Document Detail

Signaling pathways in human skeletal dysplasias.
MedLine Citation:
PMID:  20690819     Owner:  NLM     Status:  MEDLINE    
Human skeletal dysplasias are disorders that result from errors in bone, cartilage, and joint development. A complex series of signaling pathways, including the FGF, TGFbeta, BMP, WNT, Notch, and Hedgehog pathways, are essential for proper skeletogenesis, and human skeletal dysplasias are often a consequence of primary or secondary dysregulation of these pathways. Although these pathways interact to regulate bone, cartilage, and joint formation, human genetic phenotypes point to the predominant action of specific components of these pathways. Mutations in the genes with a role in metabolic processing within the cell, the extracellular matrix, and transcriptional regulation can lead to dysregulation of cell-cell and cell-matrix signaling that alters tissue patterning, cell differentiation, proliferation, and apoptosis. We propose a morphogen rheostat model to conceptualize how mutations in different metabolic processes can lead to the integration of differential signaling inputs within a temporal and spatial context to generate apparently divergent skeletal phenotypes.
Dustin Baldridge; Oleg Shchelochkov; Brian Kelley; Brendan Lee
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Annual review of genomics and human genetics     Volume:  11     ISSN:  1545-293X     ISO Abbreviation:  Annu Rev Genomics Hum Genet     Publication Date:  2010  
Date Detail:
Created Date:  2010-09-08     Completed Date:  2010-09-30     Revised Date:  2013-10-17    
Medline Journal Info:
Nlm Unique ID:  100911346     Medline TA:  Annu Rev Genomics Hum Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  189-217     Citation Subset:  IM    
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
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MeSH Terms
Bone Diseases, Developmental / genetics,  metabolism
Cartilage Diseases / embryology,  genetics,  metabolism*
Gene Expression Regulation, Developmental
Joint Diseases / embryology,  genetics,  metabolism*
Musculoskeletal Diseases / genetics,  metabolism*
Signal Transduction*
Grant Support
DE017713/DE/NIDCR NIH HHS; DE16990/DE/NIDCR NIH HHS; HD22657/HD/NICHD NIH HHS; T32GM008307/GM/NIGMS NIH HHS; //Howard Hughes Medical Institute

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