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Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy. Hum Mutat (2010) 1.54

The divergence, actions, roles, and relatives of sodium-coupled bicarbonate transporters. Physiol Rev (2013) 1.50

THz Medical Imaging: in vivo Hydration Sensing. IEEE Trans Terahertz Sci Technol (2011) 1.35

Fuchs endothelial corneal dystrophy. Ocul Surf (2010) 1.33

Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy. PLoS One (2011) 1.30

Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process. Eur J Hum Genet (2012) 1.17

Transmembrane water-flux through SLC4A11: a route defective in genetic corneal diseases. Hum Mol Genet (2013) 1.09

The pathogenesis of keratoconus. Eye (Lond) (2013) 1.09

Molecular bases of corneal endothelial dystrophies. Exp Eye Res (2011) 1.07

Human phenotypically distinct TGFBI corneal dystrophies are linked to the stability of the fourth FAS1 domain of TGFBIp. J Biol Chem (2010) 1.02

Toward a better understanding of human eye disease insights from the zebrafish, Danio rerio. Prog Mol Biol Transl Sci (2011) 1.00

Differential expression and processing of transforming growth factor beta induced protein (TGFBIp) in the normal human cornea during postnatal development and aging. Exp Eye Res (2009) 0.98

Corneal stromal bioequivalents secreted on patterned silk substrates. Biomaterials (2014) 0.96

Plastic compressed collagen as a novel carrier for expanded human corneal endothelial cells for transplantation. PLoS One (2012) 0.95

SLC4A11 is an EIPA-sensitive Na(+) permeable pHi regulator. Am J Physiol Cell Physiol (2013) 0.95

Association and familial segregation of CTG18.1 trinucleotide repeat expansion of TCF4 gene in Fuchs' endothelial corneal dystrophy. Invest Ophthalmol Vis Sci (2014) 0.94

Corneal endothelium: developmental strategies for regeneration. Eye (Lond) (2013) 0.93

Quantitative trait loci associated with murine central corneal thickness. Physiol Genomics (2010) 0.93

Oxidative stress in the pathogenesis of keratoconus and Fuchs endothelial corneal dystrophy. Int J Mol Sci (2013) 0.92

Gene therapy in the cornea: 2005--present. Prog Retin Eye Res (2011) 0.92

Corneal endothelial expansion promoted by human bone marrow mesenchymal stem cell-derived conditioned medium. PLoS One (2013) 0.90

The TGFBI R555W mutation induces a new granular corneal dystrophy type I phenotype. Mol Vis (2011) 0.90

THz and mm-Wave Sensing of Corneal Tissue Water Content: Electromagnetic Modeling and Analysis. IEEE Trans Terahertz Sci Technol (2015) 0.90

Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature. Mol Vis (2013) 0.88

Molecular genetics of Chinese families with TGFBI corneal dystrophies. Mol Vis (2011) 0.88

Functional assessment of SLC4A11, an integral membrane protein mutated in corneal dystrophies. Am J Physiol Cell Physiol (2016) 0.87

Serine protease HtrA1 accumulates in corneal transforming growth factor beta induced protein (TGFBIp) amyloid deposits. Mol Vis (2013) 0.85

Regulation of corneal stroma extracellular matrix assembly. Exp Eye Res (2015) 0.84

Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome. Cornea (2014) 0.84

Mutation in transforming growth factor beta induced protein associated with granular corneal dystrophy type 1 reduces the proteolytic susceptibility through local structural stabilization. Biochim Biophys Acta (2013) 0.84

The prenyltransferase UBIAD1 is the target of geranylgeraniol in degradation of HMG CoA reductase. Elife (2015) 0.84

Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene. Proteomics Clin Appl (2014) 0.83

Proteomics of Fuchs' endothelial corneal dystrophy support that the extracellular matrix of Descemet's membrane is disordered. J Proteome Res (2014) 0.83

Capsid Mutated Adeno-Associated Virus Delivered to the Anterior Chamber Results in Efficient Transduction of Trabecular Meshwork in Mouse and Rat. PLoS One (2015) 0.82

TGFBI and CHST6 gene analysis in Chinese stromal corneal dystrophies. Int J Ophthalmol (2012) 0.81

Corneal topography analysis of stromal corneal dystrophies. Pak J Med Sci (2015) 0.80

TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies. Mol Vis (2010) 0.79

Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations. Mol Vis (2011) 0.79

Macular corneal dystrophy and associated corneal thinning. Eye (Lond) (2014) 0.79

Role of integrins in the periodontal ligament: organizers and facilitators. Periodontol 2000 (2013) 0.78

