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 Experiment Videos

Genetic skin diseases with altered aging

L A Goldsmith1

  • 1Department of Dermatology, Boston University School of Medicine, Mass., USA.

Archives of Dermatology
|October 24, 1997
PubMed
Summary

Understanding single gene defects and their complex effects on human phenotypes is crucial. Research explores how genetic mutations lead to altered physiological systems and observable traits, considering host genetic diversity.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

The essential role of dermatology publications in enhancing professional diversity, equity, and inclusion.

Clinics in dermatology·2022
Same author

The essential role of dermatology publications in enhancing professional diversity, equity and inclusion.

The British journal of dermatology·2021
Same author

Dermatological education for the 21st century: prioritizing diversity.

The British journal of dermatology·2020
Same author

Human epidermal transglutaminase.

The Journal of investigative dermatology·2010
Same author

The polypeptide composition of epidermal prekeratin.

Biochimica et biophysica acta·2009
Same author

What is the pathogenesis of acne?

Experimental dermatology·2005

Area of Science:

  • Human genetics
  • Molecular biology
  • Physiology

Background:

  • Biological systems exhibit integration, homeostasis, and functional redundancy.
  • Individual gene defects can disrupt these systems, leading to distinct phenotypes.
  • Historically, identifying the genetic basis of monogenic diseases was challenging.

Purpose of the Study:

  • To explore the challenges in understanding how identified DNA mutations in monogenic diseases lead to altered phenotypes.
  • To highlight the complexity arising from metabolic and structural consequences of single gene alterations.
  • To acknowledge the modifying effects of human genetic diversity on observed phenotypes.

Main Methods:

  • Positional cloning has been instrumental in identifying numerous monogenic defects.
  • Characterization of abnormal genes has advanced our understanding.
  • Current research focuses on linking genotype to phenotype through molecular and physiological analyses.

Main Results:

  • Numerous monogenic defects have been identified and their genes characterized.
  • The link between a specific DNA mutation and its resulting phenotype is complex.
  • Pleiotropy, where a single gene influences multiple phenotypic effects, adds to this complexity.

Conclusions:

  • Connecting a genetic defect to its phenotypic outcome requires understanding intricate biological pathways.
  • Investigating the consequences of gene mutations is essential for comprehending human genetic diseases.
  • Host genetic diversity plays a significant role in modulating the effects of genetic defects.

Related Experiment Videos