| 1 | AQP1, SLC4A11
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| Transmembrane water-flux through SLC4A11: a route defective in genetic corneal diseases.
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| Vilas GL, Loganathan SK, Liu J, Riau AK, Young JD, Mehta JS, Vithana EN, Casey JR.
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| Hum Mol Genet 22(22):4579-90. doi: 10.1093/hmg/ddt307. Epub 2013 Jun 27. 2013
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| 2 | SLC4A11
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| Ion transport function of SLC4A11 in corneal endothelium.
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| Jalimarada SS, Ogando DG, Vithana EN, Bonanno JA.
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| Invest Ophthalmol Vis Sci 54(6):4330-40. doi: 10.1167/iovs.13-11929.
2013
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| 3 | CHED2, SLC4A11
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| A novel nonsense mutation of the SLC4A11 gene in a Korean patient with autosomal recessive congenital hereditary endothelial dystrophy.
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| Park SH, Jeong HJ, Kim M, Kim MS.
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| Cornea 32(7):e181-2. doi: 10.1097/ICO.0b013e31828d9ffd. No abstract available.
2013
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| 4 | KTCN9, SLC4A11
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| Substitution at IL1RN and deletion at SLC4A11 segregating with phenotype in familial keratoconus.
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| Nowak DM, Karolak JA, Kubiak J, Gut M, Pitarque JA, Molinari A, Bejjani BA, Gajecka M.
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| Invest Ophthalmol Vis Sci 54(3):2207-15. doi: 10.1167/iovs.13-11592.
2013
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| 5 | CHED2, FECD4, SLC4A11
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| Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations.
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| Vilas GL, Loganathan SK, Quon A, Sundaresan P, Vithana EN, Casey J.
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| Hum Mutat 33(2):419-28. doi: 10.1002/humu.21655. Epub 2011 Dec 20.
2012
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| 6 | SLC4A11
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| Depletion of SLC4A11 causes cell death by apoptosis in an immortalized human corneal endothelial cell line.
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| Liu J, Seet LF, Koh LW, Venkatraman A, Venkataraman D, Mohan RR, Praetorius J, Bonanno JA, Aung T, Vithana EN.
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| Invest Ophthalmol Vis Sci 53(7):3270-9. doi: 10.1167/iovs.11-8724.
2012
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| 7 | CDPD1, CHED2, FECD4, SLC4A11
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| A biochemical framework for SLC4A11, the plasma membrane protein defective in corneal dystrophies.
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| Vilas GL, Morgan PE, Loganathan SK, Quon A, Casey JR.
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| Biochemistry 50(12):2157-69. Epub 2011 Feb 14.
2011
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| 8 | SLC4A11
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| SLC4A11 prevents osmotic imbalance leading to corneal endothelial dystrophy, deafness, and polyuria.
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| Gröger N, Fröhlich H, Maier H, Olbrich A, Kostin S, Braun T, Boettger T.
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| J Biol Chem 285(19):14467-74. Epub 2010 Feb 25.
2010
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| 9 | SLC4A11
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| Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia.
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| Aldahmesh MA, Khan AO, Meyer BF, Alkuraya FS.
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| Invest Ophthalmol Vis Sci. 50(9):4142-5. 2009
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| 10 | FECD4, SLC4A11
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| SLC4A11 mutations in Fuchs endothelial corneal dystrophy.
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| Vithana EN, Morgan PE, Ramprasad V, Tan DT, Yong VH, Venkataraman D, Venkatraman A, Yam GH, Nagasamy S, Law RW, Rajagopal R, Pang CP, Kumaramanickevel G, Casey JR, Aung T.
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| Hum Mol Genet 17(5):656-66. Epub 2007 Nov 16. 2008
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| 11 | CHED2, SLC4A11
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| Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy.
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| Hemadevi B, Veitia RA, Srinivasan M, Arunkumar J, Prajna NV, Lesaffre C, Sundaresan P.
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| Arch Ophthalmol 126(5):700-8.PMID: 18474783 2008
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| 12 | CDPD1,SLC4A11
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| Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.
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| Desir J, Moya G, Reish O, Van Regemorter N, Deconinck H, David KL, Meire FM, Abramowicz MJ.
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| J Med Genet 44(5):322-6. Epub 2007 Jan 12. 2007
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| 13 | SLC4A11, CHED2
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| Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).
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| Vithana EN, Morgan P, Sundaresan P, Ebenezer ND, Tan DT, Mohamed MD, Anand S, Khine KO, Venkataraman D, Yong VH, Salto-Tellez M, Venkatraman A, Guo K, Hemadevi B, Srinivasan M, Prajna V, Khine M, Casey JR, Inglehearn CF, Aung T.
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| Nat Genet 38(7):755-7. Epub 2006 Jun 11. 2006
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| 14 | SLC4A11
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| NaBC1 is a ubiquitous electrogenic Na+ -coupled borate transporter essential for cellular boron homeostasis and cell growth and proliferation.
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| Park M, Li Q, Shcheynikov N, Zeng W, Muallem S.
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| and cell growth and proliferation 16(3):331-41. 2004
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| 15 | SLC4A11, SLC4A9
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| Human BTR1, a new bicarbonate transporter superfamily member and human AE4 from kidney.
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| Parker MD, Ourmozdi EP, Tanner MJ.
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| Biochem Biophys Res Commun 282(5):1103-9. 2001
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