ArticleThe Journal of clinical investigation1992
Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene.
Article in The Journal of clinical investigation, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 51 citations in OpenAlex.
- Cytoskeletal Protein 4.1R in Health and Diseases.Biomolecules · 2024Review
- [Clinical and gene mutation characteristics of patients with hereditary ellipsocytosis: nine cases report and literature review].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2023Review
- Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.Blood cells, molecules & diseases · 2016Article
- Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia.Cold Spring Harbor molecular case studies · 2016Article
- Article
- 4.1R-deficient human red blood cells have altered phosphatidylserine exposure pathways and are deficient in CD44 and CD47 glycoproteins.Haematologica · 2009Article
- Protein 4.1R-deficient mice are viable but have erythroid membrane skeleton abnormalities.The Journal of clinical investigation · 1999Article
- Rhmod syndrome: a family study of the translation-initiator mutation in the Rh50 glycoprotein gene.American journal of human genetics · 1999Article
- Role of tissue specific alternative pre-mRNA splicing in the differentiation of the erythrocyte membrane.Transactions of the American Clinical and Climatological Association · 1997Review
- Protein 4.1 deficiency associated with an altered binding to the spectrin-actin complex of the red cell membrane skeleton.The Journal of clinical investigation · 1994Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We studied a 43 yr-old Spanish patient with homozygous 4.1(-) hereditary elliptocytosis. Any form of protein 4.1 was missing in the red cells. Spectrin and actin were slightly, yet significantly, diminished. Alterations appeared at the level of proteins 4.5 and 4.9. Glycophorin C was sharply reduced. The abnormal allele was associated with the -++-- haplotype (Pvu II, Bgl II, Bgl II, Pvu II, Pvu II). mRNA 4.1(-) had an apparently normal size but was diminished by about two-thirds. Because the abnormal phenotype pertained to the red cell, we sequenced the 4.1 cDNA regions that appear critical to this cell type. The ultimate change turned out to be a point mutation of the downstream translation initiation codon (AUG-->AGG). No disorders in other cell types could be related with certainty to the present 4.1(-) HE allele.
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