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

DAX1 and its network partners: exploring complexity in development.

Robert Clipsham1, Edward R B McCabe

  • 1UCLA Molecular Biology Institute, Los Angeles, CA, USA.

Molecular Genetics and Metabolism
|October 22, 2003
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

Explaining the Black-White Disparity in Preterm Birth: A Consensus Statement From a Multi-Disciplinary Scientific Work Group Convened by the March of Dimes.

Frontiers in reproductive health·2022
Same author

Newborn screening system: Safety, technology, advocacy.

Molecular genetics and metabolism·2021
Same author

Enabling Technologies for Personalized and Precision Medicine.

Trends in biotechnology·2020
Same author

Metabolite flux: A dynamic concept for inherited metabolic disorders as complex traits.

Molecular genetics and metabolism·2019
Same author

Preventable Preterm Birth: A Patient Safety Problem.

Pediatrics·2019
Same author

Modifier genes: Moving from pathogenesis to therapy.

Molecular genetics and metabolism·2017
Same journal

Accessibility and harmonization of biochemical tests for diagnosis and monitoring of Porphyrias in the United States: Recommendations by members of the American Porphyrias Expert Collaborative (APEX).

Molecular genetics and metabolism·2026
Same journal

Participants with long-chain 3-hydroxy-acylCoA dehydrogenase deficiency (LCHADD)/trifunctional protein deficiency (TFPD) report consistent low-fat diet intake over time.

Molecular genetics and metabolism·2026
Same journal

Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort.

Molecular genetics and metabolism·2026
Same journal

Driving treatment for females with X-linked adrenoleukodystrophy.

Molecular genetics and metabolism·2026
Same journal

High dietary fat causes muscle structural breakdown, mitochondrial dysfunction, and contractile deficits in the absence of carnitine palmitoyltransferase 2.

Molecular genetics and metabolism·2026
Same journal

Ketogenic diet therapy in pyruvate dehydrogenase deficiency: Global clinical practice from literature and survey data.

Molecular genetics and metabolism·2026
See all related articles

DAX1 (NR0B1) mutations cause X-linked adrenal hypoplasia congenita (AHC), a fatal condition. This study explores DAX1

Area of Science:

  • Endocrinology
  • Developmental Biology
  • Genetics

Background:

  • DAX1 (NR0B1) is critical for the hypothalamic-pituitary-adrenal-gonadal (HPAG) axis development.
  • Mutations cause X-linked adrenal hypoplasia congenita (AHC), while duplication leads to XY sex reversal.
  • DAX1's precise function in HPAG axis development remains largely undefined.

Purpose of the Study:

  • To review efforts in identifying suitable cell lines for ex vivo NR0B1 analysis.
  • To investigate DAX1's role and network interactions in HPAG axis development.
  • To identify candidate genes for human HPAG developmental disorders.

Main Methods:

  • Literature review of cell line suitability for NR0B1 studies.
  • Analysis of DAX1 network partners in HPAG axis development.

Related Experiment Videos

  • Utilizing model organisms and diverse investigation types.

    • Main Results:

    • Challenges in interpreting cell line studies due to limited characterization.
    • Identification of appropriate cell lines for ex vivo NR0B1 analysis is ongoing.
    • Network analysis approach to understand HPAG axis development.

    Conclusions:

    • Understanding DAX1's function requires optimized ex vivo models and network analysis.
    • This research aims to elucidate normal and abnormal HPAG axis development.
    • Potential identification of novel genetic causes for human HPAG developmental errors.