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Volumn 12, Issue 1, 1998, Pages 69-71

Two novel mutations of the gene for Kir 1.1 (ROMK) in neonatal Bartter syndrome

Author keywords

Bartter syndrome; Chloride channel; Potassium channel; Renal tubular ion transport; Sodium reabsorption

Indexed keywords


EID: 84912037651     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s004670050408     Document Type: Article
Times cited : (46)

References (13)
  • 2
    • 50849151835 scopus 로고
    • Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis
    • Bartter FC, Pronove P, Gill J, MacCredile R (1962) Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. Am J Med 33: 811-828.
    • (1962) Am J Med , vol.33 , pp. 811-828
    • Bartter, F.C.1    Pronove, P.2    Gill, J.3    Maccredile, R.4
  • 3
    • 0013976561 scopus 로고
    • A new family disorder characterized by hypokalemia and hypomagnesemia
    • Gitelman H, Graham J, Welt L (1966) A new family disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 79: 221-235.
    • (1966) Trans Assoc Am Physicians , vol.79 , pp. 221-235
    • Gitelman, H.1    Graham, J.2    Welt, L.3
  • 4
    • 0030029814 scopus 로고    scopus 로고
    • Bartter syndrome revisited
    • Schwarz I, Alon U (1996) Bartter syndrome revisited. J Nephrol 9: 81-87.
    • (1996) J Nephrol , vol.9 , pp. 81-87
    • Schwarz, I.1    Alon, U.2
  • 5
    • 0022251369 scopus 로고
    • Congenital hypokalemia with hypercalciuria in preterm infants: A hyperprostaglandinuric tubular syndrome different from Bartter's syndrome
    • Seyberth HW, Rascher W, Schweer H, Kuchl PC, Mehls O, Schaerer K (1985) Congenital hypokalemia with hypercalciuria in preterm infants: a hyperprostaglandinuric tubular syndrome different from Bartter's syndrome. J Pediatr 107: 694-701.
    • (1985) J Pediatr , vol.107 , pp. 694-701
    • Seyberth, H.W.1    Rascher, W.2    Schweer, H.3    Kuchl, P.C.4    Mehls, O.5    Schaerer, K.6
  • 6
    • 0030032699 scopus 로고    scopus 로고
    • Bartter's syndrome, hypokalemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2
    • Simon DB, Karet F, Hamdan J, DiPetro A, Sanjad S, Lifton R (1996) Bartter's syndrome, hypokalemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nature Genet 13: 183-188.
    • (1996) Nature Genet , vol.13 , pp. 183-188
    • Simon, D.B.1    Karet, F.2    Hamdan, J.3    Dipetro, A.4    Sanjad, S.5    Lifton, R.6
  • 9
    • 8044222737 scopus 로고    scopus 로고
    • Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: Evidence for genetic heterogeneity
    • The International Group for Bartter-Like Syndromes (1997) Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. Hum Mol Genet 6: 17-26.
    • (1997) Hum Mol Genet , vol.6 , pp. 17-26
  • 10
    • 0000723577 scopus 로고
    • Control of NaCl transport in the thick ascending limb
    • Hebert S, Andreoli T (1984) Control of NaCl transport in the thick ascending limb. Am J Physiol 246: F745-F756.
    • (1984) Am J Physiol , vol.246 , pp. F745-F756
    • Hebert, S.1    Andreoli, T.2
  • 12
    • 0028061201 scopus 로고
    • Cloning and characterization of multiple forms of the human kidney ROM-K potassium channel
    • Shuck M, Bock J, Benjamin C, Tsai TD, Lee K, Slighton J, Bienkowski M (1994) Cloning and characterization of multiple forms of the human kidney ROM-K potassium channel. J Biol Chem 269: 24261-24270.
    • (1994) J Biol Chem , vol.269 , pp. 24261-24270
    • Shuck, M.1    Bock, J.2    Benjamin, C.3    Tsai, T.D.4    Lee, K.5    Slighton, J.6    Bienkowski, M.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.