Varaico: Literature-Extracted Genetic Variants

Gene:KLF1
Variant:p.A298P
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KLF1

NM_006563.5:p.A298P

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

Targeted next-generation sequencing and long-read HiFi sequencing provide novel insights into clinically significant KLF1 variants.

Ye L et al.

Bmc Genomics, 2024

A stepwise haematological screening and whole-exome sequencing reveal multiple mutations from SUPT5H causing an elevation of Hb A2 from a cohort of 47336 individuals.

Lou J et al.

International Journal of Laboratory Hematology, 2023

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

Caria CA et al.

Cells, 2022

Severe neonatal haemolytic anaemia caused by compound heterozygous KLF1 mutations: report of four families and literature review.

Tangsricharoen T et al.

British Journal of Haematology, 2021

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

Zakaria NA et al.

Biomolecules, 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

Corrupted DNA-binding specificity and ectopic transcription underpin dominant neomorphic mutations in KLF/SP transcription factors.

Ilsley MD et al.

Bmc Genomics, 2019

An integration-free iPSC line (MUSIi008-A) derived from a patient with severe hemolytic anemia carrying compound heterozygote mutations in KLF1 gene for disease modeling.

Potirat P et al.

Stem Cell Research, 2019

KLF1 gene and borderline hemoglobin A2 in Saudi population.

Borgio JF et al.

Archives of Medical Science : Ams, 2018

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

Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin.

Huang J et al.

European Journal of Human Genetics : Ejhg, 2015

Changes in hematological parameters in α-thalassemia individuals co-inherited with erythroid Krüppel-like factor mutations.

Yu LH et al.

Clinical Genetics, 2015

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

Delineation of the molecular basis of borderline hemoglobin A2 in Chinese individuals.

Lou JW et al.

Blood Cells, Molecules & Diseases, 2014

KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemia.

Liu D et al.

Blood, 2014

Congenital Nonspherocytic Hemolytic Anemia Caused by Krüppel-Like Factor 1 Gene Variants: Another Case Report.

Jiang H et al.

Hemoglobin, 0

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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."