An update on the genetics of ocular coloboma

The cellular bases of choroid fissure formation and closure

(2018) Cassidy S. Bernstein et al.   DEVELOPMENTAL BIOLOGY

Surgical technique for management of isolated lenticular coloboma with high corneal astigmatism

(2018) Jagat Ram et al.   INDIAN JOURNAL OF OPHTHALMOLOGY

TGFβ-facilitated optic fissure fusion and the role of bone morphogenetic protein antagonism

(2018) Max D. Knickmeyer et al.   Open Biology

Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye

(2018) Jennifer C. Hocking et al.   PLoS Genetics

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma

(2017) Joe Rainger et al.   HUMAN MUTATION

The Transcription Factor Foxg1 Promotes Optic Fissure Closure in the Mouse by Suppressing Wnt8b in the Nasal Optic Stalk

(2017) Rowena Smith et al.   JOURNAL OF NEUROSCIENCE

Concerted action of neuroepithelial basal shrinkage and active epithelial migration ensures efficient optic cup morphogenesis

(2017) Jaydeep Sidhaye et al.   eLife

New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders

(2017) R. Holt et al.   Scientific Reports

Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness

(2016) Aman George et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Proper closure of the optic fissure requires ephrin A5-EphB2-JNK signaling

(2016) Hyuna Noh et al.   DEVELOPMENT

Emergence of dorsal-ventral polarity in ESC-derived retinal tissue

(2016) Yuiko Hasegawa et al.   DEVELOPMENT

The hyaloid vasculature facilitates basement membrane breakdown during choroid fissure closure in the zebrafish eye

(2016) Andrea James et al.   DEVELOPMENTAL BIOLOGY

A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma

(2016) Chunqiao Liu et al.   HUMAN MOLECULAR GENETICS

Novel heterozygous mutation in YAP1 in a family with isolated ocular colobomas

(2016) Julius T. Oatts et al.   OPHTHALMIC GENETICS

Vitamin A deficiency due to bi-allelic mutation of RBP4: There’s more to it than meets the eye

(2016) Kamron N. Khan et al.   OPHTHALMIC GENETICS

The Hippo pathway member YAP enhances human neural crest cell fate and migration

(2016) Christopher J. Hindley et al.   Scientific Reports

Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease

(2015) Christopher M. Chou et al.   CELL

Yap and Taz regulate retinal pigment epithelial cell fate

(2015) J. B. Miesfeld et al.   DEVELOPMENT

Sox4 regulates choroid fissure closure by limiting Hedgehog signaling during ocular morphogenesis

(2015) Wen Wen et al.   DEVELOPMENTAL BIOLOGY

YAP is essential for tissue tension to ensure vertebrate 3D body shape

(2015) Sean Porazinski et al.   NATURE

Congenital Upper Eyelid Coloboma

(2015) Hatem A. Tawfik et al.   OPHTHALMIC PLASTIC AND RECONSTRUCTIVE SURGERY

Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts

(2015) Brett Deml et al.   PLoS Genetics

Eye morphogenesis driven by epithelial flow into the optic cup facilitated by modulation of bone morphogenetic protein

(2015) Stephan Heermann et al.   eLife

Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations

(2014) Joe Rainger et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects

(2014) Kathleen A. Williamson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

All-trans-retinoic acid antagonizes the hedgehog pathway by inducing patched

(2014) Alexander M Busch et al.   CANCER BIOLOGY & THERAPY

Sfrp1a and Sfrp5 function as positive regulators of Wnt and BMP signaling during early retinal development

(2014) Vanessa L. Holly et al.   DEVELOPMENTAL BIOLOGY

Mutation of SALL2 causes recessive ocular coloboma in humans and mice

(2014) D. Kelberman et al.   HUMAN MOLECULAR GENETICS

Inappropriate p53 activation during development induces features of CHARGE syndrome

(2014) Jeanine L. Van Nostrand et al.   NATURE

aldh7a1 Regulates Eye and Limb Development in Zebrafish

(2014) Holly E. Babcock et al.   PLoS One

Sox11 Is Required to Maintain Proper Levels of Hedgehog Signaling during Vertebrate Ocular Morphogenesis

(2014) Lakshmi Pillai-Kastoori et al.   PLoS Genetics

ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia

(2013) Lucas Fares-Taie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deficient FGF signaling causes optic nerve dysgenesis and ocular coloboma

(2013) Zhigang Cai et al.   DEVELOPMENT

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

Bcl6a function is required during optic cup formation to prevent p53-dependent apoptosis and colobomata

(2013) Jiwoon Lee et al.   HUMAN MOLECULAR GENETICS

Sma- and Mad-related Protein 7 (Smad7) Is Required for Embryonic Eye Development in the Mouse

