The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis.

The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis.

Recent advances in molecular biology have characterised a new class of chloride channels (CLCs) that are referred to as voltage-gated CLCs. To date nine such voltage-gated CLCs (CLC-1 to CLC-7, CLC-Ka and CLC-Kb, which are encoded by the genes CLCN1 to CLCN7, CLC-Ka and CLC-Kb, respectively) have be...

Volledige beschrijving

Bibliografische gegevens
Hoofdauteur:	Thakker, R
Formaat:	Journal article
Taal:	English
Gepubliceerd in:	1998

Gelijkaardige items

Hypercalciuric nephrocalcinosis in Japanese children due to mutations of the renal chloride channel (CLCN5).
door: Lloyd, SE, et al.
Gepubliceerd in: (1996)

Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).
door: Lloyd, SE, et al.
Gepubliceerd in: (1997)

Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.
door: Lloyd, SE, et al.
Gepubliceerd in: (1997)

THE GENE CAUSING DENTS DISEASE, A RENAL FANCONI SYNDROME WITH NEPHROCALCINOSIS AND KIDNEY-STONES, IS ON THE SHORT ARM OF THE X-CHROMOSOME (XP11.22)
door: Thakker, R, et al.
Gepubliceerd in: (1993)

Chloride channels in renal disease.
door: Thakker, R
Gepubliceerd in: (1999)

Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.
door: Pook, M, et al.
Gepubliceerd in: (1993)

Renal chloride channel, CLCN5, mutations in Dent's disease.
door: Cox, J, et al.
Gepubliceerd in: (1999)

Characterization of renal chloride channel (CLCN5) mutations in Dent's disease.
door: Yamamoto, K, et al.
Gepubliceerd in: (2000)

Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome.
door: Thakker, R
Gepubliceerd in: (2000)

Molecular pathology of renal chloride channels and calcium metabolism
door: Thakker, R
Gepubliceerd in: (2003)

Urinary Stones in Neonates: Dilemma Between Urolithiasis and Nephrocalcinosis
door: Fatma Narter, et al.
Gepubliceerd in: (2015-03-01)

Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease.
door: Igarashi, T, et al.
Gepubliceerd in: (1998)

Symptomatic renal papillary varicosities and medullary nephrocalcinosis
door: Brent Cleveland, et al.
Gepubliceerd in: (2021-11-01)

Expression of osteogenic proteins in kidneys of cats with nephrocalcinosis
door: Nuttha Hengtrakul, et al.
Gepubliceerd in: (2025-01-01)

Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis.
door: Akuta, N, et al.
Gepubliceerd in: (1997)

Genetics of kidney stone disease
door: Howles, SA, et al.
Gepubliceerd in: (2020)

A familial syndrome due to Arg648Stop mutation in the X-linked renal chloride channel gene.
door: Bosio, M, et al.
Gepubliceerd in: (1999)

ClC-5 chloride channel and kidney stones: what is the link?
door: I.V. Silva, et al.
Gepubliceerd in: (2001-03-01)

Clinical outcomes of nephrocalcinosis in preschool-age children: association between nephrocalcinosis improvement and long-term kidney function
door: Hyun Ah Woo, et al.
Gepubliceerd in: (2023-10-01)

Clinical recognition of X-linked recessive nephrocalcinosis (XRN) in childhood.
door: Langlois, V, et al.
Gepubliceerd in: (1997)

Chloride channels cough up.
door: Thakker, R
Gepubliceerd in: (1997)

Low molecular weight ('tubular') proteinuria in patients with mutations of the CLCN5 renal chloride channel gene.
door: Norden, A, et al.
Gepubliceerd in: (1999)

Mice With a Brd4 Mutation Represent a New Model of Nephrocalcinosis
door: Gorvin, CM, et al.
Gepubliceerd in: (2019)

Genetics of hypercalciuric nephrolithiasis: renal stone disease.
door: Stechman, M, et al.
Gepubliceerd in: (2007)

Specific populations of urinary extracellular vesicles and proteins differentiate type 1 primary hyperoxaluria patients without and with nephrocalcinosis or kidney stones
door: Muthuvel Jayachandran, et al.
Gepubliceerd in: (2020-11-01)

Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship.
door: Wu, F, et al.
Gepubliceerd in: (2003)

Primary Hyperaldosteronism and Renal Medullary Nephrocalcinosis: A Controversial Association
door: Raiz Ahmad Misgar, et al.
Gepubliceerd in: (2021-05-01)

Distal Renal Tubular Acidosis in Adolescence with Severe Growth Retardation and Nephrocalcinosis
door: M R Sigdel, et al.
Gepubliceerd in: (2012-09-01)

Risk factors and implications associated with ultrasound‐diagnosed nephrocalcinosis in cats with chronic kidney disease
door: Pak‐Kan Tang, et al.
Gepubliceerd in: (2024-05-01)

Correction to: Specific populations of urinary extracellular vesicles and proteins differentiate type 1 primary hyperoxaluria patients without and with nephrocalcinosis or kidney stones
door: Muthuvel Jayachandran, et al.
Gepubliceerd in: (2021-02-01)

Role of kidney stones in renal pelvis flow
door: Constante-Amores, CR, et al.
Gepubliceerd in: (2023)

HEREDITARY NEPHROLITHIASIS IS ASSOCIATED WITH MUTATIONS IN AN X-LINKED CHLORIDE CHANNEL GENE
door: Lloyd, S, et al.
Gepubliceerd in: (1995)

Role of the kidneys in acid-base regulation and ammonia excretion in freshwater and seawater fish: implications for nephrocalcinosis
door: Marius Takvam, et al.
Gepubliceerd in: (2023-06-01)

Renal tubular dysfunction with nephrocalcinosis in a patient with beta thalassemia minor
door: Prabahar Murugesan, et al.
Gepubliceerd in: (2008-01-01)

The Long Pentraxin PTX3 Is an Endogenous Inhibitor of Hyperoxaluria-Related Nephrocalcinosis and Chronic Kidney Disease
door: Julian A. Marschner, et al.
Gepubliceerd in: (2018-09-01)

Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease.
door: Devuyst, O, et al.
Gepubliceerd in: (1999)

Neonatal Nephrocalcinosis and Diagnostic Implications
door: Syed Kashif Abbas, et al.
Gepubliceerd in: (2017-09-01)

Mutations in the chloride channel gene (CLCN5) are associated with hypercalciuric rickets and nephrolithiasis.
door: Lloyd, SE, et al.
Gepubliceerd in: (1996)

[18F]-sodium fluoride autoradiography imaging of nephrocalcinosis in donor kidneys and explanted kidney allografts
door: Stan Benjamens, et al.
Gepubliceerd in: (2021-01-01)

Hypomagnesemia-hypercalciuria-nephrocalcinosis and ocular findings: a new claudin-19 mutation
door: Zelal Ekinci, et al.
Gepubliceerd in: (2012-04-01)