Accumulation of sequence variants in genes of Wnt signaling and focal adhesion pathways in human corneas further explains their involvement in keratoconus

The Prevalence and Risk Factors for Keratoconus

(2019) Hassan Hashemi et al.   CORNEA

Transcriptional profiling of corneal stromal cells derived from patients with keratoconus

(2019) Rabab Sharif et al.   Scientific Reports

PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus

(2019) Mariam Lofty Khaled et al.   Scientific Reports

Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent

(2018) Sionne E. M. Lucas et al.   PLoS One

RNA-Seq analysis and comparison of corneal epithelium in keratoconus and myopia patients

(2018) Jingjing You et al.   Scientific Reports

Collagen synthesis disruption and downregulation of core elements of TGF-β, Hippo and Wnt pathways in keratoconus corneas

(2017) Michal Kabza et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A new perspective on the genetics of keratoconus: why have we not been more successful?

(2017) Hanne Valgaeren et al.   OPHTHALMIC GENETICS

A review of keratoconus: Diagnosis, pathophysiology, and genetics

(2017) Veronica Mas Tur et al.   SURVEY OF OPHTHALMOLOGY

Evidence againstZNF469being causative for keratoconus in Polish patients

(2016) Justyna A. Karolak et al.   ACTA OPHTHALMOLOGICA

Variants in SKP1, PROB1 and IL17B genes at keratoconus 5q31.1–q35.3 susceptibility locus identified by whole-exome sequencing

(2016) Justyna A Karolak et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genomic strategies to understand causes of keratoconus

(2016) Justyna A. Karolak et al.   MOLECULAR GENETICS AND GENOMICS

Lamellar changes in the keratoconic cornea

(2015) Jessica H. Mathew et al.   ACTA OPHTHALMOLOGICA

Evaluation of Possible Relationship Between COL4A4 Gene Polymorphisms and Risk of Keratoconus

(2015) Ramin Saravani et al.   CORNEA

Wnt/β-catenin signaling modulates corneal epithelium stratification via inhibition of Bmp4 during mouse development

(2015) Yujin Zhang et al.   DEVELOPMENT

Polymorphism Analysis ofCOL4A3andCOL4A4Genes in Greek Patients with Keratoconus

(2014) Nikolaos S. Kokolakis et al.   OPHTHALMIC GENETICS

Linkage Analysis of High-density SNPs Confirms Keratoconus Locus at 5q Chromosomal Region

(2014) Yelena Bykhovskaya et al.   OPHTHALMIC GENETICS

Genetics of Keratoconus: Where Do We Stand?

(2014) Khaled K. Abu-Amero et al.   Journal of Ophthalmology

The Next-Generation Sequencing Revolution and Its Impact on Genomics

(2013) Daniel C. Koboldt et al.   CELL

Epidemiology of keratoconus

(2013) NikhilS Gokhale   INDIAN JOURNAL OF OPHTHALMOLOGY

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

(2013) Yi Lu et al.   NATURE GENETICS

Common Single Nucleotide Polymorphisms and Keratoconus in the Han Chinese Population

(2013) Yani Wang et al.   OPHTHALMIC GENETICS

Expression of SFRP Family Proteins in Human Keratoconus Corneas

(2013) Jingjing You et al.   PLoS One

Understanding keratoconus: what have we learned from the New Zealand perspective?

(2012) Dipika Patel et al.   Clinical and Experimental Optometry

Review

(2012) Yee Onn Kok et al.   CORNEA

Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness

(2012) René Hoehn et al.   HUMAN GENETICS

The ConsensusPathDB interaction database: 2013 update

(2012) Atanas Kamburov et al.   NUCLEIC ACIDS RESEARCH

Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes

(2011) Jill A. Rosenfeld et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries

(2011) Xiaohui Li et al.   HUMAN MOLECULAR GENETICS

Building a better understanding of the intracellular tyrosine kinase PTK6 — BRK by BRK

(2010) Patrick M. Brauer et al.   BIOCHIMICA ET BIOPHYSICA ACTA-REVIEWS ON CANCER

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Secreted frizzled-related protein 1 (SFRP1) is highly upregulated in keratoconus epithelium: a novel finding highlighting a new potential focus for keratoconus research and treatment

(2009) Gerard Sutton et al.   CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols