Literature DB >> 6930359

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

C Junien, H Rubinson-Skala, J C Dreyfus, N Ravise, J Boué, A Boué, J C Kaplan.   

Abstract

Gene dosage studies yielded results consistent with the assignment of the locus for pyruvate kinase (PK3) to chromosome 15. The activity of seven cytoplasmic enzymes has been determined in fibroblast extracts from six trisomy 15 lines and 16 normal control lines. The fibroblast extracts from the trisomic patients had pyruvate kinase activity 57% higher than fibroblast extracts from control lines, while other enzyme activities were within the normal range of activity.

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Year:  1980        PMID： 6930359     DOI： 10.1007/bf00278970

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


  32 in total

1.  Dosage effect of SOD-A gene in 21-trisomic cells.

Authors:  N Crosti; A Serra; A Rigo; P Viglino
Journal:  Hum Genet       Date:  1976-02-29       Impact factor: 4.132

2.  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

3.  Confirmation of regional assignment of nucleoside phosphorylase to band 14q13 by gene-dosage studies.

Authors:  B Dallapiccola; M Magnani; M Dachà; P L Giorgi
Journal:  Hum Genet       Date:  1979-09       Impact factor: 4.132

4.  Gene dose effect: regional mapping of human glutathione reductase on chromosome 8.

Authors:  D L George; U Francke
Journal:  Cytogenet Cell Genet       Date:  1976

5.  Gene dosage effect in human triploid fibroblasts.

Authors:  C Junien; H Rubinson; J C Dreyfus; M C Meinenhofer; N Ravise; J Boué; A Boué
Journal:  Hum Genet       Date:  1976-07-07       Impact factor: 4.132

6.  Assignment by deletion of human red cell acid phosphatase gene locus to the short arm of chromosome 2.

Authors:  M A Ferguson-Smith; B F Newman; P M Ellis; D M Thomson; I D Riley
Journal:  Nat New Biol       Date:  1973-06-27

7.  [Possible localization of the glutathione reductase (EC 1.6.4.2) on the 8p21 band].

Authors:  P M Sinet; J L Bresson; J Couturier; C Laurent; M Prieur; M O Rethoré; J L Taillemite; D Toudic; H Jérome; J Lejeune
Journal:  Ann Genet       Date:  1977-03

8.  Investigation of the intrachromosomal position of the ADA locus on chromosome 20 by gene dosage studies.

Authors:  D A Aitken; M A Ferguson-Smith
Journal:  Cytogenet Cell Genet       Date:  1978

9.  Mapping of the gene for glutathione reductase on chromosome 8.

Authors:  A de la Chapelle; A Icen; P Aula; J Leisti; C Turleau; J de Grouchy
Journal:  Ann Genet       Date:  1976-12

10.  Gene dosage effect for fumarate hydratase (FH; E.C. 4.2.1.2) in partial trisomy 1.

Authors:  R Braunger; H Kling; W Krone; M Schmid; J Olert
Journal:  Hum Genet       Date:  1977-08-31       Impact factor: 4.132
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  3 in total

1.  Duplication 15q22 to 15qter and its phenotypic expression.

Authors:  M J Gregoire; J Boue; C Junien; C Pernot; S Gilgenkrantz; L Zergollern
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

2.  Direct gene dosage determination in patients with unbalanced chromosomal aberrations using cloned DNA sequences. Application to the regional assignment of the gene for alpha 2(I) procollagen (COLIA2).

Authors:  C Junien; C Huerre; M O Rethoré
Journal:  Am J Hum Genet       Date:  1983-07       Impact factor: 11.025

3.  Triplex gene dosage effect of beta-glucuronidase and possible assignment to band q22 in a partial duplication 7q.

Authors:  C Danesino; G Gimelli; C Cuoco; M O Ciccone
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132
  3 in total

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