John D Gottsch

Professor

1984 …2019
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Research Output 1984 2019

2019
Open Access
Monoclonal Gammopathy of Undetermined Significance
Corneal Opacity
Paraproteinemias
Electrophoresis
Immunoglobulin G
2018

Comparative transcriptome analysis of hESC- and iPSC-derived corneal endothelial cells

Ali, M., Khan, S., Kabir, F., Gottsch, J. D. & Riazuddin, S. A., Nov 1 2018, In : Experimental Eye Research. 176, p. 252-257 6 p.

Research output: Contribution to journalArticle

Induced Pluripotent Stem Cells
Gene Expression Profiling
Endothelial Cells
Transcriptome
Blood Cells

Generation and proteome profiling of PBMC-originated, iPSC-derived corneal endothelial cells

Ali, M., Khan, S., Vasanth, S., Ahmed, M. R., Chen, R., Na, C-H., Thomson, J. J., Qiu, C., Gottsch, J. D. & Riazuddin, S. A., May 1 2018, In : Investigative Ophthalmology and Visual Science. 59, 6, p. 2437-2444 8 p.

Research output: Contribution to journalArticle

Induced Pluripotent Stem Cells
Proteome
Blood Cells
Endothelial Cells
Corneal Endothelium

Identification of a Novel TCF4 Isoform in the Human Corneal Endothelium

Eghrari, A., Vasanth, S., Gapsis, B. C., Bison, H., Jurkunas, U., Riazuddin, S. A. & Gottsch, J. D., Jul 1 2018, In : Cornea. 37, 7, p. 899-903 5 p.

Research output: Contribution to journalArticle

Corneal Endothelium
Protein Isoforms
Complementary DNA
Fuchs' Endothelial Dystrophy
RNA

Pilot Study of Audiometric Patterns in Fuchs Corneal Dystrophy

Reed, N., Deal, J. A., Huddle, M. G., Betz, J. F., Bailey, B. E., McGlumphy, E., Eghrari, A., Riazuddin, S. A., Lin, F. & Gottsch, J. D., Oct 26 2018, In : Journal of speech, language, and hearing research : JSLHR. 61, 10, p. 2604-2608 5 p.

Research output: Contribution to journalArticle

Fuchs' Endothelial Dystrophy
Hearing
Population Control
audiometry
Hearing Loss
2017

CTG18.1 expansion in TCF4 among African Americans with fuchs’ corneal dystrophy

Eghrari, A., Vahedi, S., Afshari, N. A., Riazuddin, S. A. & Gottsch, J. D., Dec 1 2017, In : Investigative Ophthalmology and Visual Science. 58, 14, p. 6046-6049 4 p.

Research output: Contribution to journalArticle

Fuchs' Endothelial Dystrophy
African Americans
Trinucleotide Repeats
Cataract
Linear Models

Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy

Afshari, N. A., Igo, R. P., Morris, N. J., Stambolian, D., Sharma, S., Pulagam, V. L., Dunn, S., Stamler, J. F., Truitt, B. J., Rimmler, J., Kuot, A., Croasdale, C. R., Qin, X., Burdon, K. P., Riazuddin, S. A., Mills, R., Klebe, S., Minear, M. A., Zhao, J., Balajonda, E. & 16 others, Rosenwasser, G. O., Baratz, K. H., Mootha, V. V., Patel, S. V., Gregory, S. G., Bailey-Wilson, J. E., Price, M. O., Price, F. W., Craig, J. E., Fingert, J. H., Gottsch, J. D., Aldave, A. J., Klintworth, G. K., Lass, J. H., Li, Y. J. & Iyengar, S. K., Mar 30 2017, In : Nature Communications. 8, 14898.

Research output: Contribution to journalArticle

Fuchs' Endothelial Dystrophy
genome
Genome-Wide Association Study
loci
Genes
2016

Automated Retroillumination Photography Analysis for Objective Assessment of Fuchs Corneal Dystrophy

Eghrari, A., Mumtaz, A. A., Garrett, B., Rezaei, M., Akhavan, M. S., Riazuddin, S. A. & Gottsch, J. D., Nov 2 2016, (Accepted/In press) In : Cornea.

