Literature DB >> 2662765

Molecular heterogeneity in chondrodysplasias.

P H Byers1.   

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Year:  1989        PMID： 2662765      PMCID： PMC1683380     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  25 in total

1.  Chondrocytes from the cartilage proteoglycan-deficient mutant, nanomelia, synthesize greatly reduced levels of the proteoglycan core protein transcript.

Authors:  N S Stirpe; W S Argraves; P F Goetinck
Journal:  Dev Biol       Date:  1987-11       Impact factor: 3.582

Review 2.  The chondrodystrophies.

Authors:  D L Rimoin
Journal:  Adv Hum Genet       Date:  1975

3.  Absence of proteoglycan core protein in the cartilage mutant nanomelia.

Authors:  W S Argraves; P J McKeown-Longo; P F Goetinck
Journal:  FEBS Lett       Date:  1981-08-31       Impact factor: 4.124

4.  Independent regulation of collagen types by chondrocytes during the loss of differentiated function in culture.

Authors:  P D Benya; S R Padilla; M E Nimni
Journal:  Cell       Date:  1978-12       Impact factor: 41.582

5.  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

6.  Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia.

Authors:  D Ogilvie; P Wordsworth; E Thompson; B Sykes
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318

7.  Absence of proteoglycan core protein in cartilage from the cmd/cmd (cartilage matrix deficiency) mouse.

Authors:  K Kimata; H J Barrach; K S Brown; J P Pennypacker
Journal:  J Biol Chem       Date:  1981-07-10       Impact factor: 5.157

8.  Morphologic studies in the skeletal dysplasias.

Authors:  D O Sillence; W A Horton; D L Rimoin
Journal:  Am J Pathol       Date:  1979-09       Impact factor: 4.307

9.  Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias.

Authors:  L W Murray; J Bautista; P L James; D L Rimoin
Journal:  Am J Hum Genet       Date:  1989-07       Impact factor: 11.025

10.  Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis.

Authors:  D R Eyre; M P Upton; F D Shapiro; R H Wilkinson; G F Vawter
Journal:  Am J Hum Genet       Date:  1986-07       Impact factor: 11.025
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  3 in total

Review 1.  Cartilage collagens: strategies for the study of their organisation and expression in the extracellular matrix.

Authors:  J T Thomas; S Ayad; M E Grant
Journal:  Ann Rheum Dis       Date:  1994-08       Impact factor: 19.103

2.  X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28.

Authors:  J P Fryns; A Spaepen; J J Cassiman; H van den Berghe
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

3.  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
  3 in total

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