Literature DB >> 2816990

Tissue and cell studies of the growth plate in the chondrodysplasias.

W A Horton1, D Campbell, M A Machado, A L Aulthouse, S Ahmed, J T Ellard.   

Abstract

As the morphologic expression of the chondrocytic differentiation pathway responsible for bone development and growth, the growth plate has been investigated extensively in the chondrodysplasias. Unique morphologic abnormalities identified in many disorders have provided insight into pathogenetic mechanisms and have been useful diagnostically and nosologically. Biochemical studies have detected evidence of type II collagen defects in patients having disorders in the achondrogenesis type II-spondyloepiphyseal dysplasias (SED) congenita family of chondrodysplasias. Most promising may be the cell culture systems now being developed for human chondrocytes. Preliminary results suggest that they will allow the cellular and molecular biology of the dysplastic growth plate to be directly analyzed.

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Year:  1989        PMID: 2816990     DOI: 10.1002/ajmg.1320340116

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

1.  A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy.

Authors:  C G Bönnemann; G F Cox; F Shapiro; J J Wu; C A Feener; T G Thompson; D C Anthony; D R Eyre; B T Darras; L M Kunkel
Journal:  Proc Natl Acad Sci U S A       Date:  2000-02-01       Impact factor: 11.205

  1 in total

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