Paracellin
WebMay 1, 2006 · Although paracellin-1 (PCLN-1) is known to have a crucial role in the control of Mg 2+ reabsorption in the kidney, the molecular pathways involved in the regulation of PCLN-1 have not been clarified. We used FLAG-tagged PCLN-1 to investigate these pathways further, and found that PCLN-1 is phosphorylated at Ser217 by protein kinase … WebA new protein, named paracellin 1 (PCLN-1), expressed in human thick ascending limb (TAL) tight junctions, possibly plays a critical role in the control of magnesium and calcium reabsorption, since mutations of PCLN-1 are present in the hypomagnesemia hypercalciuria syndrome (HHS). However, no functional experiments have demonstrated that TAL ...
Paracellin
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Webg limb of Henle's loop. Mutations in PCLN-1, which encodes the renal tight junction protein paracellin-1 (claudin-16), were identified as the underlying genetic defects. Comprehensive clinical data and the results of PCLN-1 mutation analysis of 25 FHHNC families with 33 affected individuals are presented. Patients presented mainly with urinary tract infections, … WebOct 1, 2008 · They found that FHHNC was caused by mutations in paracellin-1, which is now considered to be claudin-16. In the past few years, research in this area has proliferated, and several comprehensive general reviews of this have recently been published (89, 99, 103). In this article, we focus on reviewing recent discoveries …
WebHypokalemia can result from insufficient dietary potassium intake, intracellular shifting of potassium from the extracellular space, or potassium loss (renal or extra-renal) ( Table 21–3 ). Genetic disorders can be associated with some electrolyte disturbances ( eTable 21–1 ). A low dietary potassium intake is usually not sufficient as the ... Webg limb of Henle's loop. Mutations in PCLN-1, which encodes the renal tight junction protein paracellin-1 (claudin-16), were identified as the underlying genetic defects. Comprehensive clinical data and the results of PCLN-1 mutation analysis of 25 FHHNC families with 33 …
WebBackground: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive tubular disorder that eventually progresses to renal failure, depending upon the extent of nephrocalcinosis. Its basic pathogenesis is impaired … WebFeb 13, 2007 · Paracellin-1 (claudin-16), encoded by the PCLN-1 gene, was a key player in paracellular Mg 2+ reabsorption in the thick ascending limb (TAL) and was found to play an important role in the Mg 2+ renal handling [ 3]. Prolonged ciclosporin (CsA) usage is associated with the development of lower serum Mg 2+ levels.
WebBACKGROUND: A new protein, named paracellin 1 (PCLN-1), expressed in human thick ascending limb (TAL) tight junctions, possibly plays a critical role in the control of magnesium and calcium reabsorption, since mutations of PCLN-1 are present in the …
WebNovel Paracellin-1 Mutations in 25 Families with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis . × Close Log In. Log in with Facebook Log in with Google. or. Email. Password. Remember me on this computer. or reset password. Enter the email address you signed up with and we'll email you a reset link. ... redken high rise shampooWebFamilial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal recessive renal tubular disorder characterized by renal magnesium wasting, hypercalciuria, advanced nephrocalcinosis and progressive renal failure. Mutations in the paracellin-1 (CLDN16) gene have been defined as the underlying genetic defect. redken high volume shampooWebJul 1, 2001 · A new protein, named paracellin 1 (PCLN-1), expressed in human thick ascending limb (TAL) tight junctions, possibly plays a critical role in the control of magnesium and calcium reabsorption ... redken humidity resistant hairsprayWebJul 2, 1999 · Renal magnesium ion (Mg2+) resorption occurs predominantly through a paracellular conductance in the thick ascending limb of Henle (TAL). Here, positional cloning has identified a human gene, paracellin-1 (PCLN-1), mutations in which cause renal … richard bennett clothing brookfield squareWebMutations in PCLN-1, which encodes the renal tight junction protein paracellin-1 (claudin-16), were identified as the underlying genetic defects. Comprehensive clinical data and the results of PCLN-1 mutation analysis of 25 FHHNC families with 33 affected individuals … richard bennett custom tailorsWebNov 1, 2005 · Tight junctions play a key selectivity role in the paracellular conductance of ions. Paracellin-1 is a member of the tight junction claudin protein family and mutations in the paracellin-1 gene cause a human hereditary disease, familial hypomagnesemia with … richard bennett obituaryWebOct 30, 2003 · Recently, paracellin-1 was identified as a renal tight junction protein predominantly expressed in TAL. Mutations of its gene (CLDN16) have been shown to cause FHHNC. We describe a sporadic Japanese case of FHHNC. The male patient showed hematuria, hypercalciuria, and nephrocalcinosis at 5 years of age. Hypomagnesemia … richard bennett family tree