, Etudes in vivo sur souris Pax6
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,
,
Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: dose effect of the PAX6 gene product?, Am. J. Med. Genet, vol.73, pp.267-271, 1997. ,
Induced pluripotent stem cell-derived limbal epithelial cells (LiPSC) as a cellular alternative for in vitro ocular toxicity testing, PLOS ONE, vol.12, 2017. ,
Isolation and characterization of BCP 54, the major soluble protein of bovine cornea, Exp. Eye Res, vol.32, pp.205-216, 1981. ,
, , 2006.
, Nature, vol.443, pp.993-997
,
, Lineage Tracing of Stem and Progenitor Cells of the Murine Corneal Epithelium, STEM CELLS, vol.33, pp.230-239
Ocular Surface Stem Cell Transplantation Rejection: Incidence, Characteristics, and Outcomes, Cornea, vol.32, pp.229-236, 2013. ,
Congenital aniridia, J. Curr. Glaucoma Pract, vol.5, pp.1-13, 2011. ,
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome, PLOS ONE, vol.11, 2016. ,
, , p.6, 2003.
Nonsense Mutations Inhibit RNA Splicing in a Cell-Free System: Recognition of Mutant Codon Is Independent of Protein Synthesis, Cell, vol.85, pp.415-422, 1996. ,
De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestations, Am. J. Med. Genet. A, vol.155, pp.442-444, 2011. ,
Long term treatment with sodium hyaluronate-containing artificial tears reduces ocular surface damage in patients with dry eye, Br. J. Ophthalmol, vol.86, pp.181-184, 2002. ,
Limbal stem cell transplantation: current perspectives, Clin. Ophthalmol. Auckl. NZ, vol.10, pp.593-602, 2016. ,
Novel and De-novo Truncating PAX6 Mutations and Ocular Phenotypes in Thai Aniridia Patients, Ophthalmic Genet, vol.27, pp.21-27, 2006. ,
Scanning slit confocal microscopic observation of cell morphology and movement within the normal human anterior cornea, Ophthalmology, vol.102, pp.33-41, 1995. ,
The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases, J. Med. Genet, vol.34, pp.279-286, 1997. ,
Missense Mutation in the Alternative Splice Region of the PAX6 Gene in Eye Anomalies, Am. J. Hum. Genet, vol.65, pp.656-663, 1999. ,
The Pax6 isoform bearing an alternative spliced exon promotes the development of the neural retinal structure, Hum. Mol. Genet, vol.14, pp.735-745, 2005. ,
Nonsense-mediated mRNA decay: terminating erroneous gene expression, Curr. Opin. Cell Biol, vol.16, pp.293-299, 2004. ,
Evolution of functional diversification of the paired box (Pax) DNA-binding domains, Mol. Biol. Evol, vol.14, pp.829-842, 1997. ,
Auditory Interhemispheric Transfer Deficits, Hearing Difficulties, and Brain Magnetic Resonance Imaging Abnormalities in Children With Congenital Aniridia Due to PAX6 Mutations, Arch. Pediatr. Adolesc. Med, vol.161, p.463, 2007. ,
Embryogenetics: gene control of the embryogenesis of the eye, Vet. Ophthalmol, vol.10, pp.133-136, 2007. ,
Three clonal types of keratinocyte with different capacities for multiplication, Proc. Natl. Acad. Sci, vol.84, pp.2302-2306, 1987. ,
Applications of CRISPR technologies in research and beyond, Nat. Biotechnol, vol.34, pp.933-941, 2016. ,
CRISPR Provides Acquired Resistance Against Viruses in Prokaryotes, Science, vol.315, pp.1709-1712, 2007. ,
The spatial organization of corneal endothelial cytoskeletal proteins and their relationship to the apical junctional complex, vol.36, p.10, 1995. ,
Limbal Stem Cell Deficiency and Treatment with Stem Cell Transplantation, Turk. J. Ophthalmol, vol.47, pp.285-291, 2017. ,
13 years of cultured limbal epithelial cell therapy: A review of the outcomes, J. Cell. Biochem, vol.112, pp.993-1002, 2011. ,
Anterior segment dysgenesis keratolenticular adhesion and aniridia, J. Pediatr. Ophthalmol. Strabismus, vol.17, pp.55-58, 1980. ,
Cell-penetrating peptides: 20years later, where do we stand?, FEBS Lett, vol.587, pp.1693-1702, 2013. ,
Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line, Nat. Med, vol.3, pp.1280-1284, 1997. ,
Eye dryness sensations after refractive surgery: impaired tear secretion or "phantom" cornea?, J. Refract. Surg. Thorofare NJ, vol.23, pp.598-602, 1995. ,
In vivo requirement for the paired domain and homeodomain of the paired segmentation gene product, Dev. Camb. Engl, vol.122, pp.2673-2685, 1996. ,
Peters Anomaly: Review of the Literature: Cornea, vol.30, pp.939-944, 2011. ,
Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia, Am. J. Hum. Genet, vol.93, pp.1126-1134, 2013. ,
FokI dimerization is required for DNA cleavage, Proc. Natl. Acad. Sci, vol.95, pp.10570-10575, 1998. ,
Breaking the Code of DNA Binding Specificity of TAL-Type III Effectors, Science, vol.326, pp.1509-1512, 2009. ,
Lamellar orientation in human cornea in relation to mechanical properties, J. Struct. Biol, vol.149, pp.1-6, 2005. ,
Cancer syndromes and therapy by stop-codon readthrough, Trends Mol. Med, vol.18, pp.667-678, 2012. ,
Identification of neural crest-derived stem cell-like cells from the corneal limbus of juvenile mice, Exp. Eye Res, vol.89, pp.209-217, 2009. ,
Markedly increased central corneal thickness: an unrecognized finding in congenital aniridia, Am. J. Ophthalmol, vol.137, pp.348-350, 2004. ,
Characteristics and Outcomes of Children With the Wilms Tumor-Aniridia Syndrome: A Report From the National Wilms Tumor Study Group, J. Clin. Oncol, vol.21, pp.4579-4585, 2003. ,
CRISPR ethics: Moral considerations for applications of a powerful tool, J. Mol. Biol, 2018. ,
, Small CRISPR RNAs Guide Antiviral Defense in Prokaryotes. Science, vol.321, pp.960-964, 2008.
Wilms' nephroblastoma and congenital renal diseases in the case reports of the, 1953. ,
, Minerva Pediatr, vol.5, pp.457-463
Measurement of centripetal migration of normal corneal epithelial cells in the mouse, Invest. Ophthalmol. Vis. Sci, vol.26, pp.1296-1299, 1985. ,
The Role of Pax Genes in the Development of Tissues and Organs: Pax3 and Pax7 Regulate Muscle Progenitor Cell Functions, Annu. Rev. Cell Dev. Biol, vol.23, pp.645-673, 2007. ,
Homeodomain proteins: an update, Chromosoma, vol.125, pp.497-521, 2016. ,
Role of non-homologous end joining (NHEJ) in maintaining genomic integrity, DNA Repair, vol.5, pp.1042-1048, 2006. ,
, Congenital Aniridia: Clinic, Genetics, Therapeutics, and Prognosis, 2014.
An Allelic Series at the Paired Box Gene 6 ( Pax6 ) Locus Reveals the Functional Specificity of Pax Genes, J. Biol. Chem, vol.288, pp.12130-12141, 2013. ,
Characterization of quail Pax-6 (Pax-QNR) proteins expressed in the neuroretina, Mol. Cell. Biol, vol.13, pp.7257-7266, 1993. ,
Nuclear localization signals, DNA binding, and transactivation properties of quail Pax-6 (Pax-QNR) isoforms, Cell Growth Differ, vol.6, p.1531, 1995. ,
Pax: Gene regulators in the developing nervous system, J. Neurobiol, vol.24, pp.1367-1384, 1993. ,
Existence of Normal Limbal Epithelium in Eyes With Clinical Signs of Total Limbal Stem Cell Deficiency, Cornea, vol.35, pp.1483-1487, 2016. ,
Epithelial Thinning in Limbal Stem Cell Deficiency, Am. J. Ophthalmol, vol.160, pp.669-677, 2015. ,
Effects of Elevated Pax6 Expression and Genetic Background on Mouse Eye Development, Invest. Ophthalmol. Vis. Sci, vol.50, pp.4045-4059, 2009. ,
The Nonsense-Mediated Decay RNA Surveillance Pathway, Annu. Rev. Biochem, vol.76, pp.51-74, 2007. ,
CtIP fusion to Cas9 enhances transgene integration by homology-dependent repair, Nat. Commun, vol.9, 2018. ,
URL : https://hal.archives-ouvertes.fr/inserm-02156427
Functional Properties of Natural Human PAX6 and PAX6(5a) Mutants, Invest. Ophthalmol. Vis. Sci, vol.45, pp.385-392, 2004. ,
Functional interactions between alternatively spliced forms of Pax6 in crystallin gene regulation and in haploinsufficiency, Nucleic Acids Res, vol.32, pp.1696-1709, 2004. ,
Corneal epithelial wound healing in partial limbal deficiency, Invest. Ophthalmol. Vis. Sci, vol.31, pp.1301-1314, 1990. ,
Goniosurgery for prevention of aniridic glaucoma, Trans. Am. Ophthalmol. Soc, vol.96, pp.155-169, 1998. ,
Genetic causes of optic nerve hypoplasia, J. Med. Genet, pp.2017-104626, 2017. ,
Genome-wide CRISPR Screen in a Mouse Model of Tumor Growth and Metastasis, Cell, vol.160, pp.1246-1260, 2015. ,
Conjunctival epithelial cells do not transdifferentiate in organotypic cultures: expression of K12 keratin is restricted to corneal epithelium, Curr. Eye Res, vol.13, pp.765-778, 1994. ,
HC-HA/PTX3 Purified From Amniotic Membrane Promotes BMP Signaling in Limbal Niche Cells to Maintain Quiescence of Limbal Epithelial Progenitor/Stem Cells, STEM CELLS, vol.33, pp.3341-3355, 2015. ,
Characterization of Putative Stem Cell Phenotype in Human Limbal Epithelia, STEM CELLS, vol.22, pp.355-366, 2004. ,
Efficacy and safety of pre-Descemet's membrane sutures for the management of acute corneal hydrops in keratoconus, Br. J. Ophthalmol, vol.99, pp.773-777, 2015. ,
Targeting DNA Double-Strand Breaks with TAL Effector Nucleases, Genetics, vol.186, pp.757-761, 2010. ,
Topical Delivery of Anti-VEGF Drugs to the Ocular Posterior Segment Using Cell-Penetrating Peptides, Invest. Ophthalmol. Vis. Sci, vol.58, pp.2578-2590, 2017. ,
The terminology of early development: History, concepts, and current usage, Clin. Anat, vol.8, pp.418-425, 1995. ,
Different roles for Pax6 in the optic vesicle and facial epithelium mediate early morphogenesis of the murine eye, Dev. Camb. Engl, vol.127, pp.945-956, 2000. ,
Primary defects in the lens underlie complex anterior segment abnormalities of the Pax6 heterozygous eye, Proc. Natl. Acad. Sci. U. S. A, vol.98, pp.9688-9693, 2001. ,
Clonal analysis of patterns of growth, stem cell activity, and cell movement during the development and maintenance of the murine corneal epithelium, 2002. ,
, Dev. Dyn, vol.224, pp.432-440
The roles of Pax6 in the cornea, retina, and olfactory epithelium of the developing mouse embryo, Dev. Biol, vol.255, pp.303-312, 2003. ,
Corneal Development, Limbal Stem Cell Function, and Corneal Epithelial Cell Migration in the Pax6 +/? Mouse, Investig. Opthalmology Vis. Sci, vol.45, p.1101, 2004. ,
Existence of slow-cycling limbal epithelial basal cells that can be preferentially stimulated to proliferate: Implications on epithelial stem cells, Cell, vol.57, pp.201-209, 1989. ,
, , 2010.
