Sentences with phrase «dystrophy results»

They also note that Emery - Dreifuss muscular dystrophy results from mutations in the gene that codes for emerin.

This form of muscular dystrophy results from a genetic defect in laminin - α2.

Not exact matches

Shares of Sarepta Therapeutics Inc (NASDAQ: SRPT) soared by more than 10 percent Wednesday after the company reported encouraging results from a clinical trial of a therapy intended to treat Duchenne muscular dystrophy (DMD).

Toe walking is sometimes the result of cerebral palsy, muscular dystrophy or another generalized disease of nerve and muscle.

«These results further support our clinical findings demonstrating the production of full - length functional protein in nonsense mutation Duchenne muscular dystrophy and cystic fibrosis,» said Stuart W. Peltz, Ph.D., co-founder and chief executive officer of PTC Therapeutics.

In their research, authors Sajedah M. Hindi, Ph.D., and Ashok Kumar, Ph.D., discovered that removing TRAF6 depletes Pax7, resulting in reduced muscle regeneration in both normal and Duchenne muscular dystrophy (DMD) mouse models.

Following up on these promising results, they decided to explore whether the drug SR8278 could slow the progression of muscular dystrophy in an animal model.

«New gene editing method shows promising results for correcting Muscular Dystrophy.»

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.

Results: The study revealed three novel variations in the human genome that increase risk of Fuchs dystrophy.

The results, which are published today in EMBO Molecular Medicine, show that VBP15 decreases inflammation in mice with symptoms similar to those found in patients with Duchenne muscular dystrophy.

For now, we are looking forward to seeing the results of further research into Duchenne muscular dystrophy to support these early promising results.»

The results suggest that this strategy could one day treat muscular dystrophy in humans as well as other genetic disorders.

Rapsyn mutations that result in receptors not clustering or functioning properly likely contribute to a wide range of muscle weakness seen in muscular dystrophy, Mei said.

Duchenne muscular dystrophy, which strikes in 1 out of 5,000 newborn boys, results from a genetic deficiency in dystrophin, a protein involved in repairing muscle fibers affected by daily movement and activities such as exercise.

Recently published findings from a team of researchers at the University of Massachusetts Medical School in Worcester, Mass., suggest that a modified form of this CRISPR gene - editing technology may eventually result in a cure for facioscapulohumeral muscular dystrophy (FSHD), a form of the disease that leads to progressive muscular degeneration in the face, shoulder blades and upper arms.

Following the partial clinical hold placed on the high dose of SGT - 001 in Solid Biosciences Inc.'s (MA, USA) trial program for Duchenne muscular dystrophy, the FDA's questions regarding the manufacture of the product have been addressed, resulting in the hold being lifted.

These results not only change our fundamental understanding of what exactly goes wrong in the muscles of Duchenne muscular dystrophy patients, but they argue for a very different approach to therapeutic development for this devastating disease.»

In case of a genetic mutation, the normal functioning of the mitochondria is disrupted and it results in a variety of problems, including diabetes, muscular dystrophy, deafness, dementia and heart disease.

Lai and 28 colleagues reported their results last week in the Journal of Molecular Cell Biology, saying they intend to create dogs with other DNA mutations, including ones that mimic human diseases such as Parkinson's and muscular dystrophy.

The term «severe handicap» means the disability which requires multiple services over an extended period of time and results from amputation, blindness, cancer, cerebral palsy, cystic fibrosis, deafness, heart disease, hemiplegia, mental retardation, mental illness, multiple sclerosis, muscular dystrophy, neurological disorders (including stroke and epilepsy), paraplegia, quadriplegia and other spinal cord conditions, renal failure, respiratory or pulmonary dysfunction, and any other disability specified by the Secretary in regulations he shall prescribe.

Purpose of Study: Corneal endothelial dystrophy (CED) is a devastating disease in dogs that can result in blindness and severe ocular pain from secondary complications.

Aside from the leg injury, Delilah has a myriad of other ailments that have made her life a constant uphill struggle — including heartworm disease, corneal dystrophy, a progressive disease which has left her completely blind, and a fractured maxilla, or upper jaw, most likely a result of head trauma.

Muscular dystrophy in dogs is caused by an inherited mutated dystrophin gene that disrupts the dystrophin protein production, resulting in loss of muscle function.