An isoform-specific mutation in the protein 4.1 gene results in hereditary elliptocytosis and complete deficiency of protein 4.1 in erythrocytes but not in nonerythroid cells

An isoform-specific mutation in the protein 4.1 gene results in hereditary elliptocytosis and complete deficiency of protein 4.1 in erythrocytes but not in nonerythroid cells

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http://www.wikidata.org/entity/Q24618310
Postcapillary venule endothelial cells in kidney express a multispecific chemokine receptor that is structurally and functionally identical to the erythroid isoform, which is the Duffy blood group antigenThe Duffy antigen/receptor for chemokines (DARC) is expressed in endothelial cells of Duffy negative individuals who lack the erythrocyte receptorDrosophila coracle, a member of the protein 4.1 superfamily, has essential structural functions in the septate junctions and developmental functions in embryonic and adult epithelial cells.Protein 4.1R-deficient mice are viable but have erythroid membrane skeleton abnormalities.Hereditary spherocytosis and hereditary elliptocytosis: aberrant protein sorting during erythroblast enucleationDifferentiation-associated switches in protein 4.1 expression. Synthesis of multiple structural isoforms during normal human erythropoiesis.Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell TraitsStructural protein 4.1 in the nucleus of human cells: dynamic rearrangements during cell division.Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia.Alternatively spliced exon 5 of the FERM domain of protein 4.1R encodes a novel binding site for erythrocyte p55 and is critical for membrane targeting in epithelial cells.Cardiac cytoskeleton and arrhythmia: an unexpected role for protein 4.1R in cardiac excitability.The genes raw and ribbon are required for proper shape of tubular epithelial tissues in Drosophila.ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders.
P2860

An isoform-specific mutation in the protein 4.1 gene results in hereditary elliptocytosis and complete deficiency of protein 4.1 in erythrocytes but not in nonerythroid cells

Item
http://www.wikidata.org/entity/Q24618310
description
1993 nî lūn-bûn
@nan
1993 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
An isoform-specific mutation i ...... but not in nonerythroid cells
@ast
An isoform-specific mutation i ...... but not in nonerythroid cells
@en
An isoform-specific mutation i ...... but not in nonerythroid cells
@nl
type
label
An isoform-specific mutation i ...... but not in nonerythroid cells
@ast
An isoform-specific mutation i ...... but not in nonerythroid cells
@en
An isoform-specific mutation i ...... but not in nonerythroid cells
@nl
prefLabel
An isoform-specific mutation i ...... but not in nonerythroid cells
@ast
An isoform-specific mutation i ...... but not in nonerythroid cells
@en
An isoform-specific mutation i ...... but not in nonerythroid cells
@nl
P1433
P1476
P2093
P2860
P304
P31
P3181
P356
P407
P433
P478
P577
P698
P932
P3181
P356
P1433
P1476
An isoform-specific mutation i ...... but not in nonerythroid cells
@en
P2093
P2860
P304
P31
P3181
P356
P407
P433
P478
P577
P698
P932