Erythroid phenotypes associated with KLF1 mutations.
作者信息
Borg Joseph, Patrinos George P, Felice Alex E, Philipsen Sjaak
出版信息
Haematologica. 2011 May;96(5):635-8. doi: 10.3324/haematol.2011.043265.
Abstract
摘要
相似文献
1
Erythroid phenotypes associated with KLF1 mutations.与KLF1突变相关的红系表型。
Haematologica. 2011 May;96(5):635-8. doi: 10.3324/haematol.2011.043265.
2
Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin.复合杂合突变导致胎儿血红蛋白和红细胞原卟啉显著增加。
Haematologica. 2011 May;96(5):767-70. doi: 10.3324/haematol.2010.037333. Epub 2011 Jan 27.
3
Changes in HbA2 and HbF in alpha thalassemia carriers with KLF1 mutation.携带KLF1突变的α地中海贫血携带者中HbA2和HbF的变化。
Blood Cells Mol Dis. 2017 May;64:30-32. doi: 10.1016/j.bcmd.2017.03.007. Epub 2017 Mar 18.
4
Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin.KLF1基因突变的复合杂合性与小细胞低色素性贫血及胎儿血红蛋白增加有关。
Eur J Hum Genet. 2015 Oct;23(10):1341-8. doi: 10.1038/ejhg.2014.291. Epub 2015 Jan 14.
5
Genetic variation of Krüppel-like factor 1 (KLF1) and fetal hemoglobin (HbF) levels in β-thalassemia/HbE disease.β地中海贫血/HbE病中Krüppel样因子1（KLF1）的基因变异与胎儿血红蛋白（HbF）水平
Int J Hematol. 2018 Mar;107(3):297-310. doi: 10.1007/s12185-017-2357-3. Epub 2017 Oct 24.
6
Delayed fetal hemoglobin switching in subjects with KLF1 gene mutation.KLF1 基因突变患者胎儿血红蛋白转换延迟。
Blood Cells Mol Dis. 2012 Jan 15;48(1):22-4. doi: 10.1016/j.bcmd.2011.10.003. Epub 2011 Nov 16.
7
Nine known and five novel mutations in the erythroid transcription factor KLF1 gene and phenotypic expression of fetal hemoglobin in hemoglobin E disorder.红细胞转录因子KLF1基因的9种已知突变和5种新突变以及血红蛋白E疾病中胎儿血红蛋白的表型表达
Blood Cells Mol Dis. 2016 Jul;59:85-91. doi: 10.1016/j.bcmd.2016.04.010. Epub 2016 Apr 26.
8
Molecular analysis of the rare in(Lu) blood type: toward decoding the phenotypic outcome of haploinsufficiency for the transcription factor KLF1.稀有 Lu 血型的分子分析：解析转录因子 KLF1 单倍剂量不足的表型结果
Hum Mutat. 2013 Jan;34(1):221-8. doi: 10.1002/humu.22218. Epub 2012 Nov 2.
9
KLF1 gene mutations in Chinese adults with increased fetal hemoglobin.中国成年胎儿血红蛋白升高人群中的KLF1基因突变
Hemoglobin. 2013;37(5):501-6. doi: 10.3109/03630269.2013.805304. Epub 2013 Jun 28.
10
Does the Novel KLF1 Gene Mutation Lead to a Delay in Fetal Hemoglobin Switch?新型KLF1基因突变会导致胎儿血红蛋白转换延迟吗？
Ann Hum Genet. 2017 May;81(3):125-128. doi: 10.1111/ahg.12191. Epub 2017 Mar 31.
引用本文的文献
1
The histone deacetylase inhibitor CT-101 flips the switch to fetal hemoglobin expression in sickle cell disease mice.组蛋白脱乙酰酶抑制剂CT-101可使镰状细胞病小鼠体内的开关转向胎儿血红蛋白表达。
PLoS One. 2025 May 13;20(5):e0323550. doi: 10.1371/journal.pone.0323550. eCollection 2025.
2
Generation, characterization, and use of EKLF(Klf1)/CRE knock-in mice for cell-restricted analyses.用于细胞特异性分析的EKLF（Klf1）/ CRE基因敲入小鼠的构建、表征及应用
Front Hematol. 2023;2. doi: 10.3389/frhem.2023.1292589. Epub 2024 Jan 19.
3
Spatiotemporal expression and control of haemoglobin in space.血红蛋白在太空中的时空表达和调控。
Nat Commun. 2024 Jun 11;15(1):4927. doi: 10.1038/s41467-024-49289-8.
4
C2H2 Zinc Finger Transcription Factors Associated with Hemoglobinopathies.与血红蛋白病相关的 C2H2 锌指转录因子。
J Mol Biol. 2024 Apr 1;436(7):168343. doi: 10.1016/j.jmb.2023.168343. Epub 2023 Nov 2.
