Results 101 to 110 of about 8,373,614 (131)
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Animal models for X-linked sideroblastic anemia.
International journal of hematology, 2000Erythroid 5-aminolevulinate synthase (ALAS-E) catalyzes the first step of heme biosynthesis in erythroid cells. Several lines of evidence suggest that the expression of ALAS-E is important for the process of erythroid differentiation, which requires a large amount of heme for hemoglobin production.
M, Yamamoto, O, Nakajima
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A New ALAS2 Mutation Inducing a Male Lethal X-Linked Sideroblastic Anemia
Blood, 2013Abstract X-linked Sideroblastic Anemia (XLSA, MIM# 300751) is due to mutations in the erythroid-specific form of 5-aminolevulinate synthase (ALAS2) gene. Main features of this condition are microcytic anemia, iron deposits in the mitochondria of erythroid precursors (ring sideroblasts) and an X linked pattern of inheritance.
Christian Rose +7 more
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X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13.
American journal of human genetics, 1991Molecular linkage analysis was performed on a kindred with X-linked sideroblastic anemia and ataxia. Two-point analysis with a DNA probe for phosphoglycerate kinase (PGK1), which maps to Xq13, suggested linkage to the disorder by a lod score of at least 2.60 at a recombination fraction of zero.
W H, Raskind +6 more
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[A novel mutation of the ALAS2 gene in a family with X-linked sideroblastic anemia].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi, 2003To confirm the mutation of ALAS2 gene is the cause of sideroblastic anemia in a family.Polymerase chain reaction (PCR) was used to amplify the microsatellite DXS 991, DXS 1199 in the chromosome Xp11.22 linked gene ALAS2 and haplotype analysis was performed in a kindred with 2 patients and 7 normal members.
P, Zhu, D, Bu
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Erythroid 5-aminolevulinate synthase and X-linked sideroblastic anemia.
The Journal of the Florida Medical Association, 1994Heme is an essential prosthetic group in proteins involved in electron and oxygen transport. It can exert regulatory roles at the translational level of some eukaryotic mRNAs and at the transcriptional level of certain genes by controlling the DNA binding of some transcription factors.
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[Construction of recombinant vector expressing ALAS2 gene in X-linked sideroblastic anemia].
Zhongguo shi yan xue ye xue za zhi, 2005X-linked sideroblastic anemia (XLSA) is caused by mutations of erythroid-specific 5-aminolevulinate synthetase (ALAS2) gene. In this study a eukaryotic expression vector of ALAS2 was constructed and transfected into eukaryotic cells to observe the expression of ALAS2 gene.
Yi-Qun, Wang +6 more
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Pediatric Blood & Cancer
ABSTRACT X‐linked sideroblastic anemia (XLSA) is categorized as hypochromic microcytic anemia. In 3 children with XLSA, we observed prominent elliptocytosis, and red cell band 3 content histograms were similar to those found in hereditary elliptocytosis, thus validating Cooley's descriptions in 1945.
Alex Ciurej +5 more
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ABSTRACT X‐linked sideroblastic anemia (XLSA) is categorized as hypochromic microcytic anemia. In 3 children with XLSA, we observed prominent elliptocytosis, and red cell band 3 content histograms were similar to those found in hereditary elliptocytosis, thus validating Cooley's descriptions in 1945.
Alex Ciurej +5 more
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American journal of human genetics, 1988
The gene for 5-aminolevulinate synthase (ALAS) has been mapped to 3pter-3q13.2 by Southern blot hybridization analysis of a mouse/human hybrid cell panel. In situ hybridization maps the gene to 3p21, distal to the common fragile site at 3p14.2 (FRA3B). The mapping of this gene to an autosome makes it improbable that it is the site of the primary defect
G R, Sutherland +7 more
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The gene for 5-aminolevulinate synthase (ALAS) has been mapped to 3pter-3q13.2 by Southern blot hybridization analysis of a mouse/human hybrid cell panel. In situ hybridization maps the gene to 3p21, distal to the common fragile site at 3p14.2 (FRA3B). The mapping of this gene to an autosome makes it improbable that it is the site of the primary defect
G R, Sutherland +7 more
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Luspatercept as Potential Treatment for Congenital Sideroblastic Anemia
New England Journal of Medicine, 2023Ruben Van Dijck
exaly
Novel mutations in the ALAS2 gene from patients with X‐linked sideroblastic anemia
International Journal of Laboratory Hematology, 2020Jing Li, Long Chen, Yani Lin, Kun Ru
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