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Article

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

Blood - 1 Sept 2008

Singleton Belinda K, Burton Nicholas M, Green Carole, Brady R Leo, Anstee David J

Abstract excerpt

Comparison of normal erythroblasts and erythroblasts from persons with the rare In(Lu) type of Lu(a-b-) blood group phenotype showed increased transcription levels for 314 genes and reduced levels for 354 genes in In(Lu) cells. Many erythroid-specific genes (including ALAS2, SLC4A1) had reduced t...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18487511
DOI: 10.1182/blood-2008-03-145672

Genes

ALAS2
GATA1
KLF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18487511-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

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Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype.PMID 18487511Read ↗

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

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

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

Blood group phenotypes resulting from mutations in erythroid transcription factors.Semantic proximity Read ↗

Novel variants in Krueppel like factor 1 that cause persistence of fetal hemoglobin in In(Lu) individuals.Semantic proximity Read ↗

Genetic Variants Within the Erythroid Transcription Factor, KLF1, and Reduction of the Expression of Lutheran and Other Blood Group Antigens: Review of the In(Lu) PhenotypeSemantic proximity Read ↗

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.Semantic proximity Read ↗

Mutations of the KLF1 gene detected in Japanese with the In(Lu) phenotype.Semantic proximity Read ↗

An insertion/deletion polymorphism in the KLF1 gene resulting in an In(Lu) phenotype.Semantic proximity Read ↗

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

A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia.Semantic proximity Read ↗

Identification of a novel KLF1 gene promoter variation (c.-251C > G) in a Thai blood donor with In(Lu) phenotype.Semantic proximity Read ↗

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