Search Results - "ROBSON, Kathryn"
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Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities
Published in Cell reports (Cambridge) (27-12-2012)“…The formation of the mammalian cortex requires the generation, migration, and differentiation of neurons. The vital role that the microtubule cytoskeleton…”
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Distinct gene expression program dynamics during erythropoiesis from human induced pluripotent stem cells compared with adult and cord blood progenitors
Published in BMC genomics (21-10-2016)“…Human-induced pluripotent stem cells (hiPSCs) are a potentially invaluable resource for regenerative medicine, including the in vitro manufacture of blood…”
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3
Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin
Published in Blood (01-08-2005)“…Ferroportin (FP141414148) mediates iron export from cells; FPN mutations are associated with the iron overloading disorder hemochromatosis. Previously, we…”
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Global gene expression analysis of human erythroid progenitors
Published in Blood (31-03-2011)“…Understanding the pattern of gene expression during erythropoiesis is crucial for a synthesis of erythroid developmental biology. Here, we isolated 4 distinct…”
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Population Turnover in Remote Oceania Shortly after Initial Settlement
Published in Current biology (02-04-2018)“…Ancient DNA from Vanuatu and Tonga dating to about 2,900–2,600 years ago (before present, BP) has revealed that the “First Remote Oceanians” associated with…”
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THE LIMITS OF EMPATHY AND COMPASSION IN DELPHINE DE VIGAN'S NO ET MOI AND LES HEURES SOUTERRAINES
Published in The Modern language review (01-07-2015)“…This article explores the limits and possibilities of reading empathy and compassion as portrayed in two French novels, No et moi (2007) and Les Heures…”
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Iron overload in the Asian community
Published in Blood (02-07-2009)“…Hereditary hemochromatosis is an iron overload disorder that can lead to the impairment of multiple organs and is caused by mutations in one or more different…”
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In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations
Published in Blood (15-05-2005)“…Type IV hemochromatosis is associated with dominant mutations in the SLC40A1 gene encoding ferroportin (FPN). Known as the “ferroportin disease,” this…”
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Coeliac patients are undiagnosed at routine upper endoscopy
Published in PloS one (04-03-2014)“…Two out of three patients with Coeliac Disease (CD) in Australia are undiagnosed. This prospective clinical audit aimed to determine how many CD patients would…”
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Language continuity despite population replacement in Remote Oceania
Published in Nature ecology & evolution (01-04-2018)“…Recent genomic analyses show that the earliest peoples reaching Remote Oceania—associated with Austronesian-speaking Lapita culture—were almost completely East…”
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Application of Intelligent Transportation Systems (ITS) for Regional Development: Case Studies in Integrated Functional Approach
Published in MATEC Web of Conferences (2020)“…This paper evaluates the application of Intelligent Transportation Systems (ITS) specifically as a part of regional development. Although ITS has been…”
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Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis
Published in Human molecular genetics (01-09-2003)“…Haemochromatosis (HH) is a clinically and genetically heterogeneous disease caused by inappropriate iron absorption. Most HH patients are homozygous for the…”
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Association between a common immunoglobulin heavy chain allele and rheumatic heart disease risk in Oceania
Published in Nature communications (11-05-2017)“…The indigenous populations of the South Pacific experience a high burden of rheumatic heart disease (RHD). Here we report a genome-wide association study…”
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Speaking as a Hysteric: Rape in Nancy Huston's Histoire D'Omaya
Published in The Modern language review (01-01-2011)“…This article explores how rape can be narrated in the first person through analysis of contemporary feminist theories of rape and Nancy Huston's Histoire…”
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TRAP is necessary for gliding motility and infectivity of plasmodium sporozoites
Published in Cell (08-08-1997)“…Many protozoans of the phylum Apicomplexa are invasive parasites that exhibit a substrate-dependent gliding motility. Plasmodium (malaria) sporozoites, the…”
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Transferrin and HFE genes interact in Alzheimer's disease risk: the Epistasis Project
Published in Neurobiology of aging (2012)“…Abstract Iron overload may contribute to the risk of Alzheimer's disease (AD). In the Epistasis Project, with 1757 cases of AD and 6295 controls, we studied 4…”
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Enhanced immunogenicity for CD8+ T cell induction and complete protective efficacy of malaria DNA vaccination by boosting with modified vaccinia virus Ankara
Published in Nature medicine (01-04-1998)“…Immunization with irradiated sporozoites can protect against malaria infection and intensive efforts are aimed at reproducing this effect with subunit…”
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Malarial anemia and STAT6
Published in Haematologica (Roma) (01-02-2009)“…Understanding the mechanisms behind malarial anemia should lead to new approaches to the management and treatment of children. In this perspective article Drs…”
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A valine deletion of ferroportin 1: a common mutation in hemochromatosis type 4?
Published in Blood (15-07-2002)Get full text
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A Plasmodium falciparum Candidate Vaccine Based on a Six-Antigen Polyprotein Encoded by Recombinant Poxviruses
Published in Proceedings of the National Academy of Sciences - PNAS (06-01-2004)“…To generate broadly protective T cell responses more similar to those acquired after vaccination with radiation-attenuated Plasmodium falciparum sporozoites,…”
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