Polymorphism of the flap endonuclease 1 gene in keratoconus and Fuchs endothelial corneal dystrophy. Int J Mol Sci (2014) 0.78

Association of common variants in TCF4 and PTPRG with Fuchs' corneal dystrophy: a systematic review and meta-analysis. PLoS One (2014) 0.78

Postoperative visual acuity in patients with fuchs dystrophy undergoing descemet membrane-stripping automated endothelial keratoplasty: correlation with the severity of histologic changes. Arch Ophthalmol (2012) 0.78

Fuchs endothelial cornea dystrophy: a review of the genetics behind disease development. Semin Ophthalmol (2013) 0.77

Mutation Analysis of the TGFBI Gene in Consecutive Korean Patients With Corneal Dystrophies. Ann Lab Med (2015) 0.77

An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree. Mol Vis (2011) 0.77

Fibrillin-2, tenascin-C, matrilin-2, and matrilin-4 are strongly expressed in the epithelium of human granular and lattice type I corneal dystrophies. Mol Vis (2012) 0.77

Mitochondrial polymorphism A10398G and Haplogroup I are associated with Fuchs' endothelial corneal dystrophy. Invest Ophthalmol Vis Sci (2014) 0.77

Anterior segment alterations and comparative aqueous humor proteomics in the buphthalmic rabbit (an American Ophthalmological Society thesis). Trans Am Ophthalmol Soc (2011) 0.76

Loss of ion transporters and increased unfolded protein response in Fuchs' dystrophy. Mol Vis (2014) 0.76

TGFBI, CHST6, and GSN gene analysis in Mexican patients with stromal corneal dystrophies. Graefes Arch Clin Exp Ophthalmol (2014) 0.76

Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations. Mol Vis (2015) 0.76

Variation in DNA Base Excision Repair Genes in Fuchs Endothelial Corneal Dystrophy. Med Sci Monit (2015) 0.75

Ultrahigh-resolution OCT imaging of the human cornea. Biomed Opt Express (2017) 0.75

pH Induced Conformational Transitions in the Transforming Growth Factor β-Induced Protein (TGFβIp) Associated Corneal Dystrophy Mutants. Sci Rep (2016) 0.75

Bilateral granular dystrophy: A clinicopathogenetic correlation after alcohol assisted debridement with phototherapeutic keratectomy. Med J Armed Forces India (2012) 0.75

Fuchs Endothelial Corneal Dystrophy: Strong Association with rs613872 Not Paralleled by Changes in Corneal Endothelial TCF4 mRNA Level. Biomed Res Int (2015) 0.75

Atypical regressive corneal endothelial cysts in long-term confocal follow-up: a case report. Medicine (Baltimore) (2015) 0.75

Biomechanical relationships between the corneal endothelium and Descemet's membrane. Exp Eye Res (2016) 0.75

A Case of Transforming Growth Factor-β-Induced Gene-Related Oculorenal Syndrome: Granular Corneal Dystrophy Type II with a Unique Nephropathy. Case Rep Nephrol Dial (2016) 0.75

Mice, double deficient in lysosomal serine carboxypeptidases Scpep1 and Cathepsin A develop the hyperproliferative vesicular corneal dystrophy and hypertrophic skin thickenings. PLoS One (2017) 0.75

Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family. BMC Med Genet (2016) 0.75

New histopathologic and ultrastructural findings in Reis-Bücklers corneal dystrophy caused by the Arg124Leu mutation of TGFBI gene. BMC Ophthalmol (2016) 0.75

Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy. Hum Mol Genet (2016) 0.75

The zebrafish eye-a paradigm for investigating human ocular genetics. Eye (Lond) (2016) 0.75

TGFBI gene mutation analysis in a Chinese pedigree of Avellino corneal dystrophy. Int J Ophthalmol (2011) 0.75

Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy. Nat Commun (2017) 0.75

Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy. Int J Mol Med (2016) 0.75

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Vps35-deficiency impairs SLC4A11 trafficking and promotes corneal dystrophy. PLoS One (2017) 0.75

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Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet (1997) 4.43

The IC3D classification of the corneal dystrophies. Cornea (2008) 3.46

Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet (2001) 3.06

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VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet (2002) 2.49

SLC4A11 mutations in Fuchs endothelial corneal dystrophy. Hum Mol Genet (2007) 2.41

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). Nat Genet (2006) 2.20

Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. Am J Hum Genet (2005) 2.20

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A common locus for late-onset Fuchs corneal dystrophy maps to 18q21.2-q21.32. Invest Ophthalmol Vis Sci (2006) 1.81

Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. Nat Genet (1997) 1.75

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Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy. Invest Ophthalmol Vis Sci (2007) 1.43

Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy. J Med Genet (2007) 1.43

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