Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Steroid-sulfatase deficiency in sex-linked ichthyosis.

Literature DB >> 155398

Steroid-sulfatase deficiency in sex-linked ichthyosis.

Abstract

Steroid-sulfatase activity was absent in the cultured fibroblasts of nine affected members of eight families with sex-linked ichthyosis. An intermediate value of enzyme activity was found in an obligate heterozygote and a normal value in a patient with ichthyosis vulgaris. Cultured epidermal cells of an affected individual also had no enzyme activity, while normal cultured epidermal cells did.

Entities: Disease Species

Mesh：

Substances：

Year: 1979 PMID： 155398 PMCID： PMC1685684

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

5 in total

1. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding.

Authors: M M Bradford
Journal: Anal Biochem Date: 1976-05-07 Impact factor: 3.365

2. Steroid sulfatase deficiency.

Authors: L J Shapiro; L Cousins; A L Fluharty; R L Stevens; H Kihara
Journal: Pediatr Res Date: 1977-08 Impact factor: 3.756

3. X-linked ichthyosis due to steroid-sulphatase deficiency.

Authors: D Webster; J T France; L J Shapiro; R Weiss
Journal: Lancet Date: 1978-01-14 Impact factor: 79.321

4. X-linked ichthyosis and ichthyosis vulgaris. Clinical and genetic distinctions in a second series of families.

Authors: R S Wells; M C Jennings
Journal: JAMA Date: 1967-11-06 Impact factor: 56.272

5. Serial cultivation of strains of human epidermal keratinocytes: the formation of keratinizing colonies from single cells.

Authors: J G Rheinwald; H Green
Journal: Cell Date: 1975-11 Impact factor: 41.582

5 in total

23 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. Deficiency of arylsulfatase C in cultured skin fibroblasts of X-linked ichthyosis.

Authors: J C Meyer; H Weiss; H P Grundmann; T G Würsch; U W Schnyder
Journal: Hum Genet Date: 1979 Impact factor: 4.132

3. Biochemical investigation to the reliability of the histochemical demonstration of microsomal arylsulphatase activity in cryostat sections.

Authors: C M van der Loos; A J van Breda; A E Meijer; A C Jöbsis
Journal: Histochemistry Date: 1981

4. Elevated levels of arylsulfatase C activity in cultured skin fibroblasts of patients with autosomal dominant ichthyosis vulgaris.

Authors: J C Meyer; H Grundmann; H Weiss
Journal: Hum Genet Date: 1982 Impact factor: 4.132

Steroid-sulfatase deficiency in sex-linked ichthyosis.

1. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding.

2. Steroid sulfatase deficiency.

3. X-linked ichthyosis due to steroid-sulphatase deficiency.

4. X-linked ichthyosis and ichthyosis vulgaris. Clinical and genetic distinctions in a second series of families.

5. Serial cultivation of strains of human epidermal keratinocytes: the formation of keratinizing colonies from single cells.

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

2. Deficiency of arylsulfatase C in cultured skin fibroblasts of X-linked ichthyosis.

3. Biochemical investigation to the reliability of the histochemical demonstration of microsomal arylsulphatase activity in cryostat sections.

4. Elevated levels of arylsulfatase C activity in cultured skin fibroblasts of patients with autosomal dominant ichthyosis vulgaris.

Review 5. Review: genetics of steroid sulphatase deficiency and X-linked ichthyosis.

6. Hair root analysis in X-linked ichthyosis.

7. Arylsulfatase C activities in skin preparations of X-linked and autosomal dominant ichthyosis.

Review 8. Role of cholesterol sulfate in epidermal structure and function: lessons from X-linked ichthyosis.

9. Regional assignment of the gene locus for steroid sulfatase.

10. Recessive X-linked ichthyosis: lack of immunologically detectable steroid sulfatase enzyme protein.