Research graph
References from A novel minimally humanized mouse model of aniridia for preclinical evaluation of CRISPR gene editing strategies. Local targets link to admitted publications; unresolved targets remain external evidence.
Effects of miR-204-5p modulation on PAX6 regulation and corneal inflammation
10.1038/s41598-024-76654-w · 2024 · External reference
ABE8e corrects Pax6-Aniridic variant in humanized mouse ESCs and via LNPs in Ex Vivo cortical neurons
10.1007/s40123-023-00729-6 · 2023 · External reference
Effects of elevated Pax6 expression and genetic background on mouse eye development
10.1167/iovs.07-1630 · 2009 · External reference
Recent advances in chemical modifications of guide RNA, mRNA and donor template for CRISPR-Mediated genome editing
10.1016/j.addr.2020.10.014 · 2021 · External reference
Characterization of neural damage and neuroinflammation in Pax6 small-eye mice
10.1016/j.exer.2023.109723 · 2024 · External reference
The roles of Pax6 in the cornea, retina, and olfactory epithelium of the developing mouse embryo
10.1016/s0012-1606(02)00095-7 · 2003 · External reference
Quantitative analysis of the packaging capacity of recombinant adeno-associated virus
10.1089/hum.1996.7.17-2101 · 1996 · External reference
Targeting insulin receptor substrate-1 delays disease progression in a murine model of aniridia-associated keratopathy
10.1016/j.biopha.2025.118506 · 2025 · External reference
Genomically humanized mice: technologies and promises
10.1038/nrg3116 · 2011 · External reference
First pilot study of intravenous rAAV-PAX6 gene therapy increases retinal-ganglion-cell-layer thickness and Notch1 transcription in a mouse model of aniridia
10.1038/s41434-026-00605-5 · 2026 · External reference
A single administration of CRISPR/Cas9 lipid nanoparticles achieves robust and persistent in vivo genome editing
10.1016/j.celrep.2018.02.014 · 2018 · External reference
LOVD v.2.0: the next generation in gene variant databases
10.1002/humu.21438 · 2011 · External reference
Programmable base editing of A*T to G*C in genomic DNA without DNA cleavage
10.1038/nature24644 · 2017 · External reference
Minimally humanized Ezh2 Exon-18 mouse cell lines validate preclinical CRISPR/Cas9 approach to treat weaver syndrome
10.1089/hum.2024.170 · 2025 · External reference
Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects
10.1172/jci70462 · 2013 · External reference
Novel clinical presentation and PAX6 mutation in families with congenital aniridia
10.3389/fmed.2022.1042588 · 2022 · External reference
Comprehensive analysis of congenital aniridia and differential diagnoses: genetic insights and clinical manifestations
10.1007/s40123-025-01122-1 · 2025 · External reference
Chemically modified guide RNAs enhance CRISPR-cas genome editing in human primary cells
10.1038/nbt.3290 · 2015 · External reference
PAX6 MiniPromoters drive restricted expression from rAAV in the adult mouse retina
10.1038/mtm.2016.51 · 2016 · External reference
Epistasis between Pax6(Sey) and genetic background reinforces the value of defined hybrid mouse models for therapeutic trials
10.1038/s41434-018-0043-6 · 2018 · External reference
Mouse small eye results from mutations in a paired-like homeobox-containing gene
10.1038/354522a0 · 1991 · External reference
Aniridia
10.1038/ejhg.2012.100 · 2012 · External reference
Nuclease-free adeno-associated virus-mediated Il2rg gene editing in X-SCID mice
10.1016/j.ymthe.2018.02.028 · 2018 · External reference
Small eyes (sey): a homozygous lethal mutation on chromosome 2 which affects the differentiation of both lens and nasal placodes in the mouse
1986 · External reference
High-purity production and precise editing of DNA base editing ribonucleoproteins
10.1126/sciadv.abg2661 · 2021 · External reference
A human-like model of aniridia-associated keratopathy for mechanistic and therapeutic studies
10.1172/jci.insight.183965 · 2024 · External reference
Transcriptomic analysis in a model of aniridia-associated keratopathy for target discovery and evaluation of duloxetine therapy
