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Literature DB >> 9024384

Gene analysis in delta 4-3-oxosteroid 5 beta-reductase deficiency.

R Sumazaki, N Nakamura, J Shoda, T Kurosawa, M Tohma.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 1997 PMID： 9024384 DOI： 10.1016/s0140-6736(05)62828-0

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

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8 in total

1. Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency.

Authors: Jason E Drury; Rebekka Mindnich; Trevor M Penning
Journal: J Biol Chem Date: 2010-06-03 Impact factor: 5.157

Review 2. Structural and Functional Biology of Aldo-Keto Reductase Steroid-Transforming Enzymes.

Authors: Trevor M Penning; Phumvadee Wangtrakuldee; Richard J Auchus
Journal: Endocr Rev Date: 2019-04-01 Impact factor: 19.871

3. Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment.

Authors: Yoshitaka Seki; Tatsuki Mizuochi; Akihiko Kimura; Tomoyuki Takahashi; Akira Ohtake; Shin-Ichi Hayashi; Toshiya Morimura; Yasuharu Ohno; Takayuki Hoshina; Kenji Ihara; Hajime Takei; Hiroshi Nittono; Takao Kurosawa; Keiko Homma; Tomonobu Hasegawa; Toyojiro Matsuishi
Journal: J Inherit Metab Dis Date: 2012-11-16 Impact factor: 4.982

4. Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy.

Authors: H A Lemonde; E J Custard; J Bouquet; M Duran; H Overmars; P J Scambler; P T Clayton
Journal: Gut Date: 2003-10 Impact factor: 23.059

Gene analysis in delta 4-3-oxosteroid 5 beta-reductase deficiency.

1. Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency.

Review 2. Structural and Functional Biology of Aldo-Keto Reductase Steroid-Transforming Enzymes.

3. Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment.

4. Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy.

5. Primary ∆4-3-oxosteroid 5β-reductase deficiency: two cases in China.

Review 6. Mechanisms of disease: Inborn errors of bile acid synthesis.

Review 7. Human aldo-keto reductases: Function, gene regulation, and single nucleotide polymorphisms.

Review 8. The aldo-keto reductases (AKRs): Overview.