Complexity of Model Testing for Dynamical Systems with Toric Steady States
, 2019 In this paper we investigate the complexity of model selection and model testing for dynamical systems with toric steady states. Such systems frequently arise in the study of chemical reaction networks.
Adamer, Michael F, Helmer, Martin
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Cellular and molecular mechanisms underlying muscular dystrophy [PDF]
, 2014 The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have ...
Kunkel, Louis M., Rahimov, Fedik
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Identification of 8 new mutations in Brazilian families with Marfan syndrome [PDF]
Human Mutation, 1999 To determine the founder of Indian myotonic dystrophy mutation, we have studied the expansion of CTG repeats in myotonin protein kinase gene and two intragenic linked loci Alu(ins) / Alu(del) and G/T intron 9 HinfI polymorphism in ten unrelated DM patients from eastern India.
Nitai P. Bhattacharyya +4 more
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DNA damage induces nuclear actin filament assembly by Formin-2 and Spire-1/2 that promotes efficient DNA repair [PDF]
, 2015 © The Author(s), 2015. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in eLife 4 (2015): e07735, doi:10.7554/eLife.07735.Actin filaments assemble inside the nucleus in ...
Belin, Brittany J. +2 more
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The proposal of a clinical protocol to assess central and peripheral fatigue in myotonic dystrophy type 1 [PDF]
, 2017 DM1 is an autosomal-dominant disorder characterized by muscle weakness, myotonia, and multisystemic involvement. According to current literature fatigue and daytime sleepiness are among the main symptoms of DM1.
BALDANZI, SIGRID +6 more
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Distrofia Miotônica Tipo 1: Frequência Dos Achados Oftalmológicos [PDF]
, 2017 The purpose of the study was to evaluate the frequency of ophthalmologic abnormalities in a cohort of myotonic dystrophy type 1 (DM1) patients and to correlate them with motor function.
de Carvalho K.M. +5 more
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Loss of muscleblind-like 1 results in cardiac pathology and persistence of embryonic splice isoforms. [PDF]
, 2015 Cardiac dysfunction is a prominent cause of mortality in myotonic dystrophy I (DM1), a disease where expanded CUG repeats bind and disable the muscleblind-like family of splice regulators.
Choi, Jongkyu +8 more
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Genetic and systems level analysis of Drosophila sticky/citron kinase and dFmr1 mutants reveals common regulation of genetic networks [PDF]
, 2008 Background In Drosophila, the genes sticky and dFmr1 have both been shown to regulate cytoskeletal dynamics and chromatin structure. These genes also genetically interact with Argonaute family microRNA regulators.
Bauer, Christopher R +4 more
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, 2018 Hereditary myopathies are inherited disorders primarily affecting the skeletal muscle tissue. These are caused by mutations in different genes-encoding proteins that play important roles in muscle structure and function.
Bevilacqua, Jorge Alfredo +2 more
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Exploring the roles of stress, codon usage, and RNA modifications in myotonic dystrophy type 1 [PDF]
, 2022 Myotonic dystrophy (DM), the most common form of muscular dystrophy, is a neuromuscular disease caused by microsatellite repeat expansions. It can represent a multi-systemic autosomal dominant disease with DM1 and DM2 subtypes. A cytosine-thymine-guanine
Golestanian, Afrooz
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