Literature DB >> 80684

Enzymatic basis of typical X-linked icthyosis.

L J Shapiro, R Weiss, M M Buxman, J Vidgoff, R L Dimond, J A Roller, R S Wells.   

Abstract

Steroid sulphatase activity was determined in cultured fibroblasts from 25 individuals with X-linked ichthyosis from four countries. All those with X-linked disease had markedly reduced enzyme levels compared with controls and patients with other types of ichthyosis. X-linked ichthyosis seems to be the result of a common mutation affecting the expression of steroid-sulphatase activity.

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Year:  1978        PMID： 80684     DOI： 10.1016/s0140-6736(78)92646-6

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


  47 in total

1.  Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome.

Authors:  Rita M Cabral; Mazen Kurban; Muhammad Wajid; Yutaka Shimomura; Lynn Petukhova; Angela M Christiano
Journal:  Genomics       Date:  2012-01-25       Impact factor: 5.736

2.  Composite keratohyaline granules in palmoplantar keratoderma: an ultrastructural study.

Authors:  R Laurent; O Prost; M Nicollier; S C Marquet; M M Balzer; G Adessi
Journal:  Arch Dermatol Res       Date:  1985       Impact factor: 3.017

3.  [The ichthyoses. Pathophysiological models of epidermal differentiation].

Authors:  D Hohl; M Huber
Journal:  Hautarzt       Date:  2013-01       Impact factor: 0.751

4.  Combined histochemical and biochemical investigation to the reliability of the demonstration of arylsulphatase activity in cryostat sections.

Authors:  C M van der Loos; H H Volkers; A J Tigges; A E Meijer; A C Jöbsis
Journal:  Histochemistry       Date:  1979-08

5.  Placental steroid deficiency: association with arylsulfatase A deficiency.

Authors:  J Vidgoff; M M Buxman; L J Shapiro; R L Dimond; T G Wilson; C A Hepburn; T Tabei; W R Heinrichs
Journal:  Am J Hum Genet       Date:  1982-05       Impact factor: 11.025

6.  Evidence for a dosage effect at the X-linked steroid sulfatase locus in human tissues.

Authors:  P F Chance; S M Gartler
Journal:  Am J Hum Genet       Date:  1983-03       Impact factor: 11.025

7.  Cholesterol sulphate in the microsomal sulphatase deficient placenta.

Authors:  A Marinkovic-Ilsen; M L Williams
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

8.  Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X chromosome.

Authors:  T Mohandas; L J Shapiro; R S Sparkes; M C Sparkes
Journal:  Proc Natl Acad Sci U S A       Date:  1979-11       Impact factor: 11.205

9.  Ichthyosis, hepatosplenomegaly, and cerebellar degeneration in a sibship.

Authors:  P S Harper; R Marks; P J Dykes; I D Young
Journal:  J Med Genet       Date:  1980-06       Impact factor: 6.318

10.  Higher levels of plasma cholesterol sulfate in patients with liver cirrhosis and hypercholesterolemia.

Authors:  N Tamasawa; A Tamasawa; K Takebe
Journal:  Lipids       Date:  1993-09       Impact factor: 1.880
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