Abstract Search

ea0005p69 | Comparative | BES2003

Analysis of human renal chloride channel (hCLC-5) mutations based on a three-dimensional model, suggests a structural-functional relationship

Wu F , Roche P , Christie P , Loh N , Reed A , Esnouf R , Thakker R

Dent's disease is an X-linked renal tubular disorder characterised by low molecular weight proteinuria, hypercalciuria, and nephrolithiasis. The disease is caused by inactivating mutations of a renal-specific chloride channel, hCLC-5, that belongs to the family of mammalian voltage-gated chloride channels (CLCs). Heterologous expression of wild-type CLC-5 in Xenopus oocytes results in chloride (Cl-) conductance, which is markedly reduced or abolished by the m...

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ea0019p7 | Bone | SFEBES2009

A mouse model, Hcalc1, for autosomal dominant hypercalciuria is due to a transient receptor potential cation channel, subfamily V, member 5 (Trpv5) mutation

Loh N , Stechman M , Ahmad B , Hannan F , Hough T , Chiev K-P , Stewart M , Bentley L , Cox R , Brown S , Thakker R

To identify genes causing hypercalciuria, we screened male offspring of C57BL/6J male mice mutagenised by N-ethyl-N-nitrosourea (ENU) for this abnormality. Mice were kept in accordance with UK Home Office welfare guidelines and project licence restrictions. Metabolic cage studies were performed to collect 24-hour urine samples, and this revealed one mouse with hypercalciuria (Hcalc1). Inheritance testing demonstrated that Hcalc1 was inherited as an autosomal domi...

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Endocrine Abstracts

Analysis of human renal chloride channel (hCLC-5) mutations based on a three-dimensional model, suggests a structural-functional relationship

A mouse model, Hcalc1, for autosomal dominant hypercalciuria is due to a transient receptor potential cation channel, subfamily V, member 5 (Trpv5) mutation

BiosciAbstracts