10.1167/iovs.67.1.37 · 2026 · External reference
Effects of transient immunosuppression on adenoassociated, virus-mediated, liver-directed gene transfer in rhesus macaques and implications for human gene therapy
10.1182/blood-2006-04-017913 · 2006 · External reference
The human PAX6 gene is mutated in two patients with aniridia
10.1038/ng0892-328 · 1992 · External reference
First pilot study of intrastromal rAAV-PAX6 gene therapy suggests improved corneal thickness and transcription correction in aniridic mouse
10.1016/j.omta.2026.201786 · 2026 · External reference
Low immunogenicity of LNP allows repeated administrations of CRISPR-Cas9 mRNA into skeletal muscle in mice
10.1038/s41467-021-26714-w · 2021 · External reference
Highly efficient RNA-Guided genome editing in human cells via delivery of purified Cas9 ribonucleoproteins
10.1101/gr.171322.113 · 2014 · External reference
Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia
10.1172/jci.insight.148406 · 2021 · External reference
Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6
10.1093/hmg/10.19.2049 · 2001 · External reference
EditR: a method to quantify base editing from sanger sequencing
10.1089/crispr.2018.0014 · 2018 · External reference
Lessons from the first-in-human in vivo CRISPR/Cas9 editing of the TTR gene by NTLA-2001 trial in patients with transthyretin amyloidosis with cardiomyopathy
10.21542/gcsp.2023.4 · 2023 · External reference
PAX6 mutational status determines aniridia-associated keratopathy phenotype
10.1016/j.ophtha.2019.09.034 · 2019 · External reference
CRISPR-Cas9 base editors and their current role in human therapeutics
10.1016/j.jcyt.2022.11.013 · 2023 · External reference
ClinVar: public archive of interpretations of clinically relevant variants
10.1093/nar/gkv1222 · 2016 · External reference
Unresolved reference
2017 · External reference
Unresolved reference
2021 · External reference
Personalized gene editing helped one baby: can it be rolled out widely?
10.1038/d41586-025-03566-8 · 2025 · External reference
Applications of genome editing technology in the targeted therapy of human diseases: mechanisms, advances and prospects
10.1038/s41392-019-0089-y · 2020 · External reference
Rapid and highly efficient Mammalian cell engineering via Cas9 protein transfection
10.1016/j.jbiotec.2015.04.024 · 2015 · External reference
The spectrum of PAX6 mutations and genotype-phenotype correlations in the eye
10.3390/genes10121050 · 2019 · External reference
Precise genome editing with base editors
10.1515/mr-2022-0044 · 2023 · External reference
Efficient ablation of genes in human hematopoietic stem and effector cells using CRISPR/Cas9
10.1016/j.stem.2014.10.004 · 2014 · External reference
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
10.1242/dev.02764 · 2007 · External reference
The neuronal organization of the retina
10.1016/j.neuron.2012.10.002 · 2012 · External reference
Germline CRISPR/Cas9-Mediated gene editing prevents vision loss in a novel mouse model of aniridia
10.1016/j.omtm.2020.03.002 · 2020 · External reference
LNP-Mediated delivery of CRISPR RNP for wide-spread in vivo genome editing in mouse cornea
10.1016/j.jconrel.2022.08.042 · 2022 · External reference
PAX6-Related aniridia
1993 · External reference
Experimental modeling for tauopathies: an isogenic panel of humanized MAPT knock-in mice
10.1016/j.neures.2025.104986 · 2025 · External reference
Patient-specific in vivo gene editing to treat a rare genetic disease
10.1056/nejmoa2504747 · 2025 · External reference
Shaping the future of limbal stem cell therapy: advances in substrates, techniques, and science for cultivated autologous and allogeneic limbal-epithelial transplantation
10.1016/j.ajo.2026.07.020 · 2026 · External reference
PAX6 expression in the developing human eye
10.1136/bjo.83.6.723 · 1999 · External reference
Branched endosomal disruptor (BEND) lipids mediate delivery of mRNA and CRISPR-Cas9 ribonucleoprotein complex for hepatic gene editing and T cell engineering
10.1038/s41467-024-55137-6 · 2025 · External reference
