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Genomes and Genes | Soohee LeeSummaryAffiliation: New York Blood Center Country: USA Publications
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Mutations that diminish expression of Kell surface protein and lead to the Kmod RBC phenotypeSoohee Lee
Lindsley F Kimball Research Institute, New York Blood Center, New York, New York 10021, USA
Transfusion 43:1121-5. 2003..Kmod is an inherited rare RBC phenotype characterized by weak but detectable expression of high-incidence Kell antigens...- Proteolytic processing of big endothelin-3 by the kell blood group proteinS Lee
The Lindsley F Kimball Research Institute of the New York Blood Center, New York, NY, USA
Blood 94:1440-50. 1999..These data demonstrate that the Kell blood group protein is a proteolytic enzyme that processes big ET-3, generating ET-3, a potent bioactive peptide with multiple biological roles... - Point mutations in KEL exon 8 determine a high-incidence (RAZ) and a low-incidence (KEL25, VLAN) antigen of the Kell blood group systemS Lee
Lindsley F Kimball Research Institute of the New York Blood Center, 310 East 67th Street, New York, NY 10021, USA
Vox Sang 81:259-63. 2001..The molecular basis of two Kell blood group antigens, RAZ (provisionally KEL27) and VLAN (KEL25), were determined... - Endothelin-3-converting enzyme activity of the KEL1 and KEL6 phenotypes of the Kell blood group systemQuan Sha
Lindsley F Kimball Research Institute of the New York Blood Center, 310 East 67th Street, New York, NY 10021, USA
J Biol Chem 281:7180-2. 2006.... - Insights into extensive deletions around the XK locus associated with McLeod phenotype and characterization of two novel casesJianbin Peng
New York Blood Center, New York, NY 10021, USA
Gene 392:142-50. 2007..The non-synonymous to synonymous nucleotide substitution rate ratio (omega=dN/dS) in these genes was examined. CYBB and RPGR show evidence of positive selection, whereas DMD, XK and OTC are subject to selective constraint... - Changes in red cell ion transport, reduced intratumoral neovascularization, and some mild motor function abnormalities accompany targeted disruption of the Mouse Kell gene (Kel)Xiang Zhu
Department of Pathology, New York Blood Center, New York, New York, USA
Am J Hematol 84:492-8. 2009..In this regard, the Kell knockout mouse provides a good animal model for the study of normal and/or pathophysiological functions of Kell glycoprotein... - Point mutations causing the McLeod phenotypeDavid C W Russo
Lindsley F Kimball Research Institute, The New York Blood Center, New York, New York 10021, USA
Transfusion 42:287-93. 2002..The McLeod phenotype may also be caused by mutations at a different splice site and by a novel mutation encoding an amino acid substitution that prevents transport to the cell surface... - Identification of two new members, XPLAC and XTES, of the XK familyGiulia Calenda
The Lindsley F Kimball Research Institute of the New York Blood Center, 310 East 67th Street, New York, NY 10021, USA
Gene 370:6-16. 2006..1. Phylogenetic analysis shows that there are at least 5 additional vertebrate genes that are evolutionarily distantly related to the XK family. A domain with consensus sequences (ced-8 domain) for the extended family is described... - Expression profiles of mouse Kell, XK, and XPLAC mRNASoohee Lee
The New York Blood Center, 310 East 67th Street, New York, NY 10021, USA
J Histochem Cytochem 55:365-74. 2007..Coexpression of Kell and XK in erythroid tissues and the different expressions in non-erythroid tissues suggest that XK may have a complementary hematological function with Kell and a separate role in other tissues... - Molecular basis of two novel high-prevalence antigens in the Kell blood group system, KALT and KTIMSoohee Lee
New York Blood Center, New York, New York 10021, USA
Transfusion 46:1323-7. 2006..Two probands were studied whose serum samples contained antibodies to different high-prevalence Kell antigens... - Active amino acids of the Kell blood group protein and model of the ectodomain based on the structure of neutral endopeptidase 24.11Soohee Lee
Lindsley F Kimball Research Institute, New York Blood Center, 310 E 67th St, New York, NY 10021, USA
Blood 102:3028-34. 2003..However, Kell uses different amino acids than NEP in substrate binding and appears to have more flexibility in the composition of amino acids allowed in the active site... - Protein 4.1R-dependent multiprotein complex: new insights into the structural organization of the red blood cell membraneMarcela Salomao
Red Cell Physiology Laboratory and Membrane Biochemistry Laboratory, New York Blood Center, New York, NY 10065, USA
Proc Natl Acad Sci U S A 105:8026-31. 2008.... - Two McLeod patients with novel mutations in XKPatrycja M Dubielecka
New York Blood Center, Lindsley F Kimball Research Institute, Cell Signaling Laboratory, 310E 67th street, New York, NY 10065, USA
J Neurol Sci 305:160-4. 2011..Patient 2 had a single base substitution in the 3' splice sequence of intron 2 (IVS2-2a>g). In both cases mutations resulted in the absence of XK protein... - The value of DNA analysis for antigens of the Kell and Kx blood group systemsSoohee Lee
New York Blood Center, New York, New York 10021, USA
Transfusion 47:32S-9S. 2007 - Onset of expression of the components of the Kell blood group complexJeffrey J Pu
Lindsley F. Kimball Research Institute of the New York Blood Center, New York, New York 10021, USA
Transfusion 45:969-74. 2005..CONCLUSION: Both Kell and XK transcripts occur early during erythropoiesis; however, expression may not be coincident because, in mice, Kell transcripts, but not XK, occur in bipotential megakaryocytes-erythroid progenitor cells... - Spontaneously arising red cells with a McLeod-like phenotype in normal donorsDavid J Araten
Division of Hematology, Department of Medicine, NYU School of Medicine, New York, NY, United States
Mutat Res 671:1-5. 2009..004). It may be possible to further investigate the relationship between aging, mutations, and cancer using this approach... - Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndromeRuth H Walker
Departments of Neurology, Veterans Affairs Medical Center, New York, New York 10468, USA
Mov Disord 22:244-8. 2007..This phenotypic variation, despite shared mutations, suggests the action of disease-modifying factors that may explain some of the difficulties with genotype-phenotype correlation in McLeod syndrome... - McLeod phenotype without the McLeod syndromeRuth H Walker
Department of Neurology, James J Peters Veterans Affairs Medical Center, Bronx, NY 10468, USA
Transfusion 47:299-305. 2007..Here the clinical details of two additional cases are presented, of which the genetic details have previously been published...