, Potent Delivery of Functional Proteins into Mammalian Cells in Vitro and in Vivo Using a Supercharged Protein, ACS Chem. Biol, vol.5, pp.747-752
Pax6 Is Essential for the Maintenance and Multi-Lineage Differentiation of Neural Stem Cells, and for Neuronal Incorporation into the Adult Olfactory Bulb, Stem Cells Dev, vol.23, pp.2813-2830, 2014. ,
PAX6: 25th anniversary and more to learn, Exp. Eye Res, vol.156, pp.10-21, 2017. ,
DNA-binding and transactivation properties of Pax-6: three amino acids in the paired domain are responsible for the different sequence recognition of Pax-6 and BSAP (Pax-5), Mol. Cell. Biol, vol.15, pp.2858-2871, 1995. ,
twin of eyeless, a Second Pax-6 Gene of Drosophila, Acts Upstream of eyeless in the Control of Eye Development, Mol. Cell, vol.3, pp.297-307, 1999. ,
Role of the pericorneal papillary structure in renewal of corneal epithelium, Nature, vol.229, pp.560-561, 1971. ,
Requirement for Pax6 in corneal morphogenesis: a role in adhesion, J. Cell Sci, vol.116, pp.2157-2167, 2003. ,
Gene Expression of the Mouse Corneal Crystallin Aldh3a1: Activation by Pax6, Oct1, and p300, Invest. Ophthalmol. Vis. Sci, vol.49, pp.1814-1826, 2008. ,
Anatomy and physiology of the cornea, J. Cataract Refract. Surg, vol.37, pp.588-598, 2011. ,
CRISPR RNA maturation by trans-encoded small RNA and host factor RNase III, Nature, vol.471, pp.602-607, 2011. ,
Characterization of Limbal Stem Cell Deficiency by In Vivo Laser Scanning Confocal Microscopy: A Microstructural Approach, Arch. Ophthalmol, vol.130, pp.440-445, 2012. ,
The third helix of the Antennapedia homeodomain translocates through biological membranes, J. Biol. Chem, vol.269, pp.10444-10450, 1994. ,
Characterization of ex vivo cultured limbal, conjunctival, and oral mucosal cells: A comparative study with implications in transplantation medicine, Mol. Vis, vol.21, pp.828-845, 2015. ,
Isoforms of Np63 and the migration of ocular limbal cells in human corneal regeneration, Proc. Natl. Acad. Sci, vol.102, pp.9523-9528, 2005. ,
Paracrine Pax6 activity regulates oligodendrocyte precursor cell migration in the chick embryonic neural tube, Development, vol.138, pp.4991-5001, 2011. ,
The function of the corneal epithelium in health and disease, The Jonas S. Friedenwald Memorial Lecture. Invest. Ophthalmol, vol.10, pp.383-407, 1971. ,
Pax genes and the differentiation of hormoneproducing endocrine cells in the pancreas, Mech. Dev, vol.92, pp.47-54, 2000. ,
Stem Cell Heterogeneity and Plasticity in Epithelia, Cell Stem Cell, vol.16, pp.465-476, 2015. ,
PAX6 dosage effects on corneal development, growth, and wound healing, Dev. Dyn. Off. Publ. Am. Assoc. Anat, vol.237, pp.1295-1306, 2008. ,
The new frontier of genome engineering with CRISPR Cas9.pdf, Science, vol.346, 2014. ,
Increased Corneal Epithelial Turnover Contributes to Abnormal Homeostasis in the Pax6+/? Mouse Model of Aniridia, PLoS ONE, vol.8, 2013. ,
Retinal detachment and giant retinal tears in aniridia, Eye, vol.9, pp.268-270, 1995. ,
Limbal Stem Cells of the Corneal Epithelium, Surv. Ophthalmol, vol.44, pp.415-425, 2000. ,
Limbal stem cell deficiency : Concept, aetiology, clinical presentation, diagnosis and management, Indian J. Ophthalmol, vol.48, p.83, 2000. ,
Stem cell differentiation and the effects of deficiency, Eye, vol.17, pp.877-885, 2003. ,
Limbal epithelial crypts: a novel anatomical structure and a putative limbal stem cell niche, Br. J. Ophthalmol, vol.89, pp.529-532, 2005. ,
Human corneal anatomy redefined: a novel pre-Descemet's layer (Dua's layer), Ophthalmology, vol.120, pp.1778-1785, 2013. ,
Spatiotemporal expression patterns of Pax6 in the brain of embryonic, newborn, and adult mice, Brain Struct. Funct, vol.218, pp.353-372, 2013. ,
RNA recognition and translational regulation by a homeodomain protein, Nature, vol.379, pp.694-699, 1996. ,
Visual Development, Diagnosis, and Treatment of the Pediatric Patient, 2006. ,
Dual Roles for Pax-6: a, Transcriptional Repressor of Lens Fiber Cell-Specific ?-Crystallin Genes. MOL CELL BIOL, vol.18, 1998. ,
Overexpression of PAX6(5a) in lens fiber cells results in cataract and upregulation of (alpha)5(beta)1 integrin expression, J. Cell Sci, vol.113, pp.3173-3185, 2000. ,
Anatomical Features and Cell-Cell Interactions in the Human Limbal Epithelial Stem Cell Niche, Ocul. Surf, vol.14, pp.322-330, 2016. ,
Localisation of Epithelial Cells Capable of Holoclone Formation In Vitro and Direct Interaction with Stromal Cells in the Native Human Limbal Crypt, PLOS ONE, vol.9, p.94283, 2014. ,
Comparison of limbal and peripheral human corneal epithelium in tissue culture, Invest. Ophthalmol. Vis. Sci, vol.29, pp.1533-1537, 1988. ,
Vitronectin: A Matrix Support Factor for Human Limbal Epithelial Progenitor Cells, Invest. Ophthalmol. Vis. Sci, vol.52, pp.8138-8147, 2011. ,
Differential Distribution of Blood and Lymphatic Vessels in the Murine Cornea, Invest. Ophthalmol. Vis. Sci, vol.51, pp.2436-2440, 2010. ,
Aniridia among children and teenagers in Sweden and Norway, Acta Ophthalmol. (Copenh.), vol.87, pp.242-242, 2009. ,
, Corneal Involvement in Congenital Aniridia: Cornea, vol.29, pp.1096-1102, 2010.
Pathologic Epithelial and Anterior Corneal Nerve Morphology in Early-Stage Congenital Aniridic Keratopathy, Ophthalmology, vol.119, pp.1803-1810, 2012. ,
Chapter Two -Overview of the Cornea: Structure, Function, and Development, Progress in Molecular Biology and Translational Science, pp.7-23, 2015. ,
Cell-penetrating peptides: mechanisms and applications, Curr. Pharm. Des, vol.11, pp.3597-3611, 2005. ,
Identification of a Pax paired domain recognition sequence and evidence for DNA-dependent conformational changes, J. Biol. Chem, vol.269, pp.8355-8361, 1994. ,
Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing, Genes Dev, vol.8, pp.2022-2034, 1994. ,
Stromal niche controls the plasticity of limbal and corneal epithelial differentiation in a rabbit model of recombined tissue, Invest. Ophthalmol. Vis. Sci, vol.44, pp.5130-5135, 2003. ,
Characterization of Corneal Pannus Removed from Patients with Total Limbal Stem Cell Deficiency, Invest. Ophthalmol. Vis. Sci, vol.45, pp.2961-2966, 2004. ,
Pax6 is required to regulate the cell cycle and the rate of progression from symmetrical to asymmetrical division in mammalian cortical progenitors, Dev. Camb. Engl, vol.129, pp.455-466, 2002. ,
Transdifferentiation of embryonic and postnatal rabbit corneal epithelial cells, Differentiation, vol.57, pp.89-96, 1994. ,
Cellular uptake of the tat protein from human immunodeficiency virus, Cell, vol.55, pp.1189-1193, 1988. ,
The physical basis of transparency of the normal cornea, Eye, vol.11, pp.465-471, 1997. ,
Toward a CRISPR Picture: Use of CRISPR/Cas9 to Model Diseases in Human Stem Cells In Vitro, J. Cell. Biochem, vol.119, pp.62-68, 2018. ,
A Review of the Highly Conserved PAX6 Gene in Eye Development, J. Young Investig, vol.1, 1998. ,
Socializing with the neighbors: stem cells and their niche, Cell, vol.116, pp.769-778, 2004. ,
, New possibilities for ocular surface reconstruction: collagen membranes and biocompatible elastomer nanofibers, 2014.
