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

Erythrocyte ankyrin promoter mutations associated with recessive hereditary spherocytosis cause significant abnormalities in ankyrin expression.

The Journal of biological chemistry - 9 Nov 2001

Gallagher P G, Sabatino D E, Basseres D S, Nilson D M, Wong C, Cline A P, Garrett L J, Bodine D M

Abstract excerpt

Ankyrin defects are the most common cause of hereditary spherocytosis (HS). In several kindreds with recessive, ankyrin-deficient HS, mutations have been identified in the ankyrin promoter that have been proposed to decrease ankyrin synthesis. We analyzed the effects of two mutations, -108T to C and -108T to C in cis with -153G to A, on ankyrin expression. No difference between wild type and mutant promoters was...

Read the complete abstract on PubMed

Topics

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

Share to Ankyrins
Share to Gene Dosage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Globins

Share to K562 Cells

Share to Mice, Transgenic

Share to Promoter Regions, Genetic

Share to Spherocytosis, Hereditary

Share to Transfection

Source

Identifiers

PMID: 11527968
DOI: 10.1074/jbc.M105844200

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Erythrocyte ankyrin promoter mutations associated with recessive hereditary spherocytosis cause significant abnormalities in ankyrin expression.PMID 11527968Read ↗

Mutation of a barrier insulator in the human ankyrin-1 gene is associated with hereditary spherocytosis.Semantic proximity Read ↗

Comparison of the ankyrin (AC)n microsatellites in genomic DNA and mRNA reveals absence of one ankyrin mRNA allele in 20% of patients with hereditary spherocytosis.Semantic proximity Read ↗

Ankyrin gene mutations in japanese patients with hereditary spherocytosis.Semantic proximity Read ↗

A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis.Semantic proximity Read ↗

Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis.Semantic proximity Read ↗

Ankyrin-linked hereditary spherocytosis in an African-American kindred.Semantic proximity Read ↗

T to C substitution at -175 or -173 of the gamma-globin promoter affects GATA-1 and Oct-1 binding in vitro differently but can independently reproduce the hereditary persistence of fetal hemoglobin phenotype in transgenic mice.Semantic proximity Read ↗

An A gamma globin promoter (four base-pair deletion) mutant shows linked polymorphic changes throughout the A gamma gene.Semantic proximity Read ↗

Analysis of the mechanism of action of non-deletion hereditary persistence of fetal hemoglobin mutants in transgenic mice.Semantic proximity Read ↗

Clinical and molecular evaluation of non-dominant hereditary spherocytosis.Semantic proximity Read ↗

Severe Ankyrin-R deficiency results in impaired surface retention and lysosomal degradation of RhAG in human erythroblasts.Semantic proximity Read ↗

A nonsense mutation 1669Glu-->Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis.Semantic proximity Read ↗

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