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

[Developmental disorders of man. Part 2].

J M Opitz1

  • 1Shodair, Childrens Hospital, Helena.

Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde
|May 1, 1992
PubMed
Summary
This summary is machine-generated.

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

A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.

American journal of medical genetics. Part A·2017
Same author

Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. 1988.

American journal of medical genetics. Part A·2013
Same author

The cardiofaciocutaneous syndrome.

Journal of medical genetics·2006
Same author

"Double-muscle" trait in cattle: a possible model for Wiedemann-Beckwith syndrome.

Fetal and pediatric pathology·2006
Same author

Transitory hypogammaglobulinemia of infancy in FG syndrome.

American journal of medical genetics. Part A·2005
Same author

Genetics of tethered cord "syndrome": The FG syndrome.

American journal of medical genetics. Part A·2004
Same journal

[The COVID-19 pandemic-How did it affect the mental health of children?]

Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde·2023
Same journal

[COVID-19 vaccination in children and adolescents].

Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde·2023
Same journal

[Prevalence of post-COVID-19 in nonhospitalized adolescents and young adults].

Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde·2023
Same journal

[Education and education deficits in day care centers and schools during the coronavirus pandemic].

Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde·2023
Same journal

[Learning deficits in the COVID-19 pandemic].

Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde·2023
Same journal

[Pediatrics up to date-Brief notes on research].

Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde·2023
See all related articles

Genetics explains development, with recent advances highlighting gene functions. A paired box- and homeobox-containing gene mutation on 11p13 causes human aniridia, mirroring mouse mutations.

Area of Science:

  • Developmental biology
  • Genetics
  • Molecular biology

Context:

  • Genetics emerged from developmental history, focusing on causal understanding of development.
  • Spemann's discovery of the organizer marked a key step in experimental developmental biology.
  • Recent revolutions in developmental biology have renewed interest in homologous animal models for human conditions.

Purpose:

  • To explore the genetic underpinnings of development.
  • To connect gene function to clinically identifiable developmental attributes.
  • To investigate the role of specific genes in human congenital disorders.

Summary:

  • Development involves complex, epigenetically regulated gene networks, including those for cell adhesion and transcription factors.
  • A newly identified human gene on 11p13, a paired box- and homeobox-containing gene, causes aniridia.

Related Experiment Videos

  • This human mutation is homologous to the mouse Pax-6 gene mutation causing the Sey (small eye) phenotype.

    • Impact:

    • The identification of the 11p13 gene provides a direct link between specific gene mutations and human developmental disorders like aniridia.
    • This finding underscores the importance of homologous animal models in understanding human development and disease.
    • Advances in developmental biology offer new insights into the genetic regulation of embryonic development and congenital anomalies.