Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy
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Copy-number variants (CNVs) form an abundant class of genetic variation with a presumed widespread impact on individual traits. While recent advances, such as the population-scale sequencing of human genomes, facilitated the fine-scale mapping of CNVs, the ...
Objective: To identify disease causing mutation in three generations of a Swiss family with pattern dystrophy and high intrafamilial variability of phenotype. To assess the effect of intravitreal ranibizumab injections in the treatment of subfoveal choroid ...
Complete achromatopsia is a rare autosomal recessive disease associated with CNGA3, CNGB3, GNAT2 and PDE6C mutations. This retinal disorder is characterized by complete loss of color discrimination due to the absence or alteration of the cones function. Th ...
PURPOSE. We reported an unusual appearance of fundus autofluorescence (FAF) associated with NR2E3-p.G56R-linked autosomal dominant retinitis pigmentosa (ADRP). METHODS. Patients were enrolled among three generations in a Swiss family. Molecular diagnosis i ...
To find out whether the AGO-miRNA complex is more sensitive to the accessibility of a particular region inside the seed match, we analyze in detail the accessibility of a wide set of miRNA binding sites validated by PAR-CLIP and HITS-CLIP experiments. Our ...
Cold Spring Harbor Lab Press, Publications Dept2012
The septation initiation network (SIN) in Schizosaccharomyces pombe regulates cytokinesis. Cdc7p encodes the first kinase in the core SIN pathway. In this study, I performed a genetic screen to identify novel regulators of the SIN pathway by isolating spon ...
Hyaline Fibromatosis Syndrome (HIS) is a human genetic disease caused by mutations in the anthrax toxin receptor 2 (or cmg2) gene, which encodes a membrane protein thought to be involved in the homeostasis of the extracellular matrix. Little is known about ...
Identification of genes underlying human diseases is an important step in understanding and treating genetic disorders. Based on the assumption that related diseases are caused by related genes, several methods for candidate gene prioritization have been p ...
Landscape genomics is an emerging research field that bridges genetics and genomics to geo-environmental resources analysis. It aims to study genome/environment interaction to discover the genetic basis of adaptation by processing of many simultaneous DNA- ...
Joint FAO/IAEA Division of Nuclear Techniques in Food and Agriculture2010
Hyaline Fibromatosis Syndrome (HFS) is a rare inherited disease that is characterized by an accumulation of an unidentified hyaline material, largely affecting connective tissues. Patients afflicted with HFS present a wide range of clinical symptoms such a ...