Paracellin

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August undefined, 2024

Webtermed paracellin-1 (PCLN-1), was determined (14) and sequence analysis showed that it en-codes a protein of 305 amino acids (Fig. 2A) with four transmembrane domains and intracel-lular NH 2 - and COOH-termini (11, 15). The PCLN-1 protein shows sequence …

Paracellin-1 gene mutation with multiple congenital abnormalities

WebOct 1, 2001 · Paracellin-1 protein model deduced from hydrophilicity plots. Amino acid residues affected by PCLN-1 mutations in the cohort of families F1 to F25 are depicted in black (novel PCLN-1 mutations are ... WebClaudin 16. Claudin 16 (also termed paracellin 1) is a 305-aa protein with four transmembrane domains and intracellular amino and carboxyl terminals that is expressed within the intercellular tight junctions of renal epithelial cells in the TALH and distal … c-free c++11

Ciclosporin reduces paracellin-1 expression and magnesium …

WebJul 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 … 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 … WebJun 6, 2007 · a Detection of paracellin-1 transcripts in human salivary glands by RT-PCR.A Gl.submandibularis, C Gl. parotis, E Gl. labialis, G Gl. sublingualis; B, D, F, H controls lacking reverse transcriptase.The 934 bp fragments represent the expected PCLN-1 … bybit short selling

Identification and subcellular localization of paracellin-1 ... - Springer

Entry - *603959 - CLAUDIN 16; CLDN16 - OMIM

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 … Webtermed paracellin-1 (PCLN-1), was determined (14) and sequence analysis showed that it en-codes a protein of 305 amino acids (Fig. 2A) with four transmembrane domains and intracel-lular NH 2 - and COOH-termini (11, 15). The PCLN-1 protein shows sequence and struc-tural similarity to members of the claudin family (Fig. 2A) (15, 16) and is the most bybit short vs longWebThe most frequent clostridial infection is minor, self-limited gastroenteritis, typically due to C. perfringens type A. Serious clostridial diseases are relatively rare but can be fatal. Abdominal disorders, such as cholecystitis, peritonitis, ruptured appendix, and bowel perforation can involve C. perfringens, C. ramosum, and many others. bybit sms認証

"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 … " - Paracellin

Paracellin

WebNov 1, 2006 · Paracellin-1 (claudin-16) is a renal tight junction protein encoded by the CLDN16 gene [].It is a key player in magnesium and calcium reabsorption in the thick ascending limb of Henle’s loop [].Mutations in CLDN16 gene lead to familial … WebMutations 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 …

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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. ... WebFamilial 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.

WebRemarkably, paracellin-1 was found to be homologous to the claudin family of tight junction proteins. This discovery provides a plausible explanation for the finding that different members of the claudin family of proteins are expressed in different epithelia. Claudin 16 (or paracellin-1) is expressed in the thick ascending limb of Henle where ... 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, …

WebAug 1, 2007 · a Detection of paracellin-1 transcripts in human salivary glands by RT-PCR. A Gl. submandibularis, C Gl. parotis, E Gl. labialis, G Gl. sublingualis; B, D, F, H controls lacking reverse transcriptase. WebIn immunohistochemical studies paracellin-1 colocalised in the salivary excretory ducts with the tight junction proteins ZO-1 and occludin suggesting a potential role in paracellular calcium and magnesium transport. In the acini no such colocalisation was observed; …

WebFHHNC results from mutations in paracellin-1, a tight-junction protein that appears to be important in conducting or regulating paracellular cation transport. Impaired function of paracellin-1 leads specifically to urinary losses of magnesium and calcium, but because …

WebOct 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 … bybit sedeWebParacellin-1 is a tight junction protein, which regulates the paracellular Mg 2+ transport in the TAL. We hypothesize that CsA reduces the expression and function of paracellin-1 and accounts for the observed renal Mg 2+ wasting. Methods. We established an immortalized cultured cortical TAL (cTAL) cell line from L-PK/Tag1 transgenic mice by ... bybit simplexWebMutations 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 … bybit software