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Items: 1 to 20 of 100

1.

A novel nonsense mutation of the SLC4A11 gene in a Korean patient with autosomal recessive congenital hereditary endothelial dystrophy.

Park SH, Jeong HJ, Kim M, Kim MS.

Cornea. 2013 Jul;32(7):e181-2. doi: 10.1097/ICO.0b013e31828d9ffd. No abstract available.

PMID:
23615275
2.
3.

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).

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.

Nat Genet. 2006 Jul;38(7):755-7. Epub 2006 Jun 11.

PMID:
16767101
4.

Two novel mutations including a large deletion of the SLC4A11 gene causing autosomal recessive hereditary endothelial dystrophy.

Puangsricharern V, Yeetong P, Charumalai C, Suphapeetiporn K, Shotelersuk V.

Br J Ophthalmol. 2014 Oct;98(10):1460-2. doi: 10.1136/bjophthalmol-2014-305584. Epub 2014 Aug 19. No abstract available.

PMID:
25138764
5.

Congenital hereditary endothelial dystrophy - mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort.

Paliwal P, Sharma A, Tandon R, Sharma N, Titiyal JS, Sen S, Nag TC, Vajpayee RB.

Mol Vis. 2010 Dec 31;16:2955-63.

6.

SLC4A11 mutations in Fuchs endothelial corneal dystrophy.

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.

Hum Mol Genet. 2008 Mar 1;17(5):656-66. Epub 2007 Nov 16.

7.

Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations.

Vilas GL, Loganathan SK, Quon A, Sundaresan P, Vithana EN, Casey J.

Hum Mutat. 2012 Feb;33(2):419-28. doi: 10.1002/humu.21655. Epub 2011 Dec 20.

PMID:
22072594
8.

Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy.

Soumittra N, Loganathan SK, Madhavan D, Ramprasad VL, Arokiasamy T, Sumathi S, Karthiyayini T, Rachapalli SR, Kumaramanickavel G, Casey JR, Rajagopal R.

J Hum Genet. 2014 Aug;59(8):444-53. doi: 10.1038/jhg.2014.55. Epub 2014 Jul 10.

PMID:
25007886
9.

Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India.

Hemadevi B, Srinivasan M, Arunkumar J, Prajna NV, Sundaresan P.

BMC Ophthalmol. 2010 Feb 10;10:3. doi: 10.1186/1471-2415-10-3.

10.

Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy.

Riazuddin SA, Vithana EN, Seet LF, Liu Y, Al-Saif A, Koh LW, Heng YM, Aung T, Meadows DN, Eghrari AO, Gottsch JD, Katsanis N.

Hum Mutat. 2010 Nov;31(11):1261-8. doi: 10.1002/humu.21356. Epub 2010 Oct 14.

11.

Genetic screen of African Americans with Fuchs endothelial corneal dystrophy.

Minear MA, Li YJ, Rimmler J, Balajonda E, Watson S, Allingham RR, Hauser MA, Klintworth GK, Afshari NA, Gregory SG.

Mol Vis. 2013 Dec 12;19:2508-16. eCollection 2013.

12.

Mutations in the Corneal Endothelial Dystrophy-Associated Gene SLC4A11 Render the Cells More Vulnerable to Oxidative Insults.

Roy S, Praneetha DC, Vendra VP.

Cornea. 2015 Jun;34(6):668-74. doi: 10.1097/ICO.0000000000000421.

PMID:
25811729
13.

Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy.

Sultana A, Garg P, Ramamurthy B, Vemuganti GK, Kannabiran C.

Mol Vis. 2007 Jul 26;13:1327-32.

PMID:
17679935
14.

Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients.

Mok JW, Kim HS, Joo CK.

Eye (Lond). 2009 Apr;23(4):895-903. doi: 10.1038/eye.2008.116. Epub 2008 May 9.

PMID:
18464802
15.

Association of ZEB1 and TCF4 rs613872 changes with late onset Fuchs endothelial corneal dystrophy in patients from northern India.

Gupta R, Kumawat BL, Paliwal P, Tandon R, Sharma N, Sen S, Kashyap S, Nag TC, Vajpayee RB, Sharma A.

Mol Vis. 2015 Oct 30;21:1252-60. eCollection 2015.

16.

Detailed assessment of renal function in a proband with Harboyan syndrome caused by a novel homozygous SLC4A11 nonsense mutation.

Liskova P, Dudakova L, Tesar V, Bednarova V, Kidorova J, Jirsova K, Davidson AE, Hardcastle AJ.

Ophthalmic Res. 2015;53(1):30-5. doi: 10.1159/000365109. Epub 2014 Dec 11.

PMID:
25500497
17.

Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.

Lechner J, Dash DP, Muszynska D, Hosseini M, Segev F, George S, Frazer DG, Moore JE, Kaye SB, Young T, Simpson DA, Churchill AJ, Héon E, Willoughby CE.

Invest Ophthalmol Vis Sci. 2013 May 3;54(5):3215-23. doi: 10.1167/iovs.13-11781.

PMID:
23599324
18.

Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.

Siddiqui S, Zenteno JC, Rice A, Chacón-Camacho O, Naylor SG, Rivera-de la Parra D, Spokes DM, James N, Toomes C, Inglehearn CF, Ali M.

Cornea. 2014 Mar;33(3):247-51. doi: 10.1097/ICO.0000000000000041.

19.

Loss of ion transporters and increased unfolded protein response in Fuchs' dystrophy.

Jalimarada SS, Ogando DG, Bonanno JA.

Mol Vis. 2014 Dec 12;20:1668-79. eCollection 2014.

20.

Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy.

Hemadevi B, Veitia RA, Srinivasan M, Arunkumar J, Prajna NV, Lesaffre C, Sundaresan P.

Arch Ophthalmol. 2008 May;126(5):700-8. doi: 10.1001/archopht.126.5.700.

PMID:
18474783
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