| 1 | CLCN5, NPHL1, NPHL2
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| Proton block of the CLC-5 Cl-/H+ exchanger.
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| Picollo A, Malvezzi M, Accardi A.
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| J Gen Physiol 135(6):653-9. 2010
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| 2 | CLCN5, NPHL1, NPHL2
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| Growth hormone improves growth rate and preserves renal function in Dent disease.
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| Sheffer-Babila S, Chandra M, Speiser PW.
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| J Pediatr Endocrinol Metab 21(3):279-86.
2008
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| 3 | CLCN5, NPHL1
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| CLCN5 mutation Ser244Leu is associated with X-linked renal failure without X-linked recessive hypophosphatemic rickets.
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| Kelleher CL, Buckalew VM, Frederickson ED, Rhodes DJ, Conner DA, Seidman JG, Seidman CE.
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| Kidney Int 53(1):31-7. 1998
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| 4 | CLCN5, NPHL1
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| CLCN5 chloride-channel mutations in six new North American families with X-linked nephrolithiasis.
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| Hoopes RR Jr, Hueber PA, Reid RJ Jr, Braden GL, Goodyer PR, Melnyk AR, Midgley JP, Moel DI, Neu AM, VanWhy SK, Scheinman SJ.
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| Kidney Int 54(3):698-705. 1998
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| 5 | CLCN5, NPHL2, NPHL1
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| Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.
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| Lloyd SE, Gunther W, Pearce SH, Thomson A, Bianchi ML, Bosio M, Craig IW, Fisher SE, Scheinman SJ, Wrong O, Jentsch TJ, Thakker RV.
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| Hum Mol Genet 6(8):1233-9. 1997
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| 6 | CLCN5, NPHL1
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| Mutations in the CLCN5 gene in Japanese patients with familial idiopathic low-molecular-weight proteinuria.
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| Nakazato H, Hattori S, Furuse A, Kawano T, Karashima S, Tsuruta M, Yoshimuta J, Endo F, Matsuda I.
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| Kidney Int 52(4):895-900. 1997
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| 7 | CLCN5, NPHL2, NPHL1
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| A common molecular basis for three inherited kidney stone diseases.
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| Lloyd SE, et al.
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| Nature 379 : 445-449. 1996
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| 8 | CLCN5, NPHL1
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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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| Fisher SE, van Bakel I, Lloyd SE, Pearce SH, Thakker RV, Craig IW.
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| Genomics 29(3):598-606. 1995
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| 9 | NPHL2, NPHL1
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| 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.
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| Wrong OM, et al.
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| Q J Med 87 : 473-493. 1994
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| 10 | NPHL1
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| Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.
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| Scheinman SJ, et al.
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| J Clin Invest 91 : 2351-2357. 1993
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