BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

178 related articles for article (PubMed ID: 37773850)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Acute intermittent porphyria: heterogeneity of mutations in the hydroxymethylbilane synthase gene in Italy.
    Martinez di Montemuros F; Di Pierro E; Biolcati G; Rocchi E; Bissolotti E; Tavazzi D; Fiorelli G; Cappellini MD
    Blood Cells Mol Dis; 2001; 27(6):961-70. PubMed ID: 11831862
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene.
    Ramdall RB; Cunha L; Astrin KH; Katz DR; Anderson KE; Glucksman M; Bottomley SS; Desnick RJ
    Genet Med; 2000; 2(5):290-5. PubMed ID: 11399210
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Bi-allelic hydroxymethylbilane synthase inactivation defines a homogenous clinico-molecular subtype of hepatocellular carcinoma.
    Molina L; Zhu J; Trépo E; Bayard Q; Amaddeo G; ; Blanc JF; Calderaro J; Ma X; Zucman-Rossi J; Letouzé E
    J Hepatol; 2022 Oct; 77(4):1038-1046. PubMed ID: 35636578
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Molecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetrance.
    Goncharova M; Pshenichnikova O; Luchinina Y; Pustovoit Y; Karpova I; Surin V
    Clin Genet; 2019 Jul; 96(1):91-97. PubMed ID: 31044425
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations.
    Whatley SD; Woolf JR; Elder GH
    Hum Genet; 1999 Jun; 104(6):505-10. PubMed ID: 10453740
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.
    Loskove Y; Yasuda M; Chen B; Nazarenko I; Cody N; Desnick RJ
    Mol Genet Metab; 2019 Nov; 128(3):352-357. PubMed ID: 30385147
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria.
    Hu Y; Li W; Kang N; Ma L; Teng Q; Mo G; Wu J; Wang X; Bi R; Zhang S
    Clin Genet; 2022 Jan; 101(1):116-121. PubMed ID: 34523126
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation.
    De Siervi A; Rossetti MV; Parera VE; Astrin KH; Aizencang GI; Glass IA; Batlle AM; Desnick RJ
    Am J Med Genet; 1999 Oct; 86(4):366-75. PubMed ID: 10494093
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular Analysis of 55 Spanish Patients with Acute Intermittent Porphyria.
    Morán-Jiménez MJ; Borrero-Corte MJ; Jara-Rubio F; García-Pastor I; Díaz-Díaz S; Castelbón-Fernandez FJ; Enríquez-de-Salamanca R; Méndez M
    Genes (Basel); 2020 Aug; 11(8):. PubMed ID: 32806544
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: report of four novel mutations.
    Martinez di Montemuros F; Di Pierro E; Fargion S; Biolcati G; Griso D; Macrì A; Fiorelli G; Cappellini MD
    Hum Mutat; 2000 May; 15(5):480. PubMed ID: 10790212
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.