, Ophthalmol. Z. Dtsch. Ophthalmol. Ges, vol.111, pp.1019-1026
Eye Morphogenesis and Patterning of the Optic Vesicle, Curr. Top. Dev. Biol, vol.93, pp.61-84, 2010. ,
L-Arginine Stimulates Fibroblast Proliferation through the GPRC6A-ERK1/2 and PI3K/Akt Pathway, PLoS ONE, vol.9, 2014. ,
PAX6 expression identifies progenitor cells for corneal keratocytes, FASEB J, vol.19, pp.1371-1373, 2005. ,
Fate Maps of Neural Crest and Mesoderm in the Mammalian Eye, Invest. Ophthalmol. Vis. Sci, vol.46, pp.4200-4208, 2005. ,
Homeo boxes in the study of development, Science, vol.236, pp.1245-1252, 1987. ,
Homeodomain-DNA recognition, Cell, vol.78, pp.211-223, 1994. ,
PAXgenes expression during human embryonic development, a preliminary report, C. R. Acad. Sci. III, vol.318, pp.57-66, 1995. ,
Easy xeno-free and feeder-free method for isolating and growing limbal stromal and epithelial stem cells of the human cornea, PLOS ONE, vol.12, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01760613
Aniridia, Cerebellar Ataxia, and Oligophrenia in Siblings, Arch. Ophthalmol, vol.73, pp.338-341, 1965. ,
Cell biology of the corneal epithelium, Princ. Pract. Ophthalmol. Phila. WB Saunders, vol.5, 1994. ,
Anchoring fibrils form a complex network in human and rabbit cornea, Invest. Ophthalmol. Vis. Sci, vol.28, pp.212-220, 1987. ,
Mucin Gene Expression in Immortalized Human Corneal-Limbal and Conjunctival Epithelial Cell Lines, Invest. Ophthalmol. Vis. Sci, vol.44, pp.2496-2506, 2003. ,
A mouse model of the aniridia-Wilms tumor deletion syndrome, Science, vol.250, pp.823-827, 1990. ,
Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene, Nat. Genet, vol.2, pp.232-239, 1992. ,
Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation), Genomics, vol.19, pp.145-148, 1994. ,
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects, Nat. Genet, vol.7, pp.463-471, 1994. ,
, , 1996.
, Recurrent keratopathy after penetrating keratoplasty for aniridia, Cornea, vol.15, pp.457-462
Limbal stem cells: identity, developmental origin, and therapeutic potential, Wiley Interdiscip. Rev. Dev. Biol, vol.7, p.303, 2018. ,
Mutually regulated expression of Pax6 and Six3 and its implications for the Pax6 haploinsufficient lens phenotype, Proc. Natl. Acad. Sci, vol.99, pp.8719-8724, 2002. ,
Chapter Ten -Eye Development, In Current Topics in Developmental Biology, pp.343-386, 2010. ,
Three Novel Pax6 Alleles in the Mouse Leading to the Same Small-Eye Phenotype Caused by Different Consequences at Target Promoters, Investig. Opthalmology Vis. Sci, vol.46, p.4671, 2005. ,
Larginine enhances cell proliferation and reduces apoptosis in human endometrial RL95-2 cells, Reprod. Biol. Endocrinol. RBE, vol.11, p.15, 2013. ,
, , 2014.
, Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects, J. Clin. Invest, vol.124, pp.111-116
The role of Pax-6 in eye and nasal development, Development, vol.121, pp.1433-1442, 1995. ,
Population-based risk estimates of Wilms tumor in sporadic aniridia: A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia, Hum. Genet, vol.109, pp.11-18, 2001. ,
Pax in development, Cell, vol.69, pp.719-722, 1992. ,
Expanding the genetic editing tool kit: ZFNs, TALENs, and CRISPR-Cas9, J. Clin. Invest, vol.124, pp.4154-4161, 2014. ,
Evaluation of off-target and ontarget scoring algorithms and integration into the guide RNA selection tool CRISPOR, Genome Biol, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01346049
Induction of ectopic eyes by targeted expression of the eyeless gene in Drosophila, Science, vol.267, pp.1788-1792, 1995. ,
RNA-Guided RNA Cleavage by a CRISPR RNA-Cas Protein Complex, Cell, vol.139, pp.945-956, 2009. ,
The Corneal Stroma Is Endowed with a Significant Number of Resident Dendritic Cells, Invest. Ophthalmol. Vis. Sci, vol.44, pp.581-589, 2003. ,
Integration of BMP/Wnt signaling to control clonal growth of limbal epithelial progenitor cells by niche cells, Stem Cell Res, vol.12, pp.562-573, 2014. ,
Pathogenesis and treatments of TGFBI corneal dystrophies, Prog. Retin. Eye Res, vol.50, pp.67-88, 2016. ,
Pineal Hypoplasia, Reduced Melatonin, and Sleep Disturbance in Patients with PAX6 Haploinsufficiency, J. Sleep Res, vol.25, pp.16-22, 2016. ,
Cell turnover in the adult human eye, Arch. Ophthalmol. Chic. Ill, vol.65, pp.695-698, 1960. ,
Pax6: more than meets the eye, Trends Genet, vol.11, pp.268-272, 1995. ,
Molecular dissection of Pax6 function: the specific roles of the paired domain and homeodomain in brain development, Development, vol.131, pp.6131-6140, 2004. ,
Stem cell-based therapy for treating limbal stem cells deficiency: A review of different strategies, Saudi J. Ophthalmol, vol.28, pp.188-194, 2014. ,
Erratum: Glial cells generate neurons: the role of the transcription factor Pax6, Nat. Neurosci, vol.5, pp.308-315, 2002. ,
Melanocytes in the corneal limbus interact with K19-positive basal epithelial cells, Exp. Eye Res, vol.81, pp.218-223, 2005. ,
Mouse Small eye results from mutations in a pairedlike homeobox-containing gene, Nature, vol.354, pp.522-525, 1991. ,
Detailed Ophthalmologic Evaluation of 43 Individuals with PAX6 Mutations, Investig. Opthalmology Vis. Sci, vol.50, p.2581, 2009. ,
, Aniridia. Eur. J. Hum. Genet, vol.20, pp.1011-1017, 2012.
A probable case of the homozygous condition of the aniridia gene, J. Med. Genet, vol.17, pp.478-480, 1980. ,
Small eyes (Sey): a homozygous lethal mutation on chromosome 2 which affects the differentiation of both lens and nasal placodes in the mouse, J. Embryol. Exp. Morphol, vol.97, pp.95-110, 1986. ,
Evolution of homeobox genes, Wiley Interdiscip. Rev. Dev. Biol, vol.2, pp.31-45, 2013. ,
Classification and nomenclature of all human homeobox genes, BMC Biol, vol.5, p.47, 2007. ,
Mechanisms of immune privilege in the anterior segment of the eye: what we learn from corneal transplantation, J. Ocul. Biol. Dis. Infor, vol.1, pp.94-100, 2008. ,
Cloning and characterization of canine PAX6 and evaluation as a candidate gene in a canine model of aniridia, Mol. Vis, vol.13, pp.431-442, 2007. ,
, , 2013.
