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Journal articles on the topic 'Iron Regulation Abnormalities'

Author: Grafiati

Published: 5 June 2025

Last updated: 1 August 2025

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1

Y., Kusumo Adi Arji Atmanto, Alim Abdullah Agus, and Arif Mansyur. "Hereditary Hemochromatosis: an Inherited Abnormality of Iron Regulation." International Journal of Current Science Research and Review 05, no. 05 (2022): 1585–95. https://doi.org/10.5281/zenodo.6562625.

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<strong>ABSTRACT: </strong>Hereditary Hemochromatosis (HH) is an autosomal recessive genetic disease characterized by abnormalities in iron regulation, mostly due to mutations in the HFE gene, leading to increased iron absorption due to hepcidin deficiency. The classification of HH is based on the type of mutated gene, which must be distinguished from non-genetic conditions that cause secondary elevations in serum iron levels such as multiple transfusions and increased iron supplementation. Pathophysiological mechanisms of HH include increased absorption of iron in the upper intestine, decreas

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2

Nemeth, Elizabeta, Olivier Loreal, Caroline Le Lan, et al. "Altered Hepcidin Regulation in Hereditary Hemochromatosis and Dysmetabolic Hyperferritinemia." Blood 106, no. 11 (2005): 3590. http://dx.doi.org/10.1182/blood.v106.11.3590.3590.

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Abstract Hepcidin, the key iron-regulatory hormone synthesized by the liver, blocks iron absorption in duodenum and iron recycling from macrophages. Hepcidin dysregulation is implicated in the pathogenesis of several iron disorders. Hepcidin deficiency was observed in most types of hereditary hemochromatosis, including the HFE-related hemochromatosis, where decreased levels of hepcidin mRNA were found in patients with HFE mutations and in mice lacking HFE. However, levels of the bioactive hepcidin peptide in this disease have not been evaluated. We analyzed urinary hepcidin concentrations in a

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QUINLAN, G. J., Y. CHEN, T. W. EVANS, and J. M. C. GUTTERIDGE. "Iron signalling regulated directly and through oxygen: implications for sepsis and the acute respiratory distress syndrome." Clinical Science 100, no. 2 (2001): 169–82. http://dx.doi.org/10.1042/cs1000169.

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Reactive oxygen species produced at toxic levels are damaging species. When produced at sub-toxic levels, however, they are involved as second messengers in numerous signal transduction pathways. In addition to these findings, we can add the concept that iron (often viewed as the ‘villain’ in free radical biology) can also be considered as a signalling species. Iron is intimately involved in the regulation of its own storage, compartmentalization and turnover. During adult respiratory distress syndrome (ARDS) and sepsis, such regulation may be aberrant or altered in some predisposed way. Such

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Ward, Pauline P., Marisela Mendoza-Meneses, Grainne A. Cunningham, and Orla M. Conneely. "Iron Status in Mice Carrying a Targeted Disruption of Lactoferrin." Molecular and Cellular Biology 23, no. 1 (2003): 178–85. http://dx.doi.org/10.1128/mcb.23.1.178-185.2003.

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ABSTRACT Lactoferrin is a member of the transferrin family of iron-binding glycoproteins present in milk, mucosal secretions, and the secondary granules of neutrophils. While several physiological functions have been proposed for lactoferrin, including the regulation of intestinal iron uptake, the exact function of this protein in vivo remains to be established. To directly assess the physiological functions of lactoferrin, we have generated lactoferrin knockout (LFKO−/−) mice by homologous gene targeting. LFKO−/− mice are viable and fertile, develop normally, and display no overt abnormalitie

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Tabrizi, S. J., and A. H. V. Schapira. "Secondary abnormalities of mitochondrial DNA associated with neurodegeneration." Biochemical Society Symposia 66 (September 1, 1999): 99–110. http://dx.doi.org/10.1042/bss0660099.

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The central nervous system has a particularly high energy requirement, thus making it very susceptible to defects in mitochondrial function. A number of neurodegenerative diseases, in particular Parkinson's disease (PD), Huntington's disease (HD) and Friedreich's ataxia (FRDA), are associated with mitochondrial dysfunction. The identification of a mitochondrial complex-I defect in PD provides a link between toxin models of the disease, and clues to the pathogenesis of idiopathic PD. We have undertaken genomic transplantation studies involving the transfer of mitochondrial DNA (mtDNA) from PD p

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Perisano, Carlo, Emanuele Marzetti, Maria Silvia Spinelli, Cinzia Anna Maria Callà, Calogero Graci та Giulio Maccauro. "Physiopathology of Bone Modifications inβ-Thalassemia". Anemia 2012 (2012): 1–5. http://dx.doi.org/10.1155/2012/320737.

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β-thalassemia major (βTM) or Cooley anemia is characterized by significantly reduced or absent synthesis ofβ-globin chains, which induces important pathologic consequences including hemolytic anemia, altered erythropoiesis, and bone marrow overstimulation. The pathogenesis of bone changes in patients withβTM is not yet completely understood. However, an unbalance in bone mineral turnover resulting from increased resorption and suppression of osteoblast activity has been detected inβTM patients. The abnormal regulation of bone metabolism may be related to hormonal and genetic factors, iron over

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Bazyka, D. A., K. M. Bruslova, L. O. Lyashenko, et al. "STRUCTURAL AND FUNCTIONAL BONE FEATURES IN CHILDREN RESIDING IN THE RADIOLOGICALLY CONTAMINATED TERRITORIES OF UKRAINE." Проблеми радіаційної медицини та радіобіології = Problems of Radiation Medicine and Radiobiology 29 (2024): 259–70. https://doi.org/10.33145/2304-8336-2024-29-259-270.

