KLF1 Antibody

1. KLF1 promoted metastasis and invasion via the PI3K/Akt signaling pathway in cervical cancer cells. PMID: 30132534
2. 3 new mutations were found KLF1*90A (p.Trp30Ter), KLF*911A (p.Thr304Lys), and KLF1*304C,318G (p. Ser102Pro, Tyr106Ter) in 2 unrelated individuals. 2 others had c.954dupG (p.Arg319Glufs*34), that is, KLF1*BGM06. A child with unexplained anemia had c.973G>A (p.Glu325Lys), associated with congenital dyserythropoietic anemia. The common c.304T>C was found in 2 of 7 samples and 60 of 100 blood donors. PMID: 29047116
3. 4 individuals who were Lua and Lub negative were identified from 5420 unrelated blood donors. KLF1 allele with c.199delA and c.304T>C in Exon 2 was identified in one individual, which caused a frameshift at AA67 and formed a new premature stop codon at nucleotide position 708 p.(Gly68AlafsTer236). One KLF1 allele with c.304T>C and c.604G>A was found in another, which resulted which resulted in p.Ser102Pro and p.Gly202A. PMID: 29193102
4. AsquareChinesesquarefamilysquarewithsquareKLF1squaremutationsquarecausingsquaremildsquarebeta-squarethalassemia PMID: 29393578
5. Changes in HbA2 and HbF in alpha thalassemia carriers with KLF1 mutation. PMID: 28342932
6. Reduction of KLF1 expression in beta(0)-thalassemia/HbE erythroblasts can increase HbF levels. PMID: 29067594
7. Alterations in high HbF levels may be associated with KLF1 gene mutations. PMID: 28886314
8. KLF1 enhancer sequence is frequently hypermethylated in juvenile myelomonocytic leukemia. PMID: 28749240
9. Findings suggest that the induction of an indel mutation in the Kruppel like factor 1 (KLF1) gene leading to a null allele. PMID: 27668420
10. KLF1 is an important genetic factor associated with increased Hb F and in combination with other modifying factors could explain the phenotypic variation of Hb F expression in this common hemoglobinopathy. PMID: 27282573
11. Activation of KLF1 at day 10 of the differentiation process when hematopoietic progenitor cells were present, enhanced erythroid commitment and differentiation. PMID: 28026072
12. Hereditary persistence of fetal hemoglobin in two patients with KLF1 haploinsufficiency due to 19p13.2-p13.12/13 deletion PMID: 27701781
13. NF-E2, TAL1 and KLF1, all activators play a primary role in HSs formation in the LCR PMID: 27026582
14. Introduction of the British HPFH mutation into the fetal globin promoter in a human cell model causes elevated fetal globin expression. The British HPFH mutation creates a de novo binding site both in vitro and in vivo for the potent erythroid activator KLF1. PMID: 28659276
15. A hypothesis on possible liaisons between mutations in the gene encoding EKLF and resistance to pathogens is presented. PMID: 27708211
16. study reports a novel KLF1 mutation codon 211 A-->G (c.632 A>G) in a family with beta-hemoglobinopathy showing a considerable increase in the HbF level, thus supporting the role of KLF1 in hemoglobin switching PMID: 28369821
17. seven new alleles in the KLF1 gene, which are presumed to act dominantly to silence LU expression, were identified PMID: 27043150
18. The prevalence of the In(Lu) phenotype in the Japanese population was 0.02%, and we identified 13 known and 21 novel KLF1 alleles. The KLF1 mutations cause the reduced expression of the P1 antigen. PMID: 28194794
19. A novel heterozygous mutation was identified in a highly conserved residue in the COOH-terminus of the Kruppel-like factor 1, R360H, that likely altered DNA-binding and impaired transactivation PMID: 27821015
20. Our study highlighted two novel promoter KLF1 and 3'-region C/EBPalpha motifs in the phenylalanine hydroxylase (PAH) gene which decrease transcription in vitro and, thus, could be considered as PAH expression modifiers. PMID: 27447460
21. a broad range of hitherto unrelated human red cell disorders are caused by variants in KLF1, a master regulator of erythropoiesis, which were previously considered to be extremely rare causes of human genetic disease [review] PMID: 26903544
22. results suggest that KLF1 directly regulates the beta-globin gene, but probably has less direct impact on expression of the gamma-globin gene in fetal erythroblasts PMID: 26840243
23. A KLF1-targeted promoter-reporter assay showed that the two mutations reduce the expression of the HBB, BCL11A, and CD44 genes involved in erythropoiesis. PMID: 25585695
24. erythrocyte lineage enforces exclusivity through upregulation of EKLF and its lineage-specific cytokine receptor (EpoR) while inhibiting both FLI-1 and the receptor TpoR (also known as MPL) for the opposing megakaryocyte lineage PMID: 26159733
25. Studies indicate that Kruppel-like factor 1 (KLF1) mutations have been associated with severe hematologic disorders. PMID: 25976964
