Joubert Syndrome
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Researchers from Newcastle University report on findings in nephritis
2009 MAY 18 - (NewsRx.com) -- According to recent research from the United Kingdom, "Nephronophthisis (NPHP) is an autosomal recessive kidney disorder characterized by chronic tubulointerstitial nephritis and leading to end-stage renal failure. NPHP as a renal entity is often part of a multisystem disorder and has been associated with many syndromes including Joubert syndrome (and related disorders) and Senior-Loken syndrome." "Recent molecular genetic advances have allowed identification of several genes underlying NPHP. Most of these genes express their protein products, named nephrocystins, in primary cilial/basal body structures. Some nephrocystins are part of adherens junction and focal adhesion kinase protein complexes. This shared localization suggests that common pathogenic mechanisms within the kidney underlie this disease," wrote R.J. Simms and colleagues, Newcastle University. The researchers concluded: "Functional studies implicate nephrocystins in planar cell polarity pathways, which may be crucial for renal development and maintenance of tubular architecture." Simms and colleagues published their study in European Journal of Human Genetics (Nephronophthisis. European Journal of Human Genetics, 2009;17(4):406-416). For additional information, contact J.A. Sayer, Newcastle University, Institute Human Genetics, International Center Life, Cent. Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, UK. Publisher contact information for the European Journal of Human Genetics is: Nature Publishing Group, Macmillan Building, 4 Crinan St., London N1 9XW, England. Keywords: United Kingdom, Autosomal Recessive Kidney, Chronic Kidney Failure, Joubert Syndrome, Kidney, Nephritis, Nephrology, Neurology, Renal Failure, Senior-Loken Syndrome, Newcastle University. This article was prepared by Gastroenterology Week editors from staff and other reports. Copyright 2009, Gastroenterology Week via NewsRx.com.
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