1 | BSND1, SLC12A1
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| Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review.
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| Gross I, Siedner-Weintraub Y, Simckes A, Gillis D.
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| J Pediatr Endocrinol Metab 28(7-8):943-6. doi: 10.1515/jpem-2014-0188. Review.
2015
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2 | BSND1, SLC12A1
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| A highly conserved motif at the COOH terminus dictates endoplasmic reticulum exit and cell surface expression of NKCC2.
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| Zaarour N, Demaretz S, Defontaine N, Mordasini D, Laghmani K.
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| J Biol Chem 284(32):21752-64. Epub 2009 Jun 17.PMID: 19535327 2009
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3 | BSND1, SLC12A1
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| In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation.
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| Nozu K, Iijima K, Kawai K, Nozu Y, Nishida A, Takeshima Y, Fu XJ, Hashimura Y, Kaito H, Nakanishi K, Yoshikawa N, Matsuo M.
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| Hum Genet 126(4):533-8. Epub 2009 Jun 10.PMID: 19513753 2009
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4 | BSND1, SLC12A1
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| Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1.
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| Adachi M, Asakura Y, Sato Y, Tajima T, Nakajima T, Yamamoto T, Fujieda K.
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| Endocr J 54(6):1003-7. Epub 2007 Nov 12.PMID: 17998760 2007
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5 | BSND1, SLC12A1
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| Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters.
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| Starremans PG, Kersten FF, Knoers NV, van den Heuvel LP, Bindels RJ.
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| J Am Soc Nephrol 14(6):1419-26. 2003
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6 | BSND1, SLC12A1
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| Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.
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| Vargas-Poussou R, et al.
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| Am J Hum Genet 62 : 1332-1340. 1998
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7 | BSND1, SLC12A1
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| Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2CI cotransporter NKCC2.
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| Simon DB, et al.
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| Nat Genet 13 : 183-188. 1996
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8 | BSND1, BSND2, SLC12A1
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| Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK.
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| Simon DB, et al.
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| Nat Genet 14 : 152-156. 1996
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