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Items: 1 to 20 of 149

1.
Spectrin self-association site: characterization and study of beta-spectrin mutations associated with hereditary elliptocytosis.
G Nicolas, S Pedroni, C Fournier, H Gautero, C Craescu, D Dhermy, M C Lecomte
Biochem J. 1998 May 15; 332(Pt 1): 81–89. doi: 10.1042/bj3320081
PMCID:
PMC1219454
SummaryPDF–735K
2.
Defective spectrin dimer-dimer association with hereditary elliptocytosis.
S C Liu, J Palek, J T Prchal
Proc Natl Acad Sci U S A. 1982 Mar; 79(6): 2072–2076. doi: 10.1073/pnas.79.6.2072
PMCID:
PMC346125
SummaryPage BrowsePDF–981K
3.
A novel mutation in SPTA1 identified by whole exome sequencing in a Chinese family for hereditary elliptocytosis presenting with hyperbilirubinemia: A case report
Yaming Xi, Lina Wang, Pengpeng Zhang, Mingfeng Jia, Zijian Li
Medicine (Baltimore) 2019 May; 98(22): e15800. Published online 2019 May 31. doi: 10.1097/MD.0000000000015800
PMCID:
PMC6708995
AbstractArticlePDF–419K
4.
Tryptic digestion of spectrin in variants of hereditary elliptocytosis.
T Coetzer, S S Zail
J Clin Invest. 1981 May; 67(5): 1241–1248. doi: 10.1172/JCI110151
PMCID:
PMC370689
SummaryPage BrowsePDF–1.8M
5.
ACCURATE LIGHT MICROSCOPIC DIAGNOSIS OF SOUTHEAST ASIAN OVALOCYTOSIS
DR CHRISTIAN P. NIXON, ARI W. SATYAGRAHA, GRAYSON L. BAIRD, ALIDA HARAHAP, LYDIA V. PANGGALO, LENNY L. EKAWATI, INGE SUTANTO, DIN SYAFRUDDIN, J. KEVIN BAIRD
Int J Lab Hematol. Author manuscript; available in PMC 2019 Dec 1.
Published in final edited form as: Int J Lab Hematol. 2018 Dec; 40(6): 655–662. Published online 2018 Jul 13. doi: 10.1111/ijlh.12900
PMCID:
PMC6246802
AbstractArticlePDF–611K
6.
Hereditary spherocytosis and hereditary elliptocytosis: aberrant protein sorting during erythroblast enucleation
Marcela Salomao, Ke Chen, Jonathan Villalobos, Narla Mohandas, Xiuli An, Joel Anne Chasis
Blood. 2010 Jul 15; 116(2): 267–269. Prepublished online 2010 Mar 25. doi: 10.1182/blood-2010-02-264127
PMCID:
PMC2910610
AbstractArticle
7.
Tropomodulin 1-null mice have a mild spherocytic elliptocytosis with appearance of Tropomodulin 3 in red blood cells and disruption of the membrane skeleton
Jeannette D. Moyer, Roberta B. Nowak, Nancy E. Kim, Sandra K. Larkin, Luanne L. Peters, John Hartwig, Frans A. Kuypers, Velia M. Fowler
Blood. 2010 Oct 7; 116(14): 2590–2599. Prepublished online 2010 Jun 28. doi: 10.1182/blood-2010-02-268458
PMCID:
PMC2953891
AbstractArticle
8.
Deficiency of skeletal membrane protein band 4.1 in homozygous hereditary elliptocytosis. Implications for erythrocyte membrane stability.
G Tchernia, N Mohandas, S B Shohet
J Clin Invest. 1981 Aug; 68(2): 454–460. doi: 10.1172/JCI110275
PMCID:
PMC370818
SummaryPage BrowsePDF–1.6M
9.
Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis
Shiyue Ma, Jinqiu Qin, Aiqiu Wei, Xiaohong Li, Yuanyuan Qin, Lin Liao, Faquan Lin
Mol Med Rep. 2018 Apr; 17(4): 5903–5911. Published online 2018 Feb 26. doi: 10.3892/mmr.2018.8632
PMCID:
PMC5866036
AbstractArticlePDF–1.3M
10.
Acquired Elliptocytosis as a Manifestation of Myelodysplastic Syndrome Associated with Deletion of Chromosome 20q
Sukesh Manthri, Naresh K. Vasireddy, Sindhura Bandaru, Swati Pathak
Case Rep Hematol. 2018; 2018: 6819172. Published online 2018 Feb 1. doi: 10.1155/2018/6819172
PMCID:
PMC5816871
AbstractArticlePDF–2.0M
11.
