Results 31 to 40 of about 8,373,614 (131)
Haematologica, 2019 Loss-of-function mutations in the ATP-binding cassette (ABC) transporter of the inner mitochondrial membrane, ABCB7, cause X-linked sideroblastic anemia with ataxia, a phenotype that remains largely unexplained by the proposed role of ABCB7 in exporting ...
Nunziata Maio +4 more
doaj +1 more source
CRISPR/Cas9‐Mediated Correction of the SLC25A38 Mutation in a Patient With Sideroblastic Anemia
The Journal of Gene Medicine, Volume 28, Issue 10, October 2026.In this study, the identity of fibroblast cells isolated from the patient was identified using several methods. Then, the sgRNA3‐pX459 plasmid together with ssODN was transfected into fibroblast cells with a transfection efficiency of 49.64%. Finally, the entry of ssODN donor into fibroblast cells was confirmed using PCR‐RFLP and PAGE methods. ABSTRACT
Shokoufeh Yazdanparast +4 more
wiley +1 more source
, 2014 An image from a peripheral blood smear showing numerous tear cells in sideroblastic ...
Fraser, Marion
core +1 more source
British Journal of Haematology, Volume 209, Issue 4, Page 1469-1481, October 2026.Gene therapy is revolutionizing treatment paradigms for haemoglobinopathies, establishing a translational framework for disorders that impact red blood cell development. In their paper, Joshi et al. describe the preclinical and early clinical landscape of gene therapies for non‐haemoglobinopathy erythroid disorders and highlight common thematic ...
Gaurav Joshi +3 more
wiley +1 more source
, 2014 A peripheral blood smear picture showing a dimorphic RBC population and tear cells in sideroblastic ...
Fraser, Marion
core +1 more source
, 2023 Key Clinical Message Dolutegravir, the most recent antiretroviral drug with high efficacy, good tolerability, infrequent drug–drug interactions, and a favorable safety profile has not been reported in current literature as a cause of acquired ...
Divas Adhikari +9 more
core +1 more source
HemaSphere, Volume 10, Issue 9, September 2026.Abstract Microcytic anemia is among the most common hematological abnormalities in clinical practice and is usually attributable to iron deficiency, thalassemia traits, or anemia of inflammation. A small but clinically important subset of patients, however, has inherited disorders of iron metabolism or heme synthesis presenting with persistent ...
Alexandros Makis +2 more
wiley +1 more source
Ring sideroblasts and sideroblastic anemias
, 2011 The sideroblastic anemias include both hereditary and acquired conditions. The two most common forms of congenital sideroblastic anemia, i.e. the X-linked form due to an ALAS2 mutation and the autosomal recessive form due to SLC25A38 mutations, have ...
CAZZOLA, MARIO +3 more
core +1 more source
Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia [PDF]
, 2016 Sideroblastic anemias are acquired or inherited anemias that result in a decreased ability tosynthesize hemoglobin in red blood cells and result in the presence of iron deposits in themitochondria of red blood cell precursors.
Liwski Robert S. +10 more
core +3 more sources
FEBS Open Bio, 2015 5‐Aminolevulinate synthase (ALAS) catalyzes the initial step of mammalian heme biosynthesis, the condensation between glycine and succinyl‐CoA to produce CoA, CO2, and 5‐aminolevulinate. The crystal structure of Rhodobacter capsulatus ALAS indicates that
Bosko M. Stojanovski, Gloria C. Ferreira
doaj +1 more source