MAPPING OF 2 HEREDITARY RENAL TUBULAR DISORDERS ASSOCIATED WITH KIDNEY-STONES, AND REFERRED TO AS DENT-DISEASE AND X-LINKED RECESSIVE NEPHROLITHIASIS, TO CHROMOSOME-XP11

MAPPING OF 2 HEREDITARY RENAL TUBULAR DISORDERS ASSOCIATED WITH KIDNEY-STONES, AND REFERRED TO AS DENT-DISEASE AND X-LINKED RECESSIVE NEPHROLITHIASIS, TO CHROMOSOME-XP11

Sonraí bibleagrafaíochta
Príomhchruthaitheoirí:	Thakker, R, Pang, J, Wooding, C, Scheinman, S, Wrong, O, Pook, M
Formáid:	Journal article
Foilsithe / Cruthaithe:	1994

Míreanna comhchosúla

Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.
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LOCALIZATION OF THE GENE CAUSING X-LINKED RECESSIVE NEPHROLITHIASIS TO THE SHORT ARM OF THE X-CHROMOSOME (XP11.22)
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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)
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Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.
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HEREDITARY NEPHROLITHIASIS IS ASSOCIATED WITH MUTATIONS IN AN X-LINKED CHLORIDE CHANNEL GENE
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Tubular proteinuria defined by a study of Dent's (CLCN5 mutation) and other tubular diseases.
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Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis).
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Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis.
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Characterization of carrier females and affected males with X-linked recessive nephrolithiasis.
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Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.
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Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis).
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Dent's disease.
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CONSTRUCTION AND ANALYSIS OF LINKING LIBRARIES FROM CHROMOSOMES-11 AND XP
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Genetics of hypercalciuric nephrolithiasis: renal stone disease.
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CONSTRUCTION AND ANALYSIS OF LINKING LIBRARIES FROM CHROMOSOMES XP AND 11
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Mutations in the chloride channel gene (CLCN5) are associated with hypercalciuric rickets and nephrolithiasis.
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Characterization of novel promoter and enhancer elements of the mouse homologue of the Dent disease gene, CLCN5, implicated in X-linked hereditary nephrolithiasis.
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Clinical features of X-linked nephrolithiasis in childhood.
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Localization of the Tamm-Horsfall glycoprotein (uromodulin) gene to chromosome 16p12.3-16p13.11.
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EagI and NotI linking clones from human chromosomes 11 and Xp.
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Role of chromosome 11 in hereditary and sporadic pituitary tumourigenesis
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Dent's like proximal renal tubular disorder in a First Nations' kindred.
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Renal chloride channel, CLCN5, mutations in Dent's disease.
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Association of somatotrophinomas with loss of alleles on chromosome 11 and with gsp mutations.
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Dent's disease.
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Genetic mapping studies of the X-linked recessive hypoparathyroid gene on the X chromosome (Xq27).
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Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis.
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OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability.
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Genetic causes of hypercalciuric nephrolithiasis.
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Early Stone Manipulation in Urinary Tract Infection Associated with Obstructing Nephrolithiasis
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Clinical recognition of X-linked recessive nephrocalcinosis (XRN) in childhood.
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CHROMOSOME-11 ABNORMALITIES IN SOMATOTROPHINOMAS FROM PATIENTS WITH ACROMEGALY
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Low molecular weight ('tubular') proteinuria in patients with mutations of the CLCN5 renal chloride channel gene.
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Altered polarity and expression of H+-ATPase without ultrastructural changes in kidneys of Dent's disease patients.
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A Pst I restriction fragment length polymorphism near the MAO locus on Xp.
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Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients.
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Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome.
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