Literature DB >> 5248811

Single-allele expression at an X-linked hyperuricemia locus in heterozygous human cells.

J Salzmann, R DeMars, P Benke.   

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Year:  1968        PMID: 5248811      PMCID: PMC225082          DOI: 10.1073/pnas.60.2.545

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN: 0027-8424            Impact factor:   11.205


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  14 in total

1.  Mammalian X-chromosome action: inactivation limited in spread and region of origin.

Authors:  L B RUSSELL
Journal:  Science       Date:  1963-05-31       Impact factor: 47.728

2.  A specific enzyme defect in gout associated with overproduction of uric acid.

Authors:  W N Kelley; F M Rosenbloom; J F Henderson; J E Seegmiller
Journal:  Proc Natl Acad Sci U S A       Date:  1967-06       Impact factor: 11.205

Review 3.  The single-active-X: functional differentiation at the chromosome level.

Authors:  R DeMars
Journal:  Natl Cancer Inst Monogr       Date:  1967-09

Review 4.  Sex-linked genes in man and Lyon hypothesis.

Authors:  H Grüneberg
Journal:  Ann Hum Genet       Date:  1967-01       Impact factor: 1.670

Review 5.  The significance of the sex chromatin.

Authors:  M L Barr
Journal:  Int Rev Cytol       Date:  1966

6.  A tetrazolium method for distinguishing between cultured human fibroblasts having eiter normal or deficient levels of glucose-6-phosphate dehydrogenase.

Authors:  A Wajntal; R DeMars
Journal:  Biochem Genet       Date:  1967-06       Impact factor: 1.890

7.  X-linked recessive inheritance of a syndrome of mental retardation with hyperuricemia.

Authors:  S L Shapiro; G L Sheppard; F E Dreifuss; D S Newcombe
Journal:  Proc Soc Exp Biol Med       Date:  1966-06

8.  Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.

Authors:  J E Seegmiller; F M Rosenbloom; W N Kelley
Journal:  Science       Date:  1967-03-31       Impact factor: 47.728

9.  Gene action in the X-chromosome of the mouse (Mus musculus L.).

Authors:  M F LYON
Journal:  Nature       Date:  1961-04-22       Impact factor: 49.962

10.  Hurler's syndrome: a genetic study of clones in cell culture with particular reference to the Lyon hypothesis.

Authors:  B S Danes; A G Bearn
Journal:  J Exp Med       Date:  1967-09-01       Impact factor: 14.307

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  34 in total

1.  Half chromatid mutations: transmission in humans?

Authors:  S M Gartler; U Francke
Journal:  Am J Hum Genet       Date:  1975-03       Impact factor: 11.025

2.  Hair root versus red cell individual phenotype in Sardinian heterozygotes for G6PD deficiency (Mediterranean type).

Authors:  G Romeo; A Rinaldi; F Urbano; G Filippi
Journal:  Am J Hum Genet       Date:  1976-09       Impact factor: 11.025

3.  Transfer of cloned human class I major histocompatibility complex genes into HLA mutant human lymphoblastoid cells.

Authors:  Y Shimizu; B Koller; D Geraghty; H Orr; S Shaw; P Kavathas; R DeMars
Journal:  Mol Cell Biol       Date:  1986-04       Impact factor: 4.272

4.  Lesch-Nyhan syndrome: absence of the mutant enzyme in erythrocytes of a heterozygote for both normal and mutant hypoxanthine-guanine phosphoribosyl transferase.

Authors:  J A McDonald; W N Kelley
Journal:  Biochem Genet       Date:  1972-02       Impact factor: 1.890

5.  Electrophoretic properties of hypoxanthine-guanine phosphoribosyl transferase in erythrocytes of subjects with Lesch-Nyhan syndrome.

Authors:  B Bakay; W L Nyhan
Journal:  Biochem Genet       Date:  1972-04       Impact factor: 1.890

6.  Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan mutation.

Authors:  R J Albertini; R DeMars
Journal:  Biochem Genet       Date:  1974-05       Impact factor: 1.890

7.  Linkage relationships of X-linked enzymes glucose-6-phosphate dehydrogenase and hypoxanthine guanine phosphoribosyltransferase: recombination in female offspring of compound heterozygotes.

Authors:  U Francke; B Bakay; J D Connor; J G Coldwell; W L Nyhan
Journal:  Am J Hum Genet       Date:  1974-07       Impact factor: 11.025

8.  Activation of variants of hypoxanthine-guanine phosphoribosyl transferase by the normal enzyme.

Authors:  B Bakay; W L Nyhan
Journal:  Proc Natl Acad Sci U S A       Date:  1972-09       Impact factor: 11.205

9.  Purine metabolism in normal and thioguanine-resistant neuroblastoma.

Authors:  A W Wood; M A Becker; J D Minna; J E Seegmiller
Journal:  Proc Natl Acad Sci U S A       Date:  1973-12       Impact factor: 11.205

Review 10.  Hypoxanthine-guanine phosphoribosyl transferase deficiency.

Authors:  C H de Bruyn
Journal:  Hum Genet       Date:  1976-02-29       Impact factor: 4.132

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