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Objective. Evaluation of structural features and metabolic/biochemical abnormalities of the bone tissue and relevant regulation patterns in children, residing in the radiologically contaminated territories (RCT). Materials and methods. Children (n = 148) aged 7 to 18 years old were involved in the study. Bone mineral density (BMD) is given in 3 grades according to the mean square deviation values, namely Grade I – standard (n = 75), Grade II – reduced (n = 45) and Grade III – very low one (n = 28). Cholelithiasis, urolithiasis, cancer and endocrine diseases, as well as bone fractures in the fa

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Kouroumalis, Elias, Ioannis Tsomidis, and Argyro Voumvouraki. "HFE-Related Hemochromatosis May Be a Primary Kupffer Cell Disease." Biomedicines 13, no. 3 (2025): 683. https://doi.org/10.3390/biomedicines13030683.

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Iron overload can lead to increased deposition of iron and cause organ damage in the liver, the pancreas, the heart and the synovium. Iron overload disorders are due to either genetic or acquired abnormalities such as excess transfusions or chronic liver diseases. The most common genetic disease of iron deposition is classic hemochromatosis (HH) type 1, which is caused by mutations of HFE. Other rare forms of HH include type 2A with mutations at the gene hemojuvelin or type 2B with mutations in HAMP that encodes hepcidin. HH type 3, is caused by mutations of the gene that encodes transferrin r

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Mok, Henry, Miriam Mendoza, Josef T. Prchal, Peter Balogh, and Armin Schumacher. "Aberrant Ferroportin 1 Regulation and Iron Homeostasis Interferes with Development of the Spleen Stroma during Murine Embryogenesis." Blood 104, no. 11 (2004): 3192. http://dx.doi.org/10.1182/blood.v104.11.3192.3192.

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Abstract We have previously identified a regulatory mutation in the ferroportin 1 (Fpn1) locus in polycythaemia (Pcm) mutant mice, leading to transient iron overload and polycythemia during postnatal development. A 58-base pair deletion within the Fpn1 promoter region caused aberrant transcription initiation and resulted in the absence of the iron-responsive element in the 5′ untranslated region of the vast majority of Fpn1 transcripts, thereby disrupting translational regulation of Fpn1 expression. Interestingly, at birth Pcm mutant pups were remarkable for severe iron deficiency and a hypoch

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De Sanctis, Vincenzo. "THE ICET-A RECOMMENDATIONS FOR THE DIAGNOSIS AND MANAGEMENT OF DISTURBANCES OF GLUCOSE HOMEOSTASIS IN THALASSEMIA MAJOR PATIENTS." Mediterranean Journal of Hematology and Infectious Diseases 8 (October 25, 2016): 2016058. http://dx.doi.org/10.4084/mjhid.2016.058.

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Iron overload in patients with thalassemia major (TM) affects glucose regulation, and is mediated by several mechanisms. These include the oxidative damage inflicted by iron on the pancreatic ß -cells and liver cells leading to pancreatic and hepatic dysfunction and insulin resistance. These disturbances have been identified by oral glucose tolerance test (OGTT), euglycemic insulin clamp, homeostatic model assessment (HOMA), intravenous glucose tolerance test (IVGT) and continuous glucose monitoring system (CGMS). A group of endocrinologists, hematologists and paediatricians, members of the In

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McDonald, Cameron J., Lesa Ostini, Daniel F. Wallace, Abraham N. John, Dianne J. Watters, and V. Nathan Subramaniam. "Iron loading and oxidative stress in theAtm−/−mouse liver." American Journal of Physiology-Gastrointestinal and Liver Physiology 300, no. 4 (2011): G554—G560. http://dx.doi.org/10.1152/ajpgi.00486.2010.

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Ataxia-Telangiectasia (A-T) is an autosomal recessive disorder resulting in a myriad of abnormalities, including progressive neurodegeneration and cancer predisposition. At the cellular level, A-T is a disease of chronic oxidative stress (OS) causing damage to proteins, lipids, and DNA. OS is contributed to by pro-oxidative transition metals such as iron that catalyze the conversion of weakly reactive oxygen species to highly reactive hydroxyl radicals. Iron-associated OS has been linked to neurodegeneration in Alzheimer's and Parkinson's diseases and development of lymphoid tumors (which affl

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Venou, Theodora Maria, Filippos Kyriakidis, Fani Barmpageorgopoulou та ін. "Risk Factors for Impaired Glucose Metabolism in Transfusion-Dependent Patients with β-Thalassemia: A Single-Center Retrospective Observational Study". Hematology Reports 17, № 1 (2025): 6. https://doi.org/10.3390/hematolrep17010006.

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Background/Objectives: B-thalassemia is a genetic disorder that leads to reduced or absent β-globin chains, often resulting in endocrine abnormalities due to iron overload, chronic anemia, and hypoxia. This study investigates the prevalence and risk factors for glucose metabolism disturbances in transfusion-dependent β-thalassemia (TDT) patients, focusing on pancreatic iron overload and its association with other iron biomarkers. Methods: We studied two groups of TDT patients (2018–2022) at Hippokration General Hospital: Group 1 (no glucose metabolism impairment, n = 46) and Group 2 (with impa

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Ferreira, Chrystophe, Paolo Santambrogio, Marie-Elise Martin, et al. "H ferritin knockout mice: a model of hyperferritinemia in the absence of iron overload." Blood 98, no. 3 (2001): 525–32. http://dx.doi.org/10.1182/blood.v98.3.525.

