Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes

scientific article published on 26 February 2020

Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

External links are
P356DOI10.3390/IJMS21051602
P932PMC publication ID7084737
P698PubMed publication ID32111086

P2093author name stringVladimir Simirskii
Yuliya Markitantova
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Otx2 gene deletion in adult mouse retina induces rapid RPE dystrophy and slow photoreceptor degenerationQ21562190
A homeobox gene, vax2, controls the patterning of the eye dorsoventral axisQ22010374
Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissuesQ22253183
Prenatal folic acid treatment suppresses acrania and meroanencephaly in mice mutant for the Cart1 homeobox geneQ22337236
Prox1 function controls progenitor cell proliferation and horizontal cell genesis in the mammalian retinaQ24299778
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptorQ24311359
QRX, a novel homeobox gene, modulates photoreceptor gene expressionQ24317536
Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouseQ24323305
ALX4 dysfunction disrupts craniofacial and epidermal developmentQ24336580
Heterozygous mutations of OTX2 cause severe ocular malformationsQ24530768
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNPQ24567998
Vax1, a novel homeobox-containing gene, directs development of the basal forebrain and visual systemQ24596773
The homeodomain protein vax1 is required for axon guidance and major tract formation in the developing forebrainQ24596814
Eye Morphogenesis and Patterning of the Optic VesicleQ24629124
Evolution of the vertebrate eye: opsins, photoreceptors, retina and eye cupQ24629683
Mammalian ceramide synthasesQ24633453
Lmx1b is essential for survival of periocular mesenchymal cells and influences Fgf-mediated retinal patterning in zebrafishQ24644226
Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucomaQ24658359
rax, a novel paired-type homeobox gene, shows expression in the anterior neural fold and developing retinaQ24679135
Synaptogenesis and outer segment formation are perturbed in the neural retina of Crx mutant miceQ24803520
Neuroprotective and symptomatic effects of targeting group III mGlu receptors in neurodegenerative diseaseQ26995351
The role of homeobox genes in retinal development and diseaseQ27021998
Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factorsQ27860937
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Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossificationQ28140224
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10Q28142971
Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 geneQ28181428
Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye developmentQ28208111
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from QatarQ28238442
Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2Q28241289
Structure-function analysis of Msx2-mediated transcriptional suppressionQ28246728
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Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathyQ28253929
Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genesQ28255968
Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in manQ28276610
Eye development and retinogenesisQ28277172
CHX10 targets a subset of photoreceptor genesQ28278003
The human LMX1B gene: transcription unit, promoter, and pathogenic mutationsQ28289050
Transcriptional activity of the paired-like homeodomain proteins CHX10 and VSX1Q28302177
Pancreas-specific deletion of Prox1 affects development and disrupts homeostasis of the exocrine pancreasQ28505235
Otx2 homeobox gene controls retinal photoreceptor cell fate and pineal gland developmentQ28505275
Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibres and eye colobomaQ28505332
LMX1B, a LIM homeodomain class transcription factor, is necessary for normal development of multiple tissues in the anterior segment of the murine eyeQ28506555
Chx10 repression of Mitf is required for the maintenance of mammalian neuroretinal identityQ28506979
Hedgehog-regulated localization of Vax2 controls eye developmentQ28509927
The homeodomain protein Vax2 patterns the dorsoventral and nasotemporal axes of the eyeQ28509947
The subcellular localization of Otx2 is cell-type specific and developmentally regulated in the mouse retinaQ28510673
Regulation of retinal cone bipolar cell differentiation and photopic vision by the CVC homeobox gene Vsx1Q28511434
Pax2 contributes to inner ear patterning and optic nerve trajectoryQ28511597
Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formationQ28511870
Reciprocal roles of MSX2 in regulation of osteoblast and adipocyte differentiationQ28513083
Developmental and daily expression of the Pax4 and Pax6 homeobox genes in the rat retina: localization of Pax4 in photoreceptor cellsQ28565164