Research output: Contribution to journalArticle

Fuchs' Endothelial Dystrophy
Photography
Cornea
Noise
Students

CTG18.1 Expansion in TCF4 Increases Likelihood of Transplantation in Fuchs Corneal Dystrophy

Eghrari, A., Vasanth, S., Wang, J., Vahedi, F., Riazuddin, S. A. & Gottsch, J. D., Oct 14 2016, (Accepted/In press) In : Cornea.

Research output: Contribution to journalArticle

Fuchs' Endothelial Dystrophy
Corneal Transplantation
Trinucleotide Repeats
Transplantation
Alleles
Corneal Edema
Phenotype
Collagen Type VIII
Descemet Stripping Endothelial Keratoplasty
Astigmatism

FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1

Khan, S., Vasanth, S., Kabir, F., Gottsch, J. D., Khan, A. O., Chaerkady, R., Lee, M. C. W., Leitch, C. C., Ma, Z., Laux, J., Villasmil, R., Khan, S. N., Riazuddin, S., Akram, J., Cole, R. N., Conover Talbot, C., Pourmand, N., Zaghloul, N. A., Fielding Hejtmancik, J. & Riazuddin, S. A., Apr 6 2016, In : Nature Communications. 7, 10953.

Research output: Contribution to journalArticle

Autophagy
Lenses
lenses
anomalies
proteins
2015

Expansion of CTG18.1 trinucleotide repeat in TCF4 is a potent driver of fuchs’ corneal dystrophy

Vasanth, S., Eghrari, A., Gapsis, B. C., Wang, J., Haller, N. F., Stark, W. J., Katsanis, N., Riazuddin, S. A. & Gottsch, J. D., 2015, In : Investigative Ophthalmology and Visual Science. 56, 8, p. 4531-4536 6 p.

Research output: Contribution to journalArticle

Fuchs' Endothelial Dystrophy
Trinucleotide Repeat Expansion
Alleles
Causality
Genotype

Fuchs Corneal Dystrophy

Eghrari, A., Riazuddin, S. A. & Gottsch, J. D., 2015, In : Progress in Molecular Biology and Translational Science. 134, p. 79-97 19 p.

Research output: Contribution to journalArticle

Fuchs' Endothelial Dystrophy
Descemet Membrane
Corneal Edema
Trinucleotide Repeats
Unfolded Protein Response
Descemet Membrane
Tight Junctions
Dehydration
Cornea
Endothelium

Retroillumination photography analysis enhances clinical definition of severe fuchs corneal dystrophy

Eghrari, A., Garrett, B. S., Mumtaz, A. A., Edalati, A. E., Meadows, D. N., McGlumphy, E., Iliff, B. W. & Gottsch, J. D., 2015, In : Cornea. 34, 12, p. 1623-1626 4 p.

Research output: Contribution to journalArticle

Fuchs' Endothelial Dystrophy
Photography
Linear Models
Nonparametric Statistics
Cornea
2013

Author reply.

Gottsch, J. D. & Schein, O. D., Mar 2013, In : Ophthalmology. 120, 3, p. 654 1 p.

Research output: Contribution to journalArticle

Equipment Contamination
Population Surveillance
Anterior Eye Segment
Anterior Uveitis
Cataract Extraction

Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4

Riazuddin, S. A., Vasanth, S., Katsanis, N. & Gottsch, J. D., Oct 3 2013, In : American Journal of Human Genetics. 93, 4, p. 758-764 7 p.

Research output: Contribution to journalArticle

Fuchs' Endothelial Dystrophy
Mutation
Proteins
Corneal Endothelium
Nonsense Codon

United States food and drug administration TASS program

Gottsch, J. D. & Schein, O. D., Mar 2013, In : Ophthalmology. 120, 3, p. 654 1 p.

Research output: Contribution to journalArticle

United States Food and Drug Administration
2012

A single-base substitution in the seed region of miR-184 causes EDICT syndrome

Iliff, B. W., Riazuddin, S. A. & Gottsch, J. D., Jan 2012, In : Investigative Ophthalmology and Visual Science. 53, 1, p. 348-353 6 p.

Research output: Contribution to journalArticle

MicroRNAs
Seeds
Phenotype
Iris
Base Pairing

Documenting the corneal phenotype associated with the MIR184 c.57C>T mtation

Iliff, B. W., Riazuddin, S. A. & Gottsch, J. D., May 4 2012, In : American Journal of Human Genetics. 90, 5, p. 934 1 p.