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Abstract Ferritin, the iron-storing molecule, is made by the assembly of various proportions of 2 different H and L subunits into a 24-mer protein shell. These heteropolymers have distinct physicochemical properties, owing to the ferroxidase activity of the H subunit, which is necessary for iron uptake by the ferritin molecule, and the ability of the L subunit to facilitate iron core formation inside the protein shell. It has previously been shown that H ferritin is indispensable for normal development, since inactivation of the H ferritin gene by homologous recombination in mice is lethal at

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Piperno, Alberto, Sara Pelucchi, and Raffaella Mariani. "Hereditary Hyperferritinemia." International Journal of Molecular Sciences 24, no. 3 (2023): 2560. http://dx.doi.org/10.3390/ijms24032560.

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Ferritin is a ubiquitous protein that is present in most tissues as a cytosolic protein. The major and common role of ferritin is to bind Fe2+, oxidize it and sequester it in a safe form in the cell, and to release iron according to cellular needs. Ferritin is also present at a considerably low proportion in normal mammalian sera and is relatively iron poor compared to tissues. Serum ferritin might provide a useful and convenient method of assessing the status of iron storage, and its measurement has become a routine laboratory test. However, many additional factors, including inflammation, in

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Ushakova, Tatyana, and Vitaly Chichilenko. "Predictive criteria of oxidative stress in struvite cystolithiasis in cats taking into account intercorrelations of iron metabolism and redox regulation of blood cells." BIO Web of Conferences 179 (2025): 03004. https://doi.org/10.1051/bioconf/202517903004.

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The existing diagnostic protocols for feline cystolithiasis are extremely limited because they do not take into account the nature of the relationship between iron metabolism markers and the level of oxidative stress. Correlation analysis of this relationship will help find predictive serum biomarkers that can be used to stratify the risk of oxidative stress and predict subsequent metabolic disorders in feline struvite cystolithiasis. The aim of the experiment was to conduct exploratory studies of predictive factors of cellular redox regulation disorders in feline struvite cystolithiasis. The

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16

Selheim, Frode, Elise Aasebø, Håkon Reikvam, Øystein Bruserud, and Maria Hernandez-Valladares. "Proteomic Comparison of Acute Myeloid Leukemia Cells and Normal CD34+ Bone Marrow Cells: Studies of Leukemia Cell Differentiation and Regulation of Iron Metabolism/Ferroptosis." Proteomes 13, no. 1 (2025): 11. https://doi.org/10.3390/proteomes13010011.

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Acute myeloid leukemia (AML) is an aggressive bone marrow malignancy that can be cured only by intensive chemotherapy possibly combined with allogeneic stem cell transplantation. We compared the pretreatment proteomic profiles of AML cells derived from 50 patients at the time of first diagnosis with normal CD34+ bone marrow cells. A comparison based on all AML and CD34+ normal cell populations identified 121 differentially abundant proteins that showed at least 2-fold differences, and these proteins included several markers of neutrophil differentiation (e.g., TLR2, the integrins ITGM and ITGX

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Di Modica, Simona Maria, Emanuele Tanzi, Alessia Pagani, Laura Silvestri та Antonella Nai. "Hyperactive Erythropoiesis Induced By Hematopoietic Tfr2 Deletion Corrects Glucose Abnormalities in β-Thalassemic Mice". Blood 144, Supplement 1 (2024): 3852. https://doi.org/10.1182/blood-2024-207290.

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Introduction: β-thalassemia is a genetic disease characterized by anemia, ineffective erythropoiesis and iron-overload due to inadequate hemoglobin production, which leads to premature cell death. Alterations of glucose metabolism and diabetes are common complications of the disease, usually ascribed to organ dysfunction because of iron accumulation. However, β-thalassemia carriers, who do not present iron-overload, have a higher risk of developing diabetes compared to the general population, suggesting that factors other than iron may contribute to glycometabolic abnormalities. Transferrin Re

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King, Skylar D., Chipo F. Gray, Luhua Song, Ron Mittler, and Pamela A. Padilla. "The mitochondrial localized CISD-3.1/CISD-3.2 proteins are required to maintain normal germline structure and function in Caenorhabditis elegans." PLOS ONE 16, no. 2 (2021): e0245174. http://dx.doi.org/10.1371/journal.pone.0245174.

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Reproductive organs and developing tissues have high energy demands that require metabolic functions primarily supported by mitochondria function. The highly conserved CISD/NEET iron-sulfur (Fe-S) protein family regulates iron and reactive oxygen homeostasis, both of which are important for mitochondrial function. Disruption of iron and reactive oxygen homeostasis typically leads to detrimental effects. In humans, CISD dysfunction is associated with human health issues including Wolfram syndrome 2. Using C. elegans, we previously determined that the cisd-1, cisd-3.1 and cisd-3.2 have an overla

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Ashraf Soliman, Fawzia Alyafei, Nada Soliman, et al. "Pancreatic dysfunction in thalassemia major: The impact of iron overload on exocrine and endocrine functions." World Journal of Advanced Research and Reviews 24, no. 3 (2024): 2709–15. https://doi.org/10.30574/wjarr.2024.24.3.3985.

