1 |
The idic(X)(q13) in myeloid malignancies: breakpoint clustering in segmental duplications and association with TET2 mutations.
61
54
|
Paulsson K...MDS Foundation
|
20093295 |
2010 |
2 |
Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation.
61
54
|
Kakhlon O...Cabantchik ZI
|
20393584 |
2010 |
3 |
Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.
54
61
|
Bergmann AK...Neufeld EJ
|
19731322 |
2010 |
4 |
Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment.
54
61
|
Camaschella C
|
19786205 |
2009 |
5 |
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.
61
54
|
Whatley SD...Puy H
|
18760763 |
2008 |
6 |
The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts.
61
54
|
Boultwood J...Wainscoat JS
|
18398482 |
2008 |
7 |
The effects of frataxin silencing in HeLa cells are rescued by the expression of human mitochondrial ferritin.
61
54
|
Zanella I...Arosio P
|
18160053 |
2008 |
8 |
Multi-organ iron overload in an African-American man with ALAS2 R452S and SLC40A1 R561G.
61
54
|
Sussman NL...Barton JC
|
19066423 |
2008 |
9 |
X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns.
54
61
|
Aivado M...Bottomley SS
|
16735131 |
2006 |
10 |
Biosynthesis of heme in mammals.
54
61
|
Ajioka RS...Kushner JP
|
16839620 |
2006 |
11 |
Transgenic rescue of erythroid 5-aminolevulinate synthase-deficient mice results in the formation of ring sideroblasts and siderocytes.
54
61
|
Nakajima O...Yamamoto M
|
16716198 |
2006 |
12 |
Strategies for biology- and molecular-based treatment of myelodysplastic syndromes.
54
61
|
Lindberg EH
|
16178803 |
2005 |
13 |
[Progress of study on sideroblastic anemia and its possible gene therapy--review].
61
54
|
Wang YQ...Zhu P
|
15972158 |
2005 |
14 |
Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation.
61
54
|
Patton JR...Fischel-Ghodsian N
|
15772074 |
2005 |
15 |
Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene.
61
54
|
Zeharia A...Lerman-Sagie T
|
15971356 |
2005 |
16 |
Onset of X-linked sideroblastic anemia in the fourth decade.
54
61
|
Cortesao E...Tamagnini G
|
15477213 |
2004 |
17 |
[Construction of recombinant vector expressing ALAS2 gene in X-linked sideroblastic anemia].
54
61
|
Wang YQ...Zhang Y
|
15498136 |
2004 |
18 |
The expression of human mitochondrial ferritin rescues respiratory function in frataxin-deficient yeast.
54
61
|
Campanella A...Levi S
|
15282205 |
2004 |
19 |
Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).
54
61
|
Bykhovskaya Y...Fischel-Ghodsian N
|
15108122 |
2004 |
20 |
[Genetics of hereditary iron overload].
61
54
|
Le Gall JY...David V
|
15506716 |
2004 |
21 |
A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.
61
54
|
Bekri S...Bishop DF
|
12663458 |
2003 |
22 |
Late-onset X-linked sideroblastic anemia following hemodialysis.
54
61
|
Furuyama K...Sassa S
|
12531813 |
2003 |
23 |
Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase.
61
54
|
Taketani S...Furukawa T
|
12480705 |
2003 |
24 |
Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia.
61
54
|
Cazzola M...Arosio P
|
12406866 |
2003 |
25 |
Granulocyte colony-stimulating factor inhibits spontaneous cytochrome c release and mitochondria-dependent apoptosis of myelodysplastic syndrome hematopoietic progenitors.
61
54
|
Tehranchi R...Hellstrom-Lindberg E
|
12393561 |
2003 |
26 |
Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J-type co-chaperone.
54
61
|
Sun G...Vickery LE
|
12938016 |
2003 |
27 |
Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation.
61
54
|
Cazzola M...Bishop DF
|
12393718 |
2002 |
28 |
The genetics of inherited sideroblastic anemias.
61
54
|
Fleming MD
|
12382202 |
2002 |
29 |
Absence of mitochondrial superoxide dismutase results in a murine hemolytic anemia responsive to therapy with a catalytic antioxidant.
61
54
|
Friedman JS...Burakoff SJ
|
11304553 |
2001 |
30 |
Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females.
61
54
|
Cazzola M...Bishop DF
|
11110715 |
2000 |
31 |
[A novel mutation of the ALAS2 gene in a family with X-linked sideroblastic anemia].
54
61
|
Zhu P...Bu D
|
11877024 |
2000 |
32 |
Animal models for X-linked sideroblastic anemia.
54
61
|
Yamamoto M...Nakajima O
|
11039663 |
2000 |
33 |
Heme deficiency in erythroid lineage causes differentiation arrest and cytoplasmic iron overload.
61
54
|
Nakajima O...Yamamoto M
|
10562540 |
1999 |
34 |
A novel mutation of the erythroid-specific gamma-Aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia.
54
61
|
Harigae H...Sasaki T
|
10577279 |
1999 |
35 |
Regulation of erythroid 5-aminolevulinate synthase expression during erythropoiesis.
54
61
|
Sadlon TJ...May BK
|
10582344 |
1999 |
36 |
[An infant case of sideroblastic anemia that responded to oral pyridoxine].
54
61
|
Kudo K...Kojima S
|
10496043 |
1999 |
37 |
Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).
61
54
|
Allikmets R...Koeller DM
|
10196363 |
1999 |
38 |
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.
61
54
|
Cotter PD...Bishop DF
|
10029606 |
1999 |
39 |
Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene.
61
54
|
Furuyama K...Yamamoto M
|
9226183 |
1997 |
40 |
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.
61
54
|
Cotter PD...Bishop DF
|
7560104 |
1995 |
41 |
A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia.
54
61
|
Prades E...Grandchamp B
|
7705839 |
1995 |
42 |
5-Aminolevulinate synthase and the first step of heme biosynthesis.
54
61
|
Ferreira GC...Gong J
|
7592562 |
1995 |
43 |
Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia.
61
54
|
Bottomley SS...Bishop DF
|
7592563 |
1995 |
44 |
X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley.
61
54
|
Cotter PD...Bishop DF
|
7949148 |
1994 |
45 |
X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase.
54
61
|
Cox TC...May BK
|
8107717 |
1994 |
46 |
Erythroid 5-aminolevulinate synthase and X-linked sideroblastic anemia.
54
61
|
Ferreira GC
|
8089650 |
1993 |
47 |
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.
61
54
|
Cox TC...Mulley JC
|
1301172 |
1992 |
48 |
5-Aminolevulinate synthase in sideroblastic anemias: mRNA and enzyme activity levels in bone marrow cells.
61
54
|
Bottomley SS...May BK
|
1415186 |
1992 |
49 |
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.
54
61
|
Cotter PD...Bishop DF
|
1577484 |
1992 |
50 |
Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome.
61
54
|
Bishop DF...Astrin KH
|
2347585 |
1990 |