Literature DB >> 939558

Gene dosage effect in human triploid fibroblasts.

C Junien, H Rubinson, J C Dreyfus, M C Meinenhofer, N Ravise, J Boué, A Boué.   

Abstract

The activity of 13 cytoplasmic enzymes has been determined in fibroblast extracts from 9 triploid and 13 control lines. The results show a high activity for 2 X-linked enzymes, glucose 6-phosphate dehydrogenase and phosphoglycerate kinase. These data, together with cytogenetic observations, support the contention that 2 X chromosomes were active in the triploid lines.

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Year:  1976        PMID： 939558     DOI： 10.1007/bf00447287

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


  8 in total

1.  In vitro cultivation of cells from aneuploid human embryos. Initiation of cell lines and longevity of the cultures.

Authors:  A Boué; J Boué; S Cure; C Deluchat; N Perraudin
Journal:  In Vitro       Date:  1975 Nov-Dec

2.  Gene dosage effect in human trisomy 16.

Authors:  B Marimo; F Giannelli
Journal:  Nature       Date:  1975-07-17       Impact factor: 49.962

3.  Evidence for two active X chromosomes in a human XXY triploid.

Authors:  D D Weaver; S M Gartler
Journal:  Humangenetik       Date:  1975-05-26

4.  LEUCOCYTE ENZYMES IN DOWN'S SYNDROME.

Authors:  W J MELLMAN; F A OSKI; T A TEDESCO; A MACIERA-COELHO; H HARRIS
Journal:  Lancet       Date:  1964-09-26       Impact factor: 79.321

5.  Localization of the human lactate dehydrogenase B gene on the short arm of chromosome 12.

Authors:  K Mayeda; L Weiss; R Lindahl; M Dully
Journal:  Am J Hum Genet       Date:  1974-01       Impact factor: 11.025

6.  [Increase of erythrocyte superoxide dismutase activity in trisomy for chromosome 21].

Authors:  P M Sinet; D Allard; J Lejeune; H Jérôme
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1974-06-17

7.  [Increase of the LDH-B activity in a boy with 12p trisomy by malsegregation of a maternal translocation t(12;14) (q12;p11)].

Authors:  M O Rethoré; J C Kaplan; C Junien; J Cruveiller; B Dutrillaux; A Aurias; S Carpentier; J Lafourcade
Journal:  Ann Genet       Date:  1975-06

8.  Comparative studies of the isozymes of lactic dehydrogenase in rabbit and man. Observations during development and in tissue culture.

Authors:  E S VESELL; J PHILIP; A G BEARN
Journal:  J Exp Med       Date:  1962-11-01       Impact factor: 14.307
  8 in total
  5 in total

1.  Human triploid embryo: cytogenetic and anatomopathologic study.

Authors:  J del Mazo; M A Martínez González; J A Abrisqueta
Journal:  Hum Genet       Date:  1977-11-10       Impact factor: 4.132

2.  Cytogenetic and biochemical investigations on fibroblast cultures and clones with one and two active X chromosomes of a 69,XXY triploidy.

Authors:  W Vogel; T Trautmann; H Hörler; S Pentz
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

3.  PK3: a new chromosome enzyme marker for gene dosage studies in chromosome 15 imbalance.

Authors:  C Junien; H Rubinson-Skala; J C Dreyfus; N Ravise; J Boué; A Boué; J C Kaplan
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

4.  Late replicating X chromosomes in human triploidy.

Authors:  P A Jacobs; A M Matsuyama; I M Buchanan; C Wilson
Journal:  Am J Hum Genet       Date:  1979-07       Impact factor: 11.025

5.  12pter to 12p12.2: possible assignment of human triose phosphate isomerase.

Authors:  M O Rethoré; J C Kaplan; C Junien; J Lejeune
Journal:  Hum Genet       Date:  1977-04-15       Impact factor: 4.132
  5 in total

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