University of Utah

About: University of Utah is a education organization based out in Salt Lake City, Utah, United States. It is known for research contribution in the topics: Population & Poison control. The organization has 52894 authors who have published 124076 publications receiving 5265834 citations. The organization is also known as: The U & The University of Utah.

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

Abstract: Stargardt disease (STGD, also known as fundus flavimaculatus; FFM) is an autosomal recessive retinal disorder characterized by a juvenile-onset macular dystrophy, alterations of the peripheral retina, and subretinal deposition of lipofuscin-like material A gene encoding an ATP-binding cassette (ABC) transporter was mapped to the 2-cM (centiMorgan) interval at 1p13-p21 previously shown by linkage analysis to harbour the STGD gene This gene, ABCR, is expressed exclusively and at high levels in the retina, in rod but not cone photoreceptors, as detected by in situ hybridization Mutational analysis of ABCR in STGD families revealed a total of 19 different mutations including homozygous mutations in two families with consanguineous parentage These data indicate that ABCR is the causal gene of STGD/FFM

Analysis of shared heritability in common disorders of the brain

Abstract: Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified the genetic sharing of 25 brain disorders from genome-wide association studies of 265,218 patients and 784,643 control participants and assessed their relationship to 17 phenotypes from 1,191,588 individuals. Psychiatric disorders share common variant risk, whereas neurological disorders appear more distinct from one another and from the psychiatric disorders. We also identified significant sharing between disorders and a number of brain phenotypes, including cognitive measures. Further, we conducted simulations to explore how statistical power, diagnostic misclassification, and phenotypic heterogeneity affect genetic correlations. These results highlight the importance of common genetic variation as a risk factor for brain disorders and the value of heritability-based methods in understanding their etiology.

hERG potassium channels and cardiac arrhythmia

Abstract: hERG potassium channels are essential for normal electrical activity in the heart. Inherited mutations in the HERG gene cause long QT syndrome, a disorder that predisposes individuals to life-threatening arrhythmias. Arrhythmia can also be induced by a blockage of hERG channels by a surprisingly diverse group of drugs. This side effect is a common reason for drug failure in preclinical safety trials. Insights gained from the crystal structures of other potassium channels have helped our understanding of the block of hERG channels and the mechanisms of gating.

Examining Transformational Resistance Through a Critical Race and Latcrit Theory Framework: Chicana and Chicano Students in an Urban Context

Abstract: Using critical race theory and Latina/Latino critical race theory as a framework, this article utilizes the methods of qualitative inquiry and counterstorytelling to examine the construct of student resistance. The authors use two events in Chicana/Chicano student history—the 1968 East Los Angeles school walkouts and the 1993 UCLA student strike for Chicana and Chicano studies. Using these two methods and events, the authors extend the concept of resistance to focus on its transformative potential and its internal and external dimensions. The authors describe and analyze a series of individual and focus group interviews with women who participated in the 1968 East Los Angeles high school walkouts. The article then introduces a counterstory that briefly listens in on a dialogue between two data-driven composite characters, the Professor and an undergraduate student named Gloria. These characters’ experiences further illuminate the concepts of internal and external transformational resistance.