Results 141 to 150 of about 1,366 (166)

Sekvenování genu ALAS2

2021
In my bachelor thesis I dealt with the detection of mutations in the ALAS2. In the theoretical part, I dealt with the introduction to genetic concepts and the field of genetics itself. The work begins from the cell itself, to the chromosomes, through mutations. I also dealt directly with the ALAS2 gene.
openaire   +1 more source

A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia

Clinica Chimica Acta, 2002
Mutations in the erythroid-specific 5-aminolevulinate-synthase gene (ALAS2) have been identified in many cases of X-linked sideroblastic anemia (XLSA).A polymerase chain reaction-mediated restriction fragment length polymorphism (RFLP) assay was used.A G527T point mutation was identified.
Matthew T, Hurford, Cristina, Marshall-Taylor, Sandy L, Vicki, Jackie Z, Zhou, Lawrence M, Silverman, William N, Rezuke, Arnold, Altman, Gregory J, Tsongalis   +7 more
openaire   +2 more sources

A New ALAS2 Mutation Inducing a Male Lethal X-Linked Sideroblastic Anemia

Blood, 2013
Abstract 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, Claire Oudin, Martine Fournier, Alexandre Bouquet, Luca Inchiappa, Bernard Grandchamp, Laurent Gouya, Caroline Kannengiesser   +7 more
openaire   +1 more source

Multi-organ iron overload in an African-American man with ALAS2 R452S and SLC40A1 R561G.

Acta haematologica, 2009
X-linked sideroblastic anemia (XLSA) is associated with iron overload and mutations in ALAS2, which encodes 5-aminolevulinate synthase. There are few reports of XLSA in persons of sub-Saharan African descent.A 47-year-old African-American man had microcytic anemia, elevated iron measures, cardiomyopathy, hepatic cirrhosis, diabetes mellitus, a history ...
Norman L, Sussman, Pauline L, Lee, Andrew M, Dries, Mary R, Schwartz, James C, Barton   +4 more
openaire   +2 more sources

Missense variants in ALAS2 gene in five patients

International Journal of Laboratory Hematology, 2018
Sideroblastic anemias (SAs) are a heterozygous group of disorders characterized by the presence of ring sideroblasts in the bone marrow. Congenital sideroblastic anemias are syndromic and nonsyndromic and caused by pathogenic variants in genes involved ...
María-Isabel Moreno-Carralero, Beatriz Arrizabalaga-Amuchastegui, Jorge Sánchez-Calero-Guilarte, M. Morado-Arias, A. Velasco-Valdazo, Silvia de-la-Iglesia-Íñigo, M. Méndez, M. Morán-Jiménez   +7 more
semanticscholar   +1 more source

A Novel g.55040074delT in ALAS2 Gene Resulting in a Monomeric Protein and Severe Sideroblastic Anemia Phenotype

Journal of Pediatric Hematology/Oncology, 2017
Sideroblastic anemias are a rare group of disorders resulting from defective iron incorporation during heme synthesis and hence characterized by anemia and presence of ringed sideroblasts in bone marrow. The most common form is an X-linked disorder caused by mutations in ALAS2 gene.
Prateek, Bhatia, Aditya, Singh, Avani, Hedge   +2 more
openaire   +2 more sources

Molecular Characterization and Novel Therapeutic Strategy for X-Linked Sideroblastic Anemia Associated with ALAS2 Missense Variants

Blood, 2019
Background: Congenital sideroblastic anemia (CSA) is an inherited anemia characterized by the presence of ring sideroblasts (RSs) in bone marrow. X-linked sideroblastic anemia (XLSA) is the most common form of CSA and is caused by germline mutations in ...
K. Ono, Tohru Fujiwara, Kei Saito, Chie Suzuki, Noriyuki Takahashi, Koichi Onodera, S. Ichikawa, N. Fukuhara, Yasushi Onishi, Hisayuki Yokoyama, Yukio Nakamura, H. Harigae   +11 more
semanticscholar   +1 more source

[A novel mutation of the ALAS2 gene in a family with X-linked sideroblastic anemia].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi, 2003
To 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
openaire   +1 more source

METTL3-modified lncRNA-SNHG8 binds to PTBP1 to regulate ALAS2 expression to increase oxidative stress and promote myocardial infarction

Molecular and Cellular Biochemistry, 2022
Juan Tang, Qi Tang, Shan Liu
semanticscholar   +1 more source

C-terminal deletion in the ALAS2 gene and X-linked dominant protoporphyria

2009
We examined the gene expression profiles of two independent cohorts of patients with acute myeloid leukemia [n=247 and n=214 (younger than or equal to 60 years)] to study the applicability of gene expression profiling as a single assay in prediction of acute myeloid leukemia-specific molecular subtypes.
E. Di Pierro, V. Brancaleoni, D. Tavazzi, M.D. Cappellini   +3 more
openaire   +3 more sources