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 *

213 related articles for article (PubMed ID: 38888931)

  • 21. 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]  

  • 22. The carboxyl-terminal region of erythroid-specific 5-aminolevulinate synthase acts as an intrinsic modifier for its catalytic activity and protein stability.
    Kadirvel S; Furuyama K; Harigae H; Kaneko K; Tamai Y; Ishida Y; Shibahara S
    Exp Hematol; 2012 Jun; 40(6):477-86.e1. PubMed ID: 22269113
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Asn-150 of Murine Erythroid 5-Aminolevulinate Synthase Modulates the Catalytic Balance between the Rates of the Reversible Reaction.
    Stojanovski BM; Ferreira GC
    J Biol Chem; 2015 Dec; 290(52):30750-61. PubMed ID: 26511319
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 5-Aminolevulinate synthase catalysis: The catcher in heme biosynthesis.
    Stojanovski BM; Hunter GA; Na I; Uversky VN; Jiang RHY; Ferreira GC
    Mol Genet Metab; 2019 Nov; 128(3):178-189. PubMed ID: 31345668
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia.
    Bottomley SS; May BK; Cox TC; Cotter PD; Bishop DF
    J Bioenerg Biomembr; 1995 Apr; 27(2):161-8. PubMed ID: 7592563
    [TBL] [Abstract][Full Text] [Related]  

  • 26. C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.
    Whatley SD; Ducamp S; Gouya L; Grandchamp B; Beaumont C; Badminton MN; Elder GH; Holme SA; Anstey AV; Parker M; Corrigall AV; Meissner PN; Hift RJ; Marsden JT; Ma Y; Mieli-Vergani G; Deybach JC; Puy H
    Am J Hum Genet; 2008 Sep; 83(3):408-14. PubMed ID: 18760763
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [Pathophysiology of sideroblastic anemia].
    Fujiwara T
    Rinsho Ketsueki; 2024; 65(9):911-919. PubMed ID: 39358290
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 5-Aminolevulinic acid synthase: mechanism, mutations and medicine.
    Shoolingin-Jordan PM; Al-Daihan S; Alexeev D; Baxter RL; Bottomley SS; Kahari ID; Roy I; Sarwar M; Sawyer L; Wang SF
    Biochim Biophys Acta; 2003 Apr; 1647(1-2):361-6. PubMed ID: 12686158
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Regulation of erythroid 5-aminolevulinate synthase expression during erythropoiesis.
    Sadlon TJ; Dell'Oso T; Surinya KH; May BK
    Int J Biochem Cell Biol; 1999 Oct; 31(10):1153-67. PubMed ID: 10582344
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Structure of the Mitochondrial Aminolevulinic Acid Synthase, a Key Heme Biosynthetic Enzyme.
    Brown BL; Kardon JR; Sauer RT; Baker TA
    Structure; 2018 Apr; 26(4):580-589.e4. PubMed ID: 29551290
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Unstable reaction intermediates and hysteresis during the catalytic cycle of 5-aminolevulinate synthase: implications from using pseudo and alternate substrates and a promiscuous enzyme variant.
    Stojanovski BM; Hunter GA; Jahn M; Jahn D; Ferreira GC
    J Biol Chem; 2014 Aug; 289(33):22915-22925. PubMed ID: 24920668
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.
    Balwani M; Doheny D; Bishop DF; Nazarenko I; Yasuda M; Dailey HA; Anderson KE; Bissell DM; Bloomer J; Bonkovsky HL; Phillips JD; Liu L; Desnick RJ;
    Mol Med; 2013 Apr; 19(1):26-35. PubMed ID: 23364466
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Delta-aminolevulinic acid synthase 2 expression in combination with iron as modifiers of disease severity in erythropoietic protoporphyria.
    Barman-Aksözen J; Halloy F; Iyer PS; Schümperli D; Minder AE; Hall J; Minder EI; Schneider-Yin X
    Mol Genet Metab; 2019 Nov; 128(3):304-308. PubMed ID: 31076252
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. 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]  

  • 37. A Novel g.55040074delT in ALAS2 Gene Resulting in a Monomeric Protein and Severe Sideroblastic Anemia Phenotype.
    Bhatia P; Singh A; Hedge A
    J Pediatr Hematol Oncol; 2017 Aug; 39(6):463-465. PubMed ID: 28731922
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [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]  

  • 39. 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]  

  • 40. X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation.
    Sankaran VG; Ulirsch JC; Tchaikovskii V; Ludwig LS; Wakabayashi A; Kadirvel S; Lindsley RC; Bejar R; Shi J; Lovitch SB; Bishop DF; Steensma DP
    J Clin Invest; 2015 Apr; 125(4):1665-9. PubMed ID: 25705881
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.