Congenital Aniridia and the Ocular Surface, Ocul. Surf, vol.14, pp.196-206, 2016. ,
Melanocytes and Iris Color: Electron Microscopic Findings, Arch. Ophthalmol, vol.114, pp.443-447, 1996. ,
The color of the human eye: A review of morphologic correlates and of some conditions that affect iridial pigmentation, Surv. Ophthalmol, vol.41, pp.117-123, 1997. ,
Nucleotide sequence of the iap gene, responsible for alkaline phosphatase isozyme conversion in Escherichia coli, and identification of the gene product, J. Bacteriol, vol.169, pp.5429-5433, 1987. ,
Structure and composition of Bowman's membrane. Study by frozen resin cracking, Acta Ophthalmol. (Copenh.), vol.62, pp.39-53, 1984. ,
Stevens-Johnson syndrome: The role of an ophthalmologist, Surv. Ophthalmol, vol.61, pp.369-399, 2016. ,
Identification of genes that are associated with DNA repeats in prokaryotes, Mol. Microbiol, vol.43, pp.1565-1575, 2002. ,
Cell-penetrating peptides-A brief introduction, Biochim. Biophys. Acta BBA -Biomembr, vol.1758, pp.260-263, 2006. ,
Association of Aniridia and Dry Eyes, Ophthalmology, vol.112, pp.1535-1540, 2005. ,
The cellular basis of corneal transparency: evidence for "corneal crystallins, J. Cell Sci, vol.112, pp.613-622, 1999. ,
Tumor imaging by means of proteolytic activation of cell-penetrating peptides, Proc. Natl. Acad. Sci, vol.101, pp.17867-17872, 2004. ,
A Programmable Dual-RNA-Guided DNA Endonuclease in Adaptive Bacterial Immunity, Science, vol.337, pp.816-821, 2012. ,
Transduction peptides: from technology to physiology, Nat. Cell Biol, vol.6, pp.189-196, 2004. ,
Antennapedia homeobox peptide regulates neural morphogenesis, Proc. Natl. Acad. Sci, vol.88, pp.1864-1868, 1991. ,
Identification of a signal sequence necessary for the unconventional secretion of Engrailed homeoprotein, Curr. Biol, vol.8, pp.856-863, 1998. ,
Macropinocytosis: searching for an endocytic identity and role in the uptake of cell penetrating peptides, J. Cell. Mol. Med, vol.11, pp.670-684, 2007. ,
The tenascin family of ECM glycoproteins: Structure, function, and regulation during embryonic development and tissue remodeling, Dev. Dyn, vol.218, pp.235-259, 2000. ,
Cooperative interactions between paired domain and homeodomain, Dev. Camb. Engl, vol.122, pp.2639-2650, 1996. ,
Keratin 12-deficient mice have fragile corneal epithelia, Invest. Ophthalmol. Vis. Sci, vol.37, pp.2572-2584, 1996. ,
Anatomy and Function of the Eye, KARGER), pp.4-10, 2007. ,
Programmable DNA cleavage in vitro by Cas9, Biochem. Soc. Trans, vol.41, pp.1401-1406, 2013. ,
Patterns of cytokeratins and vimentin in guinea pig and mouse eye tissue: evidence for regional variations in intermediate filament expression in limbal epithelium, Acta Histochem, vol.93, pp.319-332, 1992. ,
Isotype controls in the analysis of lymphocytes and CD34+ stem and progenitor cells by flow cytometry?time to let go, Cytometry, vol.34, pp.280-283, 1998. ,
Limbal Allograft Transplantation for Ocular Surface Disorders, Ophthalmology, vol.102, pp.101-102, 1995. ,
Limbal Autograft Transplantation for Ocular Surface Disorders, Ophthalmology, vol.96, pp.709-723, 1989. ,
Ataluren for the treatment of nonsensemutation cystic fibrosis: a randomised, double-blind, Lancet Respir. Med, vol.2, pp.539-547, 2014. ,
Heterozygous FOXC1 Mutation (M161K) Associated with Congenital Glaucoma and Aniridia in an Infant and a Milder Phenotype in Her Mother, Ophthalmic Genet, vol.29, pp.67-71, 2008. ,
Molecular Characterization of Newborn Glaucoma Including a Distinct Aniridic Phenotype, Ophthalmic Genet, vol.32, pp.138-142, 2011. ,
A guide to genome engineering with programmable nucleases, Nat. Rev. Genet, vol.15, pp.321-334, 2014. ,
Analysis of Pax6 expression using a BAC transgene reveals the presence of a paired-less isoform of Pax6 in the eye and olfactory bulb, Dev. Biol, vol.292, pp.486-505, 2006. ,
Overexpression of pairedless Pax6 in the retina disrupts corneal development and affects lens cell survival, Dev. Biol, vol.313, pp.434-454, 2008. ,
Generation of Human Induced Pluripotent Stem Cells by Direct Delivery of Reprogramming Proteins, Cell Stem Cell, vol.4, pp.472-476, 2009. ,
, , 2015.
, Digenome-seq: genome-wide profiling of CRISPR-Cas9 off-target effects in human cells, Nat. Methods, vol.12, pp.237-243
Hybrid restriction enzymes: zinc finger fusions to Fok I cleavage domain, Proc. Natl. Acad. Sci, vol.93, pp.1156-1160, 1996. ,
Homeodomain-interacting Protein Kinases, a Novel Family of Co-repressors for Homeodomain Transcription Factors, J. Biol. Chem, vol.273, pp.25875-25879, 1998. ,
3T3 Cell Lines Stably Expressing Pax6 or Pax6(5a) -A New Tool Used for Identification of Common and Isoform Specific Target Genes, PLoS ONE, vol.7, 2012. ,
PAX6 regulates human corneal epithelium cell identity, Exp. Eye Res, vol.154, pp.30-38, 2017. ,
Analysis of FOXD3 sequence variation in human ocular disease, Mol. Vis, vol.18, pp.1740-1749, 2012. ,
Demonstration of cornea Dua's layer at a deep anterior lamellar keratoplasty surgery, Oman J. Ophthalmol, vol.9, pp.179-181, 2016. ,
Clinical and molecular aspects of aniridia, Clin. Genet, vol.77, pp.409-420, 2010. ,
The Pax-6 homeobox gene is expressed throughout the corneal and conjunctival epithelia, Invest. Ophthalmol. Vis. Sci, vol.38, pp.108-120, 1997. ,
Alternatively spliced insertions in the paired domain restrict the DNA sequence specificity of Pax6 and Pax8, EMBO J, vol.16, pp.6793-6803, 1997. ,
Zebrafish pax[zfa]: a paired box-containing gene expressed in the neural tube, EMBO J, vol.10, pp.3609-3619, 1991. ,
Applications and Challenges for Use of Cell-Penetrating Peptides as Delivery Vectors for Peptide and Protein Cargos, Int. J. Mol. Sci, vol.17, 2016. ,
ABCB5 is a limbal stem cell gene required for corneal development and repair, Nature, vol.511, pp.353-357, 2014. ,
Cell Surface Glycoconjugate Abnormalities and Corneal Epithelial Wound Healing in the Pax6+/? Mouse Model of Aniridia-Related Keratopathy, Invest. Ophthalmol. Vis. Sci, vol.47, pp.5276-5282, 2006. ,
Toll-like receptor 2-mediated expression of ?-defensin-2 in human corneal epithelial cells, Microbes Infect. Inst. Pasteur, vol.8, pp.380-389, 2006. ,
In Vivo Morphology of the Limbal Palisades of Vogt Correlates With Progressive Stem Cell Deficiency in Aniridia-Related Keratopathy, Invest. Ophthalmol. Vis. Sci, vol.54, pp.5333-5342, 2013. ,
Stagerelated central corneal epithelial transformation in congenital aniridia-associated keratopathy, Ocul. Surf, vol.16, pp.163-172, 2018. ,
The Level of Inflammatory Tear Cytokines is Elevated in Congenital Aniridia and Associated with Meibomian Gland Dysfunction, Invest. Ophthalmol. Vis. Sci, vol.59, pp.2197-2204, 2018. ,
Human aniridia limbal epithelial cells lack expression of keratins K3 and K12, Exp. Eye Res, vol.167, pp.100-109, 2018. ,
Engrailed homeoprotein acts as a signaling molecule in the developing fly, Development, vol.138, pp.2315-2323, 2011. ,
Cell penetrating peptide conjugates of steric block oligonucleotides, Adv. Drug Deliv. Rev, vol.60, pp.517-529, 2008. ,
URL : https://hal.archives-ouvertes.fr/hal-00202865
A Review of the Clinical and Genetic Aspects of Aniridia, Semin. Ophthalmol, vol.28, pp.306-312, 2013. ,
Aniridia: current pathology and management, Acta Ophthalmol. (Copenh.), vol.86, pp.708-715, 2008. ,
Corneal Abnormalities in Congenital Aniridia: Congenital Central Corneal Opacity Versus Aniridia-associated Keratopathy, Am. J. Ophthalmol, vol.185, pp.75-80, 2018. ,
,
, O-glycosylation of the nuclear forms of Pax-6 products in quail neuroretina cells, J. Cell. Biochem, vol.85, pp.208-218
Strategies of epithelial repair: modulation of stem cell and transit amplifying cell proliferation, J. Cell Sci, vol.111, pp.2867-2875, 1998. ,
The roles of calcium signaling and ERK1/2 phosphorylation in a Pax6+/-mouse model of epithelial wound-healing delay, BMC Biol, vol.14, 2006. ,
Direct non-cell autonomous Pax6 activity regulates eye development in the zebrafish, 2007. ,
, , 2005.
,
, Transcription Factor PAX6 (Paired Box 6) Controls Limbal Stem Cell Lineage in Development and Disease, J. Biol. Chem, vol.290, pp.20448-20454
Niche regulation of corneal epithelial stem cells at the limbus, Cell Res, vol.17, pp.26-36, 2007. ,
Down-regulation of Pax6 is associated with abnormal differentiation of corneal epithelial cells in severe ocular surface diseases, J. Pathol, vol.214, pp.114-122, 2008. ,
, , 2015.
, CRISPR/Cas9-mediated gene editing in human tripronuclear zygotes, Protein Cell, vol.6, pp.363-372
Correction of ?-thalassemia mutant by base editor in human embryos, Protein Cell, vol.8, pp.811-822, 2017. ,
PAX6 aniridia syndrome: clinics, genetics, and therapeutics, Curr. Opin. Ophthalmol, vol.28, pp.436-447, 2017. ,
Corneal Epithelial Wound Healing, Progress in Molecular Biology and Translational Science, pp.61-71, 2015. ,
Corneal Epithelium-specific Mouse Keratin K12 Promoter, Exp. Eye Res, vol.68, pp.295-301, 1999. ,
, , 1995.
, Human corneal basement membrane heterogeneity: topographical differences in the expression of type IV collagen and laminin isoforms, Lab. Investig. J. Tech. Methods Pathol, vol.72, pp.461-473
Nonapoptotic desquamation of cells from corneal epithelium: Putative role for Muc4/sialomucin complex in cell release and survival, J. Cell. Physiol, vol.202, pp.115-124, 2005. ,
, Arch. Soc. Espanola Oftalmol, vol.80, pp.517-523, 2005.
Autologous Serum Eyedrops in the Treatment of Aniridic Keratopathy, Ophthalmology, vol.115, pp.262-267, 2008. ,
Corneal Development: Different Cells from a Common Progenitor, Prog. Mol. Biol. Transl. Sci, vol.134, pp.43-59, 2015. ,
The Evolution of Eyes, Annu. Rev. Neurosci, vol.15, pp.1-29, 1992. ,
, , 2016.
