Varaico: Literature-Extracted Genetic Variants

Gene:KLF1
Variant:p.R328H
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KLF1

NM_006563.5:p.R328H

Associated Papers

Genotype-Phenotype Correlation of Seven Known and Novel β-Globin Gene Variants.

Singha K et al.

International Journal of Molecular Sciences, 2025

Molecular and haematological characterisation of haemolytic anaemia associated with biallelic KLF1 mutations: a case series.

Singha K et al.

Journal of Clinical Pathology, 2024

Global analysis of suppressor mutations that rescue human genetic defects.

Ünlü B et al.

Genome Medicine, 2023

37821946 (PubMed )
Supplement: 13073_2023_1232_MOESM3_ESM.xlsx › Data

Hemoglobin EE disease in young Laotian children: Hematologic features and the contributions of genetic variations to Hb F expression.

Arong A et al.

International Journal of Laboratory Hematology, 2023

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

Caria CA et al.

Cells, 2022

Thalassemia and erythroid transcription factor KLF1 mutations associated with borderline hemoglobin A2 in the Thai population.

Srivorakun H et al.

Archives of Medical Science : Ams, 2022

Epigenetic Insights and Potential Modifiers as Therapeutic Targets in β-Thalassemia.

Zakaria NA et al.

Biomolecules, 2021

Congenital Anemia Phenotypes Due to KLF1 Mutations.

Perkins AC et al.

Journal of Pediatric Hematology/oncology, 2021

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

Xu L et al.

Frontiers in Genetics, 2021

Dominant β-thalassaemia with unusually high Hb A2 and Hb F caused by βCD121(-G) (HBB:c.364delG) in exon 3 of β-globin gene.

Singha K et al.

Journal of Clinical Pathology, 2020

Molecular Analysis of Non-Transfusion Dependent Thalassemia Associated with Hemoglobin E-β-Thalassemia Disease without α-Thalassemia.

Phanrahan P et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2019

Mutations of the KLF1 gene detected in Japanese with the In(Lu) phenotype.

Kawai M et al.

Transfusion, 2017

Promiscuous DNA-binding of a mutant zinc finger protein corrupts the transcriptome and diminishes cell viability.

Gillinder KR et al.

Nucleic Acids Research, 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

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

Tepakhan W et al.

Blood Cells, Molecules & Diseases, 2016

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

Perkins A et al.

Blood, 2016

Krüppel-like factor 1 mutations and expression of hemoglobins F and A2 in homozygous hemoglobin E syndrome.

Tepakhan W et al.

Annals of Hematology, 2015

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

Waye JS et al.

International Journal of Laboratory Hematology, 2015

A new Krüppel-like factor 1 mutation (c.947G > A or p.C316Y) in humans causes β-thalassemia minor.

Nitta T et al.

Hemoglobin, 2015

Erythro-megakaryocytic transcription factors associated with hereditary anemia.

Crispino JD et al.

Blood, 2014

Blood group phenotypes resulting from mutations in erythroid transcription factors.

Singleton BK et al.

Current Opinion in Hematology, 2012

Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults.

Gallienne AE et al.

Haematologica, 2012

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

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

Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype.

Singleton BK et al.

Blood, 2008

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