Pathophysiology of aniridia-associated keratopathy: Developmental aspects and unanswered questions
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Title
Pathophysiology of aniridia-associated keratopathy: Developmental aspects and unanswered questions
Authors
Keywords
Aniridia-associated keratopathy (AAK), PAX6, Anterior chamber, Development, Limbal stem cells, (LSC), Aniridia, Aniridia animal and cellular models, Clinical research, Research strategies, Limbal niche
Journal
Ocular Surface
Volume 22, Issue -, Pages 245-266
Publisher
Elsevier BV
Online
2021-09-11
DOI
10.1016/j.jtos.2021.09.001
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Note: Only part of the references are listed.- Exploring the human lacrimal gland using organoids and single-cell sequencing
- (2021) Marie Bannier-Hélaouët et al. Cell Stem Cell
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- (2021) Olivia Farrelly et al. Cell Stem Cell
- Discrete limbal epithelial stem cell populations mediate corneal homeostasis and wound healing
- (2021) Anna Altshuler et al. Cell Stem Cell
- Molecular identity of human limbal heterogeneity involved in corneal homeostasis and privilege
- (2021) Shengqian Dou et al. Ocular Surface
- Dysfunction of the limbal epithelial stem cell niche in aniridia-associated keratopathy
- (2021) Ursula Schlötzer-Schrehardt et al. Ocular Surface
- Aniridia with PAX6 mutations and narcolepsy
- (2020) Shala Ghaderi Berntsson et al. JOURNAL OF SLEEP RESEARCH
- In vivo evaluation of corneal nerves and epithelial healing after treatment with recombinant nerve growth factor for neurotrophic keratopathy.
- (2020) Leonardo Mastropasqua et al. AMERICAN JOURNAL OF OPHTHALMOLOGY
- Sensory neurons directly promote angiogenesis in response to inflammation via substance P signaling
- (2020) Lingjia Liu et al. FASEB JOURNAL
- Gene dosage manipulation alleviates manifestations of hereditary PAX6 haploinsufficiency in mice
- (2020) Behnam Rabiee et al. Science Translational Medicine
- Human corneal limbal organoids maintaining limbal stem cell niche function
- (2020) Kazunari Higa et al. Stem Cell Research
- Morphometric analysis of the lens in human aniridia and mouse Small eye
- (2020) Anna Voskresenskaya et al. EXPERIMENTAL EYE RESEARCH
- Efficacy of autologous serum tears for treatment of neuropathic corneal pain
- (2019) Shruti Aggarwal et al. Ocular Surface
- MicroRNAs in the cornea: Role and implications for treatment of corneal neovascularization
- (2019) Anthony Mukwaya et al. Ocular Surface
- Assessment of corneal substrate biomechanics and its effect on epithelial stem cell maintenance and differentiation
- (2019) Ricardo M. Gouveia et al. Nature Communications
- Mesenchymal Stem Cells Reduce Corneal Fibrosis and Inflammation Via Extracellular Vesicle‐Mediated Delivery of miRNA
- (2019) Golnar Shojaati et al. Stem Cells Translational Medicine
- PAX6 mutational status determines aniridia-associated keratopathy phenotype
- (2019) Neil Lagali et al. OPHTHALMOLOGY
- Topical Recombinant Human Nerve Growth Factor (Cenegermin) for Neurotrophic Keratopathy
- (2019) Stephen C. Pflugfelder et al. OPHTHALMOLOGY
- Early phenotypic features of aniridia-associated keratopathy and association with PAX6 coding mutations
- (2019) Neil Lagali et al. Ocular Surface
- Stem cell–driven lymphatic remodeling coordinates tissue regeneration
- (2019) Shiri Gur-Cohen et al. SCIENCE
- Effects of topical autologous serum on the ocular surface in patients with toxic corneal epitheliopathy induced by anti-glaucoma drugs
- (2019) Chang Ho Yoon et al. INTERNATIONAL OPHTHALMOLOGY
- The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye
- (2019) Dulce Lima Cunha et al. Genes