Research output: Contribution to journalArticle

Chromosomes, Human, Pair 15
Keratoconus
Genetic Linkage
Cataract
Phenotype

Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy

Riazuddin, S. A., Parker, D. S., McGlumphy, E., Oh, E. C., Iliff, B. W., Schmedt, T., Jurkunas, U., Schleif, R., Katsanis, N. & Gottsch, J. D., Mar 9 2012, In : American Journal of Human Genetics. 90, 3, p. 533-539 7 p.

Research output: Contribution to journalArticle

Fuchs' Endothelial Dystrophy
Deafness
Mutation
Cornea
Staining and Labeling

Prevalence and severity of fuchs corneal dystrophy in tangier island

Eghrari, A., McGlumphy, E., Iliff, B. W., Wang, J., Emmert, D., Riazuddin, S. A., Katsanis, N. & Gottsch, J. D., Jun 2012, In : American Journal of Ophthalmology. 153, 6, p. 1067-1072 6 p.

Research output: Contribution to journalArticle

Fuchs' Endothelial Dystrophy
Islands
Phenotype
Alleles
Photography

RE: Corneal thinning phenotypes-an alternative perspective

Iliff, B. W., Riazuddin, S. A. & Gottsch, J. D., Feb 2012, In : Investigative Ophthalmology and Visual Science. 53, 2, p. 1048-1049 2 p.

Research output: Contribution to journalArticle

Phenotype

Taking TASS to task

Gottsch, J. D. & Schein, O. D., Jul 2012, In : Ophthalmology. 119, 7, p. 1295-1296 2 p.

Research output: Contribution to journalArticle

Equipment Contamination
Population Surveillance
Anterior Eye Segment
Anterior Uveitis
Cataract Extraction

The genetics of Fuchs' corneal dystrophy

Iliff, B. W., Riazuddin, S. A. & Gottsch, J. D., Aug 2012, In : Expert Review of Ophthalmology. 7, 4, p. 363-375 13 p.

Research output: Contribution to journalArticle

Genes
Endothelial cells
Chromosomes
Membranes
Genetic Load
2011

Replication of tcf4 through association and linkage studies in late-onset fuchs endothelial corneal dystrophy

Li, Y. J., Minear, M. A., Rimmler, J., Zhao, B., Balajonda, E., Hauser, M. A., Allingham, R. R., Eghrari, A., Riazuddin, S. A., Katsanis, N., Gottsch, J. D., Gregory, S. G., Klintworth, G. K. & Afshari, N. A., 2011, In : PLoS One. 6, 4, e18044.

Research output: Contribution to journalArticle

Fuchs' Endothelial Dystrophy
linkage (genetics)
Chromosomes
Chromosomes, Human, Pair 18
Genes
Fuchs' Endothelial Dystrophy
Single Nucleotide Polymorphism
Exons
Alleles
Phenotype
2010

Age-severity relationships in families linked to FCD2 with retroillumination photography

McGlumphy, E., Yeo, W. S., Riazuddin, S. A., Al-Saif, A., Wang, J., Eghrari, A., Meadows, D. N., Emmert, D. G., Katsanis, N. & Gottsch, J. D., Dec 2010, In : Investigative Ophthalmology and Visual Science. 51, 12, p. 6298-6302 5 p.

Research output: Contribution to journalArticle

Photography
Fuchs' Endothelial Dystrophy
Phenotype
Haplotypes
Descemet Membrane

Cataract surgery in Fuchs corneal dystrophy

Eghrari, A., Daoud, Y. & Gottsch, J. D., Jan 2010, In : Current Opinion in Ophthalmology. 21, 1, p. 15-19 5 p.

Research output: Contribution to journalArticle

Fuchs' Endothelial Dystrophy
Cataract
Descemet Stripping Endothelial Keratoplasty
Corneal Transplantation
Intraocular Lenses

Fuchs corneal dystrophy

Eghrari, A. & Gottsch, J. D., Apr 2010, In : Expert Review of Ophthalmology. 5, 2, p. 147-159 13 p.

