Results 51 to 60 of about 3,469 (181)
European Journal of Immunology, Volume 56, Issue 4, April 2026.Investigation of IFN signaling in cultured skin fibroblasts from patients with genetically confirmed mitochondrial diseases of diverse origins revealed that altered IFN signaling is an inconsistent feature of these disorders. Cytosolic accumulation of mtDNA and mtRNA was variably detected and showed little correlation with ISG scores.
Manon Marchais +11 more
wiley +1 more source
From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family
Protein Science, Volume 35, Issue 4, April 2026.Abstract Mitochondrial carrier proteins are essential for cellular physiology as they are active in a wide range of metabolic pathways including production of cellular energy, amino acid synthesis, redox balance and ion homeostasis. The double membrane of mitochondria provides a tightly gated environment through which carrier proteins facilitate the ...
Catherine S. Palmer +2 more
wiley +1 more source
British Journal of Haematology, Volume 208, Issue 4, Page 1407-1418, April 2026.Summary Inherited bone marrow failure syndromes (IBMFSs) are genetically heterogeneous with an expanding spectrum of causative genes. Recent molecular advances are thought to have contributed to genetic identification, yet the true gain in diagnostic yield remains unclear.
Ye Jee Shim +21 more
wiley +1 more source
Clinical Genetics, Volume 109, Issue 4, Page 717-724, April 2026.Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald +10 more
wiley +1 more source
Erythropoiesis in health and disease: Distinguishing defective and ineffective erythropoiesis
HemaSphere, Volume 10, Issue 1, January 2026.Abstract Erythropoiesis is a finely regulated process ensuring continuous red blood cell production to maintain oxygen delivery. Disruptions in this process give rise to defective erythropoiesis, characterized by impaired lineage commitment and progenitor development, and ineffective erythropoiesis (IE), marked by expansion of erythroid progenitors ...
Sara El Hoss +3 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
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 +15 more
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 +7 more
doaj +1 more source
Biology of sideroblastic anemia.
[Rinsho ketsueki] The Japanese journal of clinical hematology, 2017 Sideroblastic anemia is characterized by anemia with ring sideroblasts produced by the bone marrow. Sideroblasts are formed by disutilization and deposit of iron in the mitochondoria. There are two forms of sideroblastic anemia: congenital and acquired.
openaire +2 more sources
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 +12 more
wiley +1 more source