Associated Papers
Rare heterozygous missense variants in VSX2 are associated with retinal detachment.
Brock DC et al.
Plos Genetics, 2026
Genotypic and phenotypic spectrum of anophthalmia/microphthalmia in families from Khyber Pakhtunkhwa, Pakistan.
Dawood M et al.
Journal of Human Genetics, 2025
Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.
Cain B et al.
Biorxiv : the Preprint Server for Biology, 2025
Genetic and environmental factors contributing to anophthalmia and microphthalmia: Current understanding and future directions.
Goyal S et al.
World Journal of Clinical Pediatrics, 2025
SOX2-VSX2 Co-Occupancy Shapes Retinal Neurogenesis Through Dynamic Chromatin Regulation.
Bian F et al.
Biorxiv : the Preprint Server for Biology, 2025
SOX2-driven enhancer landscape defines the transcriptional architecture of retinogenesis.
Bian F et al.
Development (cambridge, England), 2024
Microphthalmia and disrupted retinal development due to a LacZ knock-in/knock-out allele at the Vsx2 locus.
Napoli FR et al.
Biorxiv : the Preprint Server for Biology, 2024
Microphthalmia and Disrupted Retinal Development Due to a LacZ Knock-in/Knock-Out Allele at the Vsx2 Locus.
Napoli FR et al.
Eye and Brain, 2024
Application of Human Stem Cell Derived Retinal Organoids in the Exploration of the Mechanisms of Early Retinal Development.
Kang J et al.
Stem Cell Reviews and Reports, 2023
Functional analysis of the Vsx2 super-enhancer uncovers distinct cis-regulatory circuits controlling Vsx2 expression during retinogenesis.
Bian F et al.
Development (cambridge, England), 2022
Pluripotent stem cell-derived retinal organoids for disease modeling and development of therapies.
Kruczek K et al.
Stem Cells (dayton, Ohio), 2020
Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.
Jackson D et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
The Use of Induced Pluripotent Stem Cells as a Model for Developmental Eye Disorders.
Eintracht J et al.
Frontiers in Cellular Neuroscience, 2020
The Role of FGF9 in the Production of Neural Retina and RPE in a Pluripotent Stem Cell Model of Early Human Retinal Development.
Gamm DM et al.
American Journal of Ophthalmology, 2019
Patient-derived induced pluripotent stem cells for modelling genetic retinal dystrophies.
Foltz LP et al.
Progress in Retinal and Eye Research, 2019
Regulation of WNT Signaling by VSX2 During Optic Vesicle Patterning in Human Induced Pluripotent Stem Cells.
Capowski EE et al.
Stem Cells (dayton, Ohio), 2016
Treatment Paradigms for Retinal and Macular Diseases Using 3-D Retina Cultures Derived From Human Reporter Pluripotent Stem Cell Lines.
Kaewkhaw R et al.
Investigative Ophthalmology & Visual Science, 2016
Lens subluxation and retinal dysfunction in a girl with homozygous VSX2 mutation.
Khan AO et al.
Ophthalmic Genetics, 2015
iPS Cells for Modelling and Treatment of Retinal Diseases.
Chen FK et al.
Journal of Clinical Medicine, 2014
Modeling human retinal development with patient-specific induced pluripotent stem cells reveals multiple roles for visual system homeobox 2.
Phillips MJ et al.
Stem Cells (dayton, Ohio), 2014
Vsx2 controls eye organogenesis and retinal progenitor identity via homeodomain and non-homeodomain residues required for high affinity DNA binding.
Zou C et al.
Plos Genetics, 2012
Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy.
Iseri SU et al.
Human Genetics, 2010
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar.
Faiyaz-Ul-Haque M et al.
Clinical Genetics, 2007
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds.
Bar-Yosef U et al.
Human Genetics, 2004
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Percin EF, Ploder LA, Yu JJ, Arici K, Horsford DJ, Rutherford A, Bapat B, Cox DW, Duncan AMV, Kalnins VI, Kocak-Altintas A, Sowden JC, Trabousli E, Sarfarazi M, McInnes RR.*(1) Nat Gen 2000;25:397-401.
Unknown Author
American Journal of Ophthalmology, 2001
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.
Ferda Percin E et al.
Nature Genetics, 2000
Animal and cellular models of microphthalmia.
Harding P et al.
Therapeutic Advances in Rare Disease, 0