与功能丧失性二价金属离子转运体1（DMT1）基因突变及无肝脏铁过载相关的遗传性低色素性小细胞贫血 - Suppr

Hereditary hypochromic microcytic anemia associated with loss-of-function DMT1 gene mutations and absence of liver iron overload.

作者信息

Casale Maddalena, Borriello Adriana, Scianguetta Saverio, Roberti Domenico, Caiazza Martina, Bencivenga Debora, Tartaglione Immacolata, Ladogana Saverio, Maruzzi Matteo, Della Ragione Fulvio, Perrotta Silverio

机构信息

Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Università della Campania "L. Vanvitelli", Italy.

Dipartimento di Biochimica, Biofisica e Patologia Generale, Università della Campania "L. Vanvitelli", Italy.

出版信息

Am J Hematol. 2018 Mar;93(3):E58-E60. doi: 10.1002/ajh.24988. Epub 2017 Dec 8.

DOI:10.1002/ajh.24988

PMID:29178181

Abstract

摘要

相似文献

Hereditary hypochromic microcytic anemia associated with loss-of-function DMT1 gene mutations and absence of liver iron overload.与功能丧失性二价金属离子转运体1（DMT1）基因突变及无肝脏铁过载相关的遗传性低色素性小细胞贫血

Am J Hematol. 2018 Mar;93(3):E58-E60. doi: 10.1002/ajh.24988. Epub 2017 Dec 8.

Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload.一名小细胞性贫血和铁过载患者中DMT1人类突变的鉴定。

Blood. 2005 Feb 1;105(3):1337-42. doi: 10.1182/blood-2004-07-2966. Epub 2004 Sep 30.

A novel N491S mutation in the human SLC11A2 gene impairs protein trafficking and in association with the G212V mutation leads to microcytic anemia and liver iron overload.人类 SLC11A2 基因中的一种新型 N491S 突变会损害蛋白转运，与 G212V 突变一起导致小细胞低色素性贫血和肝铁过载。

Blood Cells Mol Dis. 2011 Dec 15;47(4):243-8. doi: 10.1016/j.bcmd.2011.07.004. Epub 2011 Aug 26.

Natural history of recessive inheritance of DMT1 mutations.二价金属离子转运体1（DMT1）突变隐性遗传的自然史。

J Pediatr. 2008 Jan;152(1):136-9. doi: 10.1016/j.jpeds.2007.08.041.

The homozygous mutation G75R in the human SLC11A2 gene leads to microcytic anaemia and iron overload.人类SLC11A2基因中的纯合突变G75R会导致小细胞性贫血和铁过载。

Br J Haematol. 2012 May;157(4):514-6. doi: 10.1111/j.1365-2141.2012.09043.x. Epub 2012 Feb 8.

Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload.一名患有小细胞贫血、低铁蛋白血症和肝脏铁过载患者的两种新的人类二价金属离子转运体1（DMT1）基因突变

Blood. 2006 May 15;107(10):4168-70. doi: 10.1182/blood-2005-10-4269. Epub 2006 Jan 26.

Functional characterization of the E399D DMT1/NRAMP2/SLC11A2 protein produced by an exon 12 mutation in a patient with microcytic anemia and iron overload.一名患有小细胞贫血和铁过载的患者，其12号外显子突变产生的E399D DMT1/NRAMP2/SLC11A2蛋白的功能特性

Blood Cells Mol Dis. 2005 Sep-Oct;35(2):212-6. doi: 10.1016/j.bcmd.2005.05.008.

Not all DMT1 mutations lead to iron overload.并非所有二价金属离子转运体1（DMT1）突变都会导致铁过载。

Blood Cells Mol Dis. 2009 Sep-Oct;43(2):199-201. doi: 10.1016/j.bcmd.2009.05.003. Epub 2009 Jun 24.

Analysis of the E399D mutation in SLC11A2.溶质载体家族11成员2（SLC11A2）中E399D突变的分析

Blood. 2005 Sep 15;106(6):2221; author reply 2221-2. doi: 10.1182/blood-2005-03-1192.

Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2).一名患有二价金属离子转运体1（SCL11A2）复合杂合突变的儿童出现小细胞贫血和肝脏铁过载。

Blood. 2006 Jan 1;107(1):349-54. doi: 10.1182/blood-2005-06-2477. Epub 2005 Sep 13.

引用本文的文献

Proteomics-Based Exploration of the Hepatoprotective Mechanism of α-Lipoic Acid in Rats with Iron Overload-Induced Liver Injury.基于蛋白质组学探究α-硫辛酸对铁过载诱导肝损伤大鼠的肝保护机制

Int J Mol Sci. 2025 May 16;26(10):4774. doi: 10.3390/ijms26104774.

Childhood Multiple Endocrine Neoplasia (MEN) Syndromes: Genetics, Clinical Heterogeneity and Modifying Genes.儿童多发性内分泌肿瘤（MEN）综合征：遗传学、临床异质性及修饰基因

J Clin Med. 2024 Sep 18;13(18):5510. doi: 10.3390/jcm13185510.

Membrane Transporters Involved in Iron Trafficking: Physiological and Pathological Aspects.涉及铁转运的膜转运体：生理和病理方面。

Biomolecules. 2023 Jul 27;13(8):1172. doi: 10.3390/biom13081172.

New Cases of Hypochromic Microcytic Anemia Due to Mutations in the Gene and Functional Characterization of the G75R Mutation.由于基因突变导致的低色素小细胞性贫血新病例和 G75R 突变的功能特征。

Int J Mol Sci. 2022 Apr 15;23(8):4406. doi: 10.3390/ijms23084406.

Vitamin D and the Risks of Depression and Anxiety: An Observational Analysis and Genome-Wide Environment Interaction Study.维生素 D 与抑郁和焦虑风险：一项观察性分析和全基因组环境交互研究。

Nutrients. 2021 Sep 24;13(10):3343. doi: 10.3390/nu13103343.

Dynamics of Erythropoietic Biomarkers in Response to Treatment With Erythropoietin in Belgrade Rats.贝尔格莱德大鼠中促红细胞生成生物标志物对促红细胞生成素治疗反应的动力学

Front Pharmacol. 2018 Apr 10;9:316. doi: 10.3389/fphar.2018.00316. eCollection 2018.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

Hereditary hypochromic microcytic anemia associated with loss-of-function DMT1 gene mutations and absence of liver iron overload.

作者信息

机构信息

出版信息

相似文献

引用本文的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

引用本文的文献