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