229 related articles for article (PubMed ID: 29360981)
1. 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]
2. 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]
3. 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]
4. 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]
5. High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor.
Barreda-Sánchez M; Buendía-Martínez J; Glover-López G; Carazo-Díaz C; Ballesta-Martínez MJ; López-González V; Sánchez-Soler MJ; Rodriguez-Peña L; Serrano-Antón AT; Gil-Ferrer R; Martínez-Romero MDC; Carbonell-Meseguer P; Guillén-Navarro E
Orphanet J Rare Dis; 2019 Feb; 14(1):59. PubMed ID: 30808393
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
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. 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]
11. 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]
12. 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]
13. Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria.
Guillén-Navarro E; Carbonell P; Glover G; Sánchez-Solís M; Fernández-Barreiro A
Ann Hum Genet; 2004 Sep; 68(Pt 5):509-14. PubMed ID: 15469427
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. [Molecular genetic study of acute intermittent porphyria in Russia: mutation analysis and functional polymorphism search in porphobilinogen deaminase gene].
Surin VL; Luchinina IuA; Selivanova DS; Pustovoĭt IaS; Karpova IS; Pivnik AV; Luk'ianenko AV; Kravchenko SK
Genetika; 2010 Apr; 46(4):540-52. PubMed ID: 20536026
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