Research output: Contribution to journalArticle

Fuchs' Endothelial Dystrophy
Cornea
Descemet Membrane
Corneal Edema
Inborn Genetic Diseases

Genetics and mechanisms of hereditary corneal dystrophies

Gottsch, J. D., 2010, Ocular Disease: Mechanisms and Management. Elsevier Inc., p. 22-33 12 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Hereditary Corneal Dystrophies

Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p

Riazuddin, S. A., Zaghloul, N. A., Al-Saif, A., Davey, L., Diplas, B. H., Meadows, D. N., Eghrari, A., Minear, M. A., Li, Y. J., Klintworth, G. K., Afshari, N., Gregory, S. G., Gottsch, J. D. & Katsanis, N., 2010, In : American Journal of Human Genetics. 86, 1, p. 45-53 9 p.

Research output: Contribution to journalArticle

Fuchs' Endothelial Dystrophy
Missense Mutation
Chromosomes
Inborn Genetic Diseases
Alleles

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

Riazuddin, S. A., Vithana, E. N., Seet, L. F., Liu, Y., Al-Saif, A., Koh, L. W., Heng, Y. M., Aung, T., Meadows, D. N., Eghrari, A., Gottsch, J. D. & Katsanis, N., Nov 2010, In : Human Mutation. 31, 11, p. 1261-1268 8 p.

Research output: Contribution to journalArticle

Fuchs' Endothelial Dystrophy
Missense Mutation
Mutation
Borates
Mutant Proteins

Treatment With Voriconazole in 3 Eyes With Resistant Acanthamoeba Keratitis

Bang, S., Edell, E., Eghrari, A. & Gottsch, J. D., Jan 2010, In : American Journal of Ophthalmology. 149, 1, p. 66-69 4 p.

Research output: Contribution to journalArticle

Acanthamoeba Keratitis
Chlorhexidine
Acanthamoeba
Therapeutics
Voriconazole
2009

Linkage of a mild late-onset phenotype of fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2

Riazuddin, S. A., Eghrari, A., Al-Saif, A., Davey, L., Meadows, D. N., Katsanis, N. & Gottsch, J. D., Dec 2009, In : Investigative Ophthalmology and Visual Science. 50, 12, p. 5667-5671 5 p.

Research output: Contribution to journalArticle

Fuchs' Endothelial Dystrophy
Phenotype
Genome
Microsatellite Repeats
Disease Progression

Presoaking Donor Corneas Reduces Graft Detachment Rates in Descemet Stripping Endothelial Keratoplasty

Lee, J. K., Eghrari, A., Desai, N. R., Stark, W. J. & Gottsch, J. D., Mar 2009, In : American Journal of Ophthalmology. 147, 3

Research output: Contribution to journalArticle

Descemet Stripping Endothelial Keratoplasty
Cornea
Tissue Donors
Transplants
Salts

Progression of fuchs corneal dystrophy in a family linked to the FCD1 locus

Meadows, D. N., Eghrari, A., Riazuddin, S. A., Emmert, D. G., Katsanis, N. & Gottsch, J. D., Dec 2009, In : Investigative Ophthalmology and Visual Science. 50, 12, p. 5662-5666 5 p.

Research output: Contribution to journalArticle

Fuchs' Endothelial Dystrophy
Photography
Haplotypes
Disease Progression
Corneal Diseases

Reply

Lee, J. K., Stark, W. J. & Gottsch, J. D., Sep 2009, In : American Journal of Ophthalmology. 148, 3, p. 472-473 2 p.

Research output: Contribution to journalArticle

Reply

Lee, J. K., Stark, W. J. & Gottsch, J. D., Sep 2009, In : American Journal of Ophthalmology. 148, 3, p. 471-472 2 p.

Research output: Contribution to journalArticle

Secondary angle closure caused by air migrating behind the pupil in descemet stripping endothelial keratoplasty

Lee, J. S., Desai, N. R., Schmidt, G. W., Jun, A., Schein, O. D., Stark, W. J., Eghrari, A. & Gottsch, J. D., Jul 2009, In : Cornea. 28, 6, p. 652-656 5 p.