rax, Hes1, and notch1 promote the formation of Müller glia by postnatal retinal progenitor cellsQ28572535
Optic nerve axon number in mouse is regulated by PAX2Q28586711
Cloning, characterization, and mapping of the mouse homeobox gene Hmx1Q28588596
Vsx1, a rapidly evolving paired-like homeobox gene expressed in cone bipolar cellsQ28588746
Vax genes ventralize the embryonic eyeQ28588805
Ocular retardation mouse caused by Chx10 homeobox null allele: impaired retinal progenitor proliferation and bipolar cell differentiationQ28589610
Control of late off-center cone bipolar cell differentiation and visual signaling by the homeobox gene Vsx1Q28590360
Retinal pigmented epithelium determination requires the redundant activities of Pax2 and Pax6Q28590743
The Cpf1 CRISPR-Cas protein expands genome-editing tools.Q34045416
Ectopic Pax2 expression in chick ventral optic cup phenocopies loss of Pax2 expressionQ34051738
VSX1: a gene for posterior polymorphous dystrophy and keratoconusQ34125711
Meis1 specifies positional information in the retina and tectum to organize the zebrafish visual system.Q34128072
Ceramide synthases: roles in cell physiology and signalingQ34141622
Premature suture closure and ectopic cranial bone in mice expressing Msx2 transgenes in the developing skullQ34195193
An essential role for Rax in retina and neuroendocrine system developmentQ34270194
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocorneaQ34282029
VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cellsQ34309519
VSX1 gene analysis in keratoconusQ34366127
Genomic structure of the human PAX2 geneQ34383982
Vsx2 controls eye organogenesis and retinal progenitor identity via homeodomain and non-homeodomain residues required for high affinity DNA bindingQ34426547
Pax6 lights-up the way for eye developmentQ34430792
Regulation of retinal axon growth by secreted Vax1 homeodomain proteinQ34437491
Delivery of neurotrophic factors to the central nervous system: pharmacokinetic considerationsQ34458377
Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.Q34465814
Vax1 is a novel homeobox-containing gene expressed in the developing anterior ventral forebrain.Q34472863
OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotypeQ34474376
Somatic mutation in single human neurons tracks developmental and transcriptional historyQ34496558
Embryonic stem cell-derived microvesicles induce gene expression changes in Müller cells of the retinaQ34505371
High-fidelity CRISPR-Cas9 nucleases with no detectable genome-wide off-target effects.Q34507554
No VSX1 gene mutations associated with keratoconusQ34541731
Vision Loss after Intravitreal Injection of Autologous "Stem Cells" for AMD.Q34553334
Genetics of septo-optic dysplasiaQ34640923
Characterization of ceramide synthase 2: tissue distribution, substrate specificity, and inhibition by sphingosine 1-phosphateQ34731468
Transcriptome analyses of the human retina identify unprecedented transcript diversity and 3.5 Mb of novel transcribed sequence via significant alternative splicing and novel genesQ34832437
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox geneQ34978768
A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].Q35165296
PAX6 expression in the developing human eyeQ35310230
bHLH genes and retinal cell fate specificationQ35574325
The phototransduction machinery in the rod outer segment has a strong efficacy gradient.Q35622196
Msx homeobox gene family and craniofacial developmentQ35631682
A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report.Q35661887
PAX6: 25th anniversary and more to learnQ38820355
Defective ceramide synthases in mice cause reduced amplitudes in electroretinograms and altered sphingolipid composition in retina and corneaQ38880061
The role of growth factors in nerve regenerationQ38982073
Neurotrophic Factors Used to Treat Spinal Cord InjuryQ39142615
The inner blood-retinal barrier: Cellular basis and developmentQ39376508
Emerging pharmacological approaches to promote neurogenesis from endogenous glial cellsQ39396433
Pax2 expression and retinal morphogenesis in the normal and Krd mouseQ39460842
Negative regulation of Vsx1 by its paralog Chx10/Vsx2 is conserved in the vertebrate retina.Q40071488
Loss of function of the candidate tumor suppressor prox1 by RNA mutation in human cancer cellsQ40184230
Meis1 coordinates a network of genes implicated in eye development and microphthalmiaQ40647371
Pax6 is required for the multipotent state of retinal progenitor cellsQ40813005
Pax-6, Prox 1, and Chx10 homeobox gene expression correlates with phenotypic fate of retinal precursor cellsQ40893540
Onecut1 and Onecut2 transcription factors operate downstream of Pax6 to regulate horizontal cell developmentQ41186965
The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotypeQ41301123
Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarismQ41496210
