Literature DB >> 817929

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

M R Capobianchi, G Romeo.   

Abstract

Using an assay for sulfoiduronate sulfatase based on the degradation of 35S mucopolysaccharides in a cell-free system, two clonal populations have been demonstrated in fibroblasts of heterozygotes for Hunter's syndrome. The locus responsible for sulfoiduronate sulfatase deficiency in this X-linked mucopolysaccharidosis is therefore subjected to dosage compensation in females.

Entities:  

Mesh：

Year:  1976        PMID： 817929     DOI： 10.1007/BF01920795

Source DB:  PubMed          Journal:  Experientia        ISSN： 0014-4754


  19 in total

1.  New method for mapping genes in human chromosomes.

Authors:  S J Goss; H Harris
Journal:  Nature       Date:  1975-06-26       Impact factor: 49.962

2.  DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS.

Authors:  R G DAVIDSON; H M NITOWSKY; B CHILDS
Journal:  Proc Natl Acad Sci U S A       Date:  1963-09       Impact factor: 11.205

3.  [Ultrastructural aspects and biochemical significance of metachromatic granulations and other inclusions in cultured fibroblasts from lipidosis and mucopolysaccharidosis].

Authors:  G Lyon; M C Hors-Cayla; V Jonsson; P Maroteaux
Journal:  J Neurol Sci       Date:  1973-06       Impact factor: 3.181

4.  Demonstration of the heterozygous state in Hunter's syndrome.

Authors:  C W Booth; H L Nadler
Journal:  Pediatrics       Date:  1974-03       Impact factor: 7.124

5.  The defect in Hurler and Hunter syndromes. II. Deficiency of specific factors involved in mucopolysaccharide degradation.

Authors:  J C Fratantoni; C W Hall; E F Neufeld
Journal:  Proc Natl Acad Sci U S A       Date:  1969-09       Impact factor: 11.205

6.  Glycogen-storage disease associated with phosphorylase kinase deficiency: evidence for X inactivation.

Authors:  B R Migeon; F Huijing
Journal:  Am J Hum Genet       Date:  1974-05       Impact factor: 11.025

7.  An assay for iduronate sulfatase (Hunter corrective factor).

Authors:  T W Lim; I G Leder; G Bach; E F Neufeld
Journal:  Carbohydr Res       Date:  1974-10       Impact factor: 2.104

8.  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

9.  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

10.  Hurler's syndrome. A genetic study in cell culture.

Authors:  B S Danes; A G Bearn
Journal:  J Exp Med       Date:  1966-01-01       Impact factor: 14.307
View more
  9 in total

1.  Iduronate sulfatase analysis of hair roots for identification of Hunter syndrome heterozygotes.

Authors:  T Yutaka; A L Fluharty; R L Stevens; H Kihara
Journal:  Am J Hum Genet       Date:  1978-11       Impact factor: 11.025

2.  Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing.

Authors:  K M Timms; F J Edwards; J W Belmont; J R Yates; R A Gibbs
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

3.  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

4.  Expression of genes from the human active and inactive X chromosomes.

Authors:  C J Brown; L Carrel; H F Willard
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

5.  X-linked Hunter syndrome: the heterozygous phenotype in cell culture.

Authors:  B R Migeon; J A Sprenkle; I Liebaers; J F Scott; E F Neufeld
Journal:  Am J Hum Genet       Date:  1977-09       Impact factor: 11.025

6.  Detection of hunter heterozygotes by enzymatic analysis of hair roots.

Authors:  N Nwokoro; E F Neufeld
Journal:  Am J Hum Genet       Date:  1979-01       Impact factor: 11.025

7.  Clinical and biochemical studies in mucopolysaccharidosis type II carriers.

Authors:  I V D Schwartz; L L C Pinto; G Breda; L Lima; M G Ribeiro; J G Mota; A X Acosta; P Correia; D D G Horovitz; C G G Porciuncula; E Lipinski-Figueiredo; A C Fett-Conte; R P Oliveira Sobrinho; D Y J Norato; A C Paula; C A Kim; A R Duarte; R Boy; S Leistner-Segal; M G Burin; R Giugliani
Journal:  J Inherit Metab Dis       Date:  2009-10-10       Impact factor: 4.982

8.  Reliability of the use of fructose 1-phosphate to detect Hunter cells in fibroblast-cultures of obligate carriers of the Hunter syndrome.

Authors:  T Tønnesen; F Güttler; C Lykkelund
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

9.  Diagnosis of Hunter's syndrome carriers; radioactive sulphate incorporation into fibroblasts in the presence or fructose 1-phosphate.

Authors:  T Tønnesen; C Lykkelund; F Güttler
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.