Results 31 to 40 of about 288,483 (243)

Case Report: Expanding Clinical, Immunological and Genetic Findings in Sideroblastic Anemia With Immunodeficiency, Fevers and Development Delay (SIFD) Syndrome. [PDF]

Front Immunol, 2021
Since the first description of the syndrome of sideroblastic anemia with immunodeficiency, fevers and development delay (SIFD), clinical pictures lacking both neurological and hematological manifestations have been reported.
Mendonca LO, Prado AI, Costa IMC, Bandeira M, Dyer R, Barros SF, Khöler KF, Fonseca LAM, Kalil J, Castro FM, Toledo-Barros MAM.   +10 more
europepmc   +2 more sources

Highly efficient gene editing and single cell analysis of hematopoietic stem/progenitor cells from X-linked sideroblastic anemia patients. [PDF]

Signal Transduct Target Ther, 2021
Dear Editor, X-linked sideroblastic anemia (XLSA), which is the most common genetic form of congenital sideroblastic anemia, is typically characterized by reduced heme synthesis and the presence of bone marrow (BM) ring sideroblasts containing pathologic
Fang R, Zhang J, Yang H, Shi J, Zeng H, Zhu X, Wei D, Yuan P, Cheng T, Cheng T, Zhang Y.   +10 more
europepmc   +2 more sources

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2 [PDF]

Haematologica, 2018
YARS2 variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2). YARS2 encodes the mitochondrial tyrosyl-tRNA synthetase, which is responsible for conjugating tyrosine to its cognate mt-tRNA ...
Lisa G. Riley, Matthew M. Heeney, Joëlle Rudinger-Thirion, Magali Frugier, Dean R. Campagna, Ronghao Zhou, Gregory A. Hale, Lee M. Hilliard, Joel A. Kaplan, Janet L. Kwiatkowski, Colin A. Sieff, David P. Steensma, Alexander J. Rennings, Annet Simons, Nicolaas Schaap, Richard J. Roodenburg, Tjitske Kleefstra, Leonor Arenillas, Josep Fita-Torró, Rasha Ahmed, Miguel Abboud, Elie Bechara, Roula Farah, Rienk Y. J. Tamminga, Sylvia S. Bottomley, Mayka Sanchez, Gerwin Huls, Dorine W. Swinkels, John Christodoulou, Mark D. Fleming   +29 more
doaj   +2 more sources

Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia. [PDF]

Blood Adv, 2022
Key Points A patient-derived iPSC model recapitulates defective erythroid maturation in female XLSA. Azacitidine reactivates the silent wild-type ALAS2 allele and ameliorates inefficient erythropoiesis in iPSC-derived HPCs from female XLSA.
Morimoto Y, Chonabayashi K, Kawabata H, Okubo C, Yamasaki-Morita M, Nishikawa M, Narita M, Inagaki A, Nakanishi K, Nagao M, Takaori-Kondo A, Yoshida Y.   +11 more
europepmc   +2 more sources

Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia

Haematologica, 2014
Erythroid-specific 5-aminolevulinate synthase (ALAS2) is the rate-limiting enzyme for heme biosynthesis in erythroid cells, and a missense mutation of the ALAS2 gene is associated with congenital sideroblastic anemia.
Kiriko Kaneko, Kazumichi Furuyama, Tohru Fujiwara, Ryoji Kobayashi, Hiroyuki Ishida, Hideo Harigae, Shigeki Shibahara   +6 more
doaj   +3 more sources

A RARE CAUSE OF SIDEROBLASTIC ANEMIA: TRNT1 MUTATION

Hematology, Transfusion and Cell Therapy, 2021
Case report: tRNA nucleotidyltransferase 1(TRNT1) gene encodes a polymerase involved in the maturation of cytosolic and mitochondrial transfer RNAs. Autosomal recessive loss of function mutations of TRNT1 leads sideroblastic anemia, immunodeficiency ...
Fatma Tuba YILDIRIM, Elif Benderlioğlu, Dilek Kaçar, Neşe Yaralı   +3 more
doaj   +2 more sources

Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia. [PDF]

J Clin Invest, 2020
The congenital sideroblastic anemias (CSAs) can be caused by primary defects in mitochondrial iron-sulfur cluster (Fe-S) biogenesis. HSCB (heat shock cognate B), which encodes a mitochondrial co-chaperone, also known as HSC20 (heat shock cognate protein ...
Crispin A, Guo C, Chen C, Campagna DR, Schmidt PJ, Lichtenstein D, Cao C, Sendamarai AK, Hildick-Smith GJ, Huston NC, Boudreaux J, Bottomley SS, Heeney MM, Paw BH, Fleming MD, Ducamp S.   +15 more
europepmc   +2 more sources

Luspatercept enhances hemoglobin levels in a Chinese boy with congenital sideroblastic anemia: A case report. [PDF]

World J Clin Cases
BACKGROUND: Congenital sideroblastic anemia (CSA) is a rare and heterogeneous group of genetic disorders. Conventional treatment include pyridoxine (vitamin B6) and allogeneic hematopoietic stem cell transplantation (allo-HSCT), and can alleviate anemia ...
Li Y, Ye L, Zhou K, Fan HH, Li JP, Xiong YZ, Yang Y, Peng GX, Yang WR, Zhao X, Jing LP, Zhang L, Zhang FK.   +12 more
europepmc   +3 more sources

Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up [PDF]

Molecular Genetics and Metabolism Reports, 2019
Mitochondrial myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1) is a rare disease caused by biallelic pathogenic variants in the PUS1 gene. There are eleven MLASA1 patients reported worldwide with the majority of the patients originating from
Jeremy Woods, Stephen Cederbaum
doaj   +2 more sources

A Case of Hereditary Sideroblastic Anemia [PDF]

The Korean Journal of Hematology, 2005
□Case Report □󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏Correspondence to：Chan-Jeoung Park, M.D.Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center 388-1 Pungnap 2-dong, Songpa-gu, Seoul 138-736, KoreaTel: +82-2-3010-4508, Fax: +82-2-478-0884E-mail: cjpark@amc.seoul.kr 󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏
S. Jang, Y.-H. Sohn, Kyung-Ran Jun, Jong-Jin Seo, Chan-Jeoung Park, Hyun-Sook Chi   +5 more
openaire   +3 more sources