Functional roles of Otx2 transcription factor in postnatal mouse retinal development.Q42041798
Retinal homeobox 1 is required for retinal neurogenesis and photoreceptor differentiation in embryonic zebrafishQ42075275
Relationship between somatic mosaicism of Pax6 mutation and variable developmental eye abnormalities-an analysis of CRISPR genome-edited mouse embryosQ42273398
The proliferation and expansion of retinal stem cells require functional Pax6.Q42413393
Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasiaQ42644097
Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different consequences at target promotersQ42673884
Transcriptome analysis reveals determinant stages controlling human embryonic stem cell commitment to neuronal cells.Q42777957
Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation.Q42834166
Alx3-deficient mice exhibit folic acid-resistant craniofacial midline and neural tube closure defectsQ43037401
Pax2 is expressed in a subpopulation of Müller cells in the central chick retinaQ43054047
Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophyQ43087850
Msx2 alters the timing of retinal ganglion cells fate commitment and differentiationQ43098326
Prox1 expression in rod precursors and Müller cells.Q43246846
Hepatocyte growth factor protects retinal ganglion cells by increasing neuronal survival and axonal regeneration in vitro and in vivo.Q43409496
Characterization of the Rx1-dependent transcriptome during early retinal development.Q43504224
Ceramide: a potential mediator of apoptosis in human retinal pigment epithelial cellsQ43514011
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and colobomaQ43529911
Vax2 regulates retinoic acid distribution and cone opsin expression in the vertebrate eye.Q43538537
Differentiation and migration of astrocyte precursor cells and astrocytes in human fetal retina: relevance to optic nerve coloboma.Q43711884
The mouse Crx 5'-upstream transgene sequence directs cell-specific and developmentally regulated expression in retinal photoreceptor cells.Q43906976
Microphthalmia resulting from MSX2-induced apoptosis in the optic vesicleQ44053617
Pax6 is required for establishing naso-temporal and dorsal characteristics of the optic vesicle.Q44132455
The chicken RaxL gene plays a role in the initiation of photoreceptor differentiationQ44196729
Genetic rescue of cell number in a mouse model of microphthalmia: interactions between Chx10 and G1-phase cell cycle regulatorsQ44254916
Hedgehog signalling maintains the optic stalk-retinal interface through the regulation of Vax gene activityQ44285295
Gene expression variation in the adult human retinaQ44602945
Delayed expression of the Crx gene and photoreceptor development in the Chx10-deficient retinaQ44743277
KMeyeDB: a graphical database of mutations in genes that cause eye diseasesQ44763748
Zebrafish cone-rod (crx) homeobox gene promotes retinogenesisQ44842157
Ceramide-induced apoptosis: role of catalase and hepatocyte growth factorQ44941228
Evidence for an evolutionary conserved role of homothorax/Meis1/2 during vertebrate retina developmentQ45056586
Transdifferentiation of the retina into pigmented cells in ocular retardation mice defines a new function of the homeodomain gene Chx10.Q45086429
Incipient forebrain boundaries traced by differential gene expression and fate mapping in the chick neural plateQ45376099
Heterozygous mutation in OTX2 associated with early-onset retinal dystrophy with atypical maculopathyQ45762325
Defective neural crest migration revealed by a Zebrafish model of Alx1-related frontonasal dysplasiaQ45768286
Evolution of the Rax family of developmental transcription factors in vertebrates.Q50477617
Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome.Q50482153
Ectopic expression of Msx2 in chick retinal pigmented epithelium cultures suggests a role in patterning the optic vesicle.Q50497506
Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation.Q50577354
Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy.Q50608565
Brief report: Rx1 defines retinal precursor identity by repressing alternative fates through the activation of TLE2 and Hes4.Q50721769
Cell-type-specific expression pattern of ceramide synthase 2 protein in mouse tissues.Q51065188
Induction of retinal pigment epithelial cells from monkey iPS cells.Q51854923
Pax2 regulates neuronal-glial cell fate choice in the embryonic optic nerve.Q51999112
The OAR/aristaless domain of the homeodomain protein Cart1 has an attenuating role in vivo.Q52109672
Bmp4 mediates apoptotic cell death in the developing chick eye.Q52141585
The conditional medaka mutation eyeless uncouples patterning and morphogenesis of the eye.Q52169431
A statistical analysis of the overexpression of the msx2 RNA in Xenopus laevis.Q52173671
