Pediatric researchers have identified a gene mutation that causes a serious lymphatic condition, and used that knowledge to restore normal lymphatic vessels in model animals. The laboratory findings may lead to a new therapy ...
Aug 28, 2018
0
7
(Medical Xpress)—Research led by King's College London has identified a new genetic variant, located on chromosome 17, associated with sporadic amyotrophic lateral sclerosis (ALS) – the most common form of motor neurone ...
Dec 3, 2013
0
0
Research carried out at the Hebrew University of Jerusalem has provided the first proof of molecular risk factors leading to type 2 diabetes, providing an “early warning” sign that could lead to new approaches ...
Dec 28, 2011
0
0
(Medical Xpress)—A new study from researchers at the University of Florida may have uncovered a critical factor that drives the relentless progression of Alzheimer's disease ― a discovery that could eventually slow its ...
Apr 16, 2013
0
0
Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy that affects multiple organ systems. People with this condition develop progressive muscle wasting and weakness in their lower legs, hands, ...
Jun 26, 2018
0
15
Glaucoma—the leading cause of vision loss worldwide—includes a heterogeneous group of disorders. Primary open-angle glaucoma (POAG) and exfoliation glaucoma (XFG) are linked to decreased outflow of aqueous humor, which ...
Apr 11, 2018
0
2
Copper is essential for many cellular functions, including cellular respiration, antioxidant defense, neurotransmitter biosynthesis and neuropeptide amidation, among others. Until recently, only two inborn errors of copper ...
Aug 18, 2022
0
60
For the first time, scientists found that in spinal muscular atrophy (SMA), the affected nerve cells that control muscle movement, or motor neurons, have defects in their mitochondria, which generate energy used by the cell. ...
Sep 15, 2016
0
18
Scientists have discovered how mutations in DNA can cause neurodegenerative disease. The discovery is an important step towards better treatment to slow the progression or delay onset in a range of incurable diseases such ...
May 13, 2019
0
116
Researchers have discovered that mutations in one of the brain's key genes could be responsible for impaired mental function in children born with an intellectual disability.
Jun 10, 2014
0
0
