SMIM1 underlies the Vel blood group and influences red blood cell traits
about
GWAS of 126,559 individuals identifies genetic variants associated with educational attainmentComprehensive red blood cell and platelet antigen prediction from whole genome sequencing: proof of principlePlatelet function is modified by common sequence variation in megakaryocyte super enhancersGenomics meets proteomics: identifying the culprits in disease.Defining the role of common variation in the genomic and biological architecture of adult human height.Differential transcriptome profile of peripheral white cells to identify biomarkers involved in oxaliplatin induced neuropathy.New genetic loci link adipose and insulin biology to body fat distribution.Genetic and epigenetic regulation of gene expression in fetal and adult human liversGenome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.A novel common variant in DCST2 is associated with length in early life and height in adulthoodIntegration of red cell genotyping into the blood supply chain: a population-based study.Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell TraitsSMIM1 is a type II transmembrane phosphoprotein and displays the Vel blood group antigen at its carboxyl-terminusThe impact of low-frequency and rare variants on lipid levels.Advances in understanding erythropoiesis: evolving perspectivesApproaches to determination of a full profile of blood group genotypes: single nucleotide variant mapping and massively parallel sequencing.International rare donor panels: a review.Characterization of a new human monoclonal antibody directed against the Vel antigen.Evaluation of targeted exome sequencing for 28 protein-based blood group systems, including the homologous gene systems, for blood group genotyping.Genetic factors associated with iron storage in Australian blood donors.Identification of context-dependent expression quantitative trait loci in whole blood.Screening for the SMIM1*64_80 del Allele in blood donors in a population from Southern Brazil.The c.64_80del SMIM1 allele is segregating in the Hutterite population.High-throughput strategy for molecular identification of Vel- blood donors employing nucleic acids extracted from plasma pools used for viral nucleic acid test screening.Prevalence and determinants of declining versus stable hemoglobin levels in whole blood donors.Molecular Screening for Vel- Blood Donors in Southwestern GermanySMIM1 variants rs1175550 and rs143702418 independently modulate Vel blood group antigen expression.Genome-wide association analyses identify variants in developmental genes associated with hypospadias.Thorough analysis of unorthodox ABO deletions called by the 1000 Genomes project.International society of blood transfusion working party on red cell immunogenetics and terminology: report of the Seoul and London meetings.Targeted exome sequencing defines novel and rare variants in complex blood group serology cases for a red blood cell reference laboratory setting.Molecular screening of Vel-blood donors using DNA pools in Nanjing, China.Gene expression analysis identifies global gene dosage sensitivity in cancer.Identification of a novel frequent RHCE*ce308T variant allele in Chinese D- individuals, resulting in a C+c- phenotype.SARA: a "new" low-frequency MNS antigen (MNS47) provides further evidence of the extreme diversity of the MNS blood group system.A large lung gene expression study identifying fibulin-5 as a novel player in tissue repair in COPD.
P2860
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P2860
SMIM1 underlies the Vel blood group and influences red blood cell traits
description
2013 nî lūn-bûn
@nan
2013 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
SMIM1 underlies the Vel blood group and influences red blood cell traits
@ast
SMIM1 underlies the Vel blood group and influences red blood cell traits
@en
SMIM1 underlies the Vel blood group and influences red blood cell traits
@nl
type
label
SMIM1 underlies the Vel blood group and influences red blood cell traits
@ast
SMIM1 underlies the Vel blood group and influences red blood cell traits
@en
SMIM1 underlies the Vel blood group and influences red blood cell traits
@nl
prefLabel
SMIM1 underlies the Vel blood group and influences red blood cell traits
@ast
SMIM1 underlies the Vel blood group and influences red blood cell traits
@en
SMIM1 underlies the Vel blood group and influences red blood cell traits
@nl
P2093
P2860
P50
P356
P1433
P1476
SMIM1 underlies the Vel blood group and influences red blood cell traits
@en
P2093
Cornelis A Albers
Derek Stemple
Dorine Swinkels
Emile van den Akker
Ewa Bielczyk-Maczyńska
Graham Kiddle
Heather Lloyd-Jones
Hendrik G Stunnenberg
Herman H W Silljé
P2860
P2888
P304
P356
10.1038/NG.2603
P407
P50
P577
2013-04-07T00:00:00Z