Document Detail

Mechanisms of digit formation: Human malformation syndromes tell the story.
MedLine Citation:
PMID:  21337664     Owner:  NLM     Status:  Publisher    
Identifying the genetic basis of human limb malformation disorders has been instrumental in improving our understanding of limb development. Abnormalities of the hands and/or feet include defects affecting patterning, establishment, elongation, and segmentation of cartilaginous condensations, as well as growth of the individual skeletal elements. While the phenotype of such malformations is highly diverse, the mutations identified to date cluster in genes implicated in a limited number of molecular pathways, namely hedgehog, Wnt, and bone morphogenetic protein. The latter pathway appears to function as a key molecular network regulating different phases of digit and joint development. Studies in animal models not only extended our insight into the pathogenesis of these conditions, but have also contributed to our understanding of the in vivo functions and interactions of these key players. This review is aimed at integrating the current understanding of human digit malformations into the increasing knowledge of the molecular mechanisms of digit development. Developmental Dynamics, 2011. © 2011 Wiley-Liss, Inc.
Sigmar Stricker; Stefan Mundlos
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-2-18
Journal Detail:
Title:  Developmental dynamics : an official publication of the American Association of Anatomists     Volume:  -     ISSN:  1097-0177     ISO Abbreviation:  -     Publication Date:  2011 Feb 
Date Detail:
Created Date:  2011-2-21     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9201927     Medline TA:  Dev Dyn     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 Wiley-Liss, Inc.
Development and Disease Group, Max Planck-Institute for Molecular Genetics, Berlin, Germany, and Institute for Medical and Human Genetics, Charité University Medicine Berlin, Berlin, Germany.
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