Transformative therapies for rare CFTR missense alleles
نویسندگان
چکیده
منابع مشابه
Targeted Cftr Modulator Therapies for Cystic Fibrosis
University of Pittsburgh, Swanson School of Engineering Submission Date 11.01.2016 1 Disclaimer—This paper partially fulfills a writing requirement for first year (freshman) engineering students at the University of Pittsburgh Swanson School of Engineering. This paper is a student, not a professional, paper. This paper is based on publicly available information and may not provide complete anal...
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In order to assess the evolutionary significance of molecular variation in natural populations of Drosophila melanogaster, we have started a comprehensive genetic variation study program employing a relatively large number of gene-protein loci and an array of populations obtained from various geographic locations throughout the world. In this first report we provide estimates of gene flow based...
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The affiliations for the sixteenth author are incorrect. Sekar Kathiresan is affiliated not with #9 but with #3 Center of Human Genetic Research (CHGR), Massachusetts General Hospital, Boston, Massachusetts, United States of America, #4 Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America, #5 Cardiovascular Research Center, Massachusetts General Hospital, Bosto...
متن کاملSystematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction
A fundamental challenge to contemporary genetics is to distinguish rare missense alleles that disrupt protein functions from the majority of alleles neutral on protein activities. High-throughput experimental tools to securely discriminate between disruptive and non-disruptive missense alleles are currently missing. Here we establish a scalable cell-based strategy to profile the biological effe...
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ژورنال
عنوان ژورنال: Current Opinion in Pharmacology
سال: 2017
ISSN: 1471-4892
DOI: 10.1016/j.coph.2017.09.018