Zobrazeno 1 - 10
of 95
pro vyhledávání: '"Olga O. Blumenfeld"'
Autor:
Romina Kardashi, Manuela Schulz, Fuping Liu, Louise Y. C. Takeshita, Abdulgabar Salama, Wolfgang Helmberg, Olga Arbach, Franz F. Wagner, Hein Hustinx, Ziyi He, Santosh Kumar Patnaik, Gottfried Fischer, Josef Evers, Olga O. Blumenfeld, Volker Braun, Andrew R. Jones, Willy A. Flegel, Beat M. Frey, Maria-Inti Metzendorf, Derek Middleton, Cynthia Flickinger, Faviel F. Gonzalez-Galarza
Publikováno v:
Transfusion Medicine and Hemotherapy. 41:333-337
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd6e1571a4825c9dfb5e80674fed2ea9
https://doi.org/10.1159/000368868
https://doi.org/10.1159/000368868
Autor:
Jim Kent, Andrew D. Kern, Garry R. Cutting, Olga O. Blumenfeld, Charles Scriver, David H.K. Chui, Ross C. Hardison, Tim Hefferon, Robert M. Kuhn, Laura Elnitski, Jim R. Hughes, Fan Hsu, Heather Trumbower, Mauno Vihinen, Belinda Giardine, Manyphong Phommarinh, Daryl J. Thomas, Bruce Gottlieb, Yunhua Sang, Webb Miller, Doug Higgs, Santosh K. Patnaik, George P. Patrinos, Julian Zielenski, Cathy Riemer, Jouni Väliaho
Publikováno v:
Human Mutation, 28(6), 554-562. Wiley-Liss Inc.
PhenCode (Phenotypes for ENCODE; http://www.bx.psu.edu/phencode) is a collaborative, exploratory project to help understand phenotypes of human mutations in the context of sequence and functional data from genome projects. Currently, it connects huma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dceee7f0e786576256bb9049caea14f8
https://ora.ox.ac.uk/objects/uuid:76ff6e7e-2ea8-4155-a1b9-2045521d9e73
https://ora.ox.ac.uk/objects/uuid:76ff6e7e-2ea8-4155-a1b9-2045521d9e73
Autor:
Santosh K. Patnaik, Olga O. Blumenfeld
Publikováno v:
Human Mutation. 32:263-271
Comparative analysis of allelic variation of a gene sheds light on the pattern and process of its diversification at the population level. Gene families for which a large number of allelic forms have been verified by sequencing provide a useful resou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19e61b2e667357b9889496ce6b4baa95
https://doi.org/10.1002/humu.21430
https://doi.org/10.1002/humu.21430
Autor:
I. Verma, Anthony J. Brookes, Sandro Rossetti, J.T. den Dunnen, Jacques S. Beckmann, Marc S. Greenblatt, Marshall L. Summar, Pascale Hilbert, Angus Brown, Daniel W. Nebert, Charles R. Scriver, Sue Povey, Olga O. Blumenfeld, Bruce Gottlieb, Arleen D. Auerbach, Ping Liang, Diane W. Cox, Sharon Marsh, Dean R. Tolan, Richard G.H. Cotton, Heikki Lehväslaiho, Paola Carrera, Mauno Vihinen
Publikováno v:
Human Mutation, vol. 29, no. 1, pp. 2-5
Expert curation and complete collection of mutations in genes that affect human health is essential for proper genetic healthcare and research. Expert curation is given by the curators of gene-specific mutation databases or locus-specific databases (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee07b02e2ddbf6dd3281a9dae3462941
https://doi.org/10.1002/humu.20650
https://doi.org/10.1002/humu.20650
Publikováno v:
Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie. 41(5)
The Blood group antigen Gene MUTation (BGMUT) database documents variations in genes of human blood group systems. In March 2014, the database, accessible at www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut, listed 1,545 alleles of 44 genes of 34 blo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca816d352d95e222ecc1b8eedb4cf4d2
https://pubmed.ncbi.nlm.nih.gov/25538536
https://pubmed.ncbi.nlm.nih.gov/25538536
Publikováno v:
Analytical Biochemistry. 289:1-9
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa64e5e5a6d0405a8d2bbfa688efeb7c
https://doi.org/10.1006/abio.2000.4881
https://doi.org/10.1006/abio.2000.4881
Publikováno v:
Blood. 90:391-397
The Henshaw antigen (synonym: He or MNS6) is carried by an altered form of glycophorin B (GPB), but the molecular basis for its variable expression or quantitative polymorphism remains largely undefined. We report here the identification and analysis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c28aa6a3cd83c2abe21076cd575a276e
https://doi.org/10.1182/blood.v90.1.391.391_391_397
https://doi.org/10.1182/blood.v90.1.391.391_391_397
Publikováno v:
Biochemical Genetics. 35:59-76
Homologues of MN blood group antigens, encoded by members of the glycophorin A (GPA) gene family, are expressed in man, anthropoid apes, and some species of Old World monkeys. Previous studies had shown that a three-gene framework, most closely relat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::994844832fc86677b022b5ebe4a638bd
https://doi.org/10.1023/a:1022212630370
https://doi.org/10.1023/a:1022212630370
Publikováno v:
Blood. 87:3942-3947
The Wright (Wra/Wrb) blood group polymorphism is defined by an allelic change (Lys658Glu) in the band 3 protein; nevertheless, the Wrb antigen apparently requires glycophorin A (GPA) for surface presentation. To gain insight into the structural basis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5ea0af86ca38e888dc695f1e63aeb8dc
https://doi.org/10.1182/blood.v87.9.3942.bloodjournal8793942
https://doi.org/10.1182/blood.v87.9.3942.bloodjournal8793942
Publikováno v:
Journal of Molecular Evolution. 41:478-486
In humans, the allelic diversity of MNSs glycophorins (GP) occurs mainly through the recombinational modulation of silent exons (pseudoexons) in duplicated genes. To address the origin of such a mechanism, structures of GPA, GPB, and GPE were determi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e40bd8daa9ba5e366cc2cb2bdab0d447
https://doi.org/10.1007/bf00160319
https://doi.org/10.1007/bf00160319