Analysis of CAG/CTG triplet repeats in the human genome: implication in transcription factor gene regulation [PDF]
, 1995 Instability and polymorphism at several CAG/CTG trinucleotide repeat loci have been associated with human genetic disorders. In an attempt to identify novel sites that may be possible loci for expansion of CAG/CTG repeats, we searched all human sequences
Bhandari, Rashna, Brahmachari, Samir K.
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Physical exercise and oxidative stress in muscular dystrophies: is there a good balance? Exercise and oxidative stress in MDs [PDF]
, 2017 The effect of oxidative stress on muscle damage inducted by physical exercise is widely debated. It is generally agreed that endurance and intense exercise can increase oxidative stress and generate changes in antioxidant power inducing muscle damage ...
Chico, Lucia +4 more
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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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Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues [PDF]
, 1995 We have analyzed the intracellular localization of transcripts from the myotonin protein kinase (Mt-PK) gene in fibroblasts and muscle biopsies from myotonic dystrophy patients and normal controls.
Housman, David +4 more
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Expression of a novel human myotonin protein kinase (MtPK) cDNA clone which encodes a protein with a thymopoietin‐like domain in COS cells [PDF]
FEBS Letters, 1994 A full‐length cDNA of human myotonin protein kinase (MtPK) was cloned and expressed in COS‐1 cells. MtPK is recovered from the cytosolic fraction of the COS extract as a 70 kDa protein, which coincides with the size deduced from the predicted amino acid sequence.
Sasagawa, Noboru +5 more
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In vivo assessment of muscle membrane properties in myotonic dystrophy [PDF]
, 2016 INTRODUCTION: Myotonia in myotonic dystrophy types 1 (DM1) and 2 (DM2) is generally attributed to reduced chloride channel conductance. We used muscle velocity recovery cycles (MVRCs) to investigate muscle membrane properties in DM1 and DM2, with ...
Bostock, H +5 more
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Myotonic dystrophy type 1 (DM1) and speech problems [PDF]
, 2017 Myotonic Dystrophy type 1(DM1), also called Steinert syndrome, is a multisystemic disorder transmitted in an autosomal dominant manner, characterized by myotonia. Muscles involved in voluntary movement are highly affected by myotonia especially distal
Baptista, Helena, Cardoso, Inês Lopes
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The expansion of 300 CTG repeats in myotonic dystrophy transgenic mice does not induce sensory or motor neuropathy [PDF]
, 2018 Summary: Although many studies have been carried out to verify the involvement of the peripheral nervous system (PNS) in dystrophia myotonica (DM1) patients, the results remain controversial. The generation of DM1 transgenic mice displaying the human DM1
Barakat-Walter, I. +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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Muscular Dystrophies at Different Ages: Metabolic and Endocrine Alterations [PDF]
, 2012 Common metabolic and endocrine alterations exist across a wide range of muscular dystrophies. Skeletal muscle plays an important role in glucose metabolism and is a major participant in different signaling pathways.
Chávez García, Ana Laura +2 more
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