Results 31 to 40 of about 2,906 (149)

Exploring the mechanistic link between SF3B1 mutation and ring sideroblast formation in myelodysplastic syndrome

Scientific Reports, 2022
Acquired sideroblastic anemia, characterized by bone marrow ring sideroblasts (RS), is predominantly associated with myelodysplastic syndrome (MDS). Although somatic mutations in splicing factor 3b subunit 1 (SF3B1), which is involved in the RNA splicing
Tetsuro Ochi, Tohru Fujiwara, Koya Ono, Chie Suzuki, Maika Nikaido, Daichi Inoue, Hiroki Kato, Koichi Onodera, Satoshi Ichikawa, Noriko Fukuhara, Yasushi Onishi, Hisayuki Yokoyama, Yukio Nakamura, Hideo Harigae   +13 more
doaj   +1 more source

Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder

Frontiers in Pediatrics, 2023
The TRNT1 gene encodes tRNA nucleotidyltransferase 1, which catalyzes the addition of cytosine-cytosine-adenosine (CCA) to the ends of cytoplasmic and mitochondrial tRNAs.
Cui-Jie Wei, Yi-Dan Liu, Yan-Ling Yang, Yuan Wu, Jie-Yu Liu, Xing-Zhi Chang, Ying Hua, Yu-He Liu, Hui Xiong   +8 more
doaj   +1 more source

Heavy Metal Contamination in Chocolates and Candies: Sources, Health Risks, and Analytical Insights

Journal of Chemistry, Volume 2026, Issue 1, 2026.
The presence of heavy metals in chocolates and candies poses growing public health concerns, particularly for children who are frequent consumers. This review consolidates evidence on the occurrence, sources, toxicological impacts, and analytical monitoring of metals, including Pb, Cd, Hg, As, Cr, Ni, and Al, in confectionery products.
Mahmood Ahmed, Maryam, Ali Abbas Aslam, Fatima Aftab, Ahmad Saeed, Mudassar Sanaullah, Muhammad Hassan, Riaz Hussain, Eisha Eiman, Masooma Irfan, Muhammad Yaseen, Muhammad Zaeem Mehdi, Sohini Basu Roy   +12 more
wiley   +1 more source

Removal of Toxic Metabolites—Chelation: Manganese Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Manganese (Mn) overload is a characteristic of multiple disease entities, from acquired manganism upon environmental or occupational overexposure, to end‐stage liver disease and certain genetic disorders. The latter include hypermanganesaemia with dystonia 1 and 2 caused by pathogenic variants in the genes encoding the Mn transporters SLC30A10
Hendrik Vogt, George E. Kostakis, Rupert Purchase, John Spencer, Karin Tuschl   +4 more
wiley   +1 more source

The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts. [PDF]

PLoS ONE, 2008
Refractory Anemia with Ring Sideroblasts (RARS) is an acquired myelodysplastic syndrome (MDS) characterized by an excess iron accumulation in the mitochondria of erythroblasts.
Jacqueline Boultwood, Andrea Pellagatti, Maryam Nikpour, Beena Pushkaran, Carrie Fidler, Helen Cattan, Tim J Littlewood, Luca Malcovati, Matteo G Della Porta, Martin Jädersten, Sally Killick, Aristoteles Giagounidis, David Bowen, Eva Hellström-Lindberg, Mario Cazzola, James S Wainscoat   +15 more
doaj   +1 more source

Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis

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   +1 more source

Mitochondrial Diseases: Molecular Pathogenesis and Therapeutic Advances

MedComm, Volume 6, Issue 9, September 2025.
Key pathogenic mechanisms—OXPHOS defects, heteroplasmy, impaired mtDNA repair, disrupted dynamics/mitophagy, and inflammatory signaling—drive multiorgan involvement in mitochondrial diseases. Targeted interventions include metabolic drugs (CoQ10, idebenone, EPI‐743), mitochondrial gene editing (DdCBE, mitoBEs, CyDENT/mitoTALEN/mtZFN), and mitochondrial
Jialun Mei, Peng Ding, Chuan Gao, Jian Zhou, Zhiwei Li, Changqing Zhang, Junjie Gao   +6 more
wiley   +1 more source

Etiological study of microcytic hypochromic anemia

Journal of Pathology of Nepal, 2016
Background: Microcytic hypochromic anemia is a distinct morphologic subtype of anemia with well- de ned etiology and treatment. The objective of this study was to determine the etiology and frequency of microcytic hypochromic anemia.
S Kafle, M Lakhey
doaj   +1 more source

Case Report: Clinical and Hematological Characteristics of εγδβ Thalassemia in an Italian Patient

Frontiers in Pediatrics, 2022
Introductionεγδβ thalassemia is a rare form of β-thalassemia mostly described in children originating from Northern Europe. Only anecdotic cases from the Mediterranean area are reported. The diagnosis is challenging, considering the rarity of the disease
Ilaria Fotzi, Francesco Pegoraro, Francesco Pegoraro, Elena Chiocca, Tommaso Casini, Massimo Mogni, Marinella Veltroni, Claudio Favre   +7 more
doaj   +1 more source

Socio‐Epidemiological Correlates of Anemia Among Non‐Pregnant Females of East and West Uttar Pradesh, India: A NFHS‐5 Secondary Data Analysis Highlighting the Need for Precision Public Policy

Public Health Challenges, Volume 4, Issue 3, September 2025.
ABSTRACT Anemia remains a persistent public health challenge in India, disproportionately affecting women and undermining maternal and reproductive health outcomes. Despite nationwide efforts, the burden of anemia continues to vary widely across regions, reflecting complex socio‐demographic determinants.
Sonam Maheshwari, Richa Sinha, Neil Patel, Okashah Kaiwan, Avisham Goyal, Oroshay Kaiwan, Inderbir Padda, Nidhi Uniyal, Mohammed K. Suhail, Talha Bin Emran, Nirja Kaka, Yashendra Sethi   +11 more
wiley   +1 more source