| 1 | ALAS2, ASB, SUCLA2
|
| 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 287(34):28943-55. doi: 10.1074/jbc.M111.306423. Epub 2012 Jun 27.
2012
|
| 2 | ALAS2, ASB
|
| 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 32(6):590-7. doi: 10.1002/humu.21455. Epub 2011 Feb 24.
2011
|
| 3 | ALAS2
|
| 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 118(6):1443-51. Epub 2011 Jun 7.
2011
|
| 4 | ALAS2, ASB
|
| Hypoxia induces erythroid-specific 5-aminolevulinate synthase expression in human erythroid cells through transforming growth factor-beta signaling.
|
| Kaneko K, Furuyama K, Aburatani H, Shibahara S.
|
| FEBS J 276(5):1370-82.
2009
|
| 5 | ALAS2, EPPX
|
| 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 83(3):408-14. Epub 2008 Sep 4.
2008
|
| 6 | ALAS2
|
| The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesis.
|
| Cox TC, Sadlon TJ, Schwarz QP, Matthews CS, Wise PD, Cox LL, Bottomley SS, May BK.
|
| Int J Biochem Cell Biol 36(2):281-95. 2004
|
| 7 | ALAS2, ASB
|
| 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 102(2):698-704. Epub 2003 Mar 27. 2003
|
| 8 | ALAS2, ASB
|
| Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.
|
| Cotter PD, et al.
|
| Blood 93(5):1757-69. 1999
|
| 9 | ALAS2, ASB
|
| A novel mutation of the erythroid-specific delta-aminolaevulinate synthase gene in a patient with X-linked sideroblastic anaemia.
|
| Harigae H, et al.
|
| Br J Haematol 106(1):175-7 1999
|
| 10 | ALAS2
|
| A novel mutation of the erythroid-specific gamma-Aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia.
|
| Harigae H, Furuyama K, Kudo K, Hayashi N, Yamamoto M, Sassa S, Sasaki T.
|
| Am J Hematol 62(2):112-4. 1999
|
| 11 | ALAS2, ASB
|
| Hereditary sideroblastic anaemia due to a mutation in exon 10 of the erythroid 5-aminolaevulinate synthase gene.
|
| Edgar AJ, Wickramasinghe SN.
|
| Br J Haematol 100(2):389-92. 1998
|
| 12 | ALAS2
|
| Identification and characterization of a conserved erythroid-specific enhancer located in intron 8 of the human 5-aminolevulinate synthase 2 gene.
|
| Surinya KH, et al.
|
| J Biol Chem 273 : 16798-16809. 1998
|
| 13 | ALAS2, ASB
|
| X-linked sideroblastic anaemia due to a mutation in the erythroid 5-aminolaevulinate synthase gene leading to an arginine 170 to leucine substitution.
|
| Edgar AJ, Vidyatilake HM, Wickramasinghe SN.
|
| Eur J Haematol 61 : 55-58. 1998
|
| 14 | ALAS2, ASB
|
| R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity.
|
| Furuyama K, et al.
|
| Br J Haematol 103 : 839-841. 1998
|
| 15 | ALAS2, ASB
|
| Identification of an arginine452 to histidine substitution in the erythroid 5-aminolaevulinate synthetase gene in a large pedigree with X-linked hereditary sideroblastic anaemia.
|
| Edgar AJ, et al.
|
| Eur J Haematol 58 : 1-4. 1997
|
| 16 | ALAS2, ASB
|
| Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene.
|
| Furuyama K, Fujita H, Nagai T, Yomogida K, Munakata H, Kondo M, Kimura A, Kuramoto A, Hayashi N, Yamamoto M.
|
| Blood 90(2):822-30. 1997
|
| 17 | ASB, ALAS2
|
| 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, et al.
|
| J Clin Invest 96 : 2090-2096. 1995
|
| 18 | ASB, ALAS2
|
| A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia.
|
| Prades E, et al.
|
| Hum Genet 95 : 424-428. 1995
|
| 19 | ALAS2
|
| Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance : exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis.
|
| Jardine PE, et al.
|
| J Med Genet 31 : 213-218. 1994
|
| 20 | ASB, ALAS2
|
| 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, et al.
|
| Blood 84 : 3915-3924. 1994
|
| 21 | ALAS2
|
| Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X;autosome translocations.
|
| Cotter PD, et al.
|
| Genomics 13 : 211-212. 1992
|
| 22 | ASAT, ASB, ALAS2
|
| 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, et al.
|
| Hum Mol Genet 1 : 639-641. 1992
|
| 23 | ALAS2
|
| Human erythroid 5-aminolevulinate synthase. Gene structure and species-specific differences in alternative RNA splicing.
|
| Conboy JG, et al.
|
| J Biol Chem 267 : 18753-18758. 1992
|
| 24 | ALAS1, ALAS2
|
| Human delta-aminolevulinate synthase : assignement of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome.
|
| Bishop DF, et al.
|
| Genomics 7 : 207-214. 1990
|
| 25 | ALAS2
|
| Erythroid 5-aminolevulinate synthase is located on the X chromosome.
|
| Cox TC, et al.
|
| Am J Hum Genet 46 : 107-111. 1990
|
| 26 | ALAS2
|
| Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to the X chromosome.
|
| Astrin KH, et al.
|
| Cytogenet Cell Genet 51 : 953-954. 1989
|
| 27 | ASB, ALAS2
|
| Three patients with structurally abnormal X chromosomes, each with Xq13 breakpoints and a history of idiopathic acquired sideroblastic anemia.
|
| Dewald GW, et al.
|
| Blood 59 : 100-105. 1985
|
| 28 | ALAS2
|
| Delta-aminolevulinic acid synthetase in erythroblasts of patients with primary sideroblastic anaemia.
|
| Aoki Y, et al.
|
| Acta Haematol Jpn 36 : 74-77. 1973
|