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Quoted phrase not found in phrase index: "Hereditary spherocytosis type 4"
Page 1
Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders.
Da Costa L, Galimand J, Fenneteau O, Mohandas N. Da Costa L, et al. Blood Rev. 2013 Jul;27(4):167-78. doi: 10.1016/j.blre.2013.04.003. Epub 2013 May 9. Blood Rev. 2013. PMID: 23664421 Review.
Hereditary spherocytosis and elliptocytosis are the two most common inherited red cell membrane disorders resulting from mutations in genes encoding various red cell membrane and skeletal proteins. ...Defects in various proteins involved in linking the lipid bilayer …
Hereditary spherocytosis and elliptocytosis are the two most common inherited red cell membrane disorders resulting from mutat …
A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country.
Aly NH, Elalfy MS, Elhabashy SA, Mowafy NM, Russo R, Andolfo I, Iolascon A, Ragab IA. Aly NH, et al. Blood Cells Mol Dis. 2023 Nov;103:102779. doi: 10.1016/j.bcmd.2023.102779. Epub 2023 Jul 16. Blood Cells Mol Dis. 2023. PMID: 37558589
The diagnoses also showed a combined diagnosis of hereditary spherocytosis (HS) and alpha thalassemia minor, and a combined diagnosis of iron deficiency anemia and beta thalassemia minor, while 15 % remained undiagnosed. In the normocytic group, the diagnosis reveal …
The diagnoses also showed a combined diagnosis of hereditary spherocytosis (HS) and alpha thalassemia minor, and a combined di …
Red blood cell membrane disorders.
Tse WT, Lux SE. Tse WT, et al. Br J Haematol. 1999 Jan;104(1):2-13. doi: 10.1111/j.1365-2141.1999.01130.x. Br J Haematol. 1999. PMID: 10027705 Free article. Review.
The recent discovery of the specific molecular defects in many patients with hereditary spherocytosis and hereditary elliptocytosis/pyropoikilocytosis partially clarifies the molecular pathology of these diseases. ...These involve the five proteins that link …
The recent discovery of the specific molecular defects in many patients with hereditary spherocytosis and hereditary el …
Hereditary spherocytosis in children: profile and post-splenectomy outcome.
Das A, Bansal D, Das R, Trehan A, Marwaha RK. Das A, et al. Indian Pediatr. 2014 Feb;51(2):139-41. doi: 10.1007/s13312-014-0348-5. Indian Pediatr. 2014. PMID: 24632695 Free article.
OBJECTIVE: To describe profile of 82 children with hereditary spherocytosis diagnosed over a period of 27 years (1985-2011) from a single center. ...Twenty-six (32%) underwent splenectomy and were followed for a median duration of 4.5 years. Two (7.7%) childr …
OBJECTIVE: To describe profile of 82 children with hereditary spherocytosis diagnosed over a period of 27 years (1985-2011) fr …
Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum.
More TA, Devendra R, Dongerdiye R, Warang P, Kedar P. More TA, et al. Mol Genet Genomics. 2023 Mar;298(2):427-439. doi: 10.1007/s00438-022-01984-1. Epub 2023 Jan 4. Mol Genet Genomics. 2023. PMID: 36598564
Hereditary Spherocytosis (HS) is a common cause of hemolytic anemia varying from mild to severe hemolysis due to defects in red cell membrane protein genes, namely ANK1, SPTB, SPTA1, SLC4A1, and EPB42. ...We identified 13 novel and 8 reported variants, mainly 9 fram …
Hereditary Spherocytosis (HS) is a common cause of hemolytic anemia varying from mild to severe hemolysis due to defects in re …
Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study in 150 patients grouped according to molecular and clinical characteristics.
Bianchi P, Fermo E, Vercellati C, Marcello AP, Porretti L, Cortelezzi A, Barcellini W, Zanella A. Bianchi P, et al. Haematologica. 2012 Apr;97(4):516-23. doi: 10.3324/haematol.2011.052845. Epub 2011 Nov 4. Haematologica. 2012. PMID: 22058213 Free PMC article.