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The pancreas is a critical organ with dual endocrine and exocrine functions, integral to digestion and glucose regulation. In thalassemia major, chronic blood transfusions lead to systemic iron overload, resulting in pancreatic hemosiderosis. This condition causes significant structural and functional damage, including acinar cell atrophy, fibrosis, exocrine pancreatic insufficiency (EPI), and beta-cell dysfunction, which predisposes patients to diabetes. Advanced imaging modalities like MRI T2* have revealed a strong correlation between pancreatic iron overload and these complications, demons

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Ashraf, Soliman, Alyafei Fawzia, Soliman Nada, et al. "Pancreatic dysfunction in thalassemia major: The impact of iron overload on exocrine and endocrine functions." World Journal of Advanced Research and Reviews 24, no. 3 (2024): 2709–15. https://doi.org/10.5281/zenodo.15239855.

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The pancreas is a critical organ with dual endocrine and exocrine functions, integral to digestion and glucose regulation. In thalassemia major, chronic blood transfusions lead to systemic iron overload, resulting in pancreatic hemosiderosis. This condition causes significant structural and functional damage, including acinar cell atrophy, fibrosis, exocrine pancreatic insufficiency (EPI), and beta-cell dysfunction, which predisposes patients to diabetes. Advanced imaging modalities like MRI T2* have revealed a strong correlation between pancreatic iron overload and these complications, demons

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Hafsari, Ayu, and Nadirah Rasyid Ridha. "REACTIVE TRHOMBOCYTOSIS IN CHILDREN." International Journal of Health Science & Medical Research 1, no. 2 (2022): 111–32. http://dx.doi.org/10.37905/ijhsmr.v1i2.14134.

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Thrombocytosis is a condition which the platelet count exceeds 450,000/mm3. Thrombocytosis was classified as: mild (450,000-700,000/mm3), moderate (700,000-900,000/mm3), severe (900,000-1,000,000/mm3) and extreme (1,000,000/mm3). Functionally, thrombocytosis is divided into primary (essential) and secondary (reactive). The novelty of this study due to examining reactive thrombocytosis in children. The purpose of this study was to look at reactive thrombocytosis in children. Essential thrombocytosis is a myeloproliferative disorder due to monoclonal or polyclonal abnormalities of hematopoietic

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Wehbe, Ramsey M., Rebecca L. Whittlesey, Nancy C. Andrews, and Karin E. Finberg. "The Serine Protease Tmprss6 Regulates Hepcidin Expression, but Its Loss Does Not Cause Systemic Iron Deficiency In the Fetal and Neonatal Periods." Blood 116, no. 21 (2010): 4258. http://dx.doi.org/10.1182/blood.v116.21.4258.4258.

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Abstract Abstract 4258 Mutations in TMPRSS6 (matriptase-2), a transmembrane serine protease expressed by the liver, result in the clinical phenotype of iron refractory iron deficiency anemia (IRIDA). Additionally, common polymorphisms in TMPRSS6 have been associated with variation in laboratory parameters of iron homeostasis in healthy populations. TMPRSS6 increases iron absorption by reducing expression of the hepatic hormone, hepcidin, via down-regulation of a BMP/SMAD signaling cascade. Hepcidin promotes the internalization and degradation of the duodenal iron transporter, ferroportin, ther

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Visconte, Valeria, Kevin R. Kelly, Steffan T. Nawrocki, et al. "Elevated Basal Autophagy in SF3B1 Mutated Myelodysplastic Syndromes: Relationship with Survival Outcomes and Therapeutic Implications." Blood 126, no. 23 (2015): 1647. http://dx.doi.org/10.1182/blood.v126.23.1647.1647.

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Abstract About 60-80% of patients with myelodysplastic syndromes (MDS) manifest with anemia. Red blood cell (RBC) transfusions are the most commonly used therapy to alleviate anemia in patients that are ineligible for other curative approaches. Transfusion-dependent patients frequently develop iron overload, which correlates with infections, mortality, leukemia, and organopathy. At the subcellular level, long-term iron exposure produces iron-catalyzed hydroxyl radicals that induce oxidative damage to mitochondria and disrupt bioenergetic homeostasis. The use of iron-chelating drugs to counter

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Ashrafizadeh, Milad. "Cell Death Mechanisms in Human Cancers: Molecular Pathways, Therapy Resistance and Therapeutic Perspective." Journal of Cancer Biomoleculars and Therapeutics 1, no. 1 (2024): 17–40. http://dx.doi.org/10.62382/jcbt.v1i1.13.

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A prominent cause of death among patients is cancer that can result from somatic mutations and exposure to environmental factors, among others. The treatment of cancer has been possible through the application of chemotherapy and radiotherapy that mainly mediate cell death and DNA damage. However, the tumor cells are able to induce the alternative molecular pathways to enhance their survival and mediate resistance to conventional therapeutics. The dysregulation of cell death pathways can significantly improve the therapy resistance in tumors and enhance their progression. Therefore, present re

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Ghildiyal, Sneha, Manjari Baluni, D. Himanshu Reddy, and Alok Kumar. "Comprehensive Assessment of Human Cerebrospinal Fluid for Protein Bio-Marker Identification Following Japanese Encephalitis Viral Infection." Biomedical and Pharmacology Journal 16, no. 2 (2023): 797–807. http://dx.doi.org/10.13005/bpj/2662.

