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Year Number of Results
1990 1
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2000 5
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397 results

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Page 1
Heme biosynthesis and the porphyrias.
Phillips JD. Phillips JD. Mol Genet Metab. 2019 Nov;128(3):164-177. doi: 10.1016/j.ymgme.2019.04.008. Epub 2019 Apr 22. Mol Genet Metab. 2019. PMID: 31326287 Free PMC article. Review.
Each of the 8 enzymes in the heme biosynthetic pathway have been associated with a specific porphyria (Table 1). Mutations affecting the erythroid form of ALA synthase (ALAS2) are most commonly associated with X-linked sideroblastic anemia, however, gain-of-function mutati …
Each of the 8 enzymes in the heme biosynthetic pathway have been associated with a specific porphyria (Table 1). Mutations affecting the ery …
A Novel ALAS2 Mutation Causes Congenital Sideroblastic Anemia.
Ding Y, Yang K, Liu X, Xiao J, Li W, Zhong H. Ding Y, et al. Mediterr J Hematol Infect Dis. 2023 Nov 1;15(1):e2023062. doi: 10.4084/MJHID.2023.062. eCollection 2023. Mediterr J Hematol Infect Dis. 2023. PMID: 38028395 Free PMC article. No abstract available.
X-Linked Protoporphyria.
Balwani M, Desnick R; Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network. Balwani M, et al. 2013 Feb 14 [updated 2019 Nov 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2013 Feb 14 [updated 2019 Nov 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 23409301 Free Books & Documents. Review.
Affected males transmit the pathogenic variant to all of their daughters and none of their sons. Women with an ALAS2 pathogenic variant have a 50% chance of transmitting the variant to each child. Once the ALAS2 pathogenic variant has been identified in an affected …
Affected males transmit the pathogenic variant to all of their daughters and none of their sons. Women with an ALAS2 pathogenic varia …
ALAS2 overexpression alleviates oxidative stress-induced ferroptosis in aortic aneurysms via GATA1 activation.
He Y, Wang X, Li D, Zhu Q, Xiang Y, He Y, Zhang H. He Y, et al. J Thorac Dis. 2024 Apr 30;16(4):2510-2527. doi: 10.21037/jtd-24-370. Epub 2024 Apr 29. J Thorac Dis. 2024. PMID: 38738239 Free PMC article.
ALAS2 overexpression reversed H(2)O(2)-induced apoptosis and increased the inflammatory cytokine levels. ...These findings suggested that the ALAS2 and GATA1 regulatory pathways may be potential therapeutic targets in aortic aneurysms....
ALAS2 overexpression reversed H(2)O(2)-induced apoptosis and increased the inflammatory cytokine levels. ...These findings suggested …
Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants.
Tchaikovskii V, Desnick RJ, Bishop DF. Tchaikovskii V, et al. Mol Med. 2019 Jan 24;25(1):4. doi: 10.1186/s10020-019-0070-9. Mol Med. 2019. PMID: 30678654 Free PMC article.
., Hum Mol Genet 22:1280-88, 2013) of the erythroid-specific aminolevulinate synthase gene (ALAS2). Five ALAS2 exon 11 variants identified by the NHBLI Exome sequencing project (p.R559H, p.E565D, p.R572C, p.S573F and p.Y586F) were expressed, purified and characteriz …
., Hum Mol Genet 22:1280-88, 2013) of the erythroid-specific aminolevulinate synthase gene (ALAS2). Five ALAS2 exon 11 variant …
Exploring the mechanistic link between SF3B1 mutation and ring sideroblast formation in myelodysplastic syndrome.
Ochi T, Fujiwara T, Ono K, Suzuki C, Nikaido M, Inoue D, Kato H, Onodera K, Ichikawa S, Fukuhara N, Onishi Y, Yokoyama H, Nakamura Y, Harigae H. Ochi T, et al. Sci Rep. 2022 Aug 26;12(1):14562. doi: 10.1038/s41598-022-18921-2. Sci Rep. 2022. PMID: 36028755 Free PMC article.
SF3B1(K700E) expressing cells showed higher proportion of RS than the control cells along with erythroid differentiation, indicating the direct contribution of mutant SF3B1 expression in erythroblasts to RS formation. In SF3B1(K700E) expressing cells, ABCB7 and ALAS2, know …
SF3B1(K700E) expressing cells showed higher proportion of RS than the control cells along with erythroid differentiation, indicating the dir …
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. To-Figueras J, et al. Blood. 2011 Aug 11;118(6):1443-51. doi: 10.1182/blood-2011-03-342873. Epub 2011 Jun 7. Blood. 2011. PMID: 21653323 Free article.
We genotyped ALAS2 in 4 unrelated CEP patients exhibiting the same C73R/P248Q UROS genotype. The most severe of the CEP patients, a young girl, proved to be heterozygous for a novel ALAS2 mutation: c.1757 A > T in exon 11. This mutation is predicted to affect the …
We genotyped ALAS2 in 4 unrelated CEP patients exhibiting the same C73R/P248Q UROS genotype. The most severe of the CEP patients, a y …
Protective effects of electroacupuncture on polycystic ovary syndrome in rats: Down-regulating Alas2 to inhibit apoptosis, oxidative stress, and mitochondrial dysfunction in ovarian granulosa cells.
Cong J, Li M, Wang Y, Ma H, Yang X, Gao J, Wang L, Wu X. Cong J, et al. Tissue Cell. 2023 Jun;82:102090. doi: 10.1016/j.tice.2023.102090. Epub 2023 Apr 11. Tissue Cell. 2023. PMID: 37075681
PCOS led to the upregulation of Alas2 mRNA, whereas EA treatment restored this change. In vitro, primary ovarian granulosa cells (GCs) were challenged with H(2)O(2) to mimic the oxidative stress (OS) state in PCOS. H(2)O(2) induced apoptosis, OS, mitochondrial dysfunction, …
PCOS led to the upregulation of Alas2 mRNA, whereas EA treatment restored this change. In vitro, primary ovarian granulosa cells (GCs …
METTL3-modified lncRNA-SNHG8 binds to PTBP1 to regulate ALAS2 expression to increase oxidative stress and promote myocardial infarction.
Tang J, Tang QX, Liu S. Tang J, et al. Mol Cell Biochem. 2023 Jun;478(6):1217-1229. doi: 10.1007/s11010-022-04570-6. Epub 2022 Oct 25. Mol Cell Biochem. 2023. PMID: 36282350
The cardiac function and MI area of mice were detected, and myocardial tissue injury was detected by HE staining. ALAS2 expression in mice myocardial tissue was detected by IHC. The expressions of lncRNA-SNHG8, METTL3, PTBP1 and ALAS2 in myocardial tissue or cardiom …
The cardiac function and MI area of mice were detected, and myocardial tissue injury was detected by HE staining. ALAS2 expression in …
397 results