5
Generation of Red Blood Cells from Human Pluripotent Stem Cells-An Update.人多能干细胞生成红细胞：最新进展
Cells. 2023 Jun 5;12(11):1554. doi: 10.3390/cells12111554.
6
Identification of a genomic DNA sequence that quantitatively modulates KLF1 transcription factor expression in differentiating human hematopoietic cells.鉴定出一个可定量调节人造血细胞分化过程中 KLF1 转录因子表达的基因组 DNA 序列。
Sci Rep. 2023 May 10;13(1):7589. doi: 10.1038/s41598-023-34805-5.
7
Lin PU.1 GATA-1 defines haematopoietic stem cells with long-term multilineage reconstitution activity.林朴. GATA-1 定义了具有长期多谱系重建活性的造血干细胞。
Cell Prolif. 2023 Nov;56(11):e13490. doi: 10.1111/cpr.13490. Epub 2023 May 5.
8
Identification and Functional Analysis of Known and New Mutations in the Transcription Factor KLF1 Linked with β-Thalassemia-like Phenotypes.与β地中海贫血样表型相关的转录因子KLF1中已知和新突变的鉴定及功能分析
Biology (Basel). 2023 Mar 28;12(4):510. doi: 10.3390/biology12040510.
9
A novel human cellular model of CDA IV enables comprehensive analysis revealing the molecular basis of the disease phenotype.一种新型的人类 CDA IV 细胞模型可实现全面分析，揭示疾病表型的分子基础。
Blood. 2023 Jun 22;141(25):3039-3054. doi: 10.1182/blood.2022018735.
10
Epigenomic analysis of KLF1 haploinsufficiency in primary human erythroblasts.KLF1 单倍体不足症在原代人红细胞中的表观基因组分析。
Sci Rep. 2022 Jan 10;12(1):336. doi: 10.1038/s41598-021-04126-6.
本文引用的文献
1
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.采用微量归因方法对血红蛋白病的人类遗传变异进行系统的文献记载和分析。
Nat Genet. 2011 Mar 20;43(4):295-301. doi: 10.1038/ng.785.
2
Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin.复合杂合突变导致胎儿血红蛋白和红细胞原卟啉显著增加。
Haematologica. 2011 May;96(5):767-70. doi: 10.3324/haematol.2010.037333. Epub 2011 Jan 27.
3
A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia.一个编码红细胞转录因子 KLF1 的基因中的显性突变导致先天性红细胞生成异常性贫血。
Am J Hum Genet. 2010 Nov 12;87(5):721-7. doi: 10.1016/j.ajhg.2010.10.010. Epub 2010 Nov 4.
4
Severe anemia in the Nan mutant mouse caused by sequence-selective disruption of erythroid Kruppel-like factor.Nan 突变鼠由于红细胞 Kruppel 样因子序列选择性缺失导致严重贫血。
Proc Natl Acad Sci U S A. 2010 Aug 24;107(34):15151-6. doi: 10.1073/pnas.1004996107. Epub 2010 Aug 9.
5
Mutation in erythroid specific transcription factor KLF1 causes Hereditary Spherocytosis in the Nan hemolytic anemia mouse model.红细胞特异性转录因子 KLF1 突变导致 Nan 溶血性贫血小鼠模型中的遗传性球形红细胞增多症。
Genomics. 2010 Nov;96(5):303-7. doi: 10.1016/j.ygeno.2010.07.009. Epub 2010 Aug 5.
6
Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin.红系转录因子 KLF1 的杂合子缺失导致遗传性胎儿血红蛋白持续存在。
Nat Genet. 2010 Sep;42(9):801-5. doi: 10.1038/ng.630. Epub 2010 Aug 1.
7
KLF1 regulates BCL11A expression and gamma- to beta-globin gene switching.KLF1 调节 BCL11A 的表达和 γ 到β珠蛋白基因的转换。
Nat Genet. 2010 Sep;42(9):742-4. doi: 10.1038/ng.637. Epub 2010 Aug 1.
8
Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A.人类胎儿血红蛋白的表达受发育阶段特异性阻遏物BCL11A调控。
Science. 2008 Dec 19;322(5909):1839-42. doi: 10.1126/science.1165409. Epub 2008 Dec 4.
9
Failure of terminal erythroid differentiation in EKLF-deficient mice is associated with cell cycle perturbation and reduced expression of E2F2.EKLF 缺陷小鼠终末红系分化失败与细胞周期紊乱及 E2F2 表达降低有关。
Mol Cell Biol. 2008 Dec;28(24):7394-401. doi: 10.1128/MCB.01087-08. Epub 2008 Oct 13.
10
Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype.EKLF/KLF1基因的突变构成了罕见血型In(Lu)表型的分子基础。
Blood. 2008 Sep 1;112(5):2081-8. doi: 10.1182/blood-2008-03-145672. Epub 2008 May 16.
Zotero 插件