Citations for
1MRXSA, SLC9A6
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.
Masurel-Paulet A, Piton A, Chancenotte S, Redin C, Thauvin-Robinet C, Henrenger Y, Minot D, Creppy A, Ruffier-Bourdet M, Thevenon J, Kuentz P, Lehalle D, Curie A, Blanchard G, Ghosn E, Bonnet M, Archimbaud-Devilliers M, Huet F, Perret O, Philip N, Mandel JL, Faivre L.
Am J Med Genet A 170(8):2103-10. doi: 10.1002/ajmg.a.37765. Epub 2016 Jun 3. 2016
2MRXSA, SLC9A6
Novel SLC9A6 mutations in two families with Christianson syndrome.
Riess A, Rossier E, Krüger R, Dufke A, Beck-Woedl S, Horber V, Alber M, Gläser D, Riess O, Tzschach A.
Clin Genet 83(6):596-7. doi: 10.1111/j.1399-0004.2012.01948.x. Epub 2012 Aug 30. No abstract available. 2013
3MRXSA, SLC9A6
Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum.
Mignot C, Héron D, Bursztyn J, Momtchilova M, Mayer M, Whalen S, Legall A, Billette de Villemeur T, Burglen L.
Brain Dev 35(2):172-6. doi: 10.1016/j.braindev.2012.03.010. Epub 2012 Apr 26. 2013
4SLC9A6
Enhanced recruitment of endosomal Na+/H+ exchanger NHE6 into Dendritic spines of hippocampal pyramidal neurons during NMDA receptor-dependent long-term potentiation.
Deane EC, Ilie AE, Sizdahkhani S, Das Gupta M, Orlowski J, McKinney RA.
J Neurosci 33(2):595-610. doi: 10.1523/JNEUROSCI.2583-12.2013. 2013
5SLC9A1, SLC9A2, SLC9A3, SLC9A4, SLC9A5, SLC9A6, SLC9A7, SLC9C1
Role of the Na(+)/H(+) exchanger on the development of diabetes mellitus and its chronic complications.
Sun YM, Su Y, Li J, Tian Y, Wang LF.
Biochem Biophys Res Commun 427(2):229-31. doi: 10.1016/j.bbrc.2012.09.050. Epub 2012 Sep 18. Review. 2012
6MRXSA, SLC9A6
A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome.
Takahashi Y, Hosoki K, Matsushita M, Funatsuka M, Saito K, Kanazawa H, Goto Y, Saitoh S.
Am J Med Genet B Neuropsychiatr Genet 156B(7):799-807. doi: 10.1002/ajmg.b.31221. Epub 2011 Aug 2. 2011
7SLC9A6
Na+/H+ exchanger isoform 6 (NHE6/SLC9A6) is involved in clathrin-dependent endocytosis of transferrin.
Xinhan L, Matsushita M, Numaza M, Taguchi A, Mitsui K, Kanazawa H.
Am J Physiol Cell Physiol 301(6):C1431-44. doi: 10.1152/ajpcell.00154.2011. Epub 2011 Aug 31. 2011
8SLC9A6
X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction.
Strømme P, Dobrenis K, Sillitoe RV, Gulinello M, Ali NF, Davidson C, Micsenyi MC, Stephney G, Ellevog L, Klungland A, Walkley SU.
Brain 134(Pt 11):3369-83. doi: 10.1093/brain/awr250. Epub 2011 Sep 29. 2011
9SLC9A1, SLC9A6
High capacity Na+/H+ exchange activity in mineralizing osteoblasts.
Liu L, Schlesinger PH, Slack NM, Friedman PA, Blair HC.
J Cell Physiol 226(6):1702-12. doi: 10.1002/jcp.22501. 2011
10SLC9A6
The Na+/H+ exchanger NHE6 in the endosomal recycling system is involved in the development of apical bile canalicular surface domains in HepG2 cells.
Ohgaki R, Matsushita M, Kanazawa H, Ogihara S, Hoekstra D, van Ijzendoorn SC.
Mol Biol Cell 21(7):1293-304. doi: 10.1091/mbc.E09-09-0767. Epub 2010 Feb 3. 2010
11SLC9A6
Calcium dependent modification of distal C-terminal sequences of glycine transporter GlyT1.
Baliova M, Jursky F.
Neurochem Int 57(3):254-61. doi: 10.1016/j.neuint.2010.06.003. 2010
12AP1S2, BRWD3, CASK, CUL4B, MRX65, MRX96, SLC9A6, SYP, UPF3B, ZDHHC9, ZNF711
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M, Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE, Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA, Stratton MR.
Nat Genet 41(5):535-43. Epub 2009 Apr 19. 2009
13MRXSA, SLC9A6
Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome.
Fichou Y, Bahi-Buisson N, Nectoux J, Chelly J, Héron D, Cuisset L, Bienvenu T.
Eur J Hum Genet 17(11):1378-80. Epub 2009 May 27. No abstract available. PMID: 19471312 2009
14RACK1, SLC9A9, SLC9A7, SLC9A6
Cell surface levels of organellar Na+/H+ exchanger isoform 6 are regulated by interaction with RACK1.
Ohgaki R, Fukura N, Matsushita M, Mitsui K, Kanazawa H.
J Biol Chem 283(7):4417-29. Epub 2007 Dec 5. 2008
15SLC9A6, MRXSA
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sj¿holm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Str¿mme P.
Am J Hum Genet 82(4):1003-10. Epub 2008 Mar 13. 2008
16SLC9A6
Human Na(+)/H(+) exchanger isoform 6 is found in recycling endosomes of cells, not in mitochondria.
Brett CL, Wei Y, Donowitz M, Rao R.
Am J Physiol Cell Physiol 282(5):C1031-41. 2002
17SLC9A6
Identification of a mitochondrial Na+/H+ exchanger.
Numata M, et al.
J Biol Chem 273(12):6951-9 1998