Literature DB >> 3543367

Genetic disorders of collagen.

P Tsipouras, F Ramirez.   

Abstract

Osteogenesis imperfecta, Ehlers-Danlos syndrome, and Marfan syndrome form a group of genetic disorders of connective tissue. These disorders exhibit remarkable clinical heterogeneity which reflects their underlying biochemical and molecular differences. Defects in collagen types I and III have been found in all three syndromes.

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Year:  1987        PMID： 3543367      PMCID： PMC1049849          DOI： 10.1136/jmg.24.1.2

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


  40 in total

Review 1.  Heritable diseases of collagen.

Authors:  D J Prockop; K I Kivirikko
Journal:  N Engl J Med       Date:  1984-08-09       Impact factor: 91.245

2.  Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity.

Authors:  D O Sillence; K K Barlow; A P Garber; J G Hall; D L Rimoin
Journal:  Am J Med Genet       Date:  1984-02

3.  The molecular defect in a nonlethal variant of osteogenesis imperfecta. Synthesis of pro-alpha 2(I) chains which are not incorporated into trimers of type I procollagen.

Authors:  S B Deak; A Nicholls; F M Pope; D J Prockop
Journal:  J Biol Chem       Date:  1983-12-25       Impact factor: 5.157

4.  Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen.

Authors:  G S Barsh; K E David; P H Byers
Journal:  Proc Natl Acad Sci U S A       Date:  1982-06       Impact factor: 11.205

Review 5.  Genetic disorders of collagen metabolism.

Authors:  D W Hollister; P H Byers; K A Holbrook
Journal:  Adv Hum Genet       Date:  1982

6.  Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta.

Authors:  J F Bateman; T Mascara; D Chan; W G Cole
Journal:  Biochem J       Date:  1984-01-01       Impact factor: 3.857

7.  Use of molecular haplotypes specific for the human pro alpha 2(I) collagen gene in linkage analysis of the mild autosomal dominant forms of osteogenesis imperfecta.

Authors:  C T Falk; R C Schwartz; F Ramirez; P Tsipouras
Journal:  Am J Hum Genet       Date:  1986-03       Impact factor: 11.025

8.  Marfan syndrome. Demonstration of abnormal elastin in aorta.

Authors:  P A Abraham; A J Perejda; W H Carnes; J Uitto
Journal:  J Clin Invest       Date:  1982-12       Impact factor: 14.808

9.  Patients with Ehlers-Danlos syndrome type IV lack type III collagen.

Authors:  F M Pope; G R Martin; J R Lichtenstein; R Penttinen; B Gerson; D W Rowe; V A McKusick
Journal:  Proc Natl Acad Sci U S A       Date:  1975-04       Impact factor: 11.205

10.  Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.

Authors:  B Steinmann; L Tuderman; L Peltonen; G R Martin; V A McKusick; D J Prockop
Journal:  J Biol Chem       Date:  1980-09-25       Impact factor: 5.157
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  7 in total

1.  Osteogenesis imperfecta with bleeding diathesis.

Authors:  Rakesh K Mondal; Umang Mann; Mamta Sharma
Journal:  Indian J Pediatr       Date:  2003-01       Impact factor: 1.967

2.  Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen.

Authors:  D Weil; M G Mattei; E Passage; V C N'Guyen; D Pribula-Conway; K Mann; R Deutzmann; R Timpl; M L Chu
Journal:  Am J Hum Genet       Date:  1988-03       Impact factor: 11.025

3.  Average locus differences in mutability related to protein "class": a hypothesis.

Authors:  J V Neel
Journal:  Proc Natl Acad Sci U S A       Date:  1990-03       Impact factor: 11.205

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.  Marfan syndrome: absence of type I or III collagen structural defects in 25 patients.

Authors:  V R Harley; D Chan; J G Rogers; W G Cole
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

6.  Genetic evidence that mutations in the COL1A1, COL1A2, COL3A1, or COL5A2 collagen genes are not responsible for mitral valve prolapse.

Authors:  A M Henney; P Tsipouras; R C Schwartz; A H Child; R B Devereux; G J Leech
Journal:  Br Heart J       Date:  1989-03

7.  A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII.

Authors:  D Weil; M D'Alessio; F Ramirez; W de Wet; W G Cole; D Chan; J F Bateman
Journal:  EMBO J       Date:  1989-06       Impact factor: 11.598
  7 in total

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