, Multiplexed labeling of genomic loci with dCas9 and engineered sgRNAs using CRISPRainbow, Nat. Biotechnol, vol.34, pp.528-530
Correction of a pathogenic gene mutation in human embryos, Nature, vol.548, pp.413-419, 2017. ,
Reconstruction of Chemically Burned Rat Corneal Surface by Bone Marrow-Derived Human Mesenchymal Stem Cells, STEM CELLS, vol.24, pp.315-321, 2006. ,
Genome modification by CRISPR/Cas9, FEBS J, vol.281, pp.5186-5193, 2014. ,
Corneal Changes in Aniridia, Am. J. Ophthalmol, vol.87, pp.497-502, 1979. ,
Mechanisms of Cellular Uptake of Cell-Penetrating Peptides, J. Biophys, 2011. ,
Oligopotent stem cells are distributed throughout the mammalian ocular surface, Nature, vol.456, pp.250-254, 2008. ,
A DNA repair system specific for thermophilic Archaea and bacteria predicted by genomic context analysis, Nucleic Acids Res, vol.30, pp.482-496, 2002. ,
A putative RNAinterference-based immune system in prokaryotes: computational analysis of the predicted enzymatic machinery, functional analogies with eukaryotic RNAi, and hypothetical mechanisms of action, Biol. Direct, vol.1, p.7, 2006. ,
Evolution and classification of the CRISPR-Cas systems, Nat. Rev. Microbiol, vol.9, pp.467-477, 2011. ,
Controlled overexpression of Pax6 in vivo negatively autoregulates the Pax6 locus, causing cell-autonomous defects of late cortical progenitor proliferation with little effect on cortical arealization, Dev. Camb. Engl, vol.134, pp.545-555, 2007. ,
Anatomy of the human corneal innervation, Exp. Eye Res, vol.90, pp.478-492, 2010. ,
Congenital aniridia: a histopathologic study of the anterior segment in children, J. Pediatr. Ophthalmol. Strabismus, vol.20, pp.192-198, 1983. ,
, , 2001.
, Pax6 is required for the multipotent state of retinal progenitor cells, Cell, vol.105, pp.43-55
Characterization of a paired box-and homeobox-containing quail gene (Pax-QNR) expressed in the neuroretina, Oncogene, vol.7, pp.1721-1728, 1992. ,
Stem cells of the corneal epithelium lack connexins and metabolite transfer capacity, Differentiation, vol.61, pp.251-260, 1997. ,
A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells, Nat. Genet, vol.3, pp.299-304, 1993. ,
Retinoic acid-dependent eye morphogenesis is orchestrated by neural crest cells, Development, vol.132, pp.4789-4800, 2005. ,
URL : https://hal.archives-ouvertes.fr/hal-00187693
The structure and transparency of the cornea, J. Physiol, vol.136, pp.263-286, 1957. ,
Keratopathy in Congenital Aniridia, Ocul. Surf, vol.1, pp.74-79, 2003. ,
Aniridia and optic nerve hypoplasia, Eye, vol.19, pp.762-764, 2005. ,
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, Lancet Lond. Engl, vol.390, pp.1489-1498, 2017. ,
Molecular mechanisms of keratinizing ocular surface disease, Optom. Vis. Sci. Off. Publ. Am. Acad. Optom, vol.87, pp.233-238, 2010. ,
Immunity to Homologous Grafted Skin. III. The Fate of Skin Homographs Transplanted to the Brain, to Subcutaneous Tissue, and to the Anterior Chamber of the Eye, Br. J. Exp. Pathol, vol.29, pp.58-69, 1948. ,
Transparency, swelling and scarring in the corneal stroma, Eye Lond. Engl, vol.17, pp.927-936, 2003. ,
A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma, PloS One, vol.11, 2016. ,
Phosphorylation of the Transactivation Domain of Pax6 by Extracellular Signal-regulated Kinase and p38 Mitogenactivated Protein Kinase, J. Biol. Chem, vol.274, pp.15115-15126, 1999. ,
, N. Engl. J. Med, vol.270, pp.922-927, 1964.
PAX6, Paired Domain Influences Sequence Recognition by the Homeodomain, J. Biol. Chem, vol.277, pp.49488-49494, 2002. ,
Evaluation of ocular surface glycocalyx using lectin-conjugated fluorescein, Clin. Ophthalmol. Auckl. NZ, vol.4, pp.925-930, 2010. ,
Matrix Metalloproteinase Gelatinase B (MMP-9) Coordinates and Effects Epithelial Regeneration, J. Biol. Chem, vol.277, pp.2065-2072, 2002. ,
Corneal endothelial wound repair in normal and mitotically inhibited cultures, Graefes Arch. Clin. Exp. Ophthalmol, vol.233, pp.727-736, 1995. ,
Transcription at different salinities of Haloferax mediterranei sequences adjacent to partially modified PstI sites, Mol. Microbiol, vol.9, pp.613-621, 1993. ,
Intervening Sequences of Regularly Spaced Prokaryotic Repeats Derive from Foreign Genetic Elements, J. Mol. Evol, vol.60, pp.174-182, 2005. ,
Cell-penetrating peptides: from molecular mechanisms to therapeutics, Biol. Cell, vol.100, pp.201-217, 2008. ,
URL : https://hal.archives-ouvertes.fr/hal-00351046
Effects of Aberrant Pax6 Gene Dosage on Mouse Corneal Pathophysiology and Corneal Epithelial Homeostasis, PLoS ONE, vol.6, 2011. ,
The Ocular Surface and How It Can Influence the Outcomes of Keratoprosthesis, Curr. Ophthalmol. Rep, vol.4, pp.220-225, 2016. ,
A Comprehensive Classification and Evolutionary Analysis of Plant Homeobox Genes, Mol. Biol. Evol, vol.26, pp.2775-2794, 2009. ,
More Details on Dua's Layer of the, Cornea. Rev. Optom, vol.150, pp.4-6, 2013. ,
Prenatal and postnatal growth of the human Descemet's membrane, Invest Ophthalmol Vis Sci, vol.25, pp.1402-1415, 1984. ,
Centripetal Movement of Corneal Epithelial Cells in the Normal Adult Mouse, Invest. Ophthalmol. Vis. Sci, vol.44, pp.558-566, 2003. ,
, , 2004.
, Transplantation of cultivated autologous oral mucosal epithelial cells in patients with severe ocular surface disorders, Br. J. Ophthalmol, vol.88, pp.1280-1284
Wnt/?-Catenin Signaling Regulates Proliferation of Human Cornea Epithelial Stem/Progenitor Cells, Invest. Ophthalmol. Vis. Sci, vol.52, pp.4734-4741, 2011. ,
Xenopus pax6 mutants affect eye development and other organ systems, and have phenotypic similarities to human aniridia patients, Dev. Biol, vol.408, pp.328-344, 2015. ,
A novel mutation in the alternative splice region of the PAX6 gene in a patient with Peters' anomaly, Br. J. Ophthalmol, vol.88, pp.720-721, 2004. ,
Corneal-Committed Cells Restore the Stem Cell Pool and Tissue Boundary following Injury, Cell Rep, vol.22, pp.323-331, 2018. ,
Regulation of Human PAX6 Expression by miR-7, Evol. Bioinforma, vol.10, 2014. ,
, Aniridia. A review. Surv. Ophthalmol, vol.28, pp.621-642, 1984.