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Identifying potential biomarkers, which can be used for diagnostic and therapeutic purposes, is urgently needed for successful Japanese encephalitis (J.E.) viral infection disease management. In the present study, we identified key CSF protein biomarkers of J.E. patients. We compared them to those from non-JE acute encephalitis syndrome and other neurological non-infectious patients to determine their discriminatory potential to detect JEV infection. Demographic and clinical information including fever, headache, vomiting, altered sensorium, behavioral abnormalities, neck stiffness, and GCS sc

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Bazyka, D. A., K. M. Bruslova, L. O. Lyashenko, et al. "FACTORS AFFECTING MECHANISMS OF INCREASED BONE DENSITY FORMATION IN CHILDREN LIVING ON RADIOLOGICALLY CONTAMINATED TERRITORIES AFTER THE ChNPP ACCIDENT." Проблеми радіаційної медицини та радіобіології = Problems of Radiation Medicine and Radiobiology 27 (2022): 276–89. http://dx.doi.org/10.33145/2304-8336-2022-27-276-289.

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Objective: to determine the causes of increased bone mineral density (BMD) based on case history, clinical and laboratory data, including the assay of hormones involved in ossification processes in children, living on radiologically contaminated territories (RCT) after the accident at the ChNPP, compared to the normative BMD patterns. Materials and methods. There were 289 children involved in the study. The 1st group included persons with a BMD above 100 IU, 2nd group – with normative BMD (100–85 IU). Family history of diseases was assessed featuring cancer and endocrine diseases, cholelithias

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Khalil, Melissa, Brynn Dredla, Joseph Cheung, and Pablo Castillo. "0706 Dextromethorphan for Restless Legs Syndrome: Testing the Glutamate Theory." SLEEP 47, Supplement_1 (2024): A302. http://dx.doi.org/10.1093/sleep/zsae067.0706.

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Abstract Introduction Restless legs syndrome (RLS) is a common disorder of unpleasant sensations during inactivity, an urge to move the legs, and hyperarousal. The pathophysiology is incompletely understood. Treatments are not always successful or carry side effects. Methods (Case Report) Results A 45-year-old woman presented with over a decade of RLS and sleep-onset insomnia. The diagnosis was based on the International RLS Study Group criteria. The severity was assessed by the nightly occurrence and Insomnia Severity Index (ISI) of 25. Interfering neurologic or sleep disorders, medications,

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Maruyama, Keiko, Eriko Morishita, Shigeki Ohtake, Akihiro Yachie, and Shinji Nakao. "Carbon Monoxide-Releasing Molecule-Derived CO Regulates Tissue Factor, Plasminogen Activator Inhibitor Type 1, and Thrombomodulin Production by Human Endothelial Cells." Blood 116, no. 21 (2010): 1146. http://dx.doi.org/10.1182/blood.v116.21.1146.1146.

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Abstract Abstract 1146 Background and purpose: Heme oxygenase-1 (HO-1) is a cytoprotective and anti-inflammatory protein that catalyzes the conversion of heme into biliverdin, free iron, and carbon monoxide (CO). HO-1 is rapidly induced by various oxidative stresses and inflammation, thereby playing an important role in the self defence system. Recently, Yachie, et al. reported the first human case of HO-1 deficiency. This patient showed prominent signs of intravascular hemolysis, endothelial cell injury, and abnormalities in the coagulation / fibrinolysis system, suggesting the involvement of

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Da Costa, Lydie M., Isabelle Marie, and Thierry M. Leblanc. "Diamond-Blackfan anemia." Hematology 2021, no. 1 (2021): 353–60. http://dx.doi.org/10.1182/hematology.2021000314.

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Abstract Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome, characterized as a rare congenital bone marrow erythroid hypoplasia (OMIM#105650). Erythroid defect in DBA results in erythroblastopenia in bone marrow as a consequence of maturation blockade between the burst forming unit–erythroid and colony forming unit–erythroid developmental stages, leading to moderate to severe usually macrocytic aregenerative (&lt;20 × 109/L of reticulocytes) anemia. Congenital malformations localized mostly in the cephalic area and in the extremities (thumbs), as well as short stat

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Burall, Laurel S., Janette M. Harro, Xin Li, et al. "Proteus mirabilis Genes That Contribute to Pathogenesis of Urinary Tract Infection: Identification of 25 Signature-Tagged Mutants Attenuated at Least 100-Fold." Infection and Immunity 72, no. 5 (2004): 2922–38. http://dx.doi.org/10.1128/iai.72.5.2922-2938.2004.

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ABSTRACT Proteus mirabilis, a common cause of urinary tract infections (UTI) in individuals with functional or structural abnormalities or with long-term catheterization, forms bladder and kidney stones as a consequence of urease-mediated urea hydrolysis. Known virulence factors, besides urease, are hemolysin, fimbriae, metalloproteases, and flagella. In this study we utilized the CBA mouse model of ascending UTI to evaluate the colonization of mutants of P. mirabilis HI4320 that were generated by signature-tagged mutagenesis. By performing primary screening of 2,088 P. mirabilis transposon mu

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KUMARI, PREETI, and RAJ KUMAR. "An Impact of Liver Cirrhosis on Haematological, Renal & Hepatic Parameters." An Impact of Liver Cirrhosis on Haematological, Renal & Hepatic Parameters 16, no. 11 (2024): 2043–46. https://doi.org/10.5281/zenodo.15058703.

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Abstract: Background: Liver disease is a significant global health issue leading to liver failure, cirrhosis, and cancer. Alcohol is a major cause, accounting for 5% of deaths in India. Understanding liver disease molecular mechanisms is vital for developing new treatments and reducing cirrhosis-related mortality. Objective of The Study: To Assess & Compare the haematological, renal, and liver function parameters among cases and controls. Material and Methods: The study was conducted at Index Medical College hospitals in Indore. This study included individuals with chronic alcoholic liver

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Vozianova, S. V., L. A. Bolotna, and O. I. Sarian. "Women’s hair loss: pathophysiological, diagnostic and therapeutic aspects." Reproductive health of woman, no. 5 (October 7, 2022): 26–33. http://dx.doi.org/10.30841/2708-8731.5.2022.265471.