- Meibomian gland dysfunction and keratopathy are associated with dry eye disease in aniridia
- (2018) Erlend Christoffer Sommer Landsend et al. BRITISH JOURNAL OF OPHTHALMOLOGY
- Optimized Protocol for Regeneration of the Conjunctival Epithelium Using the Cell Suspension Technique
- (2018) Marina Bertolin et al. CORNEA
- Human aniridia limbal epithelial cells lack expression of keratins K3 and K12
- (2018) Lorenz Latta et al. EXPERIMENTAL EYE RESEARCH
- An Insight into the Difficulties in the Discovery of Specific Biomarkers of Limbal Stem Cells
- (2018) Zhi Guo et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- The genetics of aniridia — simple things become complicated
- (2018) Anna Wawrocka et al. JOURNAL OF APPLIED GENETICS
- Relationship between neural crest cell specification and rare ocular diseases
- (2018) Monica Akula et al. JOURNAL OF NEUROSCIENCE RESEARCH
- Stage-related central corneal epithelial transformation in congenital aniridia-associated keratopathy
- (2018) Neil Lagali et al. Ocular Surface
- Aniridia-related keratopathy: Structural changes in naïve and transplanted corneal buttons
- (2018) André Vicente et al. PLoS One
- Bmi1+ Progenitor Cell Dynamics in Murine Cornea During Homeostasis and Wound Healing
- (2018) Solja Kalha et al. STEM CELLS
- Modeling of Aniridia-Related Keratopathy by CRISPR/Cas9 Genome Editing of Human Limbal Epithelial Cells and Rescue by Recombinant PAX6 Protein
- (2018) Lauriane N. Roux et al. STEM CELLS
- The genetics of congenital aniridia—a guide for the ophthalmologist
- (2018) Erlend S. Landsend et al. SURVEY OF OPHTHALMOLOGY
- Corneal-Committed Cells Restore the Stem Cell Pool and Tissue Boundary following Injury
- (2018) Waseem Nasser et al. Cell Reports
- Transcriptome Profiling of Neovascularized Corneas Reveals miR-204 as a Multi-target Biotherapy Deliverable by rAAVs
- (2018) Yi Lu et al. Molecular Therapy-Nucleic Acids
- Epistasis between Pax6Sey and genetic background reinforces the value of defined hybrid mouse models for therapeutic trials
- (2018) Jack W. Hickmott et al. GENE THERAPY
- Protecting Pax6 3’UTR from microRNA-7 partially restores PAX6 in islets from an aniridia mouse model.
- (2018) Kevin Yongblah et al. Molecular Therapy-Nucleic Acids
- Lens-regulated retinoic acid signalling controls expansion of the developing eye
- (2018) Jonathan N. Smith et al. DEVELOPMENT
- SOX2 regulates P63 and stem/progenitor cell state in the corneal epithelium
- (2018) Swarnabh Bhattacharya et al. STEM CELLS
- A proof-of-concept clinical trial using mesenchymal stem cells for the treatment of corneal epithelial stem cell deficiency
- (2018) Margarita Calonge et al. Translational Research
- In Vivo Evaluation of PAX6 Overexpression and NMDA Cytotoxicity to Stimulate Proliferation in the Mouse Retina
- (2018) Ehsan Ranaei Pirmardan et al. Scientific Reports
- Expression of retinoic acid signaling components ADH7 and ALDH1A1 is reduced in aniridia limbal epithelial cells and a siRNA primary cell based aniridia model
- (2018) Lorenz Latta et al. EXPERIMENTAL EYE RESEARCH
- PAX6: 25th anniversary and more to learn
- (2017) Ales Cvekl et al. EXPERIMENTAL EYE RESEARCH
- miR-184 exhibits angiostatic properties via regulation of Akt and VEGF signaling pathways
- (2017) Jong Kook Park et al. FASEB JOURNAL
- Meibomian gland morphogenesis requires developmental eyelid closure and lid fusion
- (2017) Jingjing Wang et al. Ocular Surface
- Clinical and morphological manifestations of aniridia-associated keratopathy on anterior segment optical coherence tomography and in vivo confocal microscopy
- (2017) Anna Voskresenskaya et al. Ocular Surface
