Sentences with word «myotonic»
The word "myotonic" refers to a medical condition that affects a person's muscles. It describes a situation where the muscles have a harder time relaxing after contracting, causing stiffness and difficulty in movement. Full definition
These repeats, called CTG expansions in myotonic dystrophy type 1, become «toxic» when transcribed from DNA.
sciencedaily.com
A defective Krab - domain zinc - finger transcription factor contributes to altered myogenesis in myotonic dystrophy type 1.
Graduate students, from left, Long Luu and Lien Nguyen, with University of Illinois chemistry professor Steven Zimmerman, developed drug compounds that target three pathways associated with myotonic dystrophy type 1.
Because the anticancer compound works by binding to troublesome expansions in DNA, the researchers decided to test whether it would work in cells and a mouse model of myotonic dystrophy type 1.
The proof of concept of such approach has been initiated in the team on a PGD - derived hES cells carrying the causative mutation for Myotonic Dystrophy type 1 (DM1).
CpG methylation, a parent - of - origin effect for maternal - biased transmission of congenital myotonic dystrophy.
Individuals with myotonic MD have long, thin faces, drooping eyelids, and a swan - like neck.
A colony of Miniature Schnauzers with Myotonic Myopathy has been established at the University of Pennsylvania in order to further the study of this disorder.
«Drugs with multiple targets show promise against myotonic dystrophy type 1.»
Efforts to treat myotonic dystrophy type 1, the most common form of muscular dystrophy, are in their infancy.
mTOR - dependent proliferation defect in human ES - derived neural stem cells affected by myotonic dystrophy type 1.
What they found could provide benefits for patients with the genetic disease myotonic dystrophy (DM) and possibly the sleep disorder idiopathic hypersomnia (IH).
This paper was selected for the Trainee Paper Spotlight because it sheds light into the genetic mechanisms underlying myotonic dystrophy.
Dr. Barbé: The molecular mechanisms responsible for the onset and severity of repeat diseases, such as myotonic dystrophy and Huntington's disease, are largely unknown.
Primary testicular failure Klinefelter syndrome Cryptorchidism Orchitis Trauma HIV / AIDS Myotonic muscular deficiency Retroperitoneal fibrosis Aging Hypogonadotropic hypogonadism Kallman syndrome Prader - Willi syndrome Idiopathic hypopituitarism Pituitary tumors Suprasellar tumors Hemochromatosis Inflammatory, traumatic, vascular lesions of pituitary and hypothalamus Obesity Severe chronic illnesses Medication Andropause
An international joint research group found that the cause of heart arrhythmia in myotonic dystrophy was RNA abnormalities in the sodium channel in the heart, clarifying the symptom's mechanism.
Four research teams of I - Stem have joined forces in a collaborative project that has just achieved a first pilot therapy - oriented screen of compounds and RNA interference aiming at reversing the altered phenotypes observed in human embryonic stem cells carrying the mutant gene for myotonic dystrophy type 1.
The authors demonstrate that hypermethylation upstream of the maternally inherited allele correlates with a severe version of the disease, congenital myotonic dystrophy.
Myotonic MD is the disorder's most common adult form and is typified by prolonged muscle spasms, cataracts, cardiac abnormalities, and endocrine disturbances.
This specific disease of muscles appears to be found only in our breed and is now known medically as Myotonia or Myotonic Myopathy.
A group of researchers has shown for the first time in cells and in a mouse model that a drug used to treat cancer can neutralize the toxic RNA that causes the prolonged muscle contractions and other symptoms of myotonic dystrophy type 1, the most common form of adult - onset muscular dystrophy.
This paper shows that methylation rather than repeat size dictates disease severity in patients with myotonic dystrophy.
An international team, including researchers in France at Inserm, CNRS and the University of Strasbourg, brought together at IGBMC is lifting the veil on the molecular mechanisms causing heart dysfunctions in myotonic dystrophy, a genetic disease affecting one person in 8,000.
RNA defects can lead to cancers, amyotrophic lateral sclerosis (ALS), myotonic dystrophy and many other diseases.
In myotonic dystrophic patients, titration of MBNL protein by RNA containing expanded CUG repeats leads to expression of a fetal splicing form of the cardiac sodium channel, SCN5A, inappropriate to adult heart physiology, ultimately resulting in cardiac conduction delay and heart arrhythmias, which are two key features of myotonic dystrophy.
Myotonic dystrophy, or DM is the most common muscular dystrophy in adults.
Myotonic dystrophy is due to a mutation leading to the expression of RNA containing long repetitive sequences of the CUG trinucleotide.
This is an alternative splicing model of the cardiac sodium channel (SCN5A) in myotonic dystrophy.
Myotonic dystrophy, also known as Steinert disease, is the commonest adult form of muscular dystrophy.
In myotonic dystrophy and other related neurological disorders, the symptoms stem from repeated individual nucleotides, or «building blocks,» in the RNA in muscle tissue cells that can build up over time.
«Cancer drug shows promise in reducing toxic genetic material in myotonic dystrophy.»
Validating this original concept, we previously demonstrated that PGD - derived hES cells and their derivatives, which express the causal mutation implicated in the Myotonic Dystrophy type 1 (DM1), offer pertinent disease - cell models, applicable for a wide systemic mechanistic analysis ranging from functional studies at the cellular level to a large - scale drug screening.
As a proof of principle, we demonstrated that PGD - derived hES cells and derivatives which, express the causal mutation implicated in the Myotonic Dystrophy type 1 (DM1), may mimic molecular defects associated to the pathology.
For the first time, through the use of human embryonic stem cells (hES) sourced from pre-implantation diagnosis, researchers from Inserm's Institute for Stem Cell Therapy and Exploration of Monogenic Diseases (I - Stem) have successfully identified the previously unknown mechanisms involved in Steinert» disease, also known as type 1 myotonic dystrophy.
At the Myotonic Dystrophy Foundation meeting in September, a session was held gathering patient input on central nervous system (CNS) symptoms, so that future clinical trials could track those symptoms more rigorously.
Muscular dystrophies are an inherited group of disorders, and include Duchenne and Becker, Emery Driefuss, limb - girdle, myotonic, facioscapulohumeral, and distal types.
We demonstrated the proof of this concept by identifying new genes participating to the Myotonic Dystrophy type 1 (DM1) pathogenesis.
Validating this concept, we previously demonstrated that human pluripotent stem cells and derivatives which, express the causal mutation implicated in the Myotonic Dystrophy type 1 (DM1), offer pertinent disease - cell models, applicable for a wide systemic analysis ranging from mechanistic studies to therapeutic screening.
This is already underway for a compound whose corrective effect was observed in cells carrying a mutation responsible for myotonic dystrophy type I.
7000 compounds were tested on human mesenchymal stem cells carrying Type 1 myotonic dystrophy.
Utilising the RDRF, we have deployed national and international patient - driven and clinical registries including: the Myotubular and Centronuclear Myopathy Patient Registry, the Global Angelman Syndrome Registry, the Familial Hypercholesterolaemia Australasia Network Registry, and the Australian and New Zealand Neuromuscular Disorders Registries (Duchenne Muscular Dystrophy, Spinal Muscular Atrophy, and Myotonic Dystrophy Registries).
Dr Graham is the National coordinator of the Australian Neuromuscular Disorders Registries that includes Duchenne Muscular Dystrophy, Myotonic Dystrophy, and Spinal Muscular Atrophy.