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Journal of cell science, ISSN 1477-9137, 2017, Volume 130, Issue 20, pp. 3447 - 3454
Lowe syndrome is a rare X-linked disorder characterized by bilateral congenital cataracts and glaucoma, mental retardation, and proximal renal tubular dysfunction... 
Lowe syndrome | Sonic hedgehog | Phosphoinositide | OCRL | Primary cilia | PI(4,5)P | MEMBRANE | PHOSPHATASE | PI(4,5)P-2 | RAB35 GTPASE | TRAFFICKING | PRIMARY CILIUM | PHOSPHOINOSITIDES | CELL BIOLOGY | INPP5B | SYNDROME PROTEIN OCRL1 | TRANSITION ZONE | INOSITOL POLYPHOSPHATE 5-PHOSPHATASE
Journal Article
American journal of physiology. Renal physiology, ISSN 1522-1466, 2013, Volume 304, Issue 8, pp. F1037 - F1042
.... The focus of this review is secondary NDI associated with inherited human diseases, such as Bartter syndrome or apparent... 
Bartter syndrome | Cystinosis | Hypercalciuria | Nephronophthisis | Nephrogenic diabetes insipidus | Renal fanconi syndrome | Apparent mineralocorticoid excess | Hypo-kalemia | cystinosis | PHYSIOLOGY | LOWE-SYNDROME | nephronophthisis | POLYCYSTIC KIDNEY-DISEASE | WATER CHANNEL EXPRESSION | 11-BETA-HYDROXYSTEROID DEHYDROGENASE | hypokalemia | ARC SYNDROME | apparent mineralocorticoid excess | renal Fanconi syndrome | VASOPRESSIN | UROLOGY & NEPHROLOGY | hypercalciuria | RENAL TUBULAR-ACIDOSIS | BARDET-BIEDL SYNDROME | FAMILIAL HYPOCALCIURIC HYPERCALCEMIA | nephrogenic diabetes insipidus | CA2+-SENSING RECEPTOR | Bartter Syndrome - metabolism | Diabetes Insipidus, Nephrogenic - physiopathology | Aquaporin 2 - deficiency | Humans | Hypercalciuria - physiopathology | Receptors, Vasopressin - deficiency | Fanconi Syndrome - metabolism | Bartter Syndrome - genetics | Fanconi Syndrome - physiopathology | Hypercalciuria - metabolism | Diabetes Insipidus, Nephrogenic - genetics | Hypokalemia - metabolism | Receptors, Vasopressin - genetics | Hypercalciuria - genetics | Bartter Syndrome - physiopathology | Fanconi Syndrome - genetics | Aquaporin 2 - genetics | Hypokalemia - genetics | Hypokalemia - physiopathology | Diabetes Insipidus, Nephrogenic - metabolism | Epigenetic inheritance | Kidneys | Physiological aspects | Genetic aspects | Diabetes | Research | Health aspects
Journal Article
Journal of the American Society of Nephrology, ISSN 1046-6673, 05/2017, Volume 28, Issue 5, pp. 1399 - 1407
Journal Article
The New England journal of medicine, ISSN 1533-4406, 2014, Volume 370, Issue 2, pp. 129 - 138
Journal Article