Literature DB >> 565336

Reliable detection of cystic fibrosis in skin-derived fibroblast cultures.

P Hösli, E Vogt.   

Abstract

The specific induction of alkaline phosphatase with Tamm-Horsfall glycoprotein, isoproterenol, and theophylline in skin-derived fibroblast cultures from patients with cystic fibrosis permits one to reliably discriminate between cystic fibrosis patients on the one hand, and heterozygotes and normals on the other. It was found the fibroblast-like and intermediary types of amniotic fluid-derived cells behave essentially like skin-derived fibroblasts. These findings imply that if different amniotic fluid cell types can be reliably separated, prenatal diagnosis of cystic fibrosis should become feasable in the near future.

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Year:  1978        PMID: 565336     DOI: 10.1007/bf00273098

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  5 in total

1.  Quantitative assays of enzyme activity in single cells: early prenatal diagnosis of genetic disorders.

Authors:  P Hösli
Journal:  Clin Chem       Date:  1977-08       Impact factor: 8.327

2.  Prospects for prenatal diagnosis of cystic fibrosis: induction of biochemical abnormalities in fibroblasts from patients with cystic fibrosis by a urinary glycoprotein.

Authors:  P Hösli; R P Erickson; E Vogt
Journal:  Biochem Biophys Res Commun       Date:  1976-11-22       Impact factor: 3.575

3.  Simple ultra-microtechniques for genetic complementation analysis and early prenatal diagnosis of sphingolipidoses.

Authors:  P Hösli
Journal:  Adv Exp Med Biol       Date:  1976       Impact factor: 2.622

Review 4.  Research in cystic fibrosis (first of three parts).

Authors:  P A Di Sant'Agnese; P B Davis
Journal:  N Engl J Med       Date:  1976-08-26       Impact factor: 91.245

5.  Correction of leukocyte function in Chediak-Higashi syndrome by ascorbate.

Authors:  L A Boxer; A M Watanabe; M Rister; H R Besch; J Allen; R L Baehner
Journal:  N Engl J Med       Date:  1976-11-04       Impact factor: 91.245

  5 in total
  1 in total

1.  Alkaline phosphatase activity of normal and cystic fibrosis fibroblasts.

Authors:  D A Aitken; A Hoogeveen
Journal:  J Med Genet       Date:  1980-06       Impact factor: 6.318

  1 in total

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