Literature DB >> 3005580

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

D Ogilvie, P Wordsworth, E Thompson, B Sykes.   

Abstract

The structure of the locus encoding the major cartilage collagen gene (COL2A1) was studied in a total of 19 cases of achondroplasia. No gross rearrangements were seen. The segregation of COL2A1 was examined in three affected kindreds using restriction site and length variants as genetic markers. In two kindreds discordant segregation between the achondroplasia and COL2A1 loci was demonstrated. Paternity/maternity was confirmed using a 'minisatellite' core sequence probe which reveals cross hybridising polymorphic loci.

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Year:  1986        PMID： 3005580      PMCID： PMC1049535          DOI： 10.1136/jmg.23.1.19

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  11 in total

1.  Biochemical analysis of epiphyseal cartilage during growth and in some osteochondrodysplasias.

Authors:  J Svejcar
Journal:  Birth Defects Orig Artic Ser       Date:  1975

2.  Exclusion of the alpha 1(II) cartilage collagen gene as the mutant locus in type IA osteogenesis imperfecta.

Authors:  B Sykes; R Smith; S Vipond; C Paterson; K Cheah; E Solomon
Journal:  J Med Genet       Date:  1985-06       Impact factor: 6.318

3.  Hypervariable 'minisatellite' regions in human DNA.

Authors:  A J Jeffreys; V Wilson; S L Thein
Journal:  Nature       Date:  1985 Mar 7-13       Impact factor: 49.962

4.  Identification and characterization of the human type II collagen gene (COL2A1).

Authors:  K S Cheah; N G Stoker; J R Griffin; F G Grosveld; E Solomon
Journal:  Proc Natl Acad Sci U S A       Date:  1985-05       Impact factor: 11.205

5.  A new estimate of the achondroplasia mutation rate.

Authors:  R J Gardner
Journal:  Clin Genet       Date:  1977-01       Impact factor: 4.438

6.  Isolation and characterization of a human collagen alpha 1(I)-like gene from a cosmid library.

Authors:  E H Weiss; K S Cheah; F G Grosveld; H H Dahl; E Solomon; R A Flavell
Journal:  Nucleic Acids Res       Date:  1982-03-25       Impact factor: 16.971

7.  Lethal osteogenesis imperfecta and a collagen gene deletion. Length polymorphism provides an alternative explanation.

Authors:  B C Sykes; D J Ogilvie; B P Wordsworth
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

8.  Lethal osteogenesis imperfecta and a gene deletion.

Authors:  B Sykes; D Ogilvie
Journal:  Br Med J (Clin Res Ed)       Date:  1984-05-05

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.  Normal somatomedin and somatomedin receptors in achondroplastic dwarfism.

Authors:  R G Rosenfeld; R L Hintz
Journal:  Horm Metab Res       Date:  1980-02       Impact factor: 2.936
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  10 in total

1.  Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita.

Authors:  I D Young; N R Ruggins; J M Somers; J M Zuccollo; N Rutter
Journal:  J Med Genet       Date:  1992-11       Impact factor: 6.318

Review 2.  Molecular heterogeneity in chondrodysplasias.

Authors:  P H Byers
Journal:  Am J Hum Genet       Date:  1989-07       Impact factor: 11.025

3.  Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias.

Authors:  P Wordsworth; D Ogilvie; L Priestley; R Smith; R Wynne-Davies; B Sykes
Journal:  J Med Genet       Date:  1988-08       Impact factor: 6.318

Review 4.  Prenatal diagnosis and prevention of inherited abnormalities of collagen.

Authors:  F M Pope; S C Daw; P Narcisi; A R Richards; A C Nicholls
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

5.  The absence of type II collagen and changes in proteoglycan structure of hyaline cartilage in a case of Langer-Saldino achondrogenesis.

Authors:  S P Feshchenko; I A Rebrin; V P Sokolnik; B M Sher; B P Sokolov; V N Kalinin; G I Lazjuk
Journal:  Hum Genet       Date:  1989-04       Impact factor: 4.132

6.  The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17.

Authors:  S M Pulst; J M Graham; P Fain; D Barker; T Pribyl; J R Korenberg
Journal:  Hum Genet       Date:  1990-06       Impact factor: 4.132

7.  SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia.

Authors:  W A Sweetman; B Rash; B Sykes; P Beighton; J T Hecht; B Zabel; J T Thomas; R Boot-Handford; M E Grant; G A Wallis
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025

8.  Exclusion of the cartilage link protein and the cartilage matrix protein genes as the mutant loci in several heritable chondrodysplasias.

Authors:  J Loughlin; C Irven; B Sykes
Journal:  Hum Genet       Date:  1994-12       Impact factor: 4.132

9.  Integrin β1, PDGFRβ, and type II collagen are essential for meniscus regeneration by synovial mesenchymal stem cells in rats.

Authors:  Tsukasa Kitahashi; Ryo Kogawa; Kentaro Nakamura; Ichiro Sekiya
Journal:  Sci Rep       Date:  2022-08-19       Impact factor: 4.996

10.  Achondroplasia associated with bilateral keratoconus.

Authors:  Ammar M Al Mahmood; Hind M Al Katan; Ghada Y Al Bin Ali; Samar A Al-Swailem
Journal:  Case Rep Ophthalmol Med       Date:  2012-12-04
  10 in total

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