Ocular and systemic findings in a survey of aniridia subjects, J. Am. Assoc. Pediatr. Ophthalmol. Strabismus, vol.15, pp.562-566, 2011. ,
Syndrome of partial aniridia, cerebellar ataxia, and mental retardation-Gillespie syndrome, Am. J. Med. Genet, vol.35, pp.468-469, 1990. ,
Phagocytosis of particulate antigens by corneal epithelial cells stimulates interleukin-1 secretion and migration of Langerhans cells into the central cornea, Reg. Immunol, vol.2, pp.83-90, 1989. ,
A comparison of stem cell-related gene expression in the progenitor-rich limbal epithelium and the differentiating central corneal epithelium, 2011. ,
The Transcription Factor Pax6 Regulates Survival of Dopaminergic Olfactory Bulb Neurons via Crystallin ?A, Neuron, vol.68, pp.682-694, 2010. ,
RNA codewords and protein synthesis, VII. On the general nature of the RNA code, Proc. Natl. Acad. Sci, vol.53, pp.1161-1168, 1965. ,
A case of novel de novo paired box gene 6 (PAX6) mutation with early-onset diabetes mellitus and aniridia, Diabet. Med, vol.22, pp.641-644, 2005. ,
Ocular Surface Abnormalities in Aniridia, Am. J. Ophthalmol, vol.120, pp.368-375, 1995. ,
PAX6 expression in the developing human eye, Br. J. Ophthalmol, vol.83, pp.723-727, 1999. ,
Generation of Gene-Modified Cynomolgus Monkey via Cas9/RNA-Mediated Gene Targeting in One-Cell Embryos, Cell, vol.156, pp.836-843, 2014. ,
Evolution and role of Pax genes, Curr. Opin. Genet. Dev, vol.3, pp.595-605, 1993. ,
In sickness and in health: Corneal epithelial stem cell biology, pathology and therapy. Exp. Eye Res, vol.90, pp.188-195, 2010. ,
IL6 and the human limbal stem cell niche: A mediator of epithelial-stromal interaction, Stem Cell Res, vol.5, pp.188-200, 2010. ,
In Vivo Confocal Microscopy in Diagnosis of Limbal Stem Cell Deficiency, Am. J. Ophthalmol, vol.155, pp.220-232, 2013. ,
Redesign of aminoglycosides for treatment of human genetic diseases caused by premature stop mutations, Bioorg. Med. Chem. Lett, vol.16, pp.6310-6315, 2006. ,
Generation of germline-competent induced pluripotent stem cells, Nature, vol.448, pp.313-317, 2007. ,
Regulation of PAX-6 gene transcription: alternate promoter usage in human brain, Mol. Brain Res, vol.60, pp.177-192, 1998. ,
Limbal stem cells, a review of their identification and culture for clinical use, Cytotechnology, vol.53, pp.101-106, 2007. ,
Pax-6 is involved in the specification of hindbrain motor neuron subtype, Development, vol.124, pp.2961-2972, 1997. ,
Genome-wide p63-regulated gene expression in differentiating epidermal keratinocytes, Genomics Data, vol.5, pp.159-163, 2015. ,
Chronic wound state exacerbated by oxidative stress in Pax6+/-aniridia-related keratopathy, J. Pathol, vol.215, pp.421-430, 2008. ,
,
, WNT7A and PAX6 define corneal epithelium homeostasis and pathogenesis, Nature, vol.511, pp.358-361
ABCG2 Transporter Identifies a Population of Clonogenic Human Limbal Epithelial Cells, Stem Cells Dayt. Ohio, vol.23, pp.63-73, 2005. ,
Peptide degradation is a critical determinant for cell-penetrating peptide uptake, Biochim. Biophys. Acta, vol.1768, pp.1769-1776, 2007. ,
PAX6 Alternative Splicing and Corneal Development, Stem Cells Dev, vol.27, pp.367-377, 2018. ,
Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: identification of four novel mutations, Mol. Vis, vol.18, pp.488-494, 2012. ,
Transdifferentiation of corneal epithelium into epidermis occurs by means of a multistep process triggered by dermal developmental signals, Proc. Natl. Acad. Sci, vol.102, pp.3714-3719, 2005. ,
Color Vision in Aniridia, Invest. Ophthalmol. Vis. Sci, vol.59, pp.2142-2152, 2018. ,
Longterm restoration of damaged corneal surfaces with autologous cultivated corneal epithelium, The Lancet, vol.349, pp.990-993, 1997. ,
p63 identifies keratinocyte stem cells, Proc. Natl. Acad. Sci. U. S. A, vol.98, pp.3156-3161, 2001. ,
Regulation of the Pax6 : Pax6(5a) mRNA ratio in the developing mammalian brain, BMC Dev. Biol, vol.5, p.13, 2005. ,
Positive autoregulation of the transcription factor Pax6 in response to increased levels of either of its major isoforms, Pax6 or Pax6(5a), in cultured cells, BMC Dev. Biol, vol.9, 2006. ,
Quail Pax-6 (Pax-QNR) mRNAs are expressed from two promoters used differentially during retina development and neuronal differentiation, Mol. Cell. Biol, vol.15, pp.3344-3353, 1995. ,
Identification and characterization of a neuroretina-specific enhancer element in the quail Pax-6 (Pax-QNR) gene, Mol. Cell. Biol, vol.15, pp.892-903, 1995. ,
Postnatal signalling with homeoprotein transcription factors, Phil Trans R Soc B, vol.369, 2014. ,
URL : https://hal.archives-ouvertes.fr/hal-02156814
, Neural Surface Antigens: From Basic Biology Towards Biomedical Applications, 2015.
Cytologlogic Evidence of Corneal Diseases with Limbal Stem Cell Deficiency, Ophthalmology, vol.102, pp.1476-1485, 1995. ,
The Boston keratoprosthesis type II: the Massachusetts Eye and Ear Infirmary experience, Cornea, vol.30, pp.1298-1303, 2011. ,
Novel small-eye allele in paired box gene 6 (Pax6) is caused by a point mutation in intron 7 and creates a new exon, Mol. Vis, vol.19, pp.877-884, 2013. ,
Multiple functions for Pax6 in mouse eye and nasal development, Genes Dev, vol.10, pp.435-446, 1996. ,
Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans, Science, vol.265, pp.785-789, 1994. ,
Dosage requirement and allelic expression of PAX6 during lens placode formation, Dev. Camb. Engl, vol.127, pp.5439-5448, 2000. ,
Clonogenic Assay: Adherent Cells, J. Vis. Exp. JoVE, 2011. ,
The Ocular Surface in Aniridia, pp.45-52, 2015. ,
Evolving concepts on the pathogenic mechanisms of aniridia related keratopathy, Int. J. Biochem. Cell Biol, vol.37, pp.547-557, 2005. ,
, , 2003.
, Corneal Abnormalities in Pax6 +/? Small Eye Mice Mimic Human Aniridia-Related Keratopathy, Investig. Opthalmology Vis. Sci, vol.44, p.1871
Developmental and cellular factors underlying corneal epithelial dysgenesis in the Pax6+/? mouse model of aniridia, Exp. Eye Res, vol.81, pp.224-235, 2005. ,
, , 2006.
, Increased Apoptosis and Abnormal Wound-Healing Responses in the Heterozygous Pax6 +/? Mouse Cornea, Investig. Opthalmology Vis. Sci, vol.47, 1911.
Control of brain patterning by Engrailed paracrine transfer: a new function of the Pbx interaction domain, Development, vol.142, pp.1840-1849, 2015. ,
Stem Cell Engineering and Differentiation for Disease Modeling and Cell-based Therapies, AIMS Cell Tissue Eng, vol.1, pp.140-157, 2017. ,
The retinal pigmented epithelium is required for development and maintenance of the mouse neural retina, Curr. Biol, vol.5, pp.1286-1295, 1995. ,
Pax genes: Master regulators of development and tissue homeostasis, Semin. Cell Dev. Biol, vol.44, pp.62-63, 2015. ,
Apoptosis in the corneal epithelium, Invest. Ophthalmol. Vis. Sci, vol.37, pp.1017-1025, 1996. ,
A Two-Stage, p16INK4A-and p53-Dependent Keratinocyte Senescence Mechanism That Limits Replicative Potential Independent of Telomere Status, Mol. Cell. Biol, vol.22, pp.5157-5172, 2002. ,
Arginine stimulates intestinal cell migration through a focal adhesion kinase dependent mechanism, Gut, vol.53, pp.514-522, 2004. ,
Aniridia, cataracts, and Wilms tumor, Am. J. Ophthalmol, vol.86, pp.577-579, 1978. ,
Cellular Uptake of Unconjugated TAT Peptide Involves Clathrin-dependent Endocytosis and Heparan Sulfate Receptors, J. Biol. Chem, vol.280, pp.15300-15306, 2005. ,
Mechanism and evidence of nonsense suppression therapy for genetic eye disorders, Exp. Eye Res, vol.155, pp.24-37, 2017. ,
Small eyes-a new dominant eye mutant in the mouse, Genet. Res, vol.9, p.121, 1967. ,
Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia, Am. J. Med. Genet. A, vol.146, pp.558-569, 2008. ,
A PANorama of PAX genes in cancer and development, Nat. Rev. Cancer, vol.6, pp.52-62, 2006. ,
Role of Membrane Potential and Hydrogen Bonding in the Mechanism of Translocation of Guanidinium-Rich Peptides into Cells, J. Am. Chem. Soc, vol.126, pp.9506-9507, 2004. ,
Introduction of double-strand breaks into the genome of mouse cells by expression of a rare-cutting endonuclease, Mol. Cell. Biol, vol.14, pp.8096-8106, 1994. ,
The metabolically-modulated stem cell niche: a dynamic scenario regulating cancer cell phenotype and resistance to therapy, Cell Cycle, vol.13, pp.3169-3175, 2014. ,
Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression, Proc. Natl. Acad. Sci, vol.113, pp.12508-12513, 2016. ,
Congenital Aniridia, Trans. Am. Ophthalmol. Soc, vol.24, pp.332-341, 1926. ,
Genetic analysis reveals that PAX6 is required for normal transcription of pancreatic hormone genes and islet development, Genes Dev, vol.11, pp.1662-1673, 1997. ,
Cell kinetics of conjunctival and corneal epithelium during regeneration of different-sized corneal epithelial defects, Acta Ophthalmol. (Copenh.), vol.72, pp.43-48, 1994. ,
Simple limbal epithelial transplantation (SLET): a novel surgical technique for the treatment of unilateral limbal stem cell deficiency, Br. J. Ophthalmol, vol.96, pp.931-934, 2012. ,
The Streptococcus thermophilus CRISPR/Cas system provides immunity in Escherichia coli, Nucleic Acids Res, vol.39, pp.9275-9282, 2011. ,
PAX6 Isoforms, along with Reprogramming Factors, Differentially Regulate the Induction of Cornea-specific, Genes. Sci. Rep, vol.6, p.20807, 2016. ,
Influence of PAX6 Gene Dosage on Development: Overexpression Causes Severe Eye Abnormalities, Cell, vol.86, pp.71-82, 1996. ,
Differentiation-related expression of a major 64K corneal keratin in vivo and in culture suggests limbal location of corneal epithelial stem cells, J. Cell Biol, vol.103, pp.49-62, 1986. ,
Identification and characterization of limbal stem cells, Exp. Eye Res, vol.81, pp.247-264, 2005. ,
Characterization of extracellular matrix components in the limbal epithelial stem cell compartment, Exp. Eye Res, vol.85, pp.845-860, 2007. ,
Defects of neuronal migration and the pathogenesis of cortical malformations are associated with Small eye (Sey) in the mouse, a point mutation at the Pax-6-locus, Acta Neuropathol. (Berl.), vol.86, pp.126-135, 1993. ,
D-TAT transporter as an ocular peptide delivery system, Clin. Experiment. Ophthalmol, vol.33, pp.628-635, 2005. ,
Corneal fibrotic wound repair, Br. J. Ophthalmol, vol.87, pp.1200-1200, 2003. ,
In Vivo Protein Transduction: Delivery of a Biologically Active Protein into the Mouse, Science, vol.285, pp.1569-1572, 1999. ,
Corneal Epithelial Stem Cells: Deficiency and Regulation, Stem Cell Rev, vol.4, pp.159-168, 2008. ,
, , 2014.
