Literature DB >> 7389735

The mild form of pseudoachondroplasia. Identity of the morphological and biochemical alterations of growth cartilage with those of typical pseudoachondroplasia.

P Maroteaux, R Stanescu, V Stanescu, G Fontaine.   

Abstract

A 9-year-old boy from an incestuous union presented with mild clinical and roentgenological manifestations of pseudoachondroplasia. Tibial growth cartilage was obtained during a routine orthopedic procedure. Microscopic, histochemical and biochemical analysis showed changes identical to those of 6 sporadic cases of typical pseudoachondroplasia. The results support a concept of pathogenetic homogeneity of pseudoachondroplasia.

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Year:  1980        PMID： 7389735     DOI： 10.1007/bf00496081

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  12 in total

1.  Pseudoachondroplasia.

Authors:  J G Hall
Journal:  Birth Defects Orig Artic Ser       Date:  1975

2.  Characterization of chick bone collagen and compositional changes associated with maturation.

Authors:  E J Miller; G R Martin; K A Piez; M J Powers
Journal:  J Biol Chem       Date:  1967-12-10       Impact factor: 5.157

3.  Pseudoachondroplastic dysplasia: five cases representing clinical, roentgenographic and histologic heterogeneity.

Authors:  R E Cranley; B R Williams; S E Kopits; J P Dorst
Journal:  Birth Defects Orig Artic Ser       Date:  1975

4.  Structural studies on cartilage collagen employing limited cleavage and solubilization with pepsin.

Authors:  E J Miller
Journal:  Biochemistry       Date:  1972-12-19       Impact factor: 3.162

5.  Proteinpolysaccharide complex from bovine nasal cartilage. A comparison of low and high shear extraction procedures.

Authors:  S W Sajdera; V C Hascall
Journal:  J Biol Chem       Date:  1969-01-10       Impact factor: 5.157

6.  [Abnormalities of proteoglycans in growth cartilage in pseudo-achondroplasia].

Authors:  V Stanescu; P Maroteaux
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1973-12-05

7.  Gel electrophoresis of proteoglycans and glycosaminoglycans on large-pore composite polyacrylamide-agarose gels.

Authors:  C A McDevitt; H Muir
Journal:  Anal Biochem       Date:  1971-12       Impact factor: 3.365

8.  [Morphological and biochemical study of growth cartilage in osteochondrodysplasias].

Authors:  V Stanescu; R Stanescu; P Maroteaux
Journal:  Arch Fr Pediatr       Date:  1977-03

9.  [Study by gel electrophoresis, of alpha chains and of CNBr peptides of collagen from epiphyseal cartilage in chondrodysplasia].

Authors:  V Stanescu; P Maroteaux; R Stanescu
Journal:  Ann Genet       Date:  1976-06

10.  Gel electrophoretic studies on proteoglycans and collagen of abnormal human growth cartilage: proteoglycan abnormalities in pseudoachondroplasia and in Kniest's disease.

Authors:  V Stanescu; P Maroteaux
Journal:  Pediatr Res       Date:  1975-10       Impact factor: 3.756
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  6 in total

1.  Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.

Authors:  M D Briggs; G R Mortier; W G Cole; L M King; S S Golik; J Bonaventure; L Nuytinck; A De Paepe; J G Leroy; L Biesecker; M Lipson; W R Wilcox; R S Lachman; D L Rimoin; R G Knowlton; D H Cohn
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025

2.  COL9A3: A third locus for multiple epiphyseal dysplasia.

Authors:  P Paassilta; J Lohiniva; S Annunen; J Bonaventure; M Le Merrer; L Pai; L Ala-Kokko
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

3.  Pseudoachondroplasia: clinical diagnosis at different ages and comparison of autosomal dominant and recessive types. A review of 32 patients (26 kindreds).

Authors:  R Wynne-Davies; C M Hall; I D Young
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

4.  Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene.

Authors:  M D Briggs; H Choi; M L Warman; J A Loughlin; P Wordsworth; B C Sykes; C M Irven; M Smith; R Wynne-Davies; M H Lipson
Journal:  Am J Hum Genet       Date:  1994-10       Impact factor: 11.025

5.  A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia.

Authors:  Farhana Suleman; Benedetta Gualeni; Hannah J Gregson; Matthew P Leighton; Katarzyna A Piróg; Sarah Edwards; Paul Holden; Raymond P Boot-Handford; Michael D Briggs
Journal:  Hum Mutat       Date:  2011-11-17       Impact factor: 4.878

6.  A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia.

Authors:  Bing-Bing Guo; Jie-Yuan Jin; Zhuang-Zhuang Yuan; Lei Zeng; Rong Xiang
Journal:  Biomed Res Int       Date:  2021-03-08       Impact factor: 3.411
  6 in total

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