- Corneal stromal stem cells reduce corneal scarring by mediating neutrophil infiltration after wounding
- (2017) Andrew J. Hertsenberg et al. PLoS One
- Signaling and Gene Regulatory Networks in Mammalian Lens Development
- (2017) Ales Cvekl et al. TRENDS IN GENETICS
- Keratin-14-Positive Precursor Cells Spawn a Population of Migratory Corneal Epithelia that Maintain Tissue Mass throughout Life
- (2017) Alexander Richardson et al. Stem Cell Reports
- Topical bevacizumab treatment in aniridia
- (2017) Ruth Lapid-Gortzak et al. INTERNATIONAL OPHTHALMOLOGY
- Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome
- (2016) Sylvie Gerber et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Understanding the Pathogenesis of Neurotrophic Keratitis: The Role of Corneal Nerves
- (2016) Leonardo Mastropasqua et al. JOURNAL OF CELLULAR PHYSIOLOGY
- Stem Cells in the Limbal Stroma
- (2016) James L. Funderburgh et al. Ocular Surface
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- (2016) Vanessa Barbaro et al. STEM CELLS
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- (2016) Nan Gao et al. Scientific Reports
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- (2016) Morad Ansari et al. PLoS One
- Neural crest derivatives in ocular development: Discerning the eye of the storm
- (2015) Antionette L. Williams et al. BIRTH DEFECTS RESEARCH PART C-EMBRYO TODAY-REVIEWS
- Wnt/β-catenin signaling modulates corneal epithelium stratification via inhibition of Bmp4 during mouse development
- (2015) Yujin Zhang et al. DEVELOPMENT
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- (2015) A. C. Carpenter et al. DEVELOPMENT
- Limbal melanocytes support limbal epithelial stem cells in 2D and 3D microenvironments
- (2015) Marc A. Dziasko et al. EXPERIMENTAL EYE RESEARCH
- MicroRNA-204-5p-Mediated Regulation of SIRT1 Contributes to the Delay of Epithelial Cell Cycle Traversal in Diabetic Corneas
- (2015) J. Gao et al. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
- Transcription Factor PAX6 (Paired Box 6) Controls Limbal Stem Cell Lineage in Development and Disease
- (2015) Gen Li et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Homeoprotein Signaling in the Developing and Adult Nervous System
- (2015) Alain Prochiantz et al. NEURON
- Progress in corneal wound healing
- (2015) Alexander V. Ljubimov et al. PROGRESS IN RETINAL AND EYE RESEARCH
- Cell Adhesion Molecules and Stem Cell-Niche-Interactions in the Limbal Stem Cell Niche
- (2015) Naresh Polisetti et al. STEM CELLS
- Stage-dependent requirement of neuroretinal Pax6 for lens and retina development
- (2014) L. Klimova et al. DEVELOPMENT
- The cellular and molecular mechanisms of vertebrate lens development
- (2014) A. Cvekl et al. DEVELOPMENT
- The homeodomain transcription factor PITX2 is required for specifying correct cell fates and establishing angiogenic privilege in the developing cornea
- (2014) Philip J. Gage et al. DEVELOPMENTAL DYNAMICS
- Whole exome sequence analysis of Peters anomaly
- (2014) Eric Weh et al. HUMAN GENETICS
- Human Limbal Mesenchymal Cells Support the Growth of Human Corneal Epithelial Stem/Progenitor Cells
- (2014) M. N. Nakatsu et al. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
- WNT7A and PAX6 define corneal epithelium homeostasis and pathogenesis
- (2014) Hong Ouyang et al. NATURE
- Localisation of Epithelial Cells Capable of Holoclone Formation In Vitro and Direct Interaction with Stromal Cells in the Native Human Limbal Crypt
- (2014) Marc A. Dziasko et al. PLoS One
- Plasticity of epithelial stem cells in tissue regeneration
- (2014) C. Blanpain et al. SCIENCE
- Tracing the Fate of Limbal Epithelial Progenitor Cells in the Murine Cornea
