scholarly journals KLF1 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Klf1 Gene

scholarly journals Differential role of Kruppel like factor 1 (KLF1) gene in red blood cell disorders

Genomics ◽  
2019 ◽  
Vol 111 (6) ◽  
pp. 1771-1776 ◽  
Author(s):  
Priya Hariharan ◽  
Roshan Colah ◽  
Kanjaksha Ghosh ◽  
Anita Nadkarni
Keyword(s):  
Blood Cell ◽  
Red Blood Cell ◽  
Klf1 Gene

scholarly journals MOLECULAR ANALYSIS OF NON-TRANSFUSION DEPENDENT THALASSEMIA ASSOCIATED WITH HEMOGLOBIN E-β-THALASSEMIA DISEASE WITHOUT α--THALASSEMIA

2019 ◽  
Vol 11 (1) ◽  
pp. e2019038 ◽  
Author(s):  
Paramee Phanrahan ◽  
Supawadee Yamsri ◽  
Nattiya Teawtrakul ◽  
Goonnapa Fucharoen ◽  
Kanokwan Sanchaisuriya ◽  
...  
Keyword(s):  
Dna Analysis ◽  
Globin Gene ◽  
Phenotypic Expression ◽  
Nucleotide Polymorphisms ◽  
Thalassemia Patient ◽  
Hemoglobin E ◽  
Modifying Factors ◽  
Myb Gene ◽  
Hb E ◽  
Klf1 Gene

Background: The finding of many Thai Hb E-β0-thalassemia patients with non-transfusion dependent thalassemia (NTDT) phenotype without co-inheritance of α-thalassemia has prompted us to investigate the existence of other genetic modifying factors. Methods: Study was done on 146 adult Thai patients with NTDT Hb E-β0-thalassemia and a homozygous β-thalassemia patient without co-inheritance of α-thalassemia. Multiple single-nucleotide polymorphisms (SNPs) associated with γ-globin gene expression including the Gγ-XmnI of HBG2 gene, rs2297339, rs4895441, and rs9399137 of the HBS1L-MYB gene, rs4671393 in the BCL11A gene, and G176AfsX179, T334R, R238H and -154 (C-T) in the KLF1 gene were investigated using PCR-and related techniques. Results: Heterozygous and homozygous for Gg-XmnI of HBG2 gene were detected at 68.0% and 6.1%, respectively. Further DNA analysis identified the rs2297339 (C-T), rs4895441 (A-G), and rs9399137 (T-C) of HBS1L-MYB gene in 86.4%, 22.5% and 20.4%, respectively. The rs4671393 (G-A) of the BCL11A gene was found at 31.3%. For the KLF1 gene, the T334R and G176AfsX179 (+/-) were detected at 8.2% and 1.4%, respectively. Conclusion: It was found that these SNPs when analyzed in combination could explain the mild phenotypic expression of all cases. These results underline the importance of these informative SNPs on phenotypic expression of Hb E-β-thalassemia patients.

Delayed fetal hemoglobin switching in subjects with KLF1 gene mutation

2012 ◽  
Vol 48 (1) ◽  
pp. 22-24 ◽  
Author(s):  
Stefania Satta ◽  
Lucia Perseu ◽  
Liliana Maccioni ◽  
Nicolina Giagu ◽  
Renzo Galanello
Keyword(s):  
Gene Mutation ◽  
Fetal Hemoglobin ◽  
Hemoglobin Switching ◽  
Klf1 Gene

Alterations on high HbF levels may be associated with KLF1 gene mutations

2017 ◽  
Vol 63 (8) ◽  
pp. 51
Author(s):  
M. Aydin ◽  
E. Rencuzogullari ◽  
S. Bayram ◽  
Y. Sevgiler ◽  
A. Genc
Keyword(s):  
Gene Mutations ◽  
Klf1 Gene

scholarly journals Novel variants in Krueppel Like Factor 1 that cause Persistence of Fetal Hemoglobin in In(Lu) individuals

2021 ◽  
Author(s):  
Jesse Eernstman ◽  
Barbera Veldhuisen ◽  
Peter Ligthart ◽  
Marieke von Lindern ◽  
Ellen van der Schoot ◽  
...  
Keyword(s):  
Flow Cytometry ◽  
Transcription Factor ◽  
Blood Group ◽  
High Frequency ◽  
Fetal Hemoglobin ◽  
Donor Group ◽  
Wild Type ◽  
Novel Variants ◽  
Klf1 Gene ◽  
Indian Blood

