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 *

200 related articles for article (PubMed ID: 32197664)

  • 21. Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
    Schneider-Yin X; van Tuyll van Serooskerken AM; Siegesmund M; Went P; Barman-Aksözen J; Bladergroen RS; Komminoth P; Cloots RH; Winnepenninckx VJ; zur Hausen A; Weber M; Driessen A; Poblete-Gutiérrez P; Bauer P; Schroeder C; van Geel M; Minder EI; Frank J
    J Hepatol; 2015 Mar; 62(3):734-8. PubMed ID: 25445397
    [TBL] [Abstract][Full Text] [Related]  

  • 22. New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.
    Gross U; Puy H; Doss M; Robreau AM; Nordmann Y; Doss MO; Deybach JC
    Mol Cell Probes; 1999 Dec; 13(6):443-7. PubMed ID: 10657149
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias.
    Solis C; Martinez-Bermejo A; Naidich TP; Kaufmann WE; Astrin KH; Bishop DF; Desnick RJ
    Arch Neurol; 2004 Nov; 61(11):1764-70. PubMed ID: 15534187
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme.
    Chen CH; Astrin KH; Lee G; Anderson KE; Desnick RJ
    J Clin Invest; 1994 Nov; 94(5):1927-37. PubMed ID: 7962538
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. 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]  

  • 27. 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]  

  • 28. Non-viral delivery of the porphobilinogen deaminase cDNA into a mouse model of acute intermittent porphyria.
    Johansson A; Nowak G; Möller C; Harper P
    Mol Genet Metab; 2004 May; 82(1):20-6. PubMed ID: 15110317
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Novel Mutation of Hydroxymethylbilane Synthase in a Case of Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome.
    Yang AL; Ma LM; Zhang HJ; Zhang JW
    J Coll Physicians Surg Pak; 2022 Dec; 32(12):SS102-SS104. PubMed ID: 36597305
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Acute intermittent porphyria: vector optimization for gene therapy.
    Yasuda M; Domaradzki ME; Armentano D; Cheng SH; Bishop DF; Desnick RJ
    J Gene Med; 2007 Sep; 9(9):806-11. PubMed ID: 17654633
    [TBL] [Abstract][Full Text] [Related]  

  • 32. From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria.
    Lenglet H; Schmitt C; Grange T; Manceau H; Karboul N; Bouchet-Crivat F; Robreau AM; Nicolas G; Lamoril J; Simonin S; Mirmiran A; Karim Z; Casalino E; Deybach JC; Puy H; Peoc'h K; Gouya L
    Hum Mol Genet; 2018 Apr; 27(7):1164-1173. PubMed ID: 29360981
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Circulating fluorocytes at the first attack of acute intermittent porphyria: a missing link in the pathogenesis.
    Lam CW; Lau KC; Mak CM; Tsang MW; Chan YW
    Clin Chim Acta; 2011 Jan; 412(1-2):208-12. PubMed ID: 20850424
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Systemic messenger RNA as an etiological treatment for acute intermittent porphyria.
    Jiang L; Berraondo P; Jericó D; Guey LT; Sampedro A; Frassetto A; Benenato KE; Burke K; Santamaría E; Alegre M; Pejenaute Á; Kalariya M; Butcher W; Park JS; Zhu X; Sabnis S; Kumarasinghe ES; Salerno T; Kenney M; Lukacs CM; Ávila MA; Martini PGV; Fontanellas A
    Nat Med; 2018 Dec; 24(12):1899-1909. PubMed ID: 30297912
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene.
    Astrin KH; Desnick RJ
    Hum Mutat; 1994; 4(4):243-52. PubMed ID: 7866402
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Acute Intermittent Porphyria: Complete Phenotype in a Patient with p.Arg173Trp Variant in Thailand.
    Sriprakoon V; Ittagornpunth C; Puapaiboon N; Bunyahathaipat A; Piriyanon P; Khositseth S; Rojnueangnit K
    Am J Case Rep; 2022 Nov; 23():e937695. PubMed ID: 36329616
    [TBL] [Abstract][Full Text] [Related]  

  • 38. HMBS mutations in Chinese patients with acute intermittent porphyria.
    Yang CC; Kuo HC; You HL; Wang J; Huang CC; Liu CY; Lan MY; Stephenson DA; Lee MJ
    Ann Hum Genet; 2008 Sep; 72(Pt 5):683-6. PubMed ID: 18627369
    [TBL] [Abstract][Full Text] [Related]  

  • 39. AAV8-mediated gene therapy prevents induced biochemical attacks of acute intermittent porphyria and improves neuromotor function.
    Yasuda M; Bishop DF; Fowkes M; Cheng SH; Gan L; Desnick RJ
    Mol Ther; 2010 Jan; 18(1):17-22. PubMed ID: 19861948
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A large deletion on chromosome 11 in acute intermittent porphyria.
    Di Pierro E; Besana V; Moriondo V; Brancaleoni V; Tavazzi D; Casalgrandi G; Ventura P; Rocchi E; Cappellini MD
    Blood Cells Mol Dis; 2006; 37(1):50-4. PubMed ID: 16828319
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.