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Items: 1 to 20 of 158

1.

L450W and Q455K Col8a2 knock-in mouse models of Fuchs endothelial corneal dystrophy show distinct phenotypes and evidence for altered autophagy.

Meng H, Matthaei M, Ramanan N, Grebe R, Chakravarti S, Speck CL, Kimos M, Vij N, Eberhart CG, Jun AS.

Invest Ophthalmol Vis Sci. 2013 Mar 28;54(3):1887-97. doi: 10.1167/iovs.12-11021.

2.

An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis.

Jun AS, Meng H, Ramanan N, Matthaei M, Chakravarti S, Bonshek R, Black GC, Grebe R, Kimos M.

Hum Mol Genet. 2012 Jan 15;21(2):384-93. doi: 10.1093/hmg/ddr473. Epub 2011 Oct 14.

3.

Endothelial Cdkn1a (p21) overexpression and accelerated senescence in a mouse model of Fuchs endothelial corneal dystrophy.

Matthaei M, Meng H, Meeker AK, Eberhart CG, Jun AS.

Invest Ophthalmol Vis Sci. 2012 Sep 28;53(10):6718-27.

4.

Lithium treatment increases endothelial cell survival and autophagy in a mouse model of Fuchs endothelial corneal dystrophy.

Kim EC, Meng H, Jun AS.

Br J Ophthalmol. 2013 Aug;97(8):1068-73. doi: 10.1136/bjophthalmol-2012-302881. Epub 2013 Jun 12.

5.

Endothelial cell whole genome expression analysis in a mouse model of early-onset Fuchs' endothelial corneal dystrophy.

Matthaei M, Hu J, Meng H, Lackner EM, Eberhart CG, Qian J, Hao H, Jun AS.

Invest Ophthalmol Vis Sci. 2013 Mar 15;54(3):1931-40. doi: 10.1167/iovs.12-10898.

6.

N-Acetylcysteine increases corneal endothelial cell survival in a mouse model of Fuchs endothelial corneal dystrophy.

Kim EC, Meng H, Jun AS.

Exp Eye Res. 2014 Oct;127:20-5. doi: 10.1016/j.exer.2014.06.002. Epub 2014 Jun 18.

7.

Immunohistochemistry and electron microscopy of early-onset fuchs corneal dystrophy in three cases with the same L450W COL8A2 mutation.

Zhang C, Bell WR, Sundin OH, De La Cruz Z, Stark WJ, Green WR, Gottsch JD.

Trans Am Ophthalmol Soc. 2006;104:85-97.

8.

A cellular model for the investigation of Fuchs' endothelial corneal dystrophy.

Kelliher C, Chakravarti S, Vij N, Mazur S, Stahl PJ, Engler C, Matthaei M, Yu SM, Jun AS.

Exp Eye Res. 2011 Dec;93(6):880-8. doi: 10.1016/j.exer.2011.10.001. Epub 2011 Oct 18.

9.

Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy.

Gottsch JD, Sundin OH, Liu SH, Jun AS, Broman KW, Stark WJ, Vito EC, Narang AK, Thompson JM, Magovern M.

Invest Ophthalmol Vis Sci. 2005 Jun;46(6):1934-9.

PMID:
15914606
10.

Fuchs corneal dystrophy: aberrant collagen distribution in an L450W mutant of the COL8A2 gene.

Gottsch JD, Zhang C, Sundin OH, Bell WR, Stark WJ, Green WR.

Invest Ophthalmol Vis Sci. 2005 Dec;46(12):4504-11.

PMID:
16303941
11.

Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.

Biswas S, Munier FL, Yardley J, Hart-Holden N, Perveen R, Cousin P, Sutphin JE, Noble B, Batterbury M, Kielty C, Hackett A, Bonshek R, Ridgway A, McLeod D, Sheffield VC, Stone EM, Schorderet DF, Black GC.

Hum Mol Genet. 2001 Oct 1;10(21):2415-23.

PMID:
11689488
12.

Genome-wide linkage scan in fuchs endothelial corneal dystrophy.

Afshari NA, Li YJ, Pericak-Vance MA, Gregory S, Klintworth GK.

Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1093-7. doi: 10.1167/iovs.08-1839. Epub 2008 May 23.

13.

No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy.

Aldave AJ, Rayner SA, Salem AK, Yoo GL, Kim BT, Saeedian M, Sonmez B, Yellore VS.

Invest Ophthalmol Vis Sci. 2006 Sep;47(9):3787-90.

PMID:
16936088
14.

Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy.

Igo RP Jr, Kopplin LJ, Joseph P, Truitt B, Fondran J, Bardenstein D, Aldave AJ, Croasdale CR, Price MO, Rosenwasser M, Lass JH, Iyengar SK; FECD Genetics Multi-center Study Group.

PLoS One. 2012;7(10):e46742. doi: 10.1371/journal.pone.0046742. Epub 2012 Oct 23.

15.

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
16.

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.

17.

Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy.

Kobayashi A, Fujiki K, Murakami A, Kato T, Chen LZ, Onoe H, Nakayasu K, Sakurai M, Takahashi M, Sugiyama K, Kanai A.

Jpn J Ophthalmol. 2004 May-Jun;48(3):195-8.

PMID:
15175909
18.

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.

19.

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.

20.

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

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