, Ophthalmol. Z. Dtsch. Ophthalmol. Ges, vol.111, pp.1164-1171
The Boston keratoprosthesis in the management of corneal limbal stem cell deficiency, Cornea, vol.30, pp.1187-1194, 2011. ,
Presentation, Diagnosis and Management of Limbal Stem Cell Deficiency, Middle East Afr. J. Ophthalmol, vol.20, pp.5-10, 2013. ,
A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD, Nat. Genet, vol.19, pp.167-170, 1998. ,
Forkhead box transcription factor FoxC1 preserves corneal transparency by regulating vascular growth, Proc. Natl. Acad. Sci. U. S. A, vol.109, 2012. ,
A re-evaluation of corneal development, Trans. Am. Ophthalmol. Soc, vol.86, p.178, 1988. ,
Enhanced skin permeation using polyarginine modified nanostructured lipid carriers, J. Control. Release Off. J. Control. Release Soc, vol.161, pp.735-745, 2012. ,
Pax6: A multi-level regulator of ocular development, Prog. Retin. Eye Res, vol.31, pp.351-376, 2012. ,
Pax6 Regulates Gene Expression in the Vertebrate Lens through miR-204, PLOS Genet, vol.9, p.1003357, 2013. ,
,
, Pluripotent Stem Cell Model Reveals Essential Roles for miR-450b-5p and miR-184 in Embryonic Corneal Lineage Specification, STEM CELLS, vol.30, pp.898-909
Congenital Aniridia, Am. J. Hum. Genet, vol.12, pp.389-415, 1960. ,
A survey on "Trojan Horse" peptides: Opportunities, issues and controlled entry to "Troy, J. Controlled Release, vol.194, pp.53-70, 2014. ,
Keratopathy, cataract, and dry eye in a survey of aniridia subjects, Clin. Ophthalmol. Auckl. NZ, vol.9, pp.291-295, 2015. ,
Transplantation of Ex Vivo Cultured Limbal Epithelial Stem Cells: A Review of Techniques and Clinical Results, Surv. Ophthalmol, vol.52, pp.483-502, 2007. ,
Corneal stem cells in the eye clinic, Br. Med. Bull, vol.100, pp.209-225, 2011. ,
Three-Year Outcomes of Cultured Limbal Epithelial Allografts in Aniridia and Stevens-Johnson Syndrome Evaluated Using the Clinical Outcome Assessment in Surgical, Trials Assessment Tool. STEM CELLS Transl. Med, vol.3, pp.265-275, 2014. ,
Soluble vascular endothelial growth factor receptor 3 is essential for corneal alymphaticity, Blood, vol.121, pp.4242-4249, 2013. ,
Modulation of PAX6 Homeodomain Function by the Paired Domain, J. Biol. Chem, vol.275, pp.17306-17313, 2000. ,
Iris hypoplasia in mice that lack the alternatively spliced Pax6(5a) isoform, Proc. Natl. Acad. Sci, vol.99, pp.6812-6815, 2002. ,
Science and Art of Cell-Based Ocular Surface Regeneration, Int. Rev. Cell Mol. Biol, p.319, 2015. ,
An eye on eye development, Mech. Dev, vol.130, pp.347-358, 2013. ,
PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans, Nat. Genet, vol.28, pp.214-216, 2001. ,
Pax-6 expression and activity are induced in the reepithelializing cornea and control activity of the transcriptional promoter for matrix metalloproteinase gelatinase B, Dev. Biol, vol.222, pp.41-54, 2000. ,
Transcription Factors Pax6 and AP-2? Interact To Coordinate Corneal Epithelial Repair by Controlling Expression of Matrix Metalloproteinase Gelatinase B, Mol. Cell. Biol, vol.24, pp.245-257, 2004. ,
A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia, Graefes Arch. Clin. Exp. Ophthalmol, vol.238, pp.552-558, 2000. ,
Homeoprotein Signaling in Development, Health, and Disease: A Shaking of Dogmas Offers Challenges and Promises from Bench to Bed, Pharmacol. Rev, vol.65, pp.90-104, 2013. ,
Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9, Nat. Genet, vol.3, pp.292-298, 1993. ,
The role of the lacrimal functional unit in the pathophysiology of dry eye, Exp. Eye Res, vol.78, pp.409-416, 2004. ,
The establishment and maintenance of corneal transparency, Prog. Retin. Eye Res, vol.14, pp.109-140, 1995. ,
Pax6 is required for differentiation of glucagon-producing ?-cells in mouse pancreas, Nature, vol.387, pp.406-409, 1997. ,
A Map of the Fourth Chromosome of Drosophila Melanogaster, Based on Crossing Over in Triploid Females, Proc. Natl. Acad. Sci. U. S. A, vol.37, pp.405-407, 1951. ,
Identification of neuron-related genes for cell therapy of neurological disorders by network analysis, J. Zhejiang Univ. Sci. B, vol.18, pp.172-182, 2017. ,
Coordinated Reassembly of the Basement Membrane and Junctional Proteins during Corneal Epithelial Wound Healing, vol.41, p.6, 2000. ,
Structurebased redesign of the dimerization interface reduces the toxicity of zinc-finger nucleases, Nat. Biotechnol, vol.25, pp.786-793, 2007. ,
The X, Y, Z hypothesis of corneal epithelial maintenance, Invest. Ophthalmol. Vis. Sci, vol.24, pp.1442-1443, 1983. ,
Cognitive functioning in humans with mutations of the PAX6 gene, Neurology, vol.62, pp.1216-1218, 2004. ,
Uptake of analogs of penetratin, Tat(48-60) and oligoarginine in live cells, Biochem. Biophys. Res. Commun, vol.307, pp.100-107, 2003. ,
Estimation of methods of protein delivery into mammalian cells -A comparative study by electroporation and Bioporter assay, Appl. Biochem. Microbiol, vol.45, pp.444-448, 2009. ,
Positional cloning and characterization of a paired box-and homeobox-containing gene from the aniridia region, Cell, vol.67, pp.1059-1074, 1991. ,
Homeodomain proteins and eukaryotic translation initiation factor 4E (eIF4E): an unexpected relationship, Histol. Histopathol, vol.20, pp.1275-1284, 2005. ,
The corneal epithelial basement membrane: structure, function, and disease, Invest. Ophthalmol. Vis. Sci, vol.54, pp.6390-6400, 2013. ,
Aniridia with Preserved Visual Function: A Report of Four Cases with No Mutations in PAX6, Am. J. Ophthalmol, vol.145, pp.760-764, 2008. ,
Cell-penetrating Peptides as Nucleic Acid Delivery Systems: From Biophysics to Biological Applications, Curr. Pharm. Des, vol.19, pp.2895-2923, 2013. ,
Cranial paraxial mesoderm and neural crest cells of the mouse embryo: co-distribution in the craniofacial mesenchyme but distinct segregation in branchial arches, Development, vol.121, pp.2569-2582, 1995. ,
Effects of PAX6 mutations on retinal function: an electroretinographic study, Am. J. Ophthalmol, vol.126, pp.211-218, 1998. ,
The Key Role of Insulin-Like Growth Factor I in Limbal Stem Cell Differentiation and the Corneal Wound-Healing Process, Stem Cells Dev, vol.21, pp.3341-3350, 2012. ,
Reconstruction of damaged corneas by transplantation of autologous limbal epithelial cells, N. Engl. J. Med, vol.343, pp.86-93, 2000. ,
Concept and application of limbal stem cells, Eye, vol.3, pp.141-157, 1989. ,
Goblet cell density and vascularization during conjunctival transdifferentiation, Invest. Ophthalmol. Vis. Sci, vol.25, pp.1168-1176, 1984. ,
Amniotic Membrane Transplantation With or Without Limbal Allografts for Corneal Surface Reconstruction in Patients With Limbal Stem Cell Deficiency, Arch. Ophthalmol, vol.116, pp.431-441, 1998. ,
Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations, Eur. J. Hum. Genet, vol.17, pp.1527-1539, 2009. ,
, , 2006.