- (2014) N. Di Girolamo et al. STEM CELLS
- Lineage Tracing of Stem and Progenitor Cells of the Murine Corneal Epithelium
- (2014) Aya Amitai-Lange et al. STEM CELLS
- Corneal nerves in health and disease
- (2014) Brittany Simmons Shaheen et al. SURVEY OF OPHTHALMOLOGY
- PAX6 Regulates Melanogenesis in the Retinal Pigmented Epithelium through Feed-Forward Regulatory Interactions with MITF
- (2014) Shaul Raviv et al. PLoS Genetics
- Cataract development in Norwegian patients with congenital aniridia
- (2013) Ulla Edén et al. ACTA OPHTHALMOLOGICA
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- (2013) Christina K. Marko et al. AMERICAN JOURNAL OF PATHOLOGY
- Towards a dynamic customised therapy for ocular surface dysfunctions
- (2013) Pasquale Aragona et al. BRITISH JOURNAL OF OPHTHALMOLOGY
- Development of the Ciliary Body: Morphological Changes in the Distal Portion of the Optic Cup in the Human
- (2013) M.D. Peces-Peña et al. CELLS TISSUES ORGANS
- RPE specification in the chick is mediated by surface ectoderm-derived BMP and Wnt signalling
- (2013) J. Steinfeld et al. DEVELOPMENT
- The Corneal Epithelium and Lens Develop Independently From a Common Pool of Precursors
- (2013) Elodie Collomb et al. DEVELOPMENTAL DYNAMICS
- In vivo confocal microscopy of congenital aniridia-associated keratopathy
- (2013) Q Le et al. EYE
- Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation
- (2013) Robert M. Harmon et al. JOURNAL OF CLINICAL INVESTIGATION
- Analysis of protein composition and protein expression in the tear fluid of patients with congenital aniridia
- (2013) Robert Ihnatko et al. Journal of Proteomics
- Increased Corneal Epithelial Turnover Contributes to Abnormal Homeostasis in the Pax6+/− Mouse Model of Aniridia
- (2013) Panagiotis Douvaras et al. PLoS One
- Stem cell dynamics in the hair follicle niche
- (2013) Panteleimon Rompolas et al. SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
- Pax6 Regulates Gene Expression in the Vertebrate Lens through miR-204
- (2013) Ohad Shaham et al. PLoS Genetics
- The impact of age on the physical and cellular properties of the human limbal stem cell niche
- (2012) M. Notara et al. AGE
- Distribution of Antigen Presenting Cells in the Human Cornea: Correlation of In Vivo Confocal Microscopy and Immunohistochemistry in Different Pathologic Entities
- (2012) Wolfgang J. Mayer et al. CURRENT EYE RESEARCH
- PITX2 and FOXC1 spectrum of mutations in ocular syndromes
- (2012) Linda M Reis et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Pathologic Epithelial and Anterior Corneal Nerve Morphology in Early-Stage Congenital Aniridic Keratopathy
- (2012) Ulla Edén et al. OPHTHALMOLOGY
- Pax6: A multi-level regulator of ocular development
- (2012) Ohad Shaham et al. PROGRESS IN RETINAL AND EYE RESEARCH
- Aquaporin 1-positive stromal niche-like cells directly interact with N-cadherin-positive clusters in the basal limbal epithelium
- (2012) Kazunari Higa et al. Stem Cell Research
- Corneal Goblet Cells and Their Niche: Implications for Corneal Stem Cell Deficiency
- (2012) Ahdeah Pajoohesh-Ganji et al. STEM CELLS
- Concise Review: Stem Cells in the Corneal Stroma
- (2012) Niveditha Pinnamaneni et al. STEM CELLS
- Pluripotent Stem Cell Model Reveals Essential Roles for miR-450b-5p and miR-184 in Embryonic Corneal Lineage Specification
- (2012) Ruby Shalom-Feuerstein et al. STEM CELLS
- IL-17 and VEGF Are Necessary for Efficient Corneal Nerve Regeneration
- (2011) Zhijie Li et al. AMERICAN JOURNAL OF PATHOLOGY
- The Basement Membrane of Hair Follicle Stem Cells Is a Muscle Cell Niche
- (2011) Hironobu Fujiwara et al. CELL
- Limbal Stem Cell Deficiency and Ocular Phenotype in Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Caused by p63 Mutations