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The article presents a review of modern ukrainian and foreign publications on the pathogenesis, clinical manifestations and diagnostics of female pattern hair loss (FPHL), which is a common type of hair loss and its frequency increases with age. The questions of terminology, disease prevalence, and risk factors of hair loss are considered. It is emphasized that FPHL is a clinical problem and that it is advisable to clarify the comorbid profile of female patients and to screen for metabolic disorders. There is still no complete understanding of the pathophysiology of FPHL. There is evidence tha

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S.V., Vozianova, Bolotna L.A., and Sarian O.I. "WOMEN'S HAIR LOSS: PATHOPHYSIOLOGICAL, DIAGNOSTIC AND THERAPEUTIC ASPECTS." Reproductive Health of Woman, no. 5 (July 29, 2022): 26–33. https://doi.org/10.30841/2708-8731.5.2022.265471.

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The article presents a review of modern ukrainian and foreign publications on the pathogenesis, clinical manifestations and diagnostics of female pattern hair loss (FPHL), which is a common type of hair loss and its frequency increases with age. The questions of terminology, disease prevalence, and risk factors of hair loss are considered. It is emphasized that FPHL is a clinical problem and that it is advisable to clarify the comorbid profile of female patients and to screen for metabolic disorders. There is still no complete understanding of the pathophysiology of FPHL. There is evidence tha

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Miasnikova, Galina Y., Xiaomei Niu, Mehdi Nouraie, et al. "Effect of Phlebotomy Therapy On Hemoglobin Concentration and Tricuspid Regurgitation Velocity in Chuvash Polycythemia." Blood 114, no. 22 (2009): 1897. http://dx.doi.org/10.1182/blood.v114.22.1897.1897.

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Abstract Abstract 1897 Poster Board I-920 Background: Chuvash polycythemia is caused by homozygosity for the VHL598C>T mutation, which leads to up-regulation of HIF-1a and HIF-2a in normoxia. As the result, circulating concentrations of erythropoietin are elevated. Chuvash polycythemia patients suffer from cardiovascular abnormalities that include pulmonary arterial hypertension, thrombosis and stroke. Phlebotomy is a common therapy for patients to decrease symptoms such as plethora and headache. However, the outcomes of phlebotomy have not been assessed for these patients. The objective of

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Delehanty, Lorrie L., and Adam N. Goldfarb. "Erythropoietin Regulates GATA-1 Function and Erythroid Differentiation by a PKD-HDAC5 Signal Transduction Pathway." Blood 116, no. 21 (2010): 85. http://dx.doi.org/10.1182/blood.v116.21.85.85.

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Abstract Abstract 85 How erythropoietin (Epo) signaling promotes erythroid differentiation remains unclear. Epo is known to regulate the function of the master regulator of erythroid gene transcription, GATA-1. Using murine proerythroblasts engineered with a conditional GATA-1-ER fusion, G1ER cells, Gregory et al. showed that GATA-1 induction of erythroid differentiation required signaling by Epo; in cultures lacking Epo, activation of GATA-1 caused cell death without differentiation (Blood 94:87-96, 1999). Although several models have been proposed for Epo regulation of GATA-1, no mechanism h

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Wilkes, Mark C., Jae Wook Lee, Sriya Kudaravalli, Anupama Narla, Bertil Glader, and Kathleen M. Sakamoto. "Nemo-like Kinase Hyper-Activated in Erythroid Progenitors in Models of Diamond Blackfan Anemia." Blood 130, Suppl_1 (2017): 78. http://dx.doi.org/10.1182/blood.v130.suppl_1.78.78.

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Abstract Diamond Blackfan Anemia (DBA) is associated with anemia, congenital abnormalities, and cancer. The disease typically presents within the first year of life. Approximately 70% of DBA patients possess a mutation in one of at least 12 ribosomal proteins, with RPS19 being the most prevalent, accounting for over 25% of cases. In mice, complete loss of RPS19 is not viable, yet mutations that result in haploinsufficiency result in failure of erythropoiesis due to a blockage during differentiation of early erythroblast progenitors. An increase in p53 stability has been attributed to the disea

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Yufei, Zhao, Xin Zhao, Wenrui Yang, and Fengkui Zhang. "Hetrombopag, an Emerging Iron-Chelating Agent, Alleviates Systemic Iron Overload." Blood 144, Supplement 1 (2024): 3848. https://doi.org/10.1182/blood-2024-201638.

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Background: Iron overload is a syndrome in which excessive iron accumulates in the body, leading to tissue damage and functional disorders. This condition is common in patients with refractory anaemia who receive long-term red blood cell transfusions. Hetrombopag (HPAG) is a new generation, oral, small molecule, nonpeptide thrombopoietin receptor agonist that can chelate iron and alleviate iron overload while promoting haematopoiesis. Nevertheless, there is currently a lack of research on the iron-chelating function of HPAG, and its mechanism of regulating iron metabolism in the body is not cl

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Hanson, Zachary D., Hamid Mirshahidi, Joel Brothers, et al. "Zinc As an Erythrocyte Stimulating Agent in Myelodysplastic Syndrome." Blood 142, Supplement 1 (2023): 5221. http://dx.doi.org/10.1182/blood-2023-191187.

