SLC40A1 基因突变致遗传性血色病1 例报告doi:10.3969/j.issn.1001-5256.2021.05.041朱承谕陈琦封忠昕Journal of Clinical Hepatology / Linchuang Gandanbing Zazhi
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The case report discusses the successful treatment of a female patient with SLC40A1-HC using red blood cell apheresis. The article provides information on the medical and molecular bases of the disease, including the genetic background and measurement of the iron regulatory ...
METHODS: We sequenced genomic DNA to detect mutations of HFE, SLC40A1, TFR2, HAMP, and HFE2. RNA isolated from blood mononuclear cells was used to make cDNA. RT-PCR was performed to amplify ferroportin from cDNA, and ...
Conclusion. We for the first time determine that miR-147a targets SLC40A1 to induce ferroptosis in human glioblastoma in vitro.Xu, PengGe, Fei-HangLi, Wen-XinXu, ZhenWang, Xue-LiShen, Jing-LanXu, Ai-BoHao, Rong-RongAnalytical Cellular Pathology: Cellular Oncology...
Role of SLC40A1 R-178G Gene Mutation on Pathophysiology of Iron Deficient Sickle Cell Anemia PatientsPandey, SwetaKunder, ShaliniBajaj, NareshDwivedi, SudhakarSingh, VibhaPandey, Sanjay KumarIndian Practitioner
Four genes, namely SLC40A1, LCN2, CREB5, and SLC7A11, were identified as markers for AA. A prediction model based on these genes showed high accuracy (AUC = 0.9052). Immunofluorescence revealed reduced expression of these molecules in AA patients compared to normal ...
Insights into the role of glycerophospholipids on the iron export function of SLC40A1 and the molecular mechanisms of ferroportin diseasedoi:10.1096/fj.202400337RDebbiche, RimElbahnsi, AhmadUguen, KévinKa, ChandranCallebaut, IsabelleLeGac, Gérald...