Results 11 to 20 of about 3,045 (154)

Loss of Function of mtHsp70 Chaperone Variants Leads to Mitochondrial Dysfunction in Congenital Sideroblastic Anemia [PDF]

Frontiers in Cell and Developmental Biology, 2022
Congenital Sideroblastic Anemias (CSA) is a group of rare genetic disorders characterized by the abnormal accumulation of iron in erythrocyte precursors.
Vinaya Vishwanathan, Patrick D’Silva
doaj   +2 more sources

Case report: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay: Three cases and a literature review [PDF]

Frontiers in Pediatrics, 2023
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is a serious autosomal recessive syndrome caused by biallelic mutations in cytosine–cytosine–adenosine tRNA nucleotidyltransferase 1 (TRNT1).
Xiangyuan Chen, Fang Fu, Xiaolan Mo, Suyun Cheng, Huasong Zeng   +4 more
doaj   +2 more sources

Severe pulmonary arterial hypertension in congenital sideroblastic anemia from PUS1 mutation – a case report [PDF]

BMC Medical Genomics
Background Myopathy, lactic acidosis and inherited sideroblastic anemia (MLASA) are a group of rare intriguing disorders with wider pathophysiological implications.
Shyam S. Kothari, Jayal Shah, Vishal Sharma, Riyaz Charaniya, Rujuta Parikh, Salil N. Vaniawala   +5 more
doaj   +2 more sources

A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man [PDF]

BMC Medical Genomics, 2021
Background X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia (CSA), and is associated with the mutations in the 5-aminolevulinate synthase 2 (ALAS2).
Jinbo Huang, Meili Ge, Yingqi Shao, Min Wang, Peng Jin, Jiali Huo, Xingxin Li, Jing Zhang, Neng Nie, Yizhou Zheng   +9 more
doaj   +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

A novel frameshift deletion in SLC25A38 and its role in mitochondrial dysfunction: A case study of sideroblastic anemia in a child from Iran [PDF]

Annals of Hematology
Sideroblastic anemia (SA) is a rare hematological condition characterized by the accumulation of iron in the mitochondria of erythroid precursor cells, resulting in the formation of sideroblastic rings. It occurs in both inherited and acquired forms.
Elaheh Hasani, Maryam Naghinejad, Moein Kohkalani, Sima Mansoori Derakhshan, Mahmoud Shekari Khaniani   +4 more
doaj   +2 more sources

Drug-induced severe sideroblastic anemia following combined olanzapine and fluvoxamine therapy: a case report [PDF]

Frontiers in Psychiatry
Olanzapine and fluvoxamine are commonly used psychotropic medications for treating anxiety and depressive disorders, particularly in cases with psychotic symptoms or treatment-resistant presentations.
Xinru Zhang, Anan Zhang, Jinmei Zhang, Dandan Hu   +3 more
doaj   +2 more sources

Case report: A novel 11-bp deletion in exon 11 causing a frameshift in the C-terminal of the ALAS2 gene leading to X-linked sideroblastic anemia—a family study [PDF]

Frontiers in Medicine
X-linked sideroblastic anemia (XLSA) (MIM 300752) is the most common genetic form of sideroblastic anemia, a heterogeneous group of disorders characterized by iron deposits in the mitochondria of erythroid precursors.
Salam Al kindi, Salam Al kindi, Altaf Al-Mamari, Shoaib Al-Zadjali, Mohamed Al-Rawahi, Ali Al Madhani, Anil V. Pathare   +6 more
doaj   +2 more sources

Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis [PDF]

Scientific Reports, 2022
X-linked sideroblastic anemia (XLSA), the most common form of congenital sideroblastic anemia, is caused by a germline mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene.
Koya Ono, Tohru Fujiwara, Kei Saito, Hironari Nishizawa, Noriyuki Takahashi, Chie Suzuki, Tetsuro Ochi, Hiroki Kato, Yusho Ishii, Koichi Onodera, Satoshi Ichikawa, Noriko Fukuhara, Yasushi Onishi, Hisayuki Yokoyama, Rie Yamada, Yukio Nakamura, Kazuhiko Igarashi, Hideo Harigae   +17 more
doaj   +2 more sources

A case report of congenital sideroblastic anemia caused by a novel ALAS2 mutation in conjunction with thalassemia [PDF]

Annals of Hematology
Background Congenital sideroblastic anemia (CSA) and thalassemia are both hereditary disorders of erythropoiesis, primarily affecting erythroid cells. Their typical manifestations include anemia and iron overload. In this study, we conducted clinical and
Zhi-Xiao Chen, Li-Ye Yang, Liang-Tuo Wang, Bao-Ying Chen, Jian-Lian Liang, Li-Li Liu, Xiao-Hua Yu   +6 more
doaj   +2 more sources