Associated Papers
Hereditary Anemias as a Monogenic Etiology for Nonimmune Hydrops Fetalis.
Makhamreh MM et al.
Clinical Therapeutics, 2026
STING and VDAC inhibitors attenuate inflammation and ineffective erythropoiesis caused by an altered metabolome in the Nan (EKLF/E339D) mouse model of neonatal anemia.
Arif T et al.
Biorxiv : the Preprint Server for Biology, 2025
KLF1 coordinates specialized transcriptional networks required to maintain the integrity of terminal erythropoiesis.
Gnanapragasam MN et al.
Journal of Cell Science, 2025
Comment on: Congenital dyserythropoietic anemia type IV with KLF1 E325K mutation: A new case with dysmorphic male genitalia. Report of a second case.
Dorosh O et al.
Pediatric Blood & Cancer, 2024
Molecular and haematological characterisation of haemolytic anaemia associated with biallelic KLF1 mutations: a case series.
Singha K et al.
Journal of Clinical Pathology, 2024
Congenital dyserythropoietic anemia type IV with KLF1 E325K mutation: A new case with dysmorphic male genitalia.
Massey GV et al.
Pediatric Blood & Cancer, 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
Erythroid Krüppel-Like Factor (KLF1): A Surprisingly Versatile Regulator of Erythroid Differentiation.
Bieker JJ et al.
Advances in Experimental Medicine and Biology, 2024
Mendelian inheritance revisited: dominance and recessiveness in medical genetics.
Zschocke J et al.
Nature Reviews. Genetics, 2023
Benign clinical phenotype of co-inherited congenital dyserythropoietic anaemia type I and heterozygous haemoglobin Lepore.
Li EW et al.
European Journal of Haematology, 2023
A novel human cellular model of CDA IV enables comprehensive analysis revealing the molecular basis of the disease phenotype.
Ferrer-Vicens I et al.
Blood, 2023
Hematopoietic cell transplantation for congenital dyserythropoietic anemia IV caused by compound heterozygous KLF1 mutations.
Yang K et al.
Annals of Hematology, 2023
Congenital dyserythropoietic anemia type IV in the genetic era: A rare neonatal case report of rapid identification with a review of the literature.
Deguise MO et al.
Pediatric Blood & Cancer, 2023
Modelling the erythroblastic island niche of dyserythropoietic anaemia type IV patients using induced pluripotent stem cells.
May A et al.
Frontiers in Cell and Developmental Biology, 2023
EKLF/Klf1 regulates erythroid transcription by its pioneering activity and selective control of RNA Pol II pause-release.
Mukherjee K et al.
Cell Reports, 2022
Krüppel-Like Factor 1: A Pivotal Gene Regulator in Erythropoiesis.
Caria CA et al.
Cells, 2022
The congenital dyserythropoieitic anemias: genetics and pathophysiology.
King R et al.
Current Opinion in Hematology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 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
High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study.
Al-Kouatly HB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR).
Niss O et al.
Blood Cells, Molecules & Diseases, 2021
Hemoglobin switching in mice carrying the Klf1Nan variant.
Korporaal A et al.
Haematologica, 2021
Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene.
Méndez M et al.
Annals of Hematology, 2021
Congenital dyserythropoietic anemia type IV with high fetal hemoglobin caused by heterozygous KLF1 p.Glu325Lys: first report in an Indian infant.
Jamwal M et al.
Annals of Hematology, 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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
A new role of glutathione peroxidase 4 during human erythroblast enucleation.
Ouled-Haddou H et al.
Blood Advances, 2020
A Very Rare Congenital Dyserythropoietic Anemia Variant-Type IV in a Patient With a Novel Mutation in the KLF1 Gene: A Case Report and Review of the Literature.
Belgemen-Ozer T et al.
Journal of Pediatric Hematology/oncology, 2020
Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Congenital Anemias.
Steinberg-Shemer O et al.
Molecular Diagnosis & Therapy, 2020
A Krüppel-like factor 1 (KLF1) Mutation Associated with Severe Congenital Dyserythropoietic Anemia Alters Its DNA-Binding Specificity.
Kulczynska K et al.
Molecular and Cellular Biology, 2020
Congenital Hemolytic Anemias: Is There a Role for the Immune System?
Zaninoni A et al.
Frontiers in Immunology, 2020
Differential role of Kruppel like factor 1 (KLF1) gene in red blood cell disorders.
Hariharan P et al.
Genomics, 2019
Genetic disarray follows mutant KLF1-E325K expression in a congenital dyserythropoietic anemia patient.
Varricchio L et al.
Haematologica, 2019
A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β-thalassemia major.
Fanis P et al.
Human Mutation, 2019
Corrupted DNA-binding specificity and ectopic transcription underpin dominant neomorphic mutations in KLF/SP transcription factors.
Ilsley MD et al.
Bmc Genomics, 2019
The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I.
Roy NBA et al.
British Journal of Haematology, 2019
KLF1 mutation E325K induces cell cycle arrest in erythroid cells differentiated from congenital dyserythropoietic anemia patient-specific induced pluripotent stem cells.
Kohara H et al.
Experimental Hematology, 2019
The Pleiotropic Effects of GATA1 and KLF1 in Physiological Erythropoiesis and in Dyserythropoietic Disorders.
Barbarani G et al.
Frontiers in Physiology, 2019
The mouse KLF1 Nan variant impairs nuclear condensation and erythroid maturation.
Cantú I et al.
Plos One, 2019
Clinical and genetic features of congenital dyserythropoietic anemia (CDA).
Moreno-Carralero MI et al.
European Journal of Haematology, 2018
Mutant KLF1 in Adult Anemic Nan Mice Leads to Profound Transcriptome Changes and Disordered Erythropoiesis.
Nébor D et al.
Scientific Reports, 2018
A Case of Congenital Dyserythropoeitic Anemia Type IV Caused by E325K Mutation in Erythroid Transcription Factor KLF1.
Ortolano R et al.
Journal of Pediatric Hematology/oncology, 2018
KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV: Insights Into the Variable Clinical Severity.
Ravindranath Y et al.
Journal of Pediatric Hematology/oncology, 2018
Variable serologic and other phenotypes due to KLF1 mutations.
Gillinder K et al.
Transfusion, 2018
Survey and evaluation of mutations in the human KLF1 transcription unit.
Gnanapragasam MN et al.
Scientific Reports, 2018
Novel mutations in KLF1 encoding the In(Lu) phenotype reflect a diversity of clinical presentations.
Keller J et al.
Transfusion, 2018