Document Detail


How a Hedgehog might see holoprosencephaly.
MedLine Citation:
PMID:  12668593     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Detailed knowledge of the Hedgehog signaling pathway is fundamental to an understanding of vertebrate development as well as several birth defects in humans. Here we review various aspects of Hedgehog synthesis, secretion, distribution and function in the context of the most common anomaly of the developing forebrain in humans, holoprosencephaly. Genetic studies in numerous model organisms are beginning to elucidate the factors that are likely candidates for the causes of early embryonic defects in humans, including holoprosencephaly.
Authors:
Erich Roessler; Maximilian Muenke
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Human molecular genetics     Volume:  12 Spec No 1     ISSN:  0964-6906     ISO Abbreviation:  Hum. Mol. Genet.     Publication Date:  2003 Apr 
Date Detail:
Created Date:  2003-04-01     Completed Date:  2003-11-28     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9208958     Medline TA:  Hum Mol Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  R15-25     Citation Subset:  IM    
Affiliation:
Medical Genetics Branch, National Human Genome Research Institute, Bldg 10, 10C103, National Institutes of Health, Bethesda, MD 20892-1852, USA.
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MeSH Terms
Descriptor/Qualifier:
Animals
Cholesterol / metabolism
Disease Models, Animal
Gene Expression Regulation
Hedgehog Proteins
Holoprosencephaly / genetics*,  metabolism
Humans
Models, Biological
Models, Genetic
Protein Structure, Tertiary
Signal Transduction
Trans-Activators / metabolism*
Chemical
Reg. No./Substance:
0/Hedgehog Proteins; 0/Trans-Activators; 57-88-5/Cholesterol

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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