(2013) Rui Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Canonical Wnt/β-Catenin Signalling Is Essential for Optic Cup Formation

(2013) Anna-Carin Hägglund et al.   PLoS One

A Large Novel Deletion Downstream of PAX6 Gene in a Chinese Family with Ocular Coloboma

(2013) Hong Guo et al.   PLoS One

ABCB6 Mutations Cause Ocular Coloboma

(2012) Lejing Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Defective FGF signaling causes coloboma formation and disrupts retinal neurogenesis

(2012) Shuyi Chen et al.   CELL RESEARCH

Abnormal vasculature interferes with optic fissure closure in lmo2 mutant zebrafish embryos

(2012) Omri Weiss et al.   DEVELOPMENTAL BIOLOGY

Pax2 regulates a fadd-dependent molecular switch that drives tissue fusion during eye development

(2012) Ishaq A. Viringipurampeer et al.   HUMAN MOLECULAR GENETICS

Mutation update on the CHD7 gene involved in CHARGE syndrome

(2012) Nicole Janssen et al.   HUMAN MUTATION

Cadherin-Mediated Cell Adhesion Is Critical for the Closing of the Mouse Optic Fissure

(2012) Shuyi Chen et al.   PLoS One

Exome Analysis Identified a Novel Mutation in the RBP4 Gene in a Consanguineous Pedigree with Retinal Dystrophy and Developmental Abnormalities

(2012) Catherine Cukras et al.   PLoS One

Vsx2 Controls Eye Organogenesis and Retinal Progenitor Identity Via Homeodomain and Non-Homeodomain Residues Required for High Affinity DNA Binding

(2012) Changjiang Zou et al.   PLoS Genetics

The Dkk1 dose is critical for eye development

(2011) Oliver Lieven et al.   DEVELOPMENTAL BIOLOGY

Renal coloboma syndrome

(2011) Lisa A Schimmenti   EUROPEAN JOURNAL OF HUMAN GENETICS

A complex regulatory network of transcription factors critical for ocular development and disease

(2011) Moulinath Acharya et al.   HUMAN MOLECULAR GENETICS

First implication ofSTRA6mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to theSTRA6phenotype

(2011) Jillian Casey et al.   HUMAN MUTATION

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

(2011) Matthew Bower et al.   HUMAN MUTATION

Self-organizing optic-cup morphogenesis in three-dimensional culture

(2011) Mototsugu Eiraku et al.   NATURE

Retinoic acid receptor signaling regulates choroid fissure closure through independent mechanisms in the ventral optic cup and periocular mesenchyme

(2011) G. Lupo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies

(2010) Alexander W. Wyatt et al.   HUMAN MUTATION

yap is required for the development of brain, eyes, and neural crest in zebrafish

(2009) Qiu Jiang et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Lmx1b is essential for survival of periocular mesenchymal cells and influences Fgf-mediated retinal patterning in zebrafish

(2009) Carrie McMahon et al.   DEVELOPMENTAL BIOLOGY

Ocular abnormalities in mice lacking the immunoglobulin superfamily member Cdo

(2009) Wei Zhang et al.   FEBS Journal

Sonic hedgehog is involved in formation of the ventral optic cup by limiting Bmp4 expression to the dorsal domain

(2009) Lanying Zhao et al.   MECHANISMS OF DEVELOPMENT

Expression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closure

(2009) J. D. Brown et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways

(2008) Preeti Bakrania et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An essential role for frizzled 5 in mammalian ocular development

(2008) C. Liu et al.   DEVELOPMENT

The temporal requirement for vitamin A in the developing eye: Mechanism of action in optic fissure closure and new roles for the vitamin in regulating cell proliferation and adhesion in the embryonic retina

(2008) Angela Wai-Man See et al.   DEVELOPMENTAL BIOLOGY

Investigation of Frizzled-5 during embryonic neural development in mouse

(2008) Carole J. Burns et al.   DEVELOPMENTAL DYNAMICS

Ocular coloboma and dorsoventral neuroretinal patterning defects in Lrp6 mutant eyes

(2008) Cheng-Ji Zhou et al.   DEVELOPMENTAL DYNAMICS

Anterior segment dysgenesis in the eyes of mice deficient for the high-mobility-group transcription factor Sox11

(2008) Antje Wurm et al.   EXPERIMENTAL EYE RESEARCH

A New Locus for Congenital Cataract, Microcornea, Microphthalmia, and Atypical Iris Coloboma Maps to Chromosome 2

(2008) Hana Abouzeid et al.   OPHTHALMOLOGY

Subfunctionalization of Duplicated Zebrafish pax6 Genes by cis-Regulatory Divergence

(2008) Dirk A. Kleinjan et al.   PLoS Genetics