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 *

221 related articles for article (PubMed ID: 23815679)

  • 1. Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria.
    Bustad HJ; Vorland M; Rønneseth E; Sandberg S; Martinez A; Toska K
    Biosci Rep; 2013 Aug; 33(4):. PubMed ID: 23815679
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria.
    Ulbrichova D; Schneider-Yin X; Mamet R; Saudek V; Martasek P; Minder EI; Schoenfeld N
    Blood Cells Mol Dis; 2009; 42(2):167-73. PubMed ID: 19138865
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Human hydroxymethylbilane synthase: Molecular dynamics of the pyrrole chain elongation identifies step-specific residues that cause AIP.
    Bung N; Roy A; Chen B; Das D; Pradhan M; Yasuda M; New MI; Desnick RJ; Bulusu G
    Proc Natl Acad Sci U S A; 2018 Apr; 115(17):E4071-E4080. PubMed ID: 29632172
    [TBL] [Abstract][Full Text] [Related]  

  • 4. One ring closer to a closure: the crystal structure of the ES
    Bustad HJ; Christie MS; Laitaoja M; Aarsand AK; Martinez A; Jänis J; Kallio JP
    FEBS J; 2024 Feb; 291(3):510-526. PubMed ID: 37863644
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria.
    Zhang Y; Xiao H; Xiong Q; Wu C; Li P
    Int J Mol Sci; 2021 Oct; 22(20):. PubMed ID: 34681668
    [TBL] [Abstract][Full Text] [Related]  

  • 6. HMBS gene mutations and hydroxymethylbilane synthase activity in acute intermittent porphyria: A systematic review.
    Li S; Lei JJ; Dong BX; Ren Y; Yang J
    Medicine (Baltimore); 2023 Sep; 102(39):e35144. PubMed ID: 37773850
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study.
    Andersson C; Floderus Y; Wikberg A; Lithner F
    Scand J Clin Lab Invest; 2000 Nov; 60(7):643-8. PubMed ID: 11202057
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Acute intermittent porphyria: expression of mutant and wild-type porphobilinogen deaminase in COS-1 cells.
    Mustajoki S; Laine M; Lahtela M; Mustajoki P; Peltonen L; Kauppinen R
    Mol Med; 2000 Aug; 6(8):670-9. PubMed ID: 11055586
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.
    Ulbrichova D; Hrdinka M; Saudek V; Martasek P
    FEBS J; 2009 Apr; 276(7):2106-15. PubMed ID: 19292878
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.
    Clavero S; Bishop DF; Haskins ME; Giger U; Kauppinen R; Desnick RJ
    Hum Mol Genet; 2010 Feb; 19(4):584-96. PubMed ID: 19934113
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria.
    Schneider-Yin X; Ulbrichova D; Mamet R; Martasek P; Marohnic CC; Goren A; Minder EI; Schoenfeld N
    Mol Genet Metab; 2008 Jul; 94(3):343-6. PubMed ID: 18406650
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function.
    Christie MS; Laitaoja M; Aarsand AK; Kallio JP; Bustad HJ
    FEBS Open Bio; 2022 Dec; 12(12):2136-2146. PubMed ID: 36115019
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria.
    Gregor A; Schneider-Yin X; Szlendak U; Wettstein A; Lipniacka A; Rüfenacht UB; Minder EI
    Hum Mutat; 2002 Mar; 19(3):310. PubMed ID: 11857754
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria.
    Gonzaga AD; de Amorim LM; Fonseca AB; Nogueira TL; Pereira OM; Nagai MA; de Oliveira Barretto OC; Ribeiro GS
    Ann Hum Genet; 2015 May; 79(3):162-72. PubMed ID: 25703257
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification and characterization of HMBS gene mutations in Spanish patients with acute intermittent porphyria.
    Méndez M; Morán-Jiménez MJ; Gomez-Abecia S; García-Bravo M; Garrido-Astray MC; Fontanellas A; Poblete-Gutiérrez P; Frank J; Enriquez de Salamanca R
    Cell Mol Biol (Noisy-le-grand); 2009 Jul; 55(2):55-63. PubMed ID: 19656452
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Acute intermittent porphyria: the in vitro expression of mutant hydroxymethylbilane synthase.
    Ong PM; Lanyon WG; Graham G; Hift RJ; Halkett J; Moore MR; Connor JM
    Mol Cell Probes; 1997 Aug; 11(4):293-6. PubMed ID: 9281416
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).
    Solis C; Lopez-Echaniz I; Sefarty-Graneda D; Astrin KH; Desnick RJ
    Mol Med; 1999 Oct; 5(10):664-71. PubMed ID: 10602775
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria.
    Chen B; Solis-Villa C; Erwin AL; Balwani M; Nazarenko I; Phillips JD; Desnick RJ; Yasuda M
    J Inherit Metab Dis; 2019 Jan; 42(1):186-194. PubMed ID: 30740734
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Structural insight into acute intermittent porphyria.
    Song G; Li Y; Cheng C; Zhao Y; Gao A; Zhang R; Joachimiak A; Shaw N; Liu ZJ
    FASEB J; 2009 Feb; 23(2):396-404. PubMed ID: 18936296
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators.
    Bustad HJ; Kallio JP; Vorland M; Fiorentino V; Sandberg S; Schmitt C; Aarsand AK; Martinez A
    Int J Mol Sci; 2021 Jan; 22(2):. PubMed ID: 33445488
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.