202 related articles for article (PubMed ID: 24166784)
1. X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.
Campagna DR; de Bie CI; Schmitz-Abe K; Sweeney M; Sendamarai AK; Schmidt PJ; Heeney MM; Yntema HG; Kannengiesser C; Grandchamp B; Niemeyer CM; Knoers NV; Swart S; Marron G; van Wijk R; Raymakers RA; May A; Markianos K; Bottomley SS; Swinkels DW; Fleming MD
Am J Hematol; 2014 Mar; 89(3):315-9. PubMed ID: 24166784
[TBL] [Abstract][Full Text] [Related]
2. Intron 1 GATA site enhances ALAS2 expression indispensably during erythroid differentiation.
Zhang Y; Zhang J; An W; Wan Y; Ma S; Yin J; Li X; Gao J; Yuan W; Guo Y; Engel JD; Shi L; Cheng T; Zhu X
Nucleic Acids Res; 2017 Jan; 45(2):657-671. PubMed ID: 28123038
[TBL] [Abstract][Full Text] [Related]
3. Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia.
Kaneko K; Furuyama K; Fujiwara T; Kobayashi R; Ishida H; Harigae H; Shibahara S
Haematologica; 2014 Feb; 99(2):252-61. PubMed ID: 23935018
[TBL] [Abstract][Full Text] [Related]
4. A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.
Bekri S; May A; Cotter PD; Al-Sabah AI; Guo X; Masters GS; Bishop DF
Blood; 2003 Jul; 102(2):698-704. PubMed ID: 12663458
[TBL] [Abstract][Full Text] [Related]
5. X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2).
Bishop DF; Tchaikovskii V; Hoffbrand AV; Fraser ME; Margolis S
J Biol Chem; 2012 Aug; 287(34):28943-55. PubMed ID: 22740690
[TBL] [Abstract][Full Text] [Related]
6. X-linked sideroblastic anaemia due to ALAS₂ mutations in the Netherlands: a disease in disguise.
Donker AE; Raymakers RA; Nieuwenhuis HK; Coenen MJ; Janssen MC; MacKenzie MA; Brons PP; Swinkels DW
Neth J Med; 2014 May; 72(4):210-7. PubMed ID: 24829177
[TBL] [Abstract][Full Text] [Related]
7. Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias.
Peoc'h K; Nicolas G; Schmitt C; Mirmiran A; Daher R; Lefebvre T; Gouya L; Karim Z; Puy H
Mol Genet Metab; 2019 Nov; 128(3):190-197. PubMed ID: 30737140
[TBL] [Abstract][Full Text] [Related]
8. Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.
Cotter PD; May A; Fitzsimons EJ; Houston T; Woodcock BE; al-Sabah AI; Wong L; Bishop DF
J Clin Invest; 1995 Oct; 96(4):2090-6. PubMed ID: 7560104
[TBL] [Abstract][Full Text] [Related]
9. ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.
To-Figueras J; Ducamp S; Clayton J; Badenas C; Delaby C; Ged C; Lyoumi S; Gouya L; de Verneuil H; Beaumont C; Ferreira GC; Deybach JC; Herrero C; Puy H
Blood; 2011 Aug; 118(6):1443-51. PubMed ID: 21653323
[TBL] [Abstract][Full Text] [Related]
10. Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis.
Ono K; Fujiwara T; Saito K; Nishizawa H; Takahashi N; Suzuki C; Ochi T; Kato H; Ishii Y; Onodera K; Ichikawa S; Fukuhara N; Onishi Y; Yokoyama H; Yamada R; Nakamura Y; Igarashi K; Harigae H
Sci Rep; 2022 May; 12(1):9024. PubMed ID: 35637209
[TBL] [Abstract][Full Text] [Related]
11. Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation.
Cazzola M; May A; Bergamaschi G; Cerani P; Ferrillo S; Bishop DF
Blood; 2002 Dec; 100(12):4236-8. PubMed ID: 12393718
[TBL] [Abstract][Full Text] [Related]
12. X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley.
Cotter PD; Rucknagel DL; Bishop DF
Blood; 1994 Dec; 84(11):3915-24. PubMed ID: 7949148
[TBL] [Abstract][Full Text] [Related]
13. Anti-Correlation between the Dynamics of the Active Site Loop and C-Terminal Tail in Relation to the Homodimer Asymmetry of the Mouse Erythroid 5-Aminolevulinate Synthase.
Na I; Catena D; Kong MJ; Ferreira GC; Uversky VN
Int J Mol Sci; 2018 Jun; 19(7):. PubMed ID: 29958424
[TBL] [Abstract][Full Text] [Related]
14. Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia.
Fujiwara T; Harigae H
Free Radic Biol Med; 2019 Mar; 133():179-185. PubMed ID: 30098397
[TBL] [Abstract][Full Text] [Related]
15. Novel mutations in the ALAS2 gene from patients with X-linked sideroblastic anemia.
Li J; Chen L; Lin Y; Ru K
Int J Lab Hematol; 2020 Aug; 42(4):e160-e163. PubMed ID: 32297424
[No Abstract] [Full Text] [Related]
16. Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations.
Ducamp S; Kannengiesser C; Touati M; Garçon L; Guerci-Bresler A; Guichard JF; Vermylen C; Dochir J; Poirel HA; Fouyssac F; Mansuy L; Leroux G; Tertian G; Girot R; Heimpel H; Matthes T; Talbi N; Deybach JC; Beaumont C; Puy H; Grandchamp B
Hum Mutat; 2011 Jun; 32(6):590-7. PubMed ID: 21309041
[TBL] [Abstract][Full Text] [Related]
17. Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia.
Cox TC; Kozman HM; Raskind WH; May BK; Mulley JC
Hum Mol Genet; 1992 Nov; 1(8):639-41. PubMed ID: 1301172
[TBL] [Abstract][Full Text] [Related]
18. [Progress of study on sideroblastic anemia and its possible gene therapy--review].
Wang YQ; Zhu P
Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2005 Jun; 13(3):524-8. PubMed ID: 15972158
[TBL] [Abstract][Full Text] [Related]
19. X-linked sideroblastic anaemia in a female fetus: a case report and a literature review.
Nzelu D; Shangaris P; Story L; Smith F; Piyasena C; Alamelu J; Elmakky A; Pelidis M; Mayhew R; Sankaran S
BMC Med Genomics; 2021 Dec; 14(1):296. PubMed ID: 34930268
[TBL] [Abstract][Full Text] [Related]
20. Arg452 substitution of the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not itself affect enzyme activity.
Furuyama K; Harigae H; Heller T; Hamel BC; Minder EI; Shimizu T; Kuribara T; Blijlevens N; Shibahara S; Sassa S
Eur J Haematol; 2006 Jan; 76(1):33-41. PubMed ID: 16343269
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