Mouse Otx2 functions in the formation and patterning of rostral head.Q52205211
Pluripotent Stem Cells for Retinal Tissue Engineering: Current Status and Future Prospects.Q52314577
Neuroprotective strategies for retinal disease.Q52372755
Retinopathy and attenuated circadian entrainment in Crx-deficient mice.Q52537179
Retinal Neuroprotection: Overcoming the Translational Roadblocks.Q52558852
A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosis.Q52641748
Serotonergic stimulation induces nerve growth and promotes visual learning via posterior eye grafts in a vertebrate model of induced sensory plasticity.Q52687516
Organoid technology for retinal repair.Q52733109
MSX2 Gene Duplication in a Patient with Eye Development Defects.Q54216373
[Analysis of expression of regulatory genes Pax6, Prox1, and Pitx2 in differentiating eye cells in human fetus].Q54577948
Forebrain and midbrain regions are deleted in Otx2−/− mutants due to a defective anterior neuroectoderm specification during gastrulationQ54602798
MSX2 promotes osteogenesis and suppresses adipogenic differentiation of multipotent mesenchymal progenitors.Q54759836
Guiding Lights in Genome Editing for Inherited Retinal Disorders: Implications for Gene and Cell Therapy.Q55000684
Boston type craniosynostosis: report of a second mutation in MSX2.Q55057321
A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.Q55157765
Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome.Q55364969
Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P).Q55691615
VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotypeQ57206652
Identification and Analysis of Genes Associated with Inherited Retinal DiseasesQ57454555
Cone-rod homeobox CRX controls presynaptic active zone formation in photoreceptors of mammalian retinaQ57463061
Identification of retinal homeobox (rax) gene-dependent genes by a microarray approach: the DNA endoglycosylase neil3 is a major downstream component of the rax genetic pathwayQ57470790
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal diseaseQ58087962
Evaluation of serum sphingolipids and the influence of genetic risk factors in age-related macular degenerationQ58803874
New functions for old genes: Pax6 and Mitf in eye pigment biogenesisQ58895764
Pharmaceutical Development of AAV-Based Gene Therapy Products for the EyeQ60932114
The autism/neuroprotection-linked ADNP/NAP regulate the excitatory glutamatergic synapseQ61448544
Genes and Mutations in Autosomal Dominant Cone and Cone-Rod DystrophyQ61467421
Stimulation of Retinal Pigment Epithelium With an α7 nAChR Agonist Leads to Müller Glia Dependent Neurogenesis in the Adult Mammalian RetinaQ61804162
An integrated transcriptional analysis of the developing human retinaQ61806906
Geographical Distribution of Optic Nerve Hypoplasia and Septo-optic Dysplasia in Northwest EnglandQ62750190
Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairmentQ64040502
Genetic analyses of human fetal retinal pigment epithelium gene expression suggest ocular disease mechanismsQ64051930
Cellular Signaling in Müller Glia: Progenitor Cells for Regenerative and Neuroprotective Responses in Pharmacological Models of Retinal DegenerationQ64076578
Human iPSC-Derived Retinas Recapitulate the Fetal CRB1 CRB2 Complex Formation and Demonstrate that Photoreceptors and Müller Glia Are Targets of AAV5Q64078426
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye DiseasesQ64091412
Spatially and temporally restricted expression of Pax2 during murine neurogenesisQ68159867
Increased Levels of Ceramide in the Retina of a Patient With Farber's DiseaseQ68500681
iPS Cells for Modelling and Treatment of Retinal DiseasesQ35750572
Comparison of Mouse and Human Retinal Pigment Epithelium Gene Expression Profiles: Potential Implications for Age-Related Macular DegenerationQ35827351
The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidneyQ35934032
Regulation of vertebrate eye development by Rx genes.Q35959708
Graded gene expression changes determine phenotype severity in mouse models of CRX-associated retinopathiesQ36015220
RAX and anophthalmia in humans: evidence of brain anomaliesQ36051688
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humansQ36107483
Developmental eye disordersQ36139826
Functional properties of natural human PAX6 and PAX6(5a) mutantsQ36149164
Eye drop delivery of pigment epithelium-derived factor-34 promotes retinal ganglion cell neuroprotection and axon regenerationQ36159673
The retinal pigment epithelium in visual functionQ36178984
msh/Msx gene family in neural developmentQ36260362
Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrainQ36445327
Intrinsic control of mammalian retinogenesisQ36592539
Relationship of Pax6 activity levels to the extent of eye development in the mouse, Mus musculusQ36778080
Ceramide: physiological and pathophysiological aspectsQ36805841
