Varaico: Literature-Extracted Genetic Variants

Gene:KLF1
Variant:p.K288*
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KLF1

NM_006563.5:p.K288*

Associated Papers

Genetic Polymorphisms Associated with Fetal Hemoglobin (HbF) Levels and F-Cell Numbers: A Systematic Review of Genome-Wide Association Studies.

Stephanou C et al.

International Journal of Molecular Sciences, 2024

C2H2 Zinc Finger Transcription Factors Associated with Hemoglobinopathies.

Zhang X et al.

Journal of Molecular Biology, 2024

Erythroid Krüppel-Like Factor (KLF1): A Surprisingly Versatile Regulator of Erythroid Differentiation.

Bieker JJ et al.

Advances in Experimental Medicine and Biology, 2024

Krüppel-Like Factor 1: A Pivotal Gene Regulator in Erythropoiesis.

Caria CA et al.

Cells, 2022

Epigenomic analysis of KLF1 haploinsufficiency in primary human erythroblasts.

Heshusius S et al.

Scientific Reports, 2022

Compound Heterozygosity for KLF1 Mutations Causing Hemolytic Anemia in Children: A Case Report and Literature Review.

Xu L et al.

Frontiers in Genetics, 2021

Mild dyserythropoiesis and β-like globin gene expression imbalance due to the loss of histone chaperone ASF1B.

Papadopoulos P et al.

Human Genomics, 2020

Comparative targeting analysis of KLF1, BCL11A, and HBG1/2 in CD34+ HSPCs by CRISPR/Cas9 for the induction of fetal hemoglobin.

Lamsfus-Calle A et al.

Scientific Reports, 2020

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

Hariharan P et al.

Genomics, 2019

Engineered zinc-finger nuclease to generate site-directed modification in the KLF1 gene for fetal hemoglobin induction.

Shariati L et al.

Journal of Cellular Biochemistry, 2019

The Pleiotropic Effects of GATA1 and KLF1 in Physiological Erythropoiesis and in Dyserythropoietic Disorders.

Barbarani G et al.

Frontiers in Physiology, 2019

Molecular basis of β thalassemia and potential therapeutic targets.

Thein SL

Blood Cells, Molecules & Diseases, 2018

Novel mutations in KLF1 encoding the In(Lu) phenotype reflect a diversity of clinical presentations.

Keller J et al.

Transfusion, 2018

Genetic Basis and Genetic Modifiers of β-Thalassemia and Sickle Cell Disease.

Thein SL

Advances in Experimental Medicine and Biology, 2017

Can mutations in the gene encoding transcription factor EKLF (Erythroid Krüppel-Like Factor) protect us against infectious and parasitic diseases?

Mikołajczyk K et al.

Postepy Higieny I Medycyny Doswiadczalnej (online), 2016

Genetic disruption of the KLF1 gene to overexpress the γ-globin gene using the CRISPR/Cas9 system.

Shariati L et al.

The Journal of Gene Medicine, 2016

Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants.

Perkins A et al.

Blood, 2016

Original Research: A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease.

Liu L et al.

Experimental Biology and Medicine (maywood, N.j.), 2016

Krüppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations.

Waye JS et al.

International Journal of Laboratory Hematology, 2015

Erythro-megakaryocytic transcription factors associated with hereditary anemia.

Crispino JD et al.

Blood, 2014

Erythroid transcription factor EKLF/KLF1 mutation causing congenital dyserythropoietic anemia type IV in a patient of Taiwanese origin: review of all reported cases and development of a clinical diagnostic paradigm.

Jaffray JA et al.

Blood Cells, Molecules & Diseases, 2013

Three fingers on the switch: Krüppel-like factor 1 regulation of γ-globin to β-globin gene switching.

Tallack MR et al.

Current Opinion in Hematology, 2013

Molecular analysis of the rare in(Lu) blood type: toward decoding the phenotypic outcome of haploinsufficiency for the transcription factor KLF1.

Helias V et al.

Human Mutation, 2013

KLF1 gene mutations in Chinese adults with increased fetal hemoglobin.

Wang T et al.

Hemoglobin, 2013

Blood group phenotypes resulting from mutations in erythroid transcription factors.

Singleton BK et al.

Current Opinion in Hematology, 2012

Delayed fetal hemoglobin switching in subjects with KLF1 gene mutation.

Satta S et al.

Blood Cells, Molecules & Diseases, 2012

KLF1 gene mutations cause borderline HbA(2).

Perseu L et al.

Blood, 2011

Mutations in the second zinc finger of human EKLF reduce promoter affinity but give rise to benign and disease phenotypes.

Singleton BK et al.

Blood, 2011

Recent advances in β-thalassemias.

Cao A et al.

Pediatric Reports, 2011

Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin.

Satta S et al.

Haematologica, 2011

Congenital dyserythropoietic anemias.

Iolascon A et al.

Current Opinion in Hematology, 2011

Erythroid phenotypes associated with KLF1 mutations.

Borg J et al.

Haematologica, 2011

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.

Giardine B et al.

Nature Genetics, 2011

Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin.

Borg J et al.

Nature Genetics, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."