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A Homologous Genetic Basis of the Murine Cpfl1 Mutant and Human Achromatopsia Linked to Mutations in the Pde6C Gene
(Natl Acad Sciences, 2009)
Retinal cone photoreceptors mediate fine visual acuity, daylight vision, and color vision. Congenital hereditary conditions in which there is a lack of cone function in humans cause achromatopsia, an autosomal recessive ...
The Znf304-Integrin Axis Protects Against Anoikis In Cancer
(Nature Publishing Group, 2015)
Ovarian cancer (OC) is a highly metastatic disease, but no effective strategies to target this process are currently available. Here, an integrative computational analysis of the Cancer Genome Atlas OC data set and ...
Multicenter Evaluation Of Crystal Violet Decolorization Assay (Cvda) For Rapid Detection Of Isoniazid And Rifampicin Resistance In Mycobacterium Tuberculosis
(Nature Publishing Group, 2016)
The aim of this multicenter study was to evaluate the performance of the crystal violet decolorization assay (CVDA) for detection of multidrug resistant tuberculosis (MDR-TB). This study was performed in 11 centers in two ...
Microrna-29 Family Reverts Aberrant Methylation In Lung Cancer By Targeting Dna Methyltransferases 3A And 3B
(Natl Acad Sciences, 2007)
MicroRNAs (miRNAs) are small, noncoding RNAs that regulate expression of many genes. Recent studies suggest roles of miRNAs in carcinogenesis. We and others have shown that expression profiles of miRNAs are different in ...
Ror1 Is Essential for Proper Innervation of Auditory Hair Cells and Hearing in Humans and Mice
(Natl Acad Sciences, 2016)
Hair cells of the inner ear, the mechanosensory receptors, convert sound waves into neural signals that are passed to the brain via the auditory nerve. Little is known about the molecular mechanisms that govern the development ...
Allergy-Specific Phenome-Wide Association Study For Immunogenes In Turkish Children
(Nature Publishing Group, 2016)
To dissect the role of immunogenetics in allergy and asthma, we performed a phenome-wide association study in 974 Turkish children selected from a cross-sectional study conducted using ISAAC (International Study of Asthma ...
Genetic Diagnosis By Whole Exome Capture And Massively Parallel Dna Sequencing
(Natl Acad Sciences, 2009)
Protein coding genes constitute only approximately 1% of the human genome but harbor 85% of the mutations with large effects on disease-related traits. Therefore, efficient strategies for selectively sequencing complete ...
Deciphering The Glycosylome Of Dystroglycanopathies Using Haploid Screens For Lassa Virus Entry
(Amer Assoc Advancement Science, 2013)
Glycosylated alpha-dystroglycan (alpha-DG) serves as cellular entry receptor for multiple pathogens, and defects in its glycosylation cause hereditary Walker-Warburg syndrome (WWS). At least eight proteins are critical to ...
Biallelic Hypomorphic Mutations In A Linear Deubiquitinase Define Otulipenia, An Early-Onset Autoinflammatory Disease
(Natl Acad Sciences, 2016)
Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by loss-of-function mutations in OTULIN (FAM105B), encoding a ...
Evolutionarily Dynamic Alternative Splicing Of Gpr56 Regulates Regional Cerebral Cortical Patterning
(Amer Assoc Advancement Science, 2014)
The human neocortex has numerous specialized functional areas whose formation is poorly understood. Here, we describe a 15-base pair deletion mutation in a regulatory element of GPR56 that selectively disrupts human cortex ...
