Pages that link to "Q34323123"
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The following pages link to Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance. (Q34323123):
Displaying 50 items.
- Dent Disease with mutations in OCRL1 (Q24530643) (← links)
- Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5) (Q24561788) (← links)
- ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells (Q24672098) (← links)
- Do kidney stone formers have a kidney disease? (Q26786273) (← links)
- Discovery of CLC transport proteins: cloning, structure, function and pathophysiology (Q28086820) (← links)
- Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations (Q28251050) (← links)
- Role of the ubiquitin system in regulating ion transport (Q28296575) (← links)
- Evaluation of urinary tract calculi in children (Q28360919) (← links)
- The voltage-dependent Cl(-) channel ClC-5 and plasma membrane Cl(-) conductances of mouse renal collecting duct cells (mIMCD-3). (Q30760886) (← links)
- Frequency of rare allelic variation in candidate genes among individuals with low and high urinary calcium excretion (Q31131894) (← links)
- Dent disease: Same CLCN5 mutation but different phenotypes in two brothers in China (Q33747875) (← links)
- Hypophosphatemic rickets due to Dent's disease: A case report and review of literature (Q33873956) (← links)
- Hereditary causes of kidney stones and chronic kidney disease (Q34066169) (← links)
- Distinct ion channel classes are expressed on the outer nuclear envelope of T- and B-lymphocyte cell lines (Q34173417) (← links)
- Dent's disease (Q34243602) (← links)
- ATP induces conformational changes in the carboxyl-terminal region of ClC-5 (Q34676012) (← links)
- Mouse Model for Lowe Syndrome/Dent Disease 2 Renal Tubulopathy (Q34695333) (← links)
- Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease (Q35066451) (← links)
- Dent-Wrong disease and other rare causes of the Fanconi syndrome (Q35227702) (← links)
- Clcn5 knockout mice exhibit novel immunomodulatory effects and are more susceptible to dextran sulfate sodium-induced colitis (Q35702593) (← links)
- Diet-dependent hypercalciuria in transgenic mice with reduced CLC5 chloride channel expression. (Q35736487) (← links)
- Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations (Q36062946) (← links)
- Chloride channel diseases resulting from impaired transepithelial transport or vesicular function (Q36216300) (← links)
- Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies (Q36740984) (← links)
- Genetic basis of renal cellular dysfunction and the formation of kidney stones (Q36763582) (← links)
- Pathophysiology of hypercalciuria in children. (Q36803922) (← links)
- Genetic causes of hypercalciuric nephrolithiasis (Q37150805) (← links)
- A patient with nephrotic-range proteinuria and focal global glomerulosclerosis (Q37280842) (← links)
- Physiological roles of CLC Cl(-)/H ( ) exchangers in renal proximal tubules (Q37293281) (← links)
- Dent's disease complicated by nephrotic syndrome: A case report (Q37425304) (← links)
- Genetic determinants of urolithiasis (Q37512167) (← links)
- Molecular mechanisms of receptor-mediated endocytosis in the renal proximal tubular epithelium. (Q37654819) (← links)
- ClC transporters: discoveries and challenges in defining the mechanisms underlying function and regulation of ClC-5. (Q37668096) (← links)
- Proteinuria and events beyond the slit (Q37668154) (← links)
- Dent’s disease: clinical features and molecular basis (Q37799321) (← links)
- ClC-5 mutations associated with Dent's disease: a major role of the dimer interface. (Q37956193) (← links)
- The long-term complications of the inherited tubulopathies: an adult perspective (Q38190864) (← links)
- Effect of growth hormone replacement therapy in a boy with Dent's disease: a case report (Q38541898) (← links)
- A pure chloride channel mutant of CLC-5 causes Dent's disease via insufficient V-ATPase activation (Q38780776) (← links)
- A case of adult Dent disease in Japan with advanced chronic kidney disease. (Q38783776) (← links)
- Proteinuria in Dent disease: a review of the literature (Q38984932) (← links)
- Tubular and genetic disorders associated with kidney stones (Q39023120) (← links)
- Functional coupling of V-ATPase and CLC-5. (Q39094332) (← links)
- The endocytic receptor megalin and its associated proteins in proximal tubule epithelial cells (Q39160284) (← links)
- ClC Channels and Transporters: Structure, Physiological Functions, and Implications in Human Chloride Channelopathies (Q39225398) (← links)
- Chloride channels and hypercalciuria: an unturned stone. (Q39779489) (← links)
- A young man presenting with recurrent nephrolithiasis (Q40328275) (← links)
- Functional coupling of chloride-proton exchanger ClC-5 to gastric H ,K -ATPase (Q41872254) (← links)
- Dent's disease and prevalence of renal stones in dialysis patients in Northeastern Italy (Q43976045) (← links)
- The first Sri Lankan family with Dent disease-1 due to a pathogenic variant in the CLCN5 gene: a case report. (Q44760499) (← links)