Associated Papers
Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosis.
Wu C et al.
Orphanet Journal of Rare Diseases, 2024
A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.
Kager L et al.
Hemasphere, 2024
Hereditary Spherocytosis: Can Next-Generation Sequencing of the Five Most Frequently Affected Genes Replace Time-Consuming Functional Investigations?
Häuser F et al.
International Journal of Molecular Sciences, 2023
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next-generation sequencing.
Wang WJ et al.
Clinical Genetics, 2023
A Grammastola spatulata mechanotoxin-4 (GsMTx4)-sensitive cation channel mediates increased cation permeability in human hereditary spherocytosis of multiple genetic etiologies.
Vandorpe DH et al.
Haematologica, 2021
Mutational Characteristics of Causative Genes in Chinese Hereditary Spherocytosis Patients: a Report on Fourteen Cases and a Review of the Literature.
Wang D et al.
Frontiers in Pharmacology, 2021
[Clinical manifestations of erythrocyte membrane protein coding gene mutations in hereditary spherocytosis].
Sun XJ et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2018
Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis.
Wang R et al.
Science China. Life Sciences, 2018
Band 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context.
Reithmeier RA et al.
Biochimica Et Biophysica Acta, 2016
Genomic analyses reveal FAM84B and the NOTCH pathway are associated with the progression of esophageal squamous cell carcinoma.
Cheng C et al.
Gigascience, 2016
Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis.
Chu C et al.
The Biochemical Journal, 2010
Ubiquitylation-independent ER-associated degradation of an AE1 mutant associated with dominant hereditary spherocytosis in cattle.
Ito D et al.
Journal of Cell Science, 2006
Molecular and haematological studies of four families with hereditary spherocytosis resulting from band 3 deficiency.
Maciag M et al.
Acta Haematologica, 2006
Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations.
Yenchitsomanus PT et al.
Journal of Molecular and Genetic Medicine : an International Journal of Biomedical Research, 2005
Band 3 anion exchanger and its involvement in erythrocyte and kidney disorders.
Tanner MJ
Current Opinion in Hematology, 2002
Trafficking and folding defects in hereditary spherocytosis mutants of the human red cell anion exchanger.
Quilty JA et al.
Traffic (copenhagen, Denmark), 2000
[Recent data on the molecular pathology of hereditary spherocytosis].
Dhermy D
Nouvelle Revue Francaise D'hematologie, 1993
The red blood cell band 3 variant (band 3Biceêtrel:R490C) associated with dominant hereditary spherocytosis causes defective membrane targeting of the molecule and a dominant negative effect.
Dhermy D et al.
Molecular Membrane Biology, 0
An N-terminal GFP tag does not alter the functional expression to the plasma membrane of red cell and kidney anion exchanger (AE1) in mammalian cells.
Beckmann R et al.
Molecular Membrane Biology, 0
[A case of hereditary over-hydrated stomatocytosis with stomatospherocytes and spherocytes in the blood].
Kościelak J et al.
Medycyna Wieku Rozwojowego, 0