A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans

Mutation update of transcription factor genes FOXE3 , HSF4 , MAF , and PITX3 causing cataracts and other developmental ocular defects

(2018) Deepti Anand et al.   HUMAN MUTATION

The RNA-binding protein Celf1 post-transcriptionally regulates p27Kip1 and Dnase2b to control fiber cell nuclear degradation in lens development

(2018) Archana D. Siddam et al.   PLoS Genetics

Systems biology of lens development: A paradigm for disease gene discovery in the eye

(2017) Deepti Anand et al.   EXPERIMENTAL EYE RESEARCH

iSyTE 2.0: a database for expression-based gene discovery in the eye

(2017) Atul Kakrana et al.   NUCLEIC ACIDS RESEARCH

Signaling and Gene Regulatory Networks in Mammalian Lens Development

(2017) Ales Cvekl et al.   TRENDS IN GENETICS

Genetic analysis of consanguineous families presenting with congenital ocular defects

(2016) Ehsan Ullah et al.   EXPERIMENTAL EYE RESEARCH

FOXE3 mutations predispose to thoracic aortic aneurysms and dissections

(2016) Shao-Qing Kuang et al.   JOURNAL OF CLINICAL INVESTIGATION

Exome sequencing reveals novel homozygous FOXE3 mutation in microphthalmos with staphylomatous malformation

(2016) Ujwala S. Saboo et al.   OPHTHALMIC GENETICS

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

(2016) Shahid Y. Khan et al.   Nature Communications

DLX4is associated with orofacial clefting and abnormal jaw development

(2015) Di Wu et al.   HUMAN MOLECULAR GENETICS

Functional Analysis of FOXE3 Mutations Causing Dominant and Recessive Ocular Anterior Segment Disease

(2015) Lily Islam et al.   HUMAN MUTATION

A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract

(2015) Mahdiyeh Behnam et al.   JOURNAL OF HUMAN GENETICS

Trimmomatic: a flexible trimmer for Illumina sequence data

(2014) Anthony M. Bolger et al.   BIOINFORMATICS

The genetic architecture of microphthalmia, anophthalmia and coloboma

(2014) Kathleen A. Williamson et al.   European Journal of Medical Genetics

A Streamlined CRISPR Pipeline to Reliably Generate Zebrafish Frameshifting Alleles

(2014) Jared Coffin Talbot et al.   Zebrafish

Susceptibility to glaucoma damage related to age and connective tissue mutations in mice

(2013) Matthew R. Steinhart et al.   EXPERIMENTAL EYE RESEARCH

Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes

(2013) Linda M. Reis et al.   HUMAN GENETICS

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

(2013) Mani Yahyavi et al.   HUMAN MOLECULAR GENETICS

A deletion in a cis element of Foxe3 causes cataracts and microphthalmia in rct mice

(2011) Kenta Wada et al.   MAMMALIAN GENOME

MIP/Aquaporin 0 Represents a Direct Transcriptional Target of PITX3 in the Developing Lens

(2011) Elena A. Sorokina et al.   PLoS One

Fibromodulin regulates collagen fibrillogenesis during peripheral corneal development

(2010) Shoujun Chen et al.   DEVELOPMENTAL DYNAMICS

A Male with Unilateral Microphthalmia Reveals a Role for TMX3 in Eye Development

(2010) Ryan Chao et al.   PLoS One

TopHat: discovering splice junctions with RNA-Seq

(2009) Cole Trapnell et al.   BIOINFORMATICS

Removal of Hsf4 leads to cataract development in mice through down-regulation of γS-crystallin and Bfsp expression

(2009) Xiaohe Shi et al.   BMC MOLECULAR BIOLOGY

Seeing clearly: the dominant and recessive nature ofFOXE3in eye developmental anomalies

(2009) Sibel Ugur Iseri et al.   HUMAN MUTATION

Tropomodulin1 is required for membrane skeleton organization and hexagonal geometry of fiber cells in the mouse lens

(2009) Roberta B. Nowak et al.   JOURNAL OF CELL BIOLOGY

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols

Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria

(2008) Barbara Kloeckener-Gruissem et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Regulation and function offoxe3 during early zebrafish development

(2008) Eric C. Swindell et al.   GENESIS

Persistent FoxE3 Expression Blocks Cytoskeletal Remodeling and Organelle Degradation during Lens Fiber Differentiation

(2008) H. Landgren et al.   INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE