Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Blood - 15 Sept 2011

Singleton Belinda K, Lau Winnie, Fairweather Victoria S S, Burton Nicholas M, Wilson Marieangela C, Parsons Steve F, Richardson Ben M, Trakarnsanga Kongtana, Brady R Leo, Anstee David J, Frayne Jan

Abstract excerpt

Mutations in the human erythroid Krüppel-like factor (EKLF) can lead to either anemia or the benign InLu phenotype. To elucidate the relationship between these mutations and the differing phenotypes, we prepared recombinant forms of wild-type and 5 mutant EKLF proteins and quantitated their binding affinity to a range of EKLF-regulated genes. Missense mutants (R328H, R328L, and R331G) from persons with InLu...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Disease
Share to Kruppel-Like Transcription Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Models, Biological

Share to Sequence Homology, Amino Acid

Share to Severity of Illness Index

Share to Substrate Specificity

Share to Transcriptional Activation

Share to Zinc Fingers

Source

Identifiers

PMID: 21778342
DOI: 10.1182/blood-2011-04-349985

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the second zinc finger of human EKLF reduce promoter affinity but give rise to benign and disease phenotypes.PMID 21778342Read ↗

Isolation, Genomic Structure, and Expression of Human Erythroid Krüppel-Like Factor (EKLF)Semantic proximity Read ↗

Severe anemia caused by dominant mutations in Krüppel-like factor 1 (KLF1).Semantic proximity Read ↗

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

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

Silencing of human fetal globin expression is impaired in the absence of the adult beta-globin gene activator protein EKLF.Semantic proximity Read ↗

Severe anemia in the Nan mutant mouse caused by sequence-selective disruption of erythroid Kruppel-like factor.Semantic proximity Read ↗

Corrupted DNA-binding specificity and ectopic transcription underpin dominant neomorphic mutations in KLF/SP transcription factorsSemantic proximity Read ↗

Role of Erythroid Kruppel-like Factor in Human γ- to β-Globin Gene SwitchingSemantic proximity Read ↗

FKLF, a Novel Krüppel-Like Factor That Activates Human Embryonic and Fetal β-Like Globin GenesSemantic proximity Read ↗

Neomorphic effects of the neonatal anemia (Nan-Eklf) mutation contribute to deficits throughout development.Semantic proximity Read ↗

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

Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificitySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.