Kathy L Miller

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Anaemia is a chief determinant of global ill health, contributing to cognitive impairment, growth retardation and impaired physical capacity. To understand further the genetic factors influencing red blood cells, we carried out a genome-wide association study of haemoglobin concentration and related parameters in up to 135,367 individuals. Here we identify(More)
Glaucoma is the most common cause of irreversible blindness worldwide. One subset of glaucoma, normal tension glaucoma (NTG) occurs in the absence of high intraocular pressure. Mutations in two genes, optineurin (OPTN) and TANK binding kinase 1 (TBK1), cause familial NTG and have known roles in the catabolic cellular process autophagy. TKB1 encodes a kinase(More)
The Fc receptors (FcR), which belong to the immunoglobulin (Ig) superfamily, bind to specific Ig isotypes with varying affinities triggering complex immune defense responses. Several of the Fctk that lack signaling motifs in their cytoplasmic domains rely on associated subunits to transmit signals. Two classes of Fctk that bind the Fc portion oflgG, FcyRI,(More)
Molecular genetics of optic nerve disease using patients with cavitary optic disc anomaly." PhD ii To my mother Queen Marion, thank you for always being there; may you continue to rest in peace and to my son Ralph J. Hazlewood III iii Without struggle, there is no progress. Frederick Douglas " West India Emancipation " iv ACKNOWLEDGEMENTS The journey to(More)
PURPOSE The defining feature of glaucoma is excavation of the optic nerve head; however, the mechanism of this loss of tissue is not well understood. We recently discovered a copy number variation upstream of matrix metalloproteinase 19 (MMP19) in a large, autosomal dominant pedigree with a congenital malformation of the optic disc called cavitary optic(More)
We have developed a publicly available tool, AxonJ, which quantifies the axons in optic nerve sections of rodents stained with paraphenylenediamine (PPD). In this study, we compare AxonJ's performance to human experts on 100x and 40x images of optic nerve sections obtained from multiple strains of mice, including mice with defects relevant to glaucoma.(More)
In the Supplementary Information file originally published with this Article, Supplemental Figure 1 was omitted. In addition, " Supplemental Software " was incorrectly given as " Software Legend " These errors have now been corrected in the Supplementary Information that now accompanies the Article. This work is licensed under a Creative Commons Attribution(More)
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