Matriptase-2, a type II transmembrane serine protease, plays a key role in human iron homeostasis. Inhibition of matriptase-2 is considered as an attractive strategy for the treatment of iron-overload diseases, such as hemochromatosis and β-thalassemia. In the present study, synthetic routes to nine dipeptidomimetic inactivators were developed. Fiv...
The dorsal lateral geniculate nucleus (dLGN) is a sensory thalamic relay area that receives feedforward inputs from retinal ganglion cells (RGCs) in the retina, and feed back inputs from layer 6 neurons in the visual cortex. In this study we examined genetically manipulated mice that develop without a cortex or without cortical layer 6 axonal proje...
Hinrichs, Angie SRaney, Brian JSpeir, Matthew LRhead, BrookeCasper, JonathanKarolchik, DonnaKuhn, Robert MRosenbloom, Kate RZweig, Ann SHaussler, David
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Frequency-lowering signal processors have measureable effects on the high-frequency fricative content of speech, particularly female /s/. It is possible to measure these effects either with a simple strategy that presents an isolated simulated fricative and measures the aided frequency response or with a more complex system that extracts fricatives...
Implications for clinical verification systems may be that greater standardization and the use of speech-in-noise test signals may improve the quality and consistency of noise reduction verification cross clinics. A suggested clinical protocol for verification of noise management in children's hearing aids is suggested.
Auton, AdamBrooks, Lisa DDurbin, Richard MGarrison, Erik PKang, Hyun MinKorbel, Jan OMarchini, Jonathan LMcCarthy, ShaneMcVean, Gil AAbecasis, Gonçalo R
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The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-covera...
Putnam, Nicholas H.O'Connell, BrendanStites, Jonathan C.Rice, Brandon J.Fields, AndrewHartley, Paul D.Sugnet, Charles W.Haussler, DavidRokhsar, Daniel S.Green, Richard E.
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Long-range and highly accurate de novo assembly from short-read data is one of the most pressing challenges in genomics. Recently, it has been shown that read pairs generated by proximity ligation of DNA in chromatin of living tissue can address this problem. These data dramatically increase the scaffold contiguity of assemblies and provide haploty...
The Genome 10K Project was established in 2009 by a consortium of biologists and genome scientists determined to facilitate the sequencing and analysis of the complete genomes of 10,000 vertebrate species. Since then the number of selected and initiated species has risen from ∼26 to 277 sequenced or ongoing with funding, an approximately tenfold in...