PAX6 genotypic and retinal phenotypic characterization in congenital aniridia
10.1167/iovs.61.5.14 · 2020 · External reference
Gene editing for CEP290-Associated retinal degeneration
10.1056/nejmoa2309915 · 2024 · External reference
CRISPR 2.0: expanding the genome engineering toolbox for epigenetics, RNA editing, and molecular diagnostics
10.1016/j.gene.2025.149938 · 2025 · External reference
Genome-editing strategies for treating human retinal degenerations
10.1089/hum.2020.231 · 2021 · External reference
Corneal abnormalities in Pax6+/- small eye mice mimic human aniridia-related keratopathy
10.1167/iovs.02-0576 · 2003 · External reference
Genetically engineered knock-in and conditional knock-in mouse models of cancer
10.1101/pdb.top069799 · 2014 · External reference
Clinical utility gene card for: aniridia
10.1038/ejhg.2016.73 · 2016 · External reference
Phage-assisted evolution of an adenine base editor with improved cas domain compatibility and activity
10.1038/s41587-020-0453-z · 2020 · External reference
dCas9-VPR-mediated transcriptional activation of functionally equivalent genes for gene therapy
10.1038/s41596-021-00666-3 · 2022 · External reference
Long-term expression and repeated administration of AAV type 1, 2 and 5 vectors in skeletal muscle of immunocompetent adult mice
10.1038/sj.gt.3302766 · 2006 · External reference
Congenital aniridia: european COST action ANIRIDIA-NET guidelines for diagnosis, management and care
10.1111/aos.17587 · 2025 · External reference
In vivo adenine base editing of PCSK9 in macaques reduces LDL cholesterol levels
10.1038/s41587-021-00933-4 · 2021 · External reference
Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities
10.1016/s0092-8674(00)80078-1 · 1996 · External reference
Pax6: a multi-level regulator of ocular development
10.1016/j.preteyeres.2012.04.002 · 2012 · External reference
Differences and similarities of the intravenously administered lipid nanoparticles in three clinical trials: potential linkage between lipid nanoparticles and extracellular vesicles
10.1021/acs.molpharmaceut.3c00547 · 2023 · External reference
Translating CRISPR-cas therapeutics: approaches and challenges
10.1089/crispr.2020.0025 · 2020 · External reference
Small eye (sey): cloning and characterization of the murine homolog of the human aniridia gene
10.1016/0888-7543(92)90239-o · 1992 · External reference
Pax6 regulates cell adhesion during cortical development
10.1093/cercor/13.6.612 · 2003 · External reference
The UCSC genome browser database: 2017 update
10.1093/nar/gkw1134 · 2017 · External reference
Future Directions in Managing aniridia-associated Keratopathy
2023 · External reference
Comparative analysis of lipid nanoparticle-mediated delivery of CRISPR-Cas9 RNP versus mRNA/sgRNA for gene editing in vitro and in vivo
10.1016/j.ejpb.2024.114207 · 2024 · External reference
Efficacy of postnatal in vivo nonsense suppression therapy in a Pax6 mouse model of aniridia
10.1016/j.omtn.2017.05.002 · 2017 · External reference
Effect of genome size on AAV vector packaging
10.1038/mt.2009.255 · 2010 · External reference
Next generation tools for high-throughput promoter and expression analysis employing single-copy knock-ins at the Hprt1 locus
10.1016/j.ygeno.2008.09.014 · 2009 · External reference
Humanized rodent models of neurodegenerative diseases and other brain disorders
10.1016/j.neubiorev.2025.106112 · 2025 · External reference
LOVD v.2.0: the next generation in gene variant databases
10.1002/humu.21438 · ExternalCitation · doi-reference
ABE8e corrects Pax6-Aniridic variant in humanized mouse ESCs and via LNPs in Ex Vivo cortical neurons
10.1007/s40123-023-00729-6 · ExternalCitation · doi-reference
Comprehensive analysis of congenital aniridia and differential diagnoses: genetic insights and clinical manifestations
10.1007/s40123-025-01122-1 · ExternalCitation · doi-reference
Small eye (sey): cloning and characterization of the murine homolog of the human aniridia gene
10.1016/0888-7543(92)90239-o · ExternalCitation · doi-reference
