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

Genetics of human situs abnormalities.

B Casey1

  • 1Department of Pathology, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas 77030, USA. bcasey@bcm.tmc.edu

American Journal of Medical Genetics
|July 27, 2001
PubMed
Summary

Genetic factors contribute to human left-right malformations. Research in vertebrates and humans reveals conserved genes and mutations involved in situs development, aiding understanding of these anomalies.

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

<i>"Activity Matters was great - I now realize: if I move, I'm fitter.":</i> development and process evaluation of a web-based program for persons with multiple sclerosis.

Disability and rehabilitation·2023
Same author

Screening for Autism Spectrum Condition Through Inner City Homeless Services in the Republic of Ireland.

Journal of autism and developmental disorders·2022
Same author

Improving Outcomes Among Young Adults with type 1 diabetes: The D1 Now Randomised Pilot Study Protocol.

Diabetic medicine : a journal of the British Diabetic Association·2020
Same author

Behaviour change in diabetes: behavioural science advancements to support the use of theory.

Diabetic medicine : a journal of the British Diabetic Association·2019
Same author

Objective physical activity levels in people with multiple sclerosis: Meta-analysis.

Scandinavian journal of medicine & science in sports·2018
Same author

A storage ring experiment to detect a proton electric dipole moment.

The Review of scientific instruments·2016

Area of Science:

  • Developmental Biology
  • Human Genetics
  • Medical Science

Background:

  • Human left-right malformations, often sporadic, have familial instances.
  • Cytogenetic abnormalities are linked to situs malformations, suggesting genetic predisposition.
  • Understanding the genetic basis of these conditions is crucial for diagnosis and treatment.

Purpose of the Study:

  • To explore the genetic underpinnings of human left-right malformations.
  • To review conserved genes and mutations involved in vertebrate and human development.
  • To highlight advances in understanding the molecular genetics of situs anomalies.

Main Methods:

  • Review of existing literature on human left-right malformations.
  • Analysis of studies on conserved genes in nonhuman vertebrate development.
  • Examination of positional cloning efforts in human genetics.

Main Results:

  • Familial cases and cytogenetic abnormalities indicate a genetic predisposition.
  • Several genes crucial for normal left-right development are conserved across species.
  • Mutations in conserved genes have been identified in human situs malformations.

Conclusions:

  • Genetic factors play a significant role in human left-right malformations.
  • Conserved genes and identified mutations offer insights into developmental pathways.
  • Further research into molecular genetics is essential for understanding these anomalies.

Related Experiment Videos