Latest Nephronophthisis Stories

2012-07-11 05:33:37

A new single-gene cause of chronic kidney disease has been discovered that implicates a disease mechanism not previously believed to be related to the disease, according to new research from the University of Michigan. The research was published July 8 in the journal Nature Genetics. “In developed countries, the frequency of chronic kidney disease is continually increasing for unknown reasons. The disease is a major health burden,” says Friedhelm Hildebrandt, M.D., the...

2012-04-25 09:45:04

Primary cilia are hair-like structures which protrude from almost all mammalian cells. They are thought to be sensory and involved in sampling the cell's environment. New research, published in BioMed Central's open access journal Cilia, launched today, shows that cilia on cells in the retina and liver are able to make stable connections with each other - indicating that cilia not only are able to sense their environment but are also involved in cell communication. Primary cilia are...

2010-09-16 21:09:37

U-M researchers prove power of emerging technology as they identify new gene involved in inherited pediatric kidney disease A University of Michigan-led research team has identified a gene responsible in some families for a devastating inherited kidney disorder, thanks to a new, faster method of genetic analysis not available even two years ago.  The success offers hope that scientists can speed the painstaking search for the genes responsible for many rare diseases and test drugs to...

2009-08-10 11:40:08

U.S.-led researchers have discovered a connection between mutations in the INPP5E gene and ciliopathies, a newly emerging group of diseases. The international team of scientists, led by Dr. Joseph Gleeson, a professor at the University of California-San Diego School of Medicine, said the findings might lead to new therapies for the diseases that are caused by defects in the function or structure of cellular primary cilia, which are small cellular appendages of previously unknown function. The...

2008-08-09 10:00:00

Cone-rod dystrophies (CRDs) are a group of eye diseases caused by progressive loss of the photoreceptor cells in the retina. In a study published online in Genome Research, researchers have identified a novel mutation in a gene associated with CRD in dogs, raising hopes that potential therapies can be developed for people suffering from these eye disorders. CRD represents a heterogeneous set of disorders characterized by progressive loss of retinal cone function. As these photoreceptor cells...

Word of the Day
  • A cloth or covering, more or less ornamented, laid over the saddle or furniture of a horse, especially of a sumpter-horse or horse of state.
  • Clothing, especially sumptuous clothing; equipment; outfit.
  • To cover with a caparison, as a horse.
  • To dress sumptuously; adorn with rich dress.
This word ultimately comes from the Medieval Latin 'cappa,' cloak.