Recent advances in chemical modifications of guide RNA, mRNA and donor template for CRISPR-Mediated genome editing
10.1016/j.addr.2020.10.014 · ExternalCitation · doi-reference
Shaping the future of limbal stem cell therapy: advances in substrates, techniques, and science for cultivated autologous and allogeneic limbal-epithelial transplantation
10.1016/j.ajo.2026.07.020 · ExternalCitation · doi-reference
Targeting insulin receptor substrate-1 delays disease progression in a murine model of aniridia-associated keratopathy
10.1016/j.biopha.2025.118506 · ExternalCitation · doi-reference
A single administration of CRISPR/Cas9 lipid nanoparticles achieves robust and persistent in vivo genome editing
10.1016/j.celrep.2018.02.014 · ExternalCitation · doi-reference
Comparative analysis of lipid nanoparticle-mediated delivery of CRISPR-Cas9 RNP versus mRNA/sgRNA for gene editing in vitro and in vivo
10.1016/j.ejpb.2024.114207 · ExternalCitation · doi-reference
Characterization of neural damage and neuroinflammation in Pax6 small-eye mice
10.1016/j.exer.2023.109723 · ExternalCitation · doi-reference
CRISPR 2.0: expanding the genome engineering toolbox for epigenetics, RNA editing, and molecular diagnostics
10.1016/j.gene.2025.149938 · ExternalCitation · doi-reference
Rapid and highly efficient Mammalian cell engineering via Cas9 protein transfection
10.1016/j.jbiotec.2015.04.024 · ExternalCitation · doi-reference
LNP-Mediated delivery of CRISPR RNP for wide-spread in vivo genome editing in mouse cornea
10.1016/j.jconrel.2022.08.042 · ExternalCitation · doi-reference
CRISPR-Cas9 base editors and their current role in human therapeutics
10.1016/j.jcyt.2022.11.013 · ExternalCitation · doi-reference
Humanized rodent models of neurodegenerative diseases and other brain disorders
10.1016/j.neubiorev.2025.106112 · ExternalCitation · doi-reference
Experimental modeling for tauopathies: an isogenic panel of humanized MAPT knock-in mice
10.1016/j.neures.2025.104986 · ExternalCitation · doi-reference
The neuronal organization of the retina
10.1016/j.neuron.2012.10.002 · ExternalCitation · doi-reference
First pilot study of intrastromal rAAV-PAX6 gene therapy suggests improved corneal thickness and transcription correction in aniridic mouse
10.1016/j.omta.2026.201786 · ExternalCitation · doi-reference
Germline CRISPR/Cas9-Mediated gene editing prevents vision loss in a novel mouse model of aniridia
10.1016/j.omtm.2020.03.002 · ExternalCitation · doi-reference
Efficacy of postnatal in vivo nonsense suppression therapy in a Pax6 mouse model of aniridia
10.1016/j.omtn.2017.05.002 · ExternalCitation · doi-reference
PAX6 mutational status determines aniridia-associated keratopathy phenotype
10.1016/j.ophtha.2019.09.034 · ExternalCitation · doi-reference
Pax6: a multi-level regulator of ocular development
10.1016/j.preteyeres.2012.04.002 · ExternalCitation · doi-reference
Efficient ablation of genes in human hematopoietic stem and effector cells using CRISPR/Cas9
10.1016/j.stem.2014.10.004 · ExternalCitation · doi-reference
Next generation tools for high-throughput promoter and expression analysis employing single-copy knock-ins at the Hprt1 locus
10.1016/j.ygeno.2008.09.014 · ExternalCitation · doi-reference
Nuclease-free adeno-associated virus-mediated Il2rg gene editing in X-SCID mice
10.1016/j.ymthe.2018.02.028 · ExternalCitation · doi-reference
The roles of Pax6 in the cornea, retina, and olfactory epithelium of the developing mouse embryo
10.1016/s0012-1606(02)00095-7 · ExternalCitation · doi-reference
Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities
10.1016/s0092-8674(00)80078-1 · ExternalCitation · doi-reference
Differences and similarities of the intravenously administered lipid nanoparticles in three clinical trials: potential linkage between lipid nanoparticles and extracellular vesicles
10.1021/acs.molpharmaceut.3c00547 · ExternalCitation · doi-reference
Mouse small eye results from mutations in a paired-like homeobox-containing gene
10.1038/354522a0 · ExternalCitation · doi-reference
Personalized gene editing helped one baby: can it be rolled out widely?
