Literature DB >> 7700716

Extending the nosology of the chondrodysplasias to the cellular and molecular levels.

W A Horton1.   

Abstract

Rapid advances in molecular genetics have created and will continue to create problems in the classification of human bone dysplasias. It is proposed that the functional significance of mutations be taken into account in future nosologies for these disorders. Chondrocyte culture and transgenic mouse strategies are briefly discussed as approaches to evaluating the functional consequences of chondrodysplasia mutations on skeletel development and growth.

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Mesh：

Year:  1994        PMID： 7700716     DOI： 10.1007/bf02011906

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  11 in total

1.  Expression of the human chondrocyte phenotype in vitro.

Authors:  A L Aulthouse; M Beck; E Griffey; J Sanford; K Arden; M A Machado; W A Horton
Journal:  In Vitro Cell Dev Biol       Date:  1989-07

Review 2.  Clinical--molecular correlations in the skeletal dysplasias.

Authors:  D L Rimoin; D H Cohn; D Eyre
Journal:  Pediatr Radiol       Date:  1994

3.  Dedifferentiated chondrocytes reexpress the differentiated collagen phenotype when cultured in agarose gels.

Authors:  P D Benya; J D Shaffer
Journal:  Cell       Date:  1982-08       Impact factor: 41.582

4.  Assembly of cartilage collagen fibrils is disrupted by overexpression of normal type II collagen in transgenic mice.

Authors:  S Garofalo; M Metsäranta; J Ellard; C Smith; W Horton; E Vuorio; B de Crombrugghe
Journal:  Proc Natl Acad Sci U S A       Date:  1993-05-01       Impact factor: 11.205

5.  Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.

Authors:  W A Horton; M A Machado; J Ellard; D Campbell; J Bartley; F Ramirez; E Vitale; B Lee
Journal:  Proc Natl Acad Sci U S A       Date:  1992-05-15       Impact factor: 11.205

6.  Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)

Authors:  J Körkkö; P Ritvaniemi; L Haataja; H Kääriäinen; K I Kivirikko; D J Prockop; L Ala-Kokko
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

7.  Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis.

Authors:  T Sulisalo; P Sistonen; J Hästbacka; C Wadelius; O Mäkitie; A de la Chapelle; I Kaitila
Journal:  Nat Genet       Date:  1993-04       Impact factor: 38.330

8.  Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect.

Authors:  A Winterpacht; M Hilbert; U Schwarze; S Mundlos; J Spranger; B U Zabel
Journal:  Nat Genet       Date:  1993-04       Impact factor: 38.330

9.  Diastrophic dysplasia gene maps to the distal long arm of chromosome 5.

Authors:  J Hästbacka; I Kaitila; P Sistonen; A de la Chapelle
Journal:  Proc Natl Acad Sci U S A       Date:  1990-10       Impact factor: 11.205

10.  Chondrodysplasia in transgenic mice harboring a 15-amino acid deletion in the triple helical domain of pro alpha 1(II) collagen chain.

Authors:  M Metsäranta; S Garofalo; G Decker; M Rintala; B de Crombrugghe; E Vuorio
Journal:  J Cell Biol       Date:  1992-07       Impact factor: 10.539
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  1 in total

1.  Effect of tetramethylpyrazine on tibial dyschondroplasia incidence, tibial angiogenesis, performance and characteristics via HIF-1α/VEGF signaling pathway in chickens.

Authors:  Khalid Mehmood; Hui Zhang; Kun Li; Lei Wang; Mujeeb Ur Rehman; Fazul Nabi; Muhammad Kashif Iqbal; Houqiang Luo; Muhammad Shahzad; Jiakui Li
Journal:  Sci Rep       Date:  2018-02-06       Impact factor: 4.379
  1 in total

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