, Cargo-dependent mode of uptake and bioavailability of TAT-containing proteins and peptides in living cells, FASEB J, vol.20, pp.1775-1784
Trim11 modulates the function of neurogenic transcription factor Pax6 through ubiquitin-proteosome system, Genes Dev, vol.22, pp.1972-1986, 2008. ,
The immunohistochemical composition of corneal basement membrane in keratoconus, Curr. Eye Res, vol.16, pp.792-801, 1997. ,
PAX6 mutations: genotype-phenotype correlations, BMC Genet, vol.12, 2005. ,
On the analysis of clonogenic survival data: Statistical alternatives to the linear-quadratic model, Radiat. Oncol, vol.11, p.11, 2016. ,
Ocular and nonocular findings in patients with aniridia, Can. J. Ophthalmol. J. Can. Ophtalmol, vol.39, pp.632-638, 2004. ,
The anatomy of the limbus, Eye, vol.3, pp.101-108, 1989. ,
Lymphocytes and Langerhans cells in the normal human cornea, Invest. Ophthalmol. Vis. Sci, vol.26, pp.220-225, 1985. ,
Autologous simple limbal epithelial transplantation for unilateral limbal stem cell deficiency: multicentre results, Br. J. Ophthalmol, vol.100, pp.1416-1420, 2016. ,
Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects, Eur. J. Hum. Genet, vol.11, pp.163-169, 2003. ,
A Truncated HIV-1 Tat Protein Basic Domain Rapidly Translocates through the Plasma Membrane and Accumulates in the Cell Nucleus, J. Biol. Chem, vol.272, pp.16010-16017, 1997. ,
Cell-penetrating and cell-targeting peptides in drug delivery, Biochim. Biophys. Acta BBA -Rev. Cancer, vol.1786, pp.126-138, 2008. ,
Pax-6, a murine paired box gene, is expressed in the developing CNS, Dev. Camb. Engl, vol.113, pp.1435-1449, 1991. ,
Characteristics and Management of Patients With Boston Type 1 Keratoprosthesis Explantation-the University of Montreal Hospital Center Experience, Am. J. Ophthalmol, vol.158, pp.1297-1304, 2014. ,
The role of Upf proteins in modulating the translation read-through of nonsense-containing transcripts, EMBO J, vol.20, pp.880-890, 2001. ,
Efficacy of Postnatal In Vivo Nonsense Suppression Therapy in a Pax6 Mouse Model of Aniridia, Mol. Ther. -Nucleic Acids, vol.7, pp.417-428, 2017. ,
Role of the extracellular matrix in regulating stem cell fate, Nat. Rev. Mol. Cell Biol, vol.14, pp.467-473, 2013. ,
PTC124 targets genetic disorders caused by nonsense mutations, Nature, vol.447, pp.87-91, 2007. ,
The keratocyte: Corneal stromal cell with variable repair phenotypes, Int. J. Biochem. Cell Biol, vol.38, pp.1625-1631, 2006. ,
Corneal blindness: a global perspective, Bull. World Health Organ, vol.79, pp.214-221, 2001. ,
Central Corneal Thickness in Patients With Congenital Aniridia, Eye Contact Lens Sci. Clin. Pract, vol.31, pp.221-224, 2005. ,
Versican: a versatile extracellular matrix proteoglycan in cell biology, Curr. Opin. Cell Biol, vol.14, pp.617-623, 2002. ,
, Neural Crest Derivatives in Ocular Development: Discerning the Eye of the Storm, vol.105, pp.87-95, 2015.
A highly conserved lens transcriptional control element from the Pax-6 gene, Mech. Dev, vol.73, pp.225-229, 1998. ,
Bowman's layer structure and function: critical or dispensable to corneal function? A hypothesis, Cornea, vol.19, pp.417-420, 2000. ,
Hepatocyte growth factor, keratinocyte growth factor, their receptors, fibroblast growth factor receptor-2, and the cells of the cornea, Invest. Ophthalmol. Vis. Sci, vol.34, pp.2544-2561, 1993. ,
Stem cells and differentiation stages in the limbo-corneal epithelium, Prog. Retin. Eye Res, vol.19, pp.223-255, 2000. ,
Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation, Ophthalmic Genet, vol.33, pp.119-121, 2012. ,
Gene regulation by PAX6: Structuralfunctional correlations of missense mutants and transcriptional control of Trpm3/miR-204, Mol. Vis, vol.13, 2014. ,
Transcriptional Regulation of the Human PAX6 Gene Promoter, J. Biol. Chem, vol.272, pp.3430-3436, 1997. ,
Regulation of Pax6 expression is conserved between mice and flies, Dev. Camb. Engl, vol.126, pp.383-395, 1999. ,
Autoregulation of Pax6 transcriptional activation by two distinct DNA-binding subdomains of the paired domain, Genes Cells, vol.2, pp.255-261, 1997. ,
Diabetes and pancreatic tumours in transgenic mice expressing Pa x 6, Diabetologia, vol.43, pp.332-339, 2000. ,
Protein Phosphatase-1 Modulates the Function of Pax-6, a Transcription Factor Controlling Brain and Eye Development, J. Biol. Chem, vol.282, pp.13954-13965, 2007. ,
Peroxidasin is essential for eye development in the mouse, Hum. Mol. Genet, vol.23, pp.5597-5614, 2014. ,
PAX6 Mutation as a Genetic Factor Common to Aniridia and Glucose Intolerance, Diabetes, vol.51, pp.224-230, 2002. ,
, , 2016.
, What Is Next?, Int. J. Mol. Sci, vol.17, p.1892
PAX6, brain structure and function in human adults: advanced MRI in aniridia, Ann. Clin. Transl. Neurol, vol.3, pp.314-330, 2016. ,
Limbal stem cells: Central concepts of corneal epithelial homeostasis, World J. Stem Cells, vol.6, p.391, 2014. ,
, , 2006.
, Cytokeratin 15 Can Be Used to Identify the Limbal Phenotype in Normal and Diseased Ocular Surfaces, Investig. Opthalmology Vis. Sci, vol.47, p.4780
High-resolution promoter map of human limbal epithelial cells cultured with keratinocyte growth factor and rho kinase inhibitor, Sci. Rep, vol.7, p.2845, 2017. ,
Peptide Release on the Ribosome: Mechanism and Implications for Translational Control, Annu. Rev. Microbiol, vol.62, pp.353-373, 2008. ,
Vascular Endothelial Growth Factor Mediates Corneal Nerve Repair, Invest. Ophthalmol. Vis. Sci, vol.49, pp.3870-3878, 2008. ,
Results of a phase I/II clinical trial: standardized, non-xenogenic, cultivated limbal stem cell transplantation, J. Transl. Med, vol.12, p.58, 2014. ,
Observations on the innervation of the cornea, J. Anat, vol.85, pp.68-99, 1951. ,
Cell-penetrating peptides as noninvasive transmembrane vectors for the development of novel multifunctional drug-delivery systems, J. Controlled Release, vol.229, pp.130-139, 2016. ,
Efficient construction of sequence-specific TAL effectors for modulating mammalian transcription, Nat. Biotechnol, vol.29, pp.149-153, 2011. ,
At Least One Intron Is Required for the Nonsense-Mediated Decay of Triosephosphate Isomerase mRNA: a Possible Link between Nuclear Splicing and Cytoplasmic Translation, Mol. Cell. Biol, vol.18, pp.5272-5283, 1998. ,
Quantitation of PAX6 and PAX6(5a) transcript levels in adult human lens, cornea, and monkey retina, Mol. Vis, vol.7, pp.1-5, 2001. ,
Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression, Hum. Mutat, vol.36, pp.1164-1167, 2015. ,
The ? Subunit of Voltagegated Ca2+ Channels Interacts with and Regulates the Activity of a Novel Isoform of Pax6, J. Biol. Chem, vol.285, pp.2527-2536, 2010. ,
, , 2017.
, Genome-Editing System in Human Stem Cells: Current Status and Future Prospects, Mol. Ther. -Nucleic Acids, vol.9, pp.230-241
Corneal development associated with eyelid opening, Int. J. Dev. Biol, vol.48, pp.903-911, 2004. ,
, ? Dénaturation : 45 s à 98°C ? Amplification : 10 cycles de 15 s à 98°C, 30 s 60°C et 30 s à 72°C ? Elongation terminale, hgTracks?db=hg19&lastVirtModeType=default&lastVirtModeExtraState=&virtMode un puits : ? 25 µL de KAPA HiFi Hotstart ReadyMix 2X ? 5 µL d'amorces Library Amplification 10X ? 20 µL d'adaptateurs Programme thermocycleur, pp.1-72
, ENSG00000268225 AC010487.1, vol.26, pp.74-78
, ENSG00000104432 IL7 13, vol.152, pp.23-27
, ENSG00000113209 PCDHB5, vol.52, pp.39-43
, ENSG00000091129 NRCAM, vol.565, pp.10-15
, ENSG00000113532 ST8SIA4 19, vol.175, pp.0-04
, ENSG00000197043 ANXA6 791, vol.212, pp.42-48
, , vol.213, pp.81-85
, ENSG00000173210 ABLIM3 90, vol.227, pp.18-23
, , vol.228, pp.95-99
, ENSG00000112852 PCDHB2 191, vol.231, pp.11-15
, ENSG00000213949 ITGA1 93, vol.257, pp.34-39
, ENSG00000081985 IL12RB2 448, vol.264, pp.81-87
, ENSG00000157510 AFAP1L1 940, vol.285, pp.55-62
, ENSG00000212443 SNORA53, vol.300, pp.49-55
, , vol.358, pp.48-53
, ENSG00000185215 TNFAIP2, vol.88, pp.65-70
, ENSG00000144908 ALDH1L1, vol.36, pp.64-69
, ENSG00000251664 PCDHA12, vol.22, pp.91-96
, ENSG00000182986 ZNF320 585, vol.376, pp.3-08
, ENSG00000069702 TGFBR3 73, vol.378, pp.66-71
, ENSG00000136378 ADAMTS7 24, vol.409, pp.14-19
, ENSG00000230439 MIG7 438, vol.468, pp.75-83
, ENSG00000188559 RALGAPA2 1400, vol.475, pp.74-83
, , vol.559, pp.16-22
, ENSG00000131634 TMEM204 61, vol.592, pp.45-51
, ENSG00000154654 NCAM2 16, vol.601, pp.1-06
, ENSG00000064042 LIMCH1, vol.82, pp.42-49
, ENSG00000138829 FBN2 2210, vol.620, pp.21-27
, ENSG00000175879 HOXD8 24, vol.702, pp.78-85
, ENSG00000248383 PCDHAC1, vol.54, pp.90-98
, ENSG00000144810 COL8A1 1259, vol.841, pp.43-53
, , vol.844, pp.29-38
, ENSG00000133687 TMTC1 67, vol.923, pp.55-64
, ENSG00000128591 FLNC, vol.174, pp.35-46
, ENSG00000125730 C3 1567, vol.505, pp.78-89
, ENSG00000162711 NLRP3, vol.37, pp.65-74
, ENSG00000101187 SLCO4A1, vol.33, pp.80-90
, ENSG00000203727 SAMD5 27, vol.277, pp.76-87
, ENSG00000180287 PLD5 43, vol.873, pp.12-16
, ENSG00000197991 PCDH20, vol.63, pp.82-99
, , vol.077, pp.50-73
, ENSG00000166342 NETO1, vol.186, pp.75-101