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

Cornea Preservation Time Study

(2015) Jonathan H. Lass et al.   CORNEA

RNA Toxicity and Missplicing in the Common Eye Disease Fuchs Endothelial Corneal Dystrophy

(2015) Jintang Du et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

(2015) Heon Yung Gee et al.   JOURNAL OF CLINICAL INVESTIGATION

The L1TD1 Protein Interactome Reveals the Importance of Post-transcriptional Regulation in Human Pluripotency

(2015) Maheswara Reddy Emani et al.   Stem Cell Reports

Proteomics of Fuchs’ Endothelial Corneal Dystrophy Support That the Extracellular Matrix of Descemet’s Membrane Is Disordered

(2014) Ebbe Toftgaard Poulsen et al.   JOURNAL OF PROTEOME RESEARCH

Mutation inTMEM98in a Large White Kindred With Autosomal Dominant Nanophthalmos Linked to 17p12-q12

(2014) Mona S. Awadalla et al.   JAMA Ophthalmology

Mutations in AGBL1 Cause Dominant Late-Onset Fuchs Corneal Dystrophy and Alter Protein-Protein Interaction with TCF4

(2013) S. Amer Riazuddin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error

(2013) Dwight Stambolian et al.   HUMAN MOLECULAR GENETICS

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

The Bi-Functional Organization of Human Basement Membranes

(2013) Willi Halfter et al.   PLoS One

Mutations in LOXHD1, a Recessive-Deafness Locus, Cause Dominant Late-Onset Fuchs Corneal Dystrophy

(2012) S. Amer Riazuddin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic Investigation into the Endophenotypic Status of Central Corneal Thickness and Optic Disc Parameters in Relation to Open-Angle Glaucoma

(2012) David P. Dimasi et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

NBP, a zebrafish homolog of human Kank3, is a novel Numb interactor essential for epidermal integrity and neurulation

(2012) Barbara Boggetti et al.   DEVELOPMENTAL BIOLOGY

Association of TCF4 and CLU polymorphisms with Fuchs’ endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process

(2012) Abraham Kuot et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Detectable clonal mosaicism from birth to old age and its relationship to cancer

(2012) Cathy C Laurie et al.   NATURE GENETICS

Improved whole-chromosome phasing for disease and population genetic studies

(2012) Olivier Delaneau et al.   NATURE METHODS

Confirmation of the association between theTCF4risk allele and Fuchs endothelial corneal dystrophy in patients from the Midwestern United States

(2012) John F. Stamler et al.   OPHTHALMIC GENETICS

A Common Trinucleotide Repeat Expansion within the Transcription Factor 4 (TCF4, E2-2) Gene Predicts Fuchs Corneal Dystrophy

(2012) Eric D. Wieben et al.   PLoS One

Differing Roles for TCF4 and COL8A2 in Central Corneal Thickness and Fuchs Endothelial Corneal Dystrophy

(2012) Robert P. Igo et al.   PLoS One

A Multicenter Study to Map Genes for Fuchs Endothelial Corneal Dystrophy: Baseline Characteristics and Heritability

(2011) Megan D Louttit et al.   CORNEA

Genetic risk prediction in complex disease

(2011) Luke Jostins et al.   HUMAN MOLECULAR GENETICS

N-mycDownstream-regulated Gene 2, a Novel Estrogen-targeted Gene, Is Involved in the Regulation of Na+/K+-ATPase

(2011) Yan Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants

(2011) L. D. Ward et al.   NUCLEIC ACIDS RESEARCH

Replication of TCF4 through Association and Linkage Studies in Late-Onset Fuchs Endothelial Corneal Dystrophy

(2011) Yi-Ju Li et al.   PLoS One

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

(2010) S. Amer Riazuddin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Meta-analysis of sex-specific genome-wide association studies

(2010) Reedik Magi et al.   GENETIC EPIDEMIOLOGY

E2-2 Protein and Fuchs's Corneal Dystrophy

(2010) Keith H. Baratz et al.   NEW ENGLAND JOURNAL OF MEDICINE

Kank proteins: structure, functions and diseases

(2009) N. Kakinuma et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Identification of LOXL1 protein and Apolipoprotein E as components of surgically isolated pseudoexfoliation material by direct mass spectrometry

(2009) Shiwani Sharma et al.   EXPERIMENTAL EYE RESEARCH

Corneal dystrophies

(2009) Gordon K Klintworth   Orphanet Journal of Rare Diseases

A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

(2009) Bryan N. Howie et al.   PLoS Genetics

A Unified Association Analysis Approach for Family and Unrelated Samples Correcting for Stratification

(2008) Xiaofeng Zhu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Lack of Laminin γ1 in Embryonic Stem Cell-Derived Cardiomyocytes Causes Inhomogeneous Electrical Spreading Despite Intact Differentiation and Function

(2008) Daniela Malan et al.   STEM CELLS