26. a successful induction of gamma-globin includes a reduction in BCL11A, KLF1 and TAL1 expression. PMID: 26053062
27. The study identified the DEK oncoprotein as a critical factor that interacts with an essential upstream enhancer element of the EKLF promoter and exerts a positive effect on EKLF levels. PMID: 26303528
28. Here we describe a Japanese patient with mild beta-thalassemia with an intact beta-globin gene but a new missense mutation of c.947G > A or p.C316Y in the KLF1 gene which is strongly associated with the expression of the beta-globin gene. PMID: 25690802
29. The patient with the p.F182L variant (KLF1: c.544T > C) had noticeably high Hb A2 levels (7.6%), consistent with the phenotypic effect of several previously characterized KLF1 mutations in the same exonic region. PMID: 25583416
30. These results indicate that KLF1 plays a role in facilitating and/or stabilizing GATA-1 and TAL1 occupancy in the erythroid genes, contributing to the generation of active chromatin structure such as histone acetylation and chromatin looping PMID: 25528728
31. SCF-mediated gamma-globin gene expression in adult human erythroid cells is associated with KLF1, BCL11A and SOX6 down-regulation. PMID: 25457384
32. KLF1 mutations are associated with increased hemoglobin F and A2 expression. PMID: 25694242
33. Described is a case of severe neonatal anemia with kernicterus caused by compound heterozygosity for null mutations in KLF1, each inherited from asymptomatic parents. One of the mutations is novel. This is the first described case of a KLF1-null human. PMID: 25724378
34. Molecular defect in the alpha-globin and beta-globin genes, and in the KLF1 gene were found in the borderline hemoglobin A2 Chinese individuals. PMID: 24857170
35. expression of erythroid Kruppel-like factor (EKLF) precedes PlGF, and its enforced expression in erythroid progenitor cells induces PlGF mRNA PMID: 24916507
36. findings suggest that KLF1 mutations occur selectively in the presence of beta-thalassemia to increase the production of HbF, which in turn ameliorates the clinical severity of beta-thalassemia. PMID: 24829204
37. Select activation-degradation regions like the ones found in EKLF and SREBP1a function in part through their ability to form noncovalent interactions with ubiquitin. PMID: 24139988
38. The frequency of rare Lu(a-b-) blood group in Shanghai was approximately 0.02%, and all the individuals had an In(Lu) phenotype. The molecular basis of such samples may be related to mutations in the EKLF/KLF1 gene. PMID: 24711040
39. Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression. PMID: 24443441
40. Data suggest that the Kruppel-like factor 1 (KLF) mutations could be one of the causes of hereditary persistence of fetal hemoglobin (HPFH) in regions where thalassemias are common. PMID: 23806141
41. KLF1 conscripts the adult-stage beta-globin gene to replace the gamma-globin gene within the active chromatin hub in a stage-specific manner. PMID: 23474875
42. Regulators, including BCL11A, MYB, and KLF1, hold great promise to develop targeted and more effective approaches for HbF induction PMID: 23209159
43. Data show that KLF1 haploinsufficiency is responsible for the In(Lu) blood type. PMID: 23125034
44. Simvastatin and tBHQ suppress KLF1 and BCL11 gene expression and additively increase fetal hemoglobin in primary human erythroid cells. PMID: 23223429
45. The 1st KLF1 gene promoter mutation (KLF1:g.-148G > A) associated with increased HbF resides in an Sp1 binding site & prevents Sp1 binding. It is involved in human fetal globin gene switching. PMID: 23161389
46. EKLF mRNA level was significantly decreased in the blood and bone marrow of 5q- syndrome and in all Diamond-Blackfan anemia patients. PMID: 22965552
47. Mutated KLF1 results in delayed fetal hemoglobin switching in humans, confirming previous in vitro and animal studies and the crucial role of KLF1 in regulating globin gene expression. PMID: 22093801
48. Studies show that Ppm1b plays a multilayered role in regulating the availability and optimal activity of the EKLF protein in erythroid cells. PMID: 22393050
49. KLF1 mutations could make a significant contribution to Hb F variance in malarial regions where hemogobinopathies are common. A single altered KLF1 allele is sufficient to increase Hb F levels. PMID: 22102705
50. Six different KLF1 mutations were identified in 52 of 145 subjects with borderline HBA2 and normal mean corpuscular volume and mean corpuscular hemoglobin. PMID: 21821711

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HGNC: 6345

OMIM: 111150

KEGG: hsa:10661

STRING: 9606.ENSP00000264834

UniGene: Hs.37860