10.1038/d41586-025-03566-8 · ExternalCitation · doi-reference
Aniridia
10.1038/ejhg.2012.100 · ExternalCitation · doi-reference
Clinical utility gene card for: aniridia
10.1038/ejhg.2016.73 · ExternalCitation · doi-reference
Effect of genome size on AAV vector packaging
10.1038/mt.2009.255 · ExternalCitation · doi-reference
PAX6 MiniPromoters drive restricted expression from rAAV in the adult mouse retina
10.1038/mtm.2016.51 · ExternalCitation · doi-reference
Programmable base editing of A*T to G*C in genomic DNA without DNA cleavage
10.1038/nature24644 · ExternalCitation · doi-reference
Chemically modified guide RNAs enhance CRISPR-cas genome editing in human primary cells
10.1038/nbt.3290 · ExternalCitation · doi-reference
The human PAX6 gene is mutated in two patients with aniridia
10.1038/ng0892-328 · ExternalCitation · doi-reference
Genomically humanized mice: technologies and promises
10.1038/nrg3116 · ExternalCitation · doi-reference
Applications of genome editing technology in the targeted therapy of human diseases: mechanisms, advances and prospects
10.1038/s41392-019-0089-y · ExternalCitation · doi-reference
Epistasis between Pax6(Sey) and genetic background reinforces the value of defined hybrid mouse models for therapeutic trials
10.1038/s41434-018-0043-6 · ExternalCitation · doi-reference
First pilot study of intravenous rAAV-PAX6 gene therapy increases retinal-ganglion-cell-layer thickness and Notch1 transcription in a mouse model of aniridia
10.1038/s41434-026-00605-5 · ExternalCitation · doi-reference
Low immunogenicity of LNP allows repeated administrations of CRISPR-Cas9 mRNA into skeletal muscle in mice
10.1038/s41467-021-26714-w · ExternalCitation · doi-reference
Branched endosomal disruptor (BEND) lipids mediate delivery of mRNA and CRISPR-Cas9 ribonucleoprotein complex for hepatic gene editing and T cell engineering
10.1038/s41467-024-55137-6 · ExternalCitation · doi-reference
Phage-assisted evolution of an adenine base editor with improved cas domain compatibility and activity
10.1038/s41587-020-0453-z · ExternalCitation · doi-reference
In vivo adenine base editing of PCSK9 in macaques reduces LDL cholesterol levels
10.1038/s41587-021-00933-4 · ExternalCitation · doi-reference
dCas9-VPR-mediated transcriptional activation of functionally equivalent genes for gene therapy
10.1038/s41596-021-00666-3 · ExternalCitation · doi-reference
Effects of miR-204-5p modulation on PAX6 regulation and corneal inflammation
10.1038/s41598-024-76654-w · ExternalCitation · doi-reference
Long-term expression and repeated administration of AAV type 1, 2 and 5 vectors in skeletal muscle of immunocompetent adult mice
10.1038/sj.gt.3302766 · ExternalCitation · doi-reference
Gene editing for CEP290-Associated retinal degeneration
10.1056/nejmoa2309915 · ExternalCitation · doi-reference
Patient-specific in vivo gene editing to treat a rare genetic disease
10.1056/nejmoa2504747 · ExternalCitation · doi-reference
EditR: a method to quantify base editing from sanger sequencing
10.1089/crispr.2018.0014 · ExternalCitation · doi-reference
Translating CRISPR-cas therapeutics: approaches and challenges
10.1089/crispr.2020.0025 · ExternalCitation · doi-reference
Quantitative analysis of the packaging capacity of recombinant adeno-associated virus
10.1089/hum.1996.7.17-2101 · ExternalCitation · doi-reference
