Search Results - "Weiss, Robert B"
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Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program
Published in Neurology (16-02-2021)“…To determine whether the genetic prevalence of the CTG expansion in the gene associated with myotonic dystrophy type 1 (DM1) in an unbiased cohort is higher…”
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Gut microbes of mammalian herbivores facilitate intake of plant toxins
Published in Ecology letters (01-10-2014)“…The foraging ecology of mammalian herbivores is strongly shaped by plant secondary compounds (PSCs) that defend plants against herbivory. Conventional wisdom…”
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Evidence-based path to newborn screening for duchenne muscular dystrophy
Published in Annals of neurology (01-03-2012)“…Objective: Creatine kinase (CK) levels are increased on dried blood spots in newborns related to the birthing process. As a marker for newborn screening, CK in…”
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4
Stochasticity, determinism, and contingency shape genome evolution of endosymbiotic bacteria
Published in Nature communications (29-05-2024)“…Evolution results from the interaction of stochastic and deterministic processes that create a web of historical contingency, shaping gene content and…”
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LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy
Published in Annals of neurology (01-04-2013)“…Objective Duchenne muscular dystrophy (DMD) displays a clinical range that is not fully explained by the primary DMD mutations. Ltbp4, encoding latent…”
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Nicotinic alpha 7 receptor expression and modulation of the lung epithelial response to lipopolysaccharide
Published in PloS one (06-04-2017)“…Nicotine modulates multiple inflammatory responses in the lung through the nicotinic acetylcholine receptor subtype alpha7 (α7). Previously we reported that α7…”
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A novel human-infection-derived bacterium provides insights into the evolutionary origins of mutualistic insect-bacterial symbioses
Published in PLoS genetics (01-11-2012)“…Despite extensive study, little is known about the origins of the mutualistic bacterial endosymbionts that inhabit approximately 10% of the world's insects. In…”
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Interplay of Genetic Risk Factors (CHRNA5-CHRNA3-CHRNB4) and Cessation Treatments in Smoking Cessation Success
Published in The American journal of psychiatry (01-07-2012)“…When smokers were separated by their nicotinic receptor gene variants, those with the low-risk genotype responded equally well to pharmacological treatments,…”
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Peroxinectin catalyzed dityrosine crosslinking in the adhesive underwater silk of a casemaker caddisfly larvae, Hysperophylax occidentalis
Published in Insect biochemistry and molecular biology (01-11-2014)“…Aquatic caddisfly larvae use sticky silk fibers as an adhesive tape to construct protective composite structures under water. Three new silk fiber components…”
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Analysis of Dystrophin Deletion Mutations Predicts Age of Cardiomyopathy Onset in Becker Muscular Dystrophy
Published in Circulation. Cardiovascular genetics (01-12-2009)“…Analysis of Dystrophin Deletion Mutations Predicts Age of Cardiomyopathy Onset in Becker Muscular Dystrophy Rita Wen Kaspar, PhD, RN ; Hugh D. Allen, MD ; Will…”
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Self-Tensioning Aquatic Caddisfly Silk: Ca2+-Dependent Structure, Strength, and Load Cycle Hysteresis
Published in Biomacromolecules (14-10-2013)“…Caddisflies are aquatic relatives of silk-spinning terrestrial moths and butterflies. Casemaker larvae spin adhesive silk fibers for underwater construction of…”
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Adaptation by Deletogenic Replication Slippage in a Nascent Symbiont
Published in Molecular biology and evolution (01-08-2016)“…As a consequence of population level constraints in the obligate, host-associated lifestyle, intracellular symbiotic bacteria typically exhibit high rates of…”
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Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy
Published in PloS one (15-12-2017)“…The collagen VI related muscular dystrophies (COL6-RD), Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) are among the most common…”
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A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction
Published in PLoS genetics (01-07-2008)“…People who begin daily smoking at an early age are at greater risk of long-term nicotine addiction. We tested the hypothesis that associations between…”
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Systemic delivery of an AAV9 exon-skipping vector significantly improves or prevents features of Duchenne muscular dystrophy in the Dup2 mouse
Published in Molecular therapy. Methods & clinical development (08-09-2022)“…Duchenne muscular dystrophy (DMD) is typically caused by mutations that disrupt the DMD reading frame, but nonsense mutations in the 5′ part of the gene induce…”
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Accelerated evolution of mitochondrial but not nuclear genomes of Hymenoptera: new evidence from crabronid wasps
Published in PloS one (06-03-2012)“…Mitochondrial genes in animals are especially useful as molecular markers for the reconstruction of phylogenies among closely related taxa, due to the…”
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Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene
Published in Human mutation (01-03-2011)“…Nonsense mutations are usually predicted to function as null alleles due to premature termination of protein translation. However, nonsense mutations in the…”
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Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45
Published in Annals of neurology (01-04-2015)“…Objective Exon‐skipping therapies aim to convert Duchenne muscular dystrophy (DMD) into less severe Becker muscular dystrophy (BMD) by altering pre‐mRNA…”
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EGO, a novel, noncoding RNA gene, regulates eosinophil granule protein transcript expression
Published in Blood (15-06-2007)“…Gene expression profiling of early eosinophil development shows increased transcript levels of proinflammatory cytokines, chemokines, transcription factors,…”
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Patterns of host gene expression associated with harboring a foregut microbial community
Published in BMC genomics (06-09-2017)“…Harboring foregut microbial communities is considered a key innovation that allows herbivorous mammals to colonize new ecological niches. However, the…”
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