These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

124 related articles for article (PubMed ID: 35758383)

  • 1. Clinical and genetic features of congenital bile acid synthesis defect with a novel mutation in AKR1D1 gene sequencing: Case reports.
    Pham AN; Thi KB; Thi MN; Ngo DN; Naritaka N; Nittono H; Hayashi H; Dao TT; Nguyen KT; Nguyen HN; Giang H; Tang HS; Nguyen TT; Truong DK; Tran MD
    Medicine (Baltimore); 2022 Jun; 101(25):e29476. PubMed ID: 35758383
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Δ4-3-oxosteroid-5β-reductase deficiency: Responses to oral bile acid therapy and long-term outcomes.
    Zhang MH; Setchell KD; Zhao J; Gong JY; Lu Y; Wang JS
    World J Gastroenterol; 2019 Feb; 25(7):859-869. PubMed ID: 30809085
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Primary ∆4-3-oxosteroid 5β-reductase deficiency: two cases in China.
    Zhao J; Fang LJ; Setchell KD; Chen R; Li LT; Wang JS
    World J Gastroenterol; 2012 Dec; 18(47):7113-7. PubMed ID: 23323017
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Differential Feedback Regulation of Δ4-3-Oxosteroid 5β-Reductase Expression by Bile Acids.
    Valanejad L; Nadolny C; Shiffka S; Chen Y; You S; Deng R
    PLoS One; 2017; 12(1):e0170960. PubMed ID: 28125709
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Bile Acid Synthesis Disorders in Japan: Long-Term Outcome and Chenodeoxycholic Acid Treatment.
    Kimura A; Mizuochi T; Takei H; Ohtake A; Mori J; Shinoda K; Hashimoto T; Kasahara M; Togawa T; Murai T; Iida T; Nittono H
    Dig Dis Sci; 2021 Nov; 66(11):3885-3892. PubMed ID: 33385262
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [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].
    Cheng Y; Guo L; Deng M; Song YZ
    Zhongguo Dang Dai Er Ke Za Zhi; 2017 Jul; 19(7):734-740. PubMed ID: 28697823
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Infant cholestasis patient with a novel missense mutation in the
    Wang HH; Wen FQ; Dai DL; Wang JS; Zhao J; Setchell KD; Shi LN; Zhou SM; Liu SX; Yang QH
    World J Gastroenterol; 2018 Sep; 24(35):4086-4092. PubMed ID: 30254413
    [TBL] [Abstract][Full Text] [Related]  

  • 8. AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases.
    Chen JY; Wu JF; Kimura A; Nittono H; Liou BY; Lee CS; Chen HS; Chiu YC; Ni YH; Peng SS; Lee WT; Tsai IJ; Chang MH; Chen HL
    Pediatr Neonatol; 2020 Feb; 61(1):75-83. PubMed ID: 31337596
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ
    Zhao J; Qiu YL; Wang L; Li ZD; Xie XB; Lu Y; Setchell KDR; Cheng Y; Xing QH; Wang JS
    J Mol Diagn; 2023 Apr; 25(4):227-233. PubMed ID: 36739965
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency.
    Drury JE; Mindnich R; Penning TM
    J Biol Chem; 2010 Aug; 285(32):24529-37. PubMed ID: 20522910
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Distinguishing primary from secondary Δ(4) -3-oxosteroid 5β-reductase (SRD5B1, AKR1D1) deficiency by urinary steroid analysis.
    Yanagi T; Mizuochi T; Homma K; Ueki I; Seki Y; Hasegawa T; Takei H; Nittono H; Kurosawa T; Matsuishi T; Kimura A
    Clin Endocrinol (Oxf); 2015 Mar; 82(3):346-51. PubMed ID: 25154774
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy.
    Lemonde HA; Custard EJ; Bouquet J; Duran M; Overmars H; Scambler PJ; Clayton PT
    Gut; 2003 Oct; 52(10):1494-9. PubMed ID: 12970144
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Dysregulation of Δ
    Valanejad L; Ghareeb M; Shiffka S; Nadolny C; Chen Y; Guo L; Verma R; You S; Akhlaghi F; Deng R
    Mol Cell Endocrinol; 2018 Jul; 470():127-141. PubMed ID: 29024782
    [TBL] [Abstract][Full Text] [Related]  

  • 14. In-Depth Dissection of the P133R Mutation in Steroid 5β-Reductase (AKR1D1): A Molecular Basis of Bile Acid Deficiency.
    Chen M; Jin Y; Penning TM
    Biochemistry; 2015 Oct; 54(41):6343-51. PubMed ID: 26418565
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment.
    Seki Y; Mizuochi T; Kimura A; Takahashi T; Ohtake A; Hayashi S; Morimura T; Ohno Y; Hoshina T; Ihara K; Takei H; Nittono H; Kurosawa T; Homma K; Hasegawa T; Matsuishi T
    J Inherit Metab Dis; 2013 May; 36(3):565-73. PubMed ID: 23160874
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The effect of disease associated point mutations on 5β-reductase (AKR1D1) enzyme function.
    Mindnich R; Drury JE; Penning TM
    Chem Biol Interact; 2011 May; 191(1-3):250-4. PubMed ID: 21185810
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Delta 4-3-oxosteroid 5 beta-reductase deficiency: failure of ursodeoxycholic acid treatment and response to chenodeoxycholic acid plus cholic acid.
    Clayton PT; Mills KA; Johnson AW; Barabino A; Marazzi MG
    Gut; 1996 Apr; 38(4):623-8. PubMed ID: 8707100
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Rate of steroid double-bond reduction catalysed by the human steroid 5β-reductase (AKR1D1) is sensitive to steroid structure: implications for steroid metabolism and bile acid synthesis.
    Jin Y; Chen M; Penning TM
    Biochem J; 2014 Aug; 462(1):163-71. PubMed ID: 24894951
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Diagnosis of the first Japanese patient with 3-oxo-delta4-steroid 5beta-reductase deficiency by use of immunoblot analysis.
    Kimura A; Kondo KH; Okuda KI; Higashi S; Suzuki M; Kurosawa T; Tohma M; Inoue T; Nishiyori A; Yoshino M; Kato H; Setoguchi T
    Eur J Pediatr; 1998 May; 157(5):386-90. PubMed ID: 9625335
    [TBL] [Abstract][Full Text] [Related]  

  • 20. SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta4-steroid 5beta-reductase deficiency.
    Ueki I; Kimura A; Chen HL; Yorifuji T; Mori J; Itoh S; Maruyama K; Ishige T; Takei H; Nittono H; Kurosawa T; Kage M; Matsuishi T
    J Gastroenterol Hepatol; 2009 May; 24(5):776-85. PubMed ID: 19175828
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.