- (2011) Enzo Di Iorio et al. OPHTHALMOLOGY
- Effects of Aberrant Pax6 Gene Dosage on Mouse Corneal Pathophysiology and Corneal Epithelial Homeostasis
- (2011) Richard L. Mort et al. PLoS One
- Rare corneal clones in mice suggest an age-related decrease of stem cell activity and support the limbal epithelial stem cell hypothesis
- (2011) Panagiotis Douvaras et al. Stem Cell Research
- Limbal Epithelial Stem/Progenitor Cells Attract Stromal Niche Cells by SDF-1/CXCR4 Signaling to Prevent Differentiation
- (2011) Hua-Tao Xie et al. STEM CELLS
- Aniridia: sight-threatening and hard to cure
- (2010) Kristina Tornqvist ACTA OPHTHALMOLOGICA
- ΔNp63 is an ectodermal gatekeeper of epidermal morphogenesis
- (2010) R Shalom-Feuerstein et al. CELL DEATH AND DIFFERENTIATION
- Retinoic acid signaling in perioptic mesenchyme represses Wnt signaling via induction of Pitx2 and Dkk2
- (2010) Sandeep Kumar et al. DEVELOPMENTAL BIOLOGY
- Reduced expression of Pax6 in lens and cornea of mutant mice leads to failure of chamber angle development and juvenile glaucoma
- (2010) M. Kroeber et al. HUMAN MOLECULAR GENETICS
- The lens epithelium in ocular health and disease
- (2010) G. Martinez et al. INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
- Pax6 Controls the Expression of Critical Genes Involved in Pancreatic α Cell Differentiation and Function
- (2010) Yvan Gosmain et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Location of corneal epithelial stem cells
- (2010) Tung-Tien Sun et al. NATURE
- Limbal Stem-Cell Therapy and Long-Term Corneal Regeneration
- (2010) Paolo Rama et al. NEW ENGLAND JOURNAL OF MEDICINE
- miR-204 is required for lens and retinal development via Meis2 targeting
- (2010) I. Conte et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Tissue-Regenerating, Vision-Restoring Corneal Epithelial Stem Cells
- (2010) Timothy Jerome Echevarria et al. Stem Cell Reviews and Reports
- Pax6 is essential for lens fiber cell differentiation
- (2009) O. Shaham et al. DEVELOPMENT
- Pax6 dosage requirements in iris and ciliary body differentiation
- (2009) Noa Davis et al. DEVELOPMENTAL BIOLOGY
- Normal ventral telencephalic expression of Pax6 is required for normal development of thalamocortical axons in embryonic mice
- (2009) T Ian Simpson et al. Neural Development
- The Role of Limbal Stem Cells in Corneal Epithelial Maintenance
- (2009) Harminder S. Dua et al. OPHTHALMOLOGY
- Stem Cell Activity in the Developing Human Cornea
- (2009) Sarah B. Davies et al. STEM CELLS
- Hair Follicle Stem Cells Are Specified and Function in Early Skin Morphogenesis
- (2008) Jonathan A. Nowak et al. Cell Stem Cell
- The canonical Wnt signaling antagonist DKK2 is an essential effector of PITX2 function during normal eye development
- (2008) Philip J. Gage et al. DEVELOPMENTAL BIOLOGY
- PAX6 dosage effects on corneal development, growth, and wound healing
- (2008) Natalie Dorà et al. DEVELOPMENTAL DYNAMICS
- Pax6Haploinsufficiency Causes Abnormal Metabolic Homeostasis by Down-Regulating Glucagon-Like Peptide 1 in Mice
- (2008) Jun Ding et al. ENDOCRINOLOGY
- Chronic wound state exacerbated by oxidative stress in Pax6+/− aniridia-related keratopathy
- (2008) J Ou et al. JOURNAL OF PATHOLOGY
- Oligopotent stem cells are distributed throughout the mammalian ocular surface
- (2008) François Majo et al. NATURE
- Iris development in vertebrates; genetic and molecular considerations
- (2007) Noa Davis-Silberman et al. BRAIN RESEARCH
- Autologous Serum Eyedrops in the Treatment of Aniridic Keratopathy
- (2007) J.S. López-García et al. OPHTHALMOLOGY
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