Abstract Beta-hemoglobinopathies become prominent after birth due to a switch from γ-globin to the mutated β-globin. Haploinsufficiency for the erythroid specific indispensable transcription factor Krueppel-like factor 1 (KLF1) is associated with high persistence of fetal hemoglobin (HPFH). The In(Lu) phenotype, characterized by low to undetectable Lutheran blood group expression is caused by mutations within KLF1 gene. These KLF1 variants often lead to KLF1 haploinsufficiency. We screened a donor cohort of 55 Lutheran weak or negative donors for KLF1 variants. To discriminate between weak and negative Lutheran expression, a flow cytometry (FCM) assay was developed to detect Lu polymorphisms. The Lu(a-b-) (negative) donor group, showing a significant decreased CD44 (Indian blood group) expression, also showed increased HbF and HbA2 levels, with outliers expressing >5% HbF. KLF1 exons and promoter sequencing revealed variants in 80% of the Lutheran negative donors. Thirteen different variants plus one high frequency SNP (c.304T>C) were identified of which 6 were novel. In primary erythroblasts, knockdown of endogenous KLF1 resulted in decreased CD44, Lu and increased HbF expression, while KLF1 over-expressing cells were comparable to wild type (WT). In line with the pleiotropic effects of KLF1 during erythropoiesis, distinct KLF1 mutants expressed in erythroblasts display different abilities to rescue CD44 and Lu expression and/or to affect fetal (HbF) or adult (HbA) hemoglobin expression.

scholarly journals Association of Ddx5/p68 protein with the upstream erythroid enhancer element (EHS1) of the Klf1 gene

2019 ◽  
Author(s):  
Xiaoyong Chen ◽  
Felix Lohmann ◽  
James J Bieker
Keyword(s):  
Transcription Factor ◽  
Expression Pattern ◽  
Transcriptional Activation ◽  
Affinity Purification ◽  
Hypersensitive Site ◽  
Enhancer Element ◽  
Restricted Expression Pattern ◽  
Dnase Hypersensitive Site ◽  
Essential Transcription Factor ◽  
Klf1 Gene

AbstractEKLF/KLF1 is an essential transcription factor that plays a global role in erythroid transcriptional activation. It’s own regulation is of interest, as it displays a highly restricted expression pattern, limited to erythroid cells and its progenitors. Here we use biochemical affinity purification to identify the Ddx5/p68 protein as a potential activator of KLF1 by virtue of its interaction with the erythroid-specific DNAse hypersensitive site (EHS1) upstream enhancer element. We postulate that its range of interactions with other proteins known to interact with this element render it part of the enhanseosome complex critical for optimal expression of KLF1.

scholarly journals KLF1 gene and borderline hemoglobin A2 in Saudi population

2018 ◽  
Vol 1 ◽  
pp. 230-236 ◽  
Author(s):  
J. Francis Borgio ◽  
Sayed AbdulAzeez ◽  
Ahmed M. Al-Muslami ◽  
Zaki A. Naserullah ◽  
Sana Al-Jarrash ◽  
...  
Keyword(s):  
Saudi Population ◽  
Klf1 Gene ◽  
Hemoglobin A2

Nine known and five novel mutations in the erythroid transcription factor KLF1 gene and phenotypic expression of fetal hemoglobin in hemoglobin E disorder

2016 ◽  
Vol 59 ◽  
pp. 85-91 ◽  
Author(s):  
Wanicha Tepakhan ◽  
Supawadee Yamsri ◽  
Kanokwan Sanchaisuriya ◽  
Goonnapa Fucharoen ◽  
Xiangmin Xu ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Phenotypic Expression ◽  
Fetal Hemoglobin ◽  
Novel Mutations ◽  
Hemoglobin E ◽  
Klf1 Gene

scholarly journals Engineered zinc‐finger nuclease to generate site‐directed modification in the KLF1 gene for fetal hemoglobin induction

2018 ◽  
Vol 120 (5) ◽  
pp. 8438-8446 ◽  
Author(s):  
Laleh Shariati ◽  
Mohammad Hossein Modarressi ◽  
Mohammad Amin Tabatabaiefar ◽  
Shirin Kouhpayeh ◽  
Zahra Hejazi ◽  
...  
Keyword(s):  
Zinc Finger ◽  
Fetal Hemoglobin ◽  
Zinc Finger Nuclease ◽  
Klf1 Gene

Functional analysis of a novel KLF1 gene promoter variation associated with hereditary persistence of fetal hemoglobin

2012 ◽  
Vol 92 (1) ◽  
pp. 53-58 ◽  
Author(s):  
Milena Radmilovic ◽  
Branka Zukic ◽  
Maja Stojiljkovic Petrovic ◽  
Marina Bartsakoulia ◽  
Biljana Stankovic ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Gene Promoter ◽  
Fetal Hemoglobin ◽  
Hereditary Persistence ◽  
Klf1 Gene
Sign in / Sign up

Export Citation Format

Share Document