Research output: Contribution to journalArticle

Descemet Stripping Endothelial Keratoplasty
Pupil
Intraocular Pressure
Iris
Air
2006

A common locus for late-onset Fuchs corneal dystrophy maps to 18q21.2-q21.32

Sundin, O. H., Broman, K. W., Chang, H. H., Vito, E. C. L., Stark, W. J. & Gottsch, J. D., Sep 2006, In : Investigative Ophthalmology and Visual Science. 47, 9, p. 3919-3926 8 p.

Research output: Contribution to journalArticle

Fuchs' Endothelial Dystrophy
Lod Score
Genetic Loci
Penetrance
Haplotypes

Analysis and documentation of progression of Fuchs corneal dystrophy with retroillumination photography

Gottsch, J. D., Sundin, O. H., Rencs, E. V., Emmert, D. G., Stark, W. J., Cheng, C. J. & Schmidt, G. W., May 2006, In : Cornea. 25, 4, p. 485-489 5 p.

Research output: Contribution to journalArticle

Fuchs' Endothelial Dystrophy
Photography
Documentation
Disease Progression
Descemet Membrane

Author reply [7]

Seitzman, G., Gottsch, J. D. & Stark, W., Mar 2006, In : Ophthalmology. 113, 3, p. 504 1 p.

Research output: Contribution to journalArticle

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

Zhang, C., Bell, W. R., Sundin, O. H., De La Cruz, Z., Stark, W. J., Green, W. R. & Gottsch, J. D., 2006, In : Transactions of the American Ophthalmological Society. 104, p. 85-95 11 p.

Research output: Contribution to journalArticle

Fuchs' Endothelial Dystrophy
Descemet Membrane
Electron Microscopy
Immunohistochemistry
Endothelium

Linkage of late-onset fuchs corneal dystrophy to a novel locus at 13pTel-13q12.13

Sundin, O. H., Jun, A., Broman, K. W., Liu, S. H., Sheehan, S. E., Vito, E. C. L., Stark, W. J. & Gottsch, J. D., Jan 2006, In : Investigative Ophthalmology and Visual Science. 47, 1, p. 140-145 6 p.

Research output: Contribution to journalArticle

Fuchs' Endothelial Dystrophy
Mutation
Parents
Genotype
Consanguinity

Peer discussion

Mcculley, J., Krachmer, J., Troutman, R. C. & Gottsch, J. D., 2006, In : Transactions of the American Ophthalmological Society. 104, p. 96-97 2 p.

Research output: Contribution to journalArticle

2005

A morphologic study of Fuchs dystrophy and bullous keratopathy

Yuen, H. K. L., Rassier, C. E., Jardeleza, M. S. R., Green, W. R., De La Cruz, Z., Stark, W. J. & Gottsch, J. D., Apr 2005, In : Cornea. 24, 3, p. 319-327 9 p.

Research output: Contribution to journalArticle

Fuchs' Endothelial Dystrophy
Cornea
Lipids
Corneal Keratocytes
Corneal Stroma

Cataract surgery and Fuchs' corneal dystrophy [3] (multiple letters)

Luo, Y. H. L., Wong, R., Seitzman, G., Gottsch, J. D. & Stark, W., Nov 2005, In : Ophthalmology. 112, 11, p. 2054-2055 2 p.

Research output: Contribution to journalArticle

Corneal Topography
Penetrating Keratoplasty
Intraocular Lens Implantation
Phacoemulsification
Cataract

Cataract surgery in patients with Fuchs' corneal dystrophy: Expanding recommendations for cataract surgery without simultaneous keratoplasty

Seitzman, G. D., Gottsch, J. D. & Stark, W. J., Mar 2005, In : Ophthalmology. 112, 3, p. 441-446 6 p.

Research output: Contribution to journalArticle

Corneal Transplantation
Cataract
Penetrating Keratoplasty
Visual Acuity
Corneal Pachymetry

Fuchs corneal dystrophy: Aberrant collagen distribution in an L450W Mutant of the COL8A2 gene

Gottsch, J. D., Zhang, C., Sundin, O. H., Bell, W. R., Stark, W. J. & Green, W. R., Dec 2005, In : Investigative Ophthalmology and Visual Science. 46, 12, p. 4504-4511 8 p.

Research output: Contribution to journalArticle

Fuchs' Endothelial Dystrophy
Descemet Membrane
Collagen
Cornea
Genes