Literature DB >> 6460104

5-Fluoro-2'-deoxyuridine induction of the fragile site on Xq28 associated with X linked mental retardation.

N Tommerup, H Poulsen, K Brøndum-Nielsen.   

Abstract

5-Fluoro-2'-deoxyuridine (FUdR) was found to be highly effective in inducing the heritable fragile site on Xq28 associated with mental retardation. Lymphocytes from two affected males manifested the fragile site in 30 to 40% of the mitoses when grown in the presence of FUdR. This observation suggests that depletion of the dTMP pool via thymidylate synthetase inhibition is responsible for the expression of the heritable fragile site on Xq28.

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Year:  1981        PMID： 6460104      PMCID： PMC1048760          DOI： 10.1136/jmg.18.5.374

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


  18 in total

1.  THE MODE OF ACTION OF 5-FLUOROURACIL AND ITS DERIVATIVES.

Authors:  S S Cohen; J G Flaks; H D Barner; M R Loeb; J Lichtenstein
Journal:  Proc Natl Acad Sci U S A       Date:  1958-10-15       Impact factor: 11.205

2.  Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium.

Authors:  G R Sutherland
Journal:  Science       Date:  1977-07-15       Impact factor: 47.728

3.  Heritable fragile sites on human chromosomes I. Factors affecting expression in lymphocyte culture.

Authors:  G R Sutherland
Journal:  Am J Hum Genet       Date:  1979-03       Impact factor: 11.025

4.  Fluorinated pyrimidines. XXVI. Mammalian thymidylate synthetase: its mechanism of action and inhibition by fluorinated nucleotides.

Authors:  P Reyes; C Heidelberger
Journal:  Mol Pharmacol       Date:  1965-07       Impact factor: 4.436

5.  X-linked mental retardation with macro-orchidism and the fragile site at Xq 27 or 28.

Authors:  G R Sutherland; P L Ashforth
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

6.  Constitutional chromosomal breakage.

Authors:  F Giraud; S Ayme; J F Mattei; M G Mattei
Journal:  Hum Genet       Date:  1976-10-28       Impact factor: 4.132

7.  Marker X chromosomes and mental retardation.

Authors:  G R Sutherland
Journal:  N Engl J Med       Date:  1977-06-16       Impact factor: 91.245

8.  Familial X-linked mental retardation, verbal disability, and marker X chromosomes.

Authors:  P N Howard-Peebles; G R Stoddard; M G Mims
Journal:  Am J Hum Genet       Date:  1979-03       Impact factor: 11.025

9.  Familial X-linked mental retardation with an X chromosome abnormality.

Authors:  J Harvey; C Judge; S Wiener
Journal:  J Med Genet       Date:  1977-02       Impact factor: 6.318

10.  Expression in fibroblast culture of the satellited-X chromosome associated with familial sex-linked mental retardation.

Authors:  P B Jacky; F J Dill
Journal:  Hum Genet       Date:  1980-02       Impact factor: 4.132
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  26 in total

1.  Preferential integration of marker DNA into the chromosomal fragile site at 3p14: an approach to cloning fragile sites.

Authors:  F V Rassool; T W McKeithan; M E Neilly; E van Melle; R Espinosa; M M Le Beau
Journal:  Proc Natl Acad Sci U S A       Date:  1991-08-01       Impact factor: 11.205

2.  Linkage studies of X-linked mental retardation: high frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome).

Authors:  K E Davies; M G Mattei; J F Mattei; H Veenema; S McGlade; K Harper; N Tommerup; K B Nielsen; M Mikkelsen; P Beighton
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

3.  Thymidylate synthase polymorphism in sporadic colorectal and gastric cancer in Tunisian population: a predictive role in 5-fluorouracil based chemotherapy treatment.

Authors:  Olfa Baroudi; Thouraya Baroudi; Ines Omrane; Amel Moussa; Amel Mezlini; Hajer Ayari; Sami Guermazi; Abdesslem Bahloul; Hassen Bouzaienne; Nancy Uhrhammer; Yves Jean Bignon; Amel Benammar El-Gaaied; Karim Bougatef
Journal:  Med Oncol       Date:  2014-01-11       Impact factor: 3.064

4.  Fragile X syndrome: clinical, cytogenetic, biochemical and molecular features.

Authors:  J C Mixon; V G Dev
Journal:  Indian J Pediatr       Date:  1986 Jul-Aug       Impact factor: 1.967

5.  Twelve families with fragile X(q27).

Authors:  T Webb; A Thake; J Todd
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

6.  Induction of the fragile X on BrdU-substituted chromosomes with direct visualization of sister chromatid exchanges on banded chromosomes.

Authors:  N Tommerup
Journal:  Hum Genet       Date:  1989-03       Impact factor: 4.132

7.  Human chromosome hot points. 1. Hot point at 3p14 in three populations.

Authors:  X T Zhou; B H Xu; C L Chu; G F Xia; N Li; R Sha
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

8.  DNA polymerase alpha inhibition by aphidicolin induces gaps and breaks at common fragile sites in human chromosomes.

Authors:  T W Glover; C Berger; J Coyle; B Echo
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

9.  Cytogenetic investigations in mentally retarded and normal males from 14 families with the fragile site at Xq28. Results of folic acid treatment on fra(X) expression.

Authors:  K B Nielsen; N Tommerup
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

10.  Intracellular folate distribution in cultured fibroblasts from patients with the fragile X syndrome.

Authors:  B W Popovich; D S Rosenblatt; B A Cooper; M Vekemans
Journal:  Am J Hum Genet       Date:  1983-09       Impact factor: 11.025
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