Literature DB >> 15030995

SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect.

Emmanuel Gonzales, Danièle Cresteil, Christiane Baussan, Alain Dabadie, Marie-Françoise Gerhardt, Emmanuel Jacquemin.   

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Year:  2004        PMID： 15030995     DOI： 10.1016/j.jhep.2003.12.024

Source DB:  PubMed          Journal:  J Hepatol        ISSN： 0168-8278            Impact factor:   25.083


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  25 in total

1.  The effect of disease associated point mutations on 5β-reductase (AKR1D1) enzyme function.

Authors:  Rebekka Mindnich; Jason E Drury; Trevor M Penning
Journal:  Chem Biol Interact       Date:  2010-12-24       Impact factor: 5.192

2.  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 3.  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

4.  [Clinical feature and genetic analysis of a family affected by congenital bile acid synthesis defect type 2: identification of 2 novel mutations in AKR1D1 gene].

Authors:  Ying Cheng; Li Guo; Mei Deng; Yuan-Zong Song
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2017-07

5.  Shared genetic susceptibility of vascular-related biomarkers with ischemic and recurrent stroke.

Authors:  Stephen R Williams; Fang-Chi Hsu; Keith L Keene; Wei-Min Chen; Sarah Nelson; Andrew M Southerland; Ebony B Madden; Bruce Coull; Stephanie M Gogarten; Karen L Furie; Godfrey Dzhivhuho; Joe L Rowles; Prachi Mehndiratta; Rainer Malik; Josée Dupuis; Honghuang Lin; Sudha Seshadri; Stephen S Rich; Michèle M Sale; Bradford B Worrall
Journal:  Neurology       Date:  2015-12-30       Impact factor: 9.910

6.  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

Review 7.  Disorders of bile acid synthesis.

Authors:  Peter Theodore Clayton
Journal:  J Inherit Metab Dis       Date:  2011-01-13       Impact factor: 4.982

8.  A new susceptibility locus for hypospadias on chromosome 7q32.2-q36.1.

Authors:  Hanh T T Thai; Cilla Söderhäll; Kristina Lagerstedt; Mir Davood Omrani; Louise Frisén; Johanna Lundin; Ingrid Kockum; Agneta Nordenskjöld
Journal:  Hum Genet       Date:  2008-07-27       Impact factor: 4.132

9.  Genetic variation in aldo-keto reductase 1D1 (AKR1D1) affects the expression and activity of multiple cytochrome P450s.

Authors:  Amarjit S Chaudhry; Ranjit K Thirumaran; Kazuto Yasuda; Xia Yang; Yiping Fan; Stephen C Strom; Erin G Schuetz
Journal:  Drug Metab Dispos       Date:  2013-05-23       Impact factor: 3.922

Review 10.  Mechanisms of disease: Inborn errors of bile acid synthesis.

Authors:  Shikha S Sundaram; Kevin E Bove; Mark A Lovell; Ronald J Sokol
Journal:  Nat Clin Pract Gastroenterol Hepatol       Date:  2008-06-24
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