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Purpose: Retinitis pigmentosa (RP; MIM 268000) is a hereditary disease characterized by poor night vision and progressive loss of photoreceptors, eventually leading to blindness. This degenerative process primarily affects peripheral vision due to the loss ...
The p38 mitogen-activated protein (MAP) kinase signaling cassette has been implicated in stress and immunity in evolutionarily diverse species. In response to a wide variety of physical, chemical and biological stresses p38 kinases phosphorylate various su ...
Understanding patterns of spontaneous mutations is of fundamental interest in studies of human genome evolution and genetic disease. Here, we used extremely rare variants in humans to model the molecular spectrum of single-nucleotide mutations. Compared to ...
Cold Spring Harbor Lab Press, Publications Dept2013
Variation in the 3' untranslated region (3'UTR) of the HLA-C locus determines binding of the microRNA Hsa-miR-148a, resulting in lower cell surface expression of alleles that bind miR-148a relative to those alleles that escape its binding. The HLA-C 3'UTR ...
Building on the seminal work of Thomas J. Allen, we contribute to the emerging microlevel theory of knowledge recombination by examining how individual-level characteristics of inventors affect the breadth of their technological recombinations. Our data se ...
Understanding genetic basis of adaptation is of key importance, especially to insure food supply for present and future populations. Cultivated plants and livestock animals are subjected to high selection pressure due to climate change, increasing food nee ...
Background: Information on nucleotide diversity along completely sequenced human genomes has increased tremendously over the last few years. This makes it possible to reassess the diversity status of distinct receptor proteins in different human individual ...
We developed used a WebGIS platform prototype (GenMon) based on open source software (PostgreSQL, PostGIS, OpenLayers, Geoserver), to assess pedigree information, geographical concentration, socio-economic and environmental information. GenMon includes Pop ...
A variant upstream of human leukocyte antigen C (HLA-C) shows the most significant genome-wide effect on HIV control in European Americans and is also associated with the level of HLA-C expression. We characterized the differential cell surface expression ...
American Association for the Advancement of Science2013
DNA sequence variation has been associated with quantitative changes in molecular phenotypes such as gene expression, but its impact on chromatin states is poorly characterized. To understand the interplay between chromatin and genetic control of gene regu ...
American Association for the Advancement of Science2013