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Background: The anemia highly associated with myelodysplastic syndrome (MDS) has been linked to numerous transcriptional factor regulation abnormalities, specifically SMAD 2/3 upregulation that forms an inhibitory feedback loop to downregulate erythrocyte stimulation (ESA), which can have therapeutic implications. There is evidence that zinc contributes to erythropoiesis through multifactorial mechanisms involving regulation and transportation of necessary micronutrients including copper and iron. Zinc is involved in cell signaling pathways for erythropoiesis including acting as a cofactor in

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Lien, Yu-Chin, David E. Condon, Michael K. Georgieff, Rebecca A. Simmons, and Phu V. Tran. "Dysregulation of Neuronal Genes by Fetal-Neonatal Iron Deficiency Anemia Is Associated with Altered DNA Methylation in the Rat Hippocampus." Nutrients 11, no. 5 (2019): 1191. http://dx.doi.org/10.3390/nu11051191.

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Early-life iron deficiency results in long-term abnormalities in cognitive function and affective behavior in adulthood. In preclinical models, these effects have been associated with long-term dysregulation of key neuronal genes. While limited evidence suggests histone methylation as an epigenetic mechanism underlying gene dysregulation, the role of DNA methylation remains unknown. To determine whether DNA methylation is a potential mechanism by which early-life iron deficiency induces gene dysregulation, we performed whole genome bisulfite sequencing to identify loci with altered DNA methyla

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Tanno, Toshihiko, Prashanth Porayette, Ajoy Bhupatiraju, et al. "Twisted Gastrulation (TWSG1) Is Expressed at Elevated Levels in Thalassemia and Regulates Bone Morphogenic Protein Signaling." Blood 110, no. 11 (2007): 1785. http://dx.doi.org/10.1182/blood.v110.11.1785.1785.

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Abstract Iron overload and bony abnormalities cause considerable morbidity among patients with thalassemia syndromes. One possible explanation for this phenomenon is that proteins normally secreted into the marrow microenvironment during erythropoiesis are over-expressed in thalassemia patients due to expanded and ineffective erythropoiesis. We previously discovered that GDF15 is produced at very high levels in thalassemia patients and inhibits hepcidin expression. Transcriptome screens of erythroblasts were utilized here to identify twisted gastrulation (TWSG1) as a second candidate protein f

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Changshan, Wang, Goro Sashida, Saraya Atsunori, and Atsushi Iwama. "Pre-mRNA Splicing Factor Sf3b1 Regulates Proliferation and Survival Of Hematopoietic Stem and Progenitor Cells." Blood 122, no. 21 (2013): 1577. http://dx.doi.org/10.1182/blood.v122.21.1577.1577.

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Abstract Alternative pre-mRNA splicing is a key process of biological diversity and normal gene expression. More than 90% of human multi-exon genes undergo alternative pre-mRNA processing. Mis-regulation of normal splicing patterns may give rise to pathophysiological processes and has been associated with human diseases, such as cancer. In the past few years, numerous studies have reported mutations involving multiple components of the mRNA splicing machinery including SF3B1, SRSF2, U2AF1, ZRSR2, PRPF40B, U2AF65 and SF1 in patients with MDS. Furthermore, the most frequently mutated spliceosome

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Nahi, Sameh, and Ferdous Jabir. "Correlation of Hepcidin with Hemoglobin and Iron Parameters in Iraqi Patients with Beta -Thalassemia major." AL-QADISIYAH MEDICAL JOURNAL 19, no. 1 (2023): 9–14. http://dx.doi.org/10.28922/qmj.2023.19.1.9-14.

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Background: Thalassemia is characterized by genetic abnormalities in the synthesis of hemoglobin, leading to a decrease or missing production of one or more in the globin chains. Consequently, this disrupts the synthesis of hemoglobin molecules, resulting in anemia, which is a prominent manifestation of thalassemia. Iron is an essential element for cellular health and is involved in various functions, including oxygen transportation, biomolecule synthesis, respiration, and homeostasis. Hepcidin, a low molecular weight peptide produced in the liver, plays a crucial role in regulating iron homeo

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Dinn, S. E., I. Wrobel, S. Bhandal, and M. Brundler. "A69 LONG-TERM EFFECTS OF TORKELSON SYNDROME." Journal of the Canadian Association of Gastroenterology 5, Supplement_1 (2022): 79–80. http://dx.doi.org/10.1093/jcag/gwab049.068.

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Abstract Background Torkelson Syndrome is a rare, familial enteropathy with villous edema causing recurrent episodes of life threatening vomiting and secretory diarrhea in childhood, with children being well between episodes. The only description, of a Mennonite family from southern Alberta, suggests normal growth and no long term sequelae. Severe laboratory abnormalities common during bouts of diarrhea (hypoalbuminemia, neutropenia and electrolyte abnormalities) normalize in the asymptomatic phase except for decreased IgG subclasses. Typical findings from the duodenum and jejunum do not vary

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Cherayil, Bobby, та Nanda Shanmugam. "IL-1β secreted by macrophages in response to commensal bacteria acts together with bone morphogenetic protein signals to increase hepcidin expression in hepatocytes (MUC5P.758)". Journal of Immunology 194, № 1_Supplement (2015): 138.16. http://dx.doi.org/10.4049/jimmunol.194.supp.138.16.