Acquired Elliptocytosis as a Manifestation of Myelodysplastic Syndrome with Ring Sideroblasts and Multilineage Dysplasia
Jacob D. Kjelland, Denis M. Dwyre, Brian A. Jonas
Case Rep Hematol. 2017; 2017: 3625946. Published online 2017 Oct 11. doi: 10.1155/2017/3625946
PMCID:
PMC5660754
AbstractArticlePDF–1.3M
12.
Modulation of erythrocyte membrane mechanical stability by 2,3-diphosphoglycerate in the neonatal poikilocytosis/elliptocytosis syndrome.
W C Mentzer, Jr, T A Iarocci, N Mohandas, P A Lane, B Smith, J Lazerson, T Hays
J Clin Invest. 1987 Mar; 79(3): 943–949. doi: 10.1172/JCI112905
PMCID:
PMC424243
SummaryPage BrowsePDF–1.6M
13.
AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis
Gaia Andreoletti, Eleanor G Seaby, Jennifer M Dewing, Ita O'Kelly, Katherine Lachlan, Rodney D Gilbert, Sarah Ennis
J Med Genet. 2017 Apr; 54(4): 269–277. Published online 2016 Nov 3. doi: 10.1136/jmedgenet-2016-104100
PMCID:
PMC5502304
AbstractArticlePDF–941K
14.
Unique alpha-spectrin mutant in a kindred with common hereditary elliptocytosis.
P A Lane, R L Shew, T A Iarocci, N Mohandas, T Hays, W C Mentzer
J Clin Invest. 1987 Mar; 79(3): 989–996. doi: 10.1172/JCI112911
PMCID:
PMC424257
SummaryPage BrowsePDF–2.1M
15.
Effect of the Southeast Asian Ovalocytosis Deletion on the Conformational Dynamics of Signal-Anchor Transmembrane Segment 1 of Red Cell Anion Exchanger 1 (AE1, Band 3, or SLC4A1)
Philip W. Fowler, Mark S. P. Sansom, Reinhart A. F. Reithmeier
Biochemistry. 2017 Feb 7; 56(5): 712–722. Published online 2017 Jan 9. doi: 10.1021/acs.biochem.6b00966
PMCID:
PMC5299548
AbstractArticlePDF–2.9M
16.
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis
Omar Niss, Satheesh Chonat, Neha Dagaonkar, Marya O. Almansoori, Karol Kerr, Zora R. Rogers, Patrick T. McGann, Maa-Ohui Quarmyne, Mary Risinger, Kejian Zhang, Theodosia A. Kalfa
Blood Cells Mol Dis. Author manuscript; available in PMC 2017 Oct 1.
Published in final edited form as: Blood Cells Mol Dis. 2016 Oct; 61: 4–9. Published online 2016 Jul 17. doi: 10.1016/j.bcmd.2016.07.003
PMCID:
PMC5098801
AbstractArticlePDF–573K
17.
Spectrin beta-chain variant associated with hereditary elliptocytosis.
D Dhermy, M C Lecomte, M Garbarz, O Bournier, C Galand, H Gautero, C Feo, N Alloisio, J Delaunay, P Boivin
J Clin Invest. 1982 Oct; 70(4): 707–715. doi: 10.1172/JCI110666
PMCID:
PMC370278
SummaryPage BrowsePDF–1.5M
18.
Defective binding of spectrin to ankyrin in a kindred with recessively inherited hereditary elliptocytosis.
S S Zail, T L Coetzer
J Clin Invest. 1984 Sep; 74(3): 753–762. doi: 10.1172/JCI111491
PMCID:
PMC425229
SummaryPage BrowsePDF–1.9M
19.
Resistance of Melanesian elliptocytes (ovalocytes) to invasion by Plasmodium knowlesi and Plasmodium falciparum malaria parasites in vitro.
T Hadley, A Saul, G Lamont, D E Hudson, L H Miller, C Kidson
J Clin Invest. 1983 Mar; 71(3): 780–782. doi: 10.1172/JCI110827
PMCID:
PMC436930
SummaryPage BrowsePDF–485K
20.
A molecular defect of spectrin in a subset of patients with hereditary elliptocytosis. Alterations in the alpha-subunit domain involved in spectrin self-association.
J Lawler, S C Liu, J Palek, J Prchal
J Clin Invest. 1984 Jun; 73(6): 1688–1695. doi: 10.1172/JCI111376
PMCID:
PMC437080
SummaryPage BrowsePDF–1.9M

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