BACKGROUND: The laboratory diagnosis of hereditary spherocytosis commonly relies on NaCl-based or glycerol-based red cell osmotic fragility tests; more recently, an assay directly targeting the hereditary spherocytosis molecular defect (eosin-5'-maleim …
BACKGROUND: The laboratory diagnosis of hereditary spherocytosis commonly relies on NaCl-based or glycerol-based red cell osmo …
Red cell membrane disorders in the Japanese population: clinical, biochemical, electron microscopic, and genetic studies.
Yawata Y, Kanzaki A, Inoue T, Ata K, Wada H, Okamoto N, Higo I, Yawata A, Sugihara T, Yamada O. Yawata Y, et al. Int J Hematol. 1994 Jul;60(1):23-38. Int J Hematol. 1994. PMID: 7919236 Review.
Two unrelated kindreds with a chromosomal abnormality; that is, del (8) (p11.2-p21.1), were found that involved the possible contribution of ankyrin to the pathogenesis of hereditary spherocytosis. Anomalies of a transmembrane domain of band 3 were detected in two i …
Two unrelated kindreds with a chromosomal abnormality; that is, del (8) (p11.2-p21.1), were found that involved the possible contribution of …
Detection of red blood cell antibodies in mitogen-stimulated cultures from patients with hereditary spherocytosis.
Zaninoni A, Vercellati C, Imperiali FG, Marcello AP, Fattizzo B, Fermo E, Bianchi P, Grossi C, Cattaneo A, Cortelezzi A, Zanella A, Barcellini W. Zaninoni A, et al. Transfusion. 2015 Dec;55(12):2930-8. doi: 10.1111/trf.13257. Epub 2015 Aug 10. Transfusion. 2015. PMID: 26259504
BACKGROUND: Hereditary spherocytosis (HS) is a congenital hemolytic anemia caused by defects in red blood cell (RBC) membrane proteins leading to premature RBC clearance in the spleen. ...Western blot experiments showed that purified IgG fraction from MS-DAT-positiv …
BACKGROUND: Hereditary spherocytosis (HS) is a congenital hemolytic anemia caused by defects in red blood cell (RBC) membrane …
Structure and stability of hereditary spherocytosis mutants of the cytosolic domain of the erythrocyte anion exchanger 1 protein.
Bustos SP, Reithmeier RA. Bustos SP, et al. Biochemistry. 2006 Jan 24;45(3):1026-34. doi: 10.1021/bi051692c. Biochemistry. 2006. PMID: 16411779
Several proteins bind to cdb3, including protein 4.2, a cytoskeletal protein. Three mutations in cdb3 are associated with hereditary spherocytosis (HS) and decreased levels of protein 4.2 in erythrocytes. ...Thermal denaturation monitored by CD and by …
Several proteins bind to cdb3, including protein 4.2, a cytoskeletal protein. Three mutations in cdb3 are associated with heredita …
A novel splicing mutation of ANK1 is associated with phenotypic heterogeneity of hereditary spherocytosis in a Chinese family.
Xu L, Wei X, Liang G, Zhu D, Zhang Y, Zhang Y, Shang X. Xu L, et al. Biochim Biophys Acta Mol Basis Dis. 2023 Jan 1;1869(1):166595. doi: 10.1016/j.bbadis.2022.166595. Epub 2022 Nov 3. Biochim Biophys Acta Mol Basis Dis. 2023. PMID: 36336297 Free article.
Hereditary spherocytosis (HS) is a common hematological genetic disorder that results in anemia, jaundice and splenomegaly. ...The function of the mutant ANK1 protein was analyzed by both bioinformatics and experimental analysis. The mutant protein (p.N1463Kfs*4 …
Hereditary spherocytosis (HS) is a common hematological genetic disorder that results in anemia, jaundice and splenomegaly. .. …
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