Literature DB >> 984046

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

G Romeo, A Rinaldi, F Urbano, G Filippi.   

Abstract

G6PD activity was assayed in 20 Sardinian heterozygotes for G6PD deficiency and related to that of LDH and MDH. One of these heterozygotes showed a deficient phenotype in all her follicles, while the remaining 19 had different proportions of deficient, intermediate, and normal follicles. This is in accordance with a previous estimate. Because of the broad fiducial limits at the 5% level and because of some developmental considerations, this value cannot be interpreted as indicative of the number of primordial cells for scalp epidermis at the time of X-chromosome inactivation, as previously stated. The assay of single hair follicles is, however, a very valuable tool for establishing the role of cell selection in the same or in a different tissue, like peripheral blood.

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Year:  1976        PMID: 984046      PMCID: PMC1685099     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


  15 in total

1.  Variability of red cell phenotypes between and within individuals in an unbiased sample of 77 heterozygotes for G6PD deficiency in Sardinia.

Authors:  A Rinaldi; G Filippi; M Siniscalco
Journal:  Am J Hum Genet       Date:  1976-09       Impact factor: 11.025

2.  Sex differences in activity of glucose 6-phosphate dehydrogenase from cultured human fetal lung cells despite X-inactivation.

Authors:  M W Steele; B R Migeon
Journal:  Biochem Genet       Date:  1973-06       Impact factor: 1.890

3.  Primordial cell pool size and lineage relationships of five human cell types.

Authors:  P J Fialkow
Journal:  Ann Hum Genet       Date:  1973-07       Impact factor: 1.670

4.  Glucose-6 phosphate dehydrogenase mosaicism: utilization as a tracer in the study of the development of hair root cells.

Authors:  S M Gartler; E Gandini; G Angioni; N Argiolas
Journal:  Ann Hum Genet       Date:  1969-10       Impact factor: 1.670

5.  Cytological and biochemical correlation of late X-chromosome replication and gene inactivation in the mule.

Authors:  M M Cohen; M C Rattazzi
Journal:  Proc Natl Acad Sci U S A       Date:  1971-03       Impact factor: 11.205

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

Authors:  J Salzmann; R DeMars; P Benke
Journal:  Proc Natl Acad Sci U S A       Date:  1968-06       Impact factor: 11.205

7.  Developmental implications of multiple tissue studies in glucose-6-phosphate dehydrogenase-deficient heterozygotes.

Authors:  E Gandini; S M Gartler; G Angioni; N Argiolas; G Dell'Acqua
Journal:  Proc Natl Acad Sci U S A       Date:  1968-11       Impact factor: 11.205

8.  Mosaicism for sulfoiduronate sulfatase deficiency in carriers of Hunter's syndrome.

Authors:  M R Capobianchi; G Romeo
Journal:  Experientia       Date:  1976-04-15

9.  X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.

Authors:  B R Migeon; V M Der Kaloustian; W L Nyhan; W J Yough; B Childs
Journal:  Science       Date:  1968-04-26       Impact factor: 47.728

10.  Human phosphoglycerate kinase and inactivation of the X chromosome.

Authors:  B F Deys; K H Grzeschick; A Grzeschick; E R Jaffé; M Siniscalco
Journal:  Science       Date:  1972-03-03       Impact factor: 47.728

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  8 in total

1.  Partial lyonisation of steroid sulphatase gene in single hair roots.

Authors:  P J Willems; H W de Bruijn; A Groenhuis; B R Mooyaart; R Berger
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

2.  Variability of red cell phenotypes between and within individuals in an unbiased sample of 77 heterozygotes for G6PD deficiency in Sardinia.

Authors:  A Rinaldi; G Filippi; M Siniscalco
Journal:  Am J Hum Genet       Date:  1976-09       Impact factor: 11.025

3.  On the incidence of unilateral and bilateral colour blindness in heterozygous females.

Authors:  K Feig; H H Ropers
Journal:  Hum Genet       Date:  1978-04-24       Impact factor: 4.132

4.  Determination of arylsulfatase C in hair follicles.

Authors:  J C Meyer; H P Grundmann; U W Schnyder
Journal:  Arch Dermatol Res       Date:  1979-08       Impact factor: 3.017

5.  Distribution of G6PD phenotypes in red blood cells of Southern African Negroids: evidence for somatic selection.

Authors:  H H Ropers; H W Hitzeroth; H Hameister; G Wolff; J M Geerthsen
Journal:  Hum Genet       Date:  1978-06-09       Impact factor: 4.132

6.  Protein biosynthesis in cultured human hair follicle cells.

Authors:  P J Weterings; A J Vermorken; H Bloemendal
Journal:  Mol Biol Rep       Date:  1980-10-31       Impact factor: 2.316

7.  A cell surface abnormality in Duchenne muscular dystrophy: intercellular adhesiveness of skin fibroblasts from patients and carriers.

Authors:  G E Jones; J A Witkowski
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

8.  Population screening for glucose-6-phosphate dehydrogenase deficiency on the Baleares.

Authors:  A Miguel; M Ramon; E Petitpierre; C M Goos; A M Vermeesch-Markslag; A J Vermorken
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

  8 in total

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