Renal dysplasia in grey Alpine breed cattle unrelated to CLDN16 mutations.
نویسندگان
چکیده
S. Testoni, DVM, PhD, Department of Veterinary Clinical Sciences, University of Padua, Via Dell’Università 16, 35020, Legnaro (Padua), Italy S. Mazzariol, DVM, L. Aresu, DVM, Department of Public Health, Comparative Pathology and Veterinary Hygiene, University of Padua, Via Dell’università 16, 35020, Legnaro (Padua), Italy C. Drögemüller, DVM, PhD, Institute of Genetics, Vetsuisse Faculty, University of Berne, Bremgartenstr, 109a, 3001, Bern, Switzerland C. Piffer, DVM, Veterinary Services of Bolzano, Health Department of South Tyrol, Via Laura Conti 4, 39100, Bolzano, Italy A. Gentile, DVM, DipECBHM, Department of Veterinary Medical Sciences, University of Bologna, Via Tolara di Sopra 50, 40064, Ozzano Emilia (Bologna), Italy
منابع مشابه
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: blocking endocytosis restores surface expression of a novel Claudin-16 mutant that lacks the entire C-terminal cytosolic tail.
Mutations in the gene for Claudin-16 (CLDN16) are linked to familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), a renal Mg2+ and Ca2+ wasting disorder that leads to progressive kidney failure. More than 20 mutations have been identified in CLDN16, which, with a single exception, affect one of two extracellular loops or one of four transmembrane domains of the encoded prote...
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Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal recessive tubular disorder characterized by excessive renal magnesium and calcium excretion and chronic kidney failure. This rare disease is caused by mutations in the CLDN16 and CLDN19 genes. These genes encode the tight junction proteins claudin-16 and claudin-19, respectively, which regulate the paracellular ion...
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BACKGROUND Renal syndromes are occasionally reported in domestic animals. Two identical twin Tyrolean Grey calves exhibited weight loss, skeletal abnormalities and delayed development associated with kidney abnormalities and formation of uroliths. These signs resembled inherited renal tubular dysplasia found in Japanese Black cattle which is associated with mutations in the claudin 16 gene. Des...
متن کاملCLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive tubular disorder caused by CLDN16 mutations. CLDN16 encodes the renal tight junction protein claudin-16, which is important for the paracellular reabsorption of calcium and magnesium in the thick ascending limb of Henle’s loop. That FHHNC is frequently associated with progressive renal failure...
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ورودعنوان ژورنال:
- The Veterinary record
دوره 170 1 شماره
صفحات -
تاریخ انتشار 2012