Literature DB >> 7759084

No linkage to the 3 beta-HSD gene cluster in a kindred affected with 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency and early onset hepatic failure.

A Russell1, H Nazer, A Shams, J Sjövall, R Sutcliffe.   

Abstract

We studied the segregation of the genes for 3 beta-hydroxy-C19/21-steroid dehydrogenase types I and II (3 beta-HSD I and II) in a consanguineous family affected with 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase (3 beta-OH-C27-SD) deficiency. The results show that the C27 and C19/21 steroid dehydrogenase activities are encoded by distinct genes that are not in genetic linkage. Further kindreds would assist in screening for linkage of 3 beta-OH-C27-SD to other members of the 3 beta-hydroxysteroid dehydrogenase gene family.

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Year:  1995        PMID： 7759084     DOI： 10.1007/BF00223876

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  18 in total

1.  Regional chromosomal assignment of human 3-beta-hydroxy-5-ene steroid dehydrogenase to 1p13.1 by non-isotopic in situ hybridisation.

Authors:  N Morrison; D A Nickson; M W McBride; U W Mueller; E Boyd; R G Sutcliffe
Journal:  Hum Genet       Date:  1991-06       Impact factor: 4.132

2.  Bile acids and bile alcohols in a child with hepatic 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency: effects of chenodeoxycholic acid treatment.

Authors:  H Ichimiya; B Egestad; H Nazer; E S Baginski; P T Clayton; J Sjövall
Journal:  J Lipid Res       Date:  1991-05       Impact factor: 5.922

Review 3.  Bile acid biosynthesis.

Authors:  D W Russell; K D Setchell
Journal:  Biochemistry       Date:  1992-05-26       Impact factor: 3.162

4.  3 -Hydroxy- 5 -C 19 -and C 21 -steroid oxidoreductase activity in rat liver.

Authors:  I Björkhem; K Einarsson; J A Gustafsson
Journal:  Steroids       Date:  1972-04       Impact factor: 2.668

5.  Structure and sexual dimorphic expression of a liver-specific rat 3 beta-hydroxysteroid dehydrogenase/isomerase.

Authors:  H F Zhao; E Rheáume; C Trudel; J Couët; F Labrie; J Simard
Journal:  Endocrinology       Date:  1990-12       Impact factor: 4.736

6.  Expression of liver-specific member of the 3 beta-hydroxysteroid dehydrogenase family, an isoform possessing an almost exclusive 3-ketosteroid reductase activity.

Authors:  Y de Launoit; H F Zhao; A Bélanger; F Labrie; J Simard
Journal:  J Biol Chem       Date:  1992-03-05       Impact factor: 5.157

7.  The 3beta-hydroxysteroid dehydrogenase gene family of enzymes.

Authors:  J Ian Mason
Journal:  Trends Endocrinol Metab       Date:  1993-08       Impact factor: 12.015

8.  A novel mouse kidney 3 beta-hydroxysteroid dehydrogenase complementary DNA encodes a 3-ketosteroid reductase instead of a 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase.

Authors:  T R Clarke; P A Bain; T L Greco; A H Payne
Journal:  Mol Endocrinol       Date:  1993-12

9.  Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene.

Authors:  E Rhéaume; J Simard; Y Morel; F Mebarki; M Zachmann; M G Forest; M I New; F Labrie
Journal:  Nat Genet       Date:  1992-07       Impact factor: 38.330

10.  Mutation in the human gene for 3 beta-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss.

Authors:  A J Russell; A M Wallace; M G Forest; M D Donaldson; C R Edwards; R G Sutcliffe
Journal:  J Mol Endocrinol       Date:  1994-04       Impact factor: 5.098
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  1 in total

1.  Fifty years with bile acids and steroids in health and disease.

Authors:  Jan Sjövall
Journal:  Lipids       Date:  2004-08       Impact factor: 1.880
  1 in total

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