Regulation of retinal cell fate specification by multiple transcription factorsQ36815413
Inhibition of de novo ceramide biosynthesis by FTY720 protects rat retina from light-induced degenerationQ36822578
Focus on molecules: homeobox protein Chx10.Q36854681
Vsx-1 and Vsx-2: differential expression of two paired-like homeobox genes during zebrafish and goldfish retinogenesisQ36890987
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kineticsQ36937189
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and colobomaQ37058029
Homeobox genes in vertebrate forebrain development and disease.Q37074240
An atlas of gene expression and gene co-regulation in the human retina.Q37076345
Coordinating progenitor cell cycle exit and differentiation in the developing vertebrate retinaQ37152864
Three-dimensional retinal organoids from mouse pluripotent stem cells mimic in vivo development with enhanced stratification and rod photoreceptor differentiationQ37245151
MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levelsQ37292968
Role of antioxidant enzymes and small molecular weight antioxidants in the pathogenesis of age-related macular degeneration (AMD)Q37298565
Meis1 regulates Foxn4 expression during retinal progenitor cell differentiationQ37310328
Comparative study of Pax2 expression in glial cells in the retina and optic nerve of birds and mammalsQ37342594
Retinal pigmented epithelial cells obtained from human induced pluripotent stem cells possess functional visual cycle enzymes in vitro and in vivo.Q37348903
Analysis of DNA methylation reveals a partial reprogramming of the Müller glia genome during retina regenerationQ37377499
Confirmation of RAX gene involvement in human anophthalmia.Q37389881
Cell Type-Specific Epigenomic Analysis Reveals a Uniquely Closed Chromatin Architecture in Mouse Rod Photoreceptors.Q37679013
Small eyes (Sey): a homozygous lethal mutation on chromosome 2 which affects the differentiation of both lens and nasal placodes in the mouseQ69696226
Farber's disease. Light and electron microscopic study of the eyeQ70080392
Restricted expression of a new paired-class homeobox gene in normal and regenerating adult goldfish retinaQ72466670
Assessment of foveal cone photoreceptors in Stargardt's macular dystrophy using a small dot detection taskQ72880421
Molecular recapitulation: the growth of the vertebrate retinaQ74756322
Effects of homeobox genes on the differentiation of photoreceptor and nonphotoreceptor neuronsQ78448717
Cloning and developmental expression of the Xenopus homeobox gene Xvsx1Q79356374
Balance of purines may determine life or death of retinal ganglion cells as A3 adenosine receptors prevent loss following P2X7 receptor stimulationQ79807526
Ceramide is a mediator of apoptosis in retina photoreceptorsQ82973519
Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum casesQ84284285
CRX variants in cone-rod dystrophy and mutation overviewQ84950116
Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotypeQ84991026
Morphological Survey from Neurons to Circuits of the Mouse RetinaQ88128795
Non-syndromic retinitis pigmentosaQ88216321
Retinal organotypic culture - A candidate for research on retinasQ88285176
A journey into the retina: Müller glia commanding survival and deathQ88782039
Regenerating Eye Tissues to Preserve and Restore VisionQ88957422
First insights into the expression of VAX2 in humans and its localization in the adult primate retinaQ89202791
Identification and characterization of the VAX2 p.Leu139Arg variant: possible involvement of VAX2 in cone dystrophyQ89279505
Single-Cell Transcriptomic Comparison of Human Fetal Retina, hPSC-Derived Retinal Organoids, and Long-Term Retinal CulturesQ89548813
Investigating the Pathogenicity of VSX1 Missense Mutations and Their Association With Corneal DiseaseQ90392557
Inherited Retinal Degenerations: Current Landscape and Knowledge GapsQ90405906
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interactionQ91174452
Single-cell transcriptomics of the human retinal pigment epithelium and choroid in health and macular degenerationQ91234362
Neuroprotection in Glaucoma: Old and New Promising TreatmentsQ91362239
Genetic Deletion of Hesx1 Promotes Exit from the Pluripotent State and Impairs Developmental DiapauseQ91421969
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmiaQ91569201
Dissecting the transcriptome landscape of the human fetal neural retina and retinal pigment epithelium by single-cell RNA-seq analysisQ91581560
Long-term evaluation of AAV-CRISPR genome editing for Duchenne muscular dystrophyQ91692021
Balancing the Photoreceptor Proteome: Proteostasis Network Therapeutics for Inherited Retinal DiseaseQ92178350
VEGF in Signaling and Disease: Beyond Discovery and DevelopmentQ92229613
Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis PigmentosaQ92276489
