Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5.

Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5.

Hypercalciuria is a major cause of nephrolithiasis, and is a common and complex disorder involving genetic and environmental factors. Identification of genetic factors for monogenic forms of hypercalciuria is hampered by the limited availability of large families, and to facilitate such studies, we...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	Loh, N, Bentley, L, Dimke, H, Verkaart, S, Tammaro, P, Gorvin, C, Stechman, M, Ahmad, B, Hannan, F, Piret, S, Evans, H, Bellantuono, I, Hough, T, Fraser, W, Hoenderop, J, Ashcroft, F, Brown, S, Bindels, R, Cox, R, Thakker, R
Μορφή:	Journal article
Γλώσσα:	English
Έκδοση:	Public Library of Science 2013

Παρόμοια τεκμήρια

Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5.
ανά: Nellie Y Loh, κ.ά.
Έκδοση: (2013-01-01)

Genetic aspects of hypercalciuria
ανά: Thakker, R
Έκδοση: (2005)

A family with autosomal dominant hypocalcaemia with hypercalciuria (ADHH): mutational analysis, phenotypic variability and treatment challenges.
ανά: Burren, C, κ.ά.
Έκδοση: (2005)

Isolated hypercalciuria with mutation in CLCN5: relevance to idiopathic hypercalciuria.
ανά: Scheinman, S, κ.ά.
Έκδοση: (2000)

Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation
ανά: Piret, S, κ.ά.
Έκδοση: (2016)

Tacrolimus‐induced hypomagnesemia and hypercalciuria requires FKBP12 suggesting a role for calcineurin
ανά: Brittany D. K. Gratreak, κ.ά.
Έκδοση: (2020-01-01)

Genetic analysis of the hypercalciuric rat, a model for human idiopathic hypercalciuria.
ανά: Hoopes, R, κ.ά.
Έκδοση: (1996)

Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation
ανά: Howles, S, κ.ά.
Έκδοση: (2017)

Mapping quantitative trait loci for hypercalciuria in the genetic hypercalciuric stone-forming rat.
ανά: Hoopes, R, κ.ά.
Έκδοση: (1997)

Activating mutations of the G-protein subunit α11 interdomain interface cause autosomal dominant hypocalcemia type 2
ανά: Gorvin, C, κ.ά.
Έκδοση: (2019)

Idiopathic hypercalciuria
ανά: Joanna Milart, κ.ά.
Έκδοση: (2016-03-01)

Refractory Seizure with Autosomal Dominant Hypocalcemia with Hypercalciuria with a Mutation Detected Using Whole Exome Sequencing
ανά: Seong Bae Ahn, κ.ά.
Έκδοση: (2021-01-01)

Quantitative trait loci for hypercalciuria in a rat model of kidney stone disease.
ανά: Hoopes, R, κ.ά.
Έκδοση: (2003)

Familial hypocalciuric hypercalcemia type 1 and autosomal-dominant hypocalcemia type 1: prevalence in a large healthcare population
ανά: Dershem, R, κ.ά.
Έκδοση: (2020)

Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis.
ανά: Akuta, N, κ.ά.
Έκδοση: (1997)

Familial idiopathic hypercalciuria
ανά: N Buyan, κ.ά.
Έκδοση: (1988-07-01)

Hypercalciuria in Postmenopausal Osteoporosis
ανά: Ayfer Kanberoğlu, κ.ά.
Έκδοση: (2004-06-01)

ROLE OF A VOLTAGE-GATED CHLORIDE-CHANNEL GENE CLC-5 IN HUMAN AND RAT HYPERCALCIURIA
ανά: Scheinman, S, κ.ά.
Έκδοση: (1995)

Calcilytic NPSP795 increases plasma calcium and PTH in an autosomal dominant hypocalcemia type 1 mouse model
ανά: Hannan, FM, κ.ά.
Έκδοση: (2020)

A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.
ανά: Pearce, S, κ.ά.
Έκδοση: (1996)

The role of salt abuse on risk for hypercalciuria
ανά: Padovani Carlos R, κ.ά.
Έκδοση: (2011-01-01)

Renal function in children with hypercalciuria
ανά: N Tekin, κ.ά.
Έκδοση: (1997-07-01)

Hereditary hypophosphatemic rickets with hypercalciuria
ανά: Catalina Barilari, κ.ά.
Έκδοση: (2017-04-01)

Genetic causes of hypercalciuric nephrolithiasis.
ανά: Stechman, M, κ.ά.
Έκδοση: (2009)

Genetics of hypercalciuric nephrolithiasis: renal stone disease.
ανά: Stechman, M, κ.ά.
Έκδοση: (2007)

Establishing normal plasma and 24-hour urinary biochemistry ranges in C3H, BALB/c and C57BL/6J mice following acclimatization in metabolic cages.
ανά: Stechman, M, κ.ά.
Έκδοση: (2010)

The ClC-5 knockout mouse model of Dent's disease has renal hypercalciuria and increased bone turnover.
ανά: Silva, I, κ.ά.
Έκδοση: (2003)

Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy
ανά: Gorvin, C, κ.ά.
Έκδοση: (2017)

Hypercalciuria and nephrocalcinosis in cystic fibrosis patients
ανά: Uğur Ozçelik, κ.ά.
Έκδοση: (2004-01-01)

Hypercalciuria and hyperparathyroidism — is there always a connection?
ανά: S. S. Mirnaya, κ.ά.
Έκδοση: (2022-05-01)

Hypercalciuria in Children with Monosymptomatic Nocturnal Enuresis
ανά: Mahmut Çivilibal, κ.ά.
Έκδοση: (2014-03-01)

Mutations in Are Not a Common Cause of Pediatric Idiopathic Hypercalciuria in Canada
ανά: Emma H. Ulrich, κ.ά.
Έκδοση: (2022-05-01)

Differential parathyroid and kidney Ca2+-sensing receptor activation in autosomal dominant hypocalcemia 1
ανά: Wouter H. van Megen, κ.ά.
Έκδοση: (2022-04-01)

Calcilytic NPSP795 Increases Plasma Calcium and PTH in an Autosomal Dominant Hypocalcemia Type 1 Mouse Model
ανά: Fadil M Hannan, κ.ά.
Έκδοση: (2020-10-01)

Urinary lithiasis and idiopathic hypercalciuria: the importance of dietary intake evaluation
ανά: Patricia C. G. Damasio, κ.ά.
Έκδοση: (2010-10-01)

Hypouricemia with hypercalciuria: Longitudinal study and review of the topic
ανά: Teresa Moraleda Mesa, κ.ά.
Έκδοση: (2024-03-01)

Hypercalciuria: Common but Under-diagnosed Cause of Hematuria
ανά: Naila Asif, κ.ά.
Έκδοση: (2023-04-01)

The role of hypercalciuria in pathogenesis of recurrent abdominal pain
ανά: Majid Malaki
Έκδοση: (2017-01-01)

Clinical correlation between hypercalciuria and nocturnal enuresis
ανά: Ehsan Valavi, κ.ά.
Έκδοση: (2011-01-01)

The idiopathic hypercalciuria reviewed. Metabolic abnormality or disease?
ανά: Víctor M. García Nieto, κ.ά.
Έκδοση: (2019-11-01)