Researchers at Wake Forest University Baptist Medical Center and the University of Pittsburgh report in the current Journal of Medical Genetics that they have found defects in the gene that produces a common protein in urine and that these defects are linked to two inherited kidney diseases.
For six years, the researchers had studied a family from Western North Carolina that has been plagued with a rare kidney disease, trying to learn more about the genetics of the disease. Anthony J. Bleyer, M.D., associate professor of internal medicine (nephrology) at Wake Forest, said the gene ordinarily produces a protein called either uromodulin or Tamm-Horsfall protein. Uromodulin is the most common protein released into the urine, but its function is unclear.
Bleyer said that Thomas C. Hart, D.D.S., Ph.D. of the University of Pittsburgh and formerly of Wake Forest, had identified mutations in the gene leading to defects in the protein. Defects in this protein led to a disease called familial juvenile hyperuricemic nephropathy in the North Carolina family and two other families. It also appears responsible for a disease called medullary cystic kidney disease Type 2 in another family.
Robert Conn | alfa
New risk factors for anxiety disorders
24.02.2017 | Julius-Maximilians-Universität Würzburg
Stingless bees have their nests protected by soldiers
24.02.2017 | Johannes Gutenberg-Universität Mainz
Cells need to repair damaged DNA in our genes to prevent the development of cancer and other diseases. Our cells therefore activate and send “repair-proteins”...
The Fraunhofer IWS Dresden and Technische Universität Dresden inaugurated their jointly operated Center for Additive Manufacturing Dresden (AMCD) with a festive ceremony on February 7, 2017. Scientists from various disciplines perform research on materials, additive manufacturing processes and innovative technologies, which build up components in a layer by layer process. This technology opens up new horizons for component design and combinations of functions. For example during fabrication, electrical conductors and sensors are already able to be additively manufactured into components. They provide information about stress conditions of a product during operation.
The 3D-printing technology, or additive manufacturing as it is often called, has long made the step out of scientific research laboratories into industrial...
Nature does amazing things with limited design materials. Grass, for example, can support its own weight, resist strong wind loads, and recover after being...
Nanometer-scale magnetic perforated grids could create new possibilities for computing. Together with international colleagues, scientists from the Helmholtz Zentrum Dresden-Rossendorf (HZDR) have shown how a cobalt grid can be reliably programmed at room temperature. In addition they discovered that for every hole ("antidot") three magnetic states can be configured. The results have been published in the journal "Scientific Reports".
Physicist Dr. Rantej Bali from the HZDR, together with scientists from Singapore and Australia, designed a special grid structure in a thin layer of cobalt in...
13.02.2017 | Event News
10.02.2017 | Event News
09.02.2017 | Event News
24.02.2017 | Life Sciences
24.02.2017 | Life Sciences
24.02.2017 | Trade Fair News