Genome-editing strategies for treating human retinal degenerations
10.1089/hum.2020.231 · ExternalCitation · doi-reference
Minimally humanized Ezh2 Exon-18 mouse cell lines validate preclinical CRISPR/Cas9 approach to treat weaver syndrome
10.1089/hum.2024.170 · ExternalCitation · doi-reference
Pax6 regulates cell adhesion during cortical development
10.1093/cercor/13.6.612 · ExternalCitation · doi-reference
Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6
10.1093/hmg/10.19.2049 · ExternalCitation · doi-reference
ClinVar: public archive of interpretations of clinically relevant variants
10.1093/nar/gkv1222 · ExternalCitation · doi-reference
The UCSC genome browser database: 2017 update
10.1093/nar/gkw1134 · ExternalCitation · doi-reference
Highly efficient RNA-Guided genome editing in human cells via delivery of purified Cas9 ribonucleoproteins
10.1101/gr.171322.113 · ExternalCitation · doi-reference
Genetically engineered knock-in and conditional knock-in mouse models of cancer
10.1101/pdb.top069799 · ExternalCitation · doi-reference
Congenital aniridia: european COST action ANIRIDIA-NET guidelines for diagnosis, management and care
10.1111/aos.17587 · ExternalCitation · doi-reference
High-purity production and precise editing of DNA base editing ribonucleoproteins
10.1126/sciadv.abg2661 · ExternalCitation · doi-reference
PAX6 expression in the developing human eye
10.1136/bjo.83.6.723 · ExternalCitation · doi-reference
Corneal abnormalities in Pax6+/- small eye mice mimic human aniridia-related keratopathy
10.1167/iovs.02-0576 · ExternalCitation · doi-reference
Effects of elevated Pax6 expression and genetic background on mouse eye development
10.1167/iovs.07-1630 · ExternalCitation · doi-reference
PAX6 genotypic and retinal phenotypic characterization in congenital aniridia
10.1167/iovs.61.5.14 · ExternalCitation · doi-reference
Transcriptomic analysis in a model of aniridia-associated keratopathy for target discovery and evaluation of duloxetine therapy
10.1167/iovs.67.1.37 · ExternalCitation · doi-reference
Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia
10.1172/jci.insight.148406 · ExternalCitation · doi-reference
A human-like model of aniridia-associated keratopathy for mechanistic and therapeutic studies
10.1172/jci.insight.183965 · ExternalCitation · doi-reference
Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects
10.1172/jci70462 · ExternalCitation · doi-reference
Effects of transient immunosuppression on adenoassociated, virus-mediated, liver-directed gene transfer in rhesus macaques and implications for human gene therapy
10.1182/blood-2006-04-017913 · ExternalCitation · doi-reference
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
10.1242/dev.02764 · ExternalCitation · doi-reference
Precise genome editing with base editors
10.1515/mr-2022-0044 · ExternalCitation · doi-reference
Lessons from the first-in-human in vivo CRISPR/Cas9 editing of the TTR gene by NTLA-2001 trial in patients with transthyretin amyloidosis with cardiomyopathy
10.21542/gcsp.2023.4 · ExternalCitation · doi-reference
Novel clinical presentation and PAX6 mutation in families with congenital aniridia
10.3389/fmed.2022.1042588 · ExternalCitation · doi-reference
The spectrum of PAX6 mutations and genotype-phenotype correlations in the eye
10.3390/genes10121050 · ExternalCitation · doi-reference
