activate TSH receptors, leading to excessive synthesis and release of thyroid hormones (T3 and T4) and resulting in hyperthyroidism.Among all causes of hyperthyroidism, Graves’ disease is the most common and can happen at any age, though it is more frequent in women. It produces a hypermetabolic state with features such as weight loss, tachycardia, tremor, and heat...
Glaucoma: Overview01:25

Glaucoma: Overview

Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...
Cushing Syndrome I: Introduction01:26

Cushing Syndrome I: Introduction

Cushing syndrome refers to the collection of clinical manifestations that arise when tissues are exposed to excessive amounts of cortisol or cortisol-like medications over an extended period. Cortisol, a glucocorticoid produced by the adrenal cortex, regulates metabolism, immune responses, and the body’s adaptation to stress. When its concentration remains chronically elevated, these physiological pathways become dysregulated, resulting in the characteristic features of the syndrome.Exogenous...

You might also read

Related Articles

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

Sort by
Same author

Malignant development of proliferative verrucous/multifocal leukoplakia: A critical systematic review, meta-analysis and proposal of diagnostic criteria.

Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology·2021
Same author

Letter to the editor: oral lichenoid disease. A new classification proposal.

Medicina oral, patologia oral y cirugia bucal·2008
Same author

Letter to the editor: E-cadherin, laminin and collagen IV expression in the evolution from dysplasia to oral squamous cell carcinoma.

Medicina oral, patologia oral y cirugia bucal·2008
Same author

Immunoexpression of p53, Ki-67 and E-cadherin in basaloid squamous cell carcinoma of the larynx.

Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico·2005

Related Experiment Video

Updated: Jul 4, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

Gorlin-Goltz syndrome: clinicopathologic aspects.

Aitziber Ortega García de Amezaga1, Olatz García Arregui, Sergio Zepeda Nuño

  • 1Oral Medicine, Stomatology Department, Oral Maxillofacial Pathology, Dental Clinic Service, University of Paìs Vasco EHU.

Medicina Oral, Patologia Oral Y Cirugia Bucal
|June 4, 2008
PubMed
Summary

Gorlin-Goltz syndrome, or nevoid basal cell carcinoma syndrome, stems from a "Patched" gene mutation, causing multiple basal cell carcinomas and jaw keratocysts. Early diagnosis and treatment are crucial for managing this genetic disorder.

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Related Experiment Videos

Last Updated: Jul 4, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Area of Science:

  • Genetics
  • Oncology
  • Dermatology

Background:

  • Gorlin-Goltz syndrome (nevoid basal cell carcinoma syndrome) is an autosomal dominant genetic disorder.
  • It results from mutations in the "Patched" tumor suppressor gene.
  • The syndrome exhibits high penetrance and variable expressivity, affecting multiple organ systems.

Purpose of the Study:

  • To review and update the clinicopathologic and therapeutic aspects of Gorlin-Goltz syndrome.
  • To emphasize the importance of recognizing oral and maxillofacial manifestations for early diagnosis and management.
  • To provide essential information for diagnosis, preventive treatment, and genetic counseling.

Main Methods:

  • Literature review of clinicopathologic and therapeutic aspects.
  • Analysis of characteristic major and minor features of the syndrome.
  • Focus on oral and maxillofacial manifestations.

Main Results:

  • Key features include multiple basal cell carcinomas, jaw keratocysts, palmar/plantar pits, and falx cerebri calcification.
  • Associated anomalies span skeletal, dermatologic, and neurologic systems.
  • Aggressive basal cell carcinomas and other malignancies can occur.

Conclusions:

  • Understanding the syndrome's characteristics is vital for timely diagnosis and intervention.
  • Management requires a multidisciplinary approach, including genetic counseling.
  • Early detection and preventive strategies are essential for improving patient outcomes.