Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene
| العنوان: | Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene |
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| المؤلفون: | Taco W. Kuijpers, Andrica C. H. de Vries, Ester M. van Leeuwen, A.(Ton) A. M. Ermens, Saskia de Pont, Desirée E. C. Smith, Mirjam M. C. Wamelink, Arjen R. Mensenkamp, Marcel R. Nelen, Hana Lango Allen, Steven T. Pals, Berna H. B. Beverloo, Hidde H. Huidekoper, Anja Wagner |
| المساهمون: | Pediatrics, Clinical chemistry, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Clinical Genetics, Paediatric Infectious Diseases / Rheumatology / Immunology, AII - Inflammatory diseases, ARD - Amsterdam Reproduction and Development, Experimental Immunology, CCA - Cancer biology and immunology, Laboratory Genetic Metabolic Diseases, Pathology, 09 Laboratory specialisms |
| المصدر: | Blood, 6(22), 5829-5834. American Society of Hematology NIHR BioResource Study Group 2022, ' Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene ', Blood, vol. 6, no. 22, pp. 5829-5834 . https://doi.org/10.1182/bloodadvances.2022007233 Blood advances, 6(22), 5829-5834. American Society of Hematology Blood Advances, 6, 22, pp. 5829-5834 Blood Advances, 6, 5829-5834 |
| سنة النشر: | 2022 |
| مصطلحات موضوعية: | Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], Leukemia, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Homozygote, Mutation, Humans, Anemia, Hematology |
| الوصف: | Dihydrofolate reductase (DHFR) is a critical enzyme in folate metabolism that reduces folic acid to dihydrofolic and tetrahydrofolic acid and provides an important target for antineoplastic, antimicrobial, and anti-inflammatory drugs. Defective DHFR activity leads to megaloblastic anemia syndrome combined with severe cerebral folate deficiency, and cerebral tetrahydrobiopterin deficiency due to a germ line missense mutation in DHFR has been reported.1,2 Folate represents a large family of water-soluble vitamins that play an important role in DNA synthesis, repair, and transmethylation pathways.3 Folate is also a substrate for purine and thymidine synthesis and a methyl donor for homocysteine to methionine conversion, with low folate status being reflected by elevated plasma homocysteine concentrations.4 Cerebral tetrahydrobiopterin is required for the formation of dopamine, serotonin, and norepinephrine and the hydroxylation of aromatic amino acids as a link to neurodevelopmental symptoms. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 2473-9529 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56771080af5c706649bb1d0c336a4c91 https://research.vumc.nl/en/publications/7c387e00-6db9-4862-a1eb-671b0c8d707d |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....56771080af5c706649bb1d0c336a4c91 |
| قاعدة البيانات: | OpenAIRE |
Full Text via ClinicalKey | تدمد: | 24739529 |
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