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Abstract Elevated expression of the iron regulating hormone hepcidin leads to abnormalities of iron metabolism in inflammatory diseases. The mechanisms involved in inflammation-associated hepcidin upregulation are not well understood. We have shown in mouse IBD models that the commensal microbiota significantly influences hepcidin expression. Here we describe experiments to elucidate how commensal bacteria upregulate hepcidin. Differentiated THP-1 macrophages were infected with the commensal Bifidobacterium infantis. Sterile supernatants of the infected, but not uninfected, THP-1 cells increas

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Vazquez-Meves, Guelaguetza, Namita Kumari, Nowah Afangbedji, et al. "Upregulation of Renal Iron Metabolism in Sickle Cell Disease Mice." Blood 128, no. 22 (2016): 1276. http://dx.doi.org/10.1182/blood.v128.22.1276.1276.

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Abstract BACKGROUND: Hemolysis and frequent blood transfusions lead to the iron overload and organ iron accumulation in patients with red blood cells disorders. The pattern of iron accumulation within different organs is disease specific. Abnormalities of renal iron metabolism and cortical iron deposition is characteristic for sickle cell disease (SCD) but not for β-thalassemia. Renal iron deposition does not correlate with iron overload and blood transfusion. Iron is reabsorbed from primary urine in the renal proximal epithelial cells and released into the renal intersitium by ferroportin. Ir

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Rujito, Lantip, та Teguh Haryo Sasongko. "Genetic Background of β Thalassemia Modifier: Recent Update". Journal of Biomedicine and Translational Research 4, № 1 (2018): 12. http://dx.doi.org/10.14710/jbtr.v4i1.2541.

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Thalassemia has become major health problem among developing countries. Genetic background which contain enormous mutations and variations have lead in clinical problem differences.The genetic basis of thalassemia, beta specifically, is mutations of the gene encoding the β chain of the hemoglobin (Beta-Globin, HBB). However, today it is known that abnormalities in this gene do not necessarily determine the clinical appearance of β thalassemia patients.A set of genes has been found that can modify the primary β thalassemia disorder. Secondary modifier contains genes that have been associated wi

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Murphy, Zachary C., Maeve Wells, Kristin Murphy, Michael Getman, and Laurie A. Steiner. "The Condensin II Complex Subunit NCAPH2 Is Essential for Erythropoiesis and Regulates Erythroid Gene Expression." Blood 138, Supplement 1 (2021): 286. http://dx.doi.org/10.1182/blood-2021-151957.

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Abstract Erythropoiesis requires dramatic changes in gene expression in a cell that is rapidly proliferating and undergoing progressive nuclear condensation in anticipation of enucleation. Disruption of this process is associated with myelodysplastic syndromes and congenital anemias. Our lab has demonstrated that Setd8, the sole histone methyltransferase that can generate H4K20me1, plays an essential role in this process (Malik 2019). H4K20me1 accumulates during terminal erythroid maturation (Murphy Blood 2021) and can regulate chromatin structure and gene expression through interaction with m

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Czaya, Brian, and Christian Faul. "The Role of Fibroblast Growth Factor 23 in Inflammation and Anemia." International Journal of Molecular Sciences 20, no. 17 (2019): 4195. http://dx.doi.org/10.3390/ijms20174195.

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In patients with chronic kidney disease (CKD), adverse outcomes such as systemic inflammation and anemia are contributing pathologies which increase the risks for cardiovascular mortality. Amongst these complications, abnormalities in mineral metabolism and the metabolic milieu are associated with chronic inflammation and iron dysregulation, and fibroblast growth factor 23 (FGF23) is a risk factor in this context. FGF23 is a bone-derived hormone that is essential for regulating vitamin D and phosphate homeostasis. In the early stages of CKD, serum FGF23 levels rise 1000-fold above normal value

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Osman, Hani Yousif, Khaled al Qawasmeh, Sabir Hussain, Amar Lal, Arif Alam, and Jorgen Kristensen. "Iron Chelation Therapy of Thalassemia Patients Is Still a Challenge. Single Centre Experience from United Arab Emirates." Blood 132, Supplement 1 (2018): 4908. http://dx.doi.org/10.1182/blood-2018-99-114601.

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Abstract Thalassemia is a group of complex haemoglobin disorders common in the Mediterranean countries, the Middle East and South East Asia1. Thalassemia is common in the United Arab Emirates (UAE) affecting indigenous population and the expatriates. The exact prevalence of thalassemia is not known. The management of thalassemia has improved significantly due to improvement in transfusion support and the management it's complications. This has led to the improvement of the overall survival and most patients reaching their adulthood2. Despite this some die at young age mainly due to poor access

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Malcovati, Luca, Elli Papaemmanuil, Eva Hellström-Lindberg, et al. "Somatic Mutation of SF3B1, a Gene Encoding a Core Component of RNA Splicing Machinery, in Myelodysplasia with Ring Sideroblasts." Blood 118, no. 21 (2011): 3. http://dx.doi.org/10.1182/blood.v118.21.3.3.

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Abstract Abstract 3 Myelodysplastic syndromes (MDS) are myeloid neoplasms characterized by dysplasia in one or more cell lines, ineffective hematopoiesis, and variable risk of progression to acute myeloid leukemia (AML). As any other neoplasm, MDS is expected to be driven by mutation, and its clonal evolution is likely a multistep process in which several genetic events occur. Somatic mutations of TET2 have been found in about 25% of MDS patients, while additional mutant genes (including ASXL1, ETV6, EZH2, IDH1, IDH2, RUNX1, and TP53) have been detected in smaller proportions of patients, part

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