New models for human disease from the International Mouse Phenotyping ConsortiumQ92283778
Single-Cell RNA-Seq Analysis of Retinal Development Identifies NFI Factors as Regulating Mitotic Exit and Late-Born Cell SpecificationQ92293282
Microglia in the developing retinaQ92332913
The Molecular Basis of Human Anophthalmia and MicrophthalmiaQ92642653
MEIS transcription factors in development and diseaseQ92646605
A single-cell transcriptome atlas of the adult human retinaQ92766837
Pericytes in the RetinaQ92776361
Molecular Therapies for Inherited Retinal Diseases-Current Standing, Opportunities and ChallengesQ92988365
Retina Development in Vertebrates: Systems Biology Approaches to Understanding Genetic Programs: On the Contribution of Next-Generation Sequencing Methods to the Characterization of the Regulatory Networks Controlling Vertebrate Eye DevelopmentQ93044683
Transplantation of photoreceptors into the degenerative retina: Current state and future perspectivesQ93175211
A novel CRX variant (p.R98X) is identified in a Chinese family of Retinitis pigmentosa with atypical and mild manifestationsQ93258240
Severe nasal clefting and abnormal embryonic apoptosis in Alx3/Alx4 double mutant miceQ28592190
Misexpression of the Emx-related homeobox genes cVax and mVax2 ventralizes the retina and perturbs the retinotectal mapQ28593223
Hematopoietic, angiogenic and eye defects in Meis1 mutant animalsQ28593369
Conditional alleles for activation and inactivation of the mouse Rx homeobox geneQ28593837
Groucho/TLE family proteins and transcriptional repressionQ28609075
Generation of three-dimensional retinal tissue with functional photoreceptors from human iPSCsQ28651997
Subcellular localization and secretion of activity-dependent neuroprotective protein in astrocytesQ29347042
The Complete Genome Sequences, Unique Mutational Spectra, and Developmental Potency of Adult Neurons Revealed by CloningQ30277198
Xenopus pax6 mutants affect eye development and other organ systems, and have phenotypic similarities to human aniridia patientsQ30300519
The role of Xenopus Rx-L in photoreceptor cell determination.Q30319169
Cloning and characterization of the human activity-dependent neuroprotective protein.Q30327290
Xenopus mutant reveals necessity of rax for specifying the eye field which otherwise forms tissue with telencephalic and diencephalic character.Q30366238
Mouse H6 Homeobox 1 (Hmx1) mutations cause cranial abnormalities and reduced body massQ30489861
Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndromeQ30490281
Adult ceramide synthase 2 (CERS2)-deficient mice exhibit myelin sheath defects, cerebellar degeneration, and hepatocarcinomasQ30492014
RINX(VSX1), a novel homeobox gene expressed in the inner nuclear layer of the adult retinaQ30886742
Hmx: an evolutionary conserved homeobox gene family expressed in the developing nervous system in mice and Drosophila.Q30968705
Zebrafish genes rx1 and rx2 help define the region of forebrain that gives rise to retinaQ31951417
H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD familyQ33230545
Timing the generation of distinct retinal cells by homeobox proteinsQ33253666
A new GFP-tagged line reveals unexpected Otx2 protein localization in retinal photoreceptors.Q33304885
Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transferQ33315634
Transcription factors CTCF and Pax6 are segregated to different cell types during retinal cell differentiationQ33316777
Overexpression of Pax6 results in microphthalmia, retinal dysplasia and defective retinal ganglion cell axon guidanceQ33338248
Regulation of photoreceptor gene expression by the retinal homeobox (Rx) gene productQ33695547
Neurobiology of local and intercellular BDNF signalingQ33708741
Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasiaQ33847220
Craniofacial abnormalities in homozygous Small eye (Sey/Sey) embryos and newborn miceQ33880114
Mutations of the PAX6 Gene Detected in Patients with a Variety of Optic-Nerve MalformationsQ33904914
Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataractsQ33931627
The dynamics of vertebrate homeobox gene evolution: gain and loss of genes in mouse and human lineagesQ33934604
Isolation and ex vivo characterization of the immunophenotype and function of microglia/macrophage populations in normal dog retinaQ34023023
Precocious retinal neurons: Pax6 controls timing of differentiation and determination of cell typeQ34026421
Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defectsQ34039397
AAV-mediated expression of CNTF promotes long-term survival and regeneration of adult rat retinal ganglion cellsQ45858441
Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectivesQ45873913
Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosisQ45876564
Retinal detachment in severe myopia.Q46035967
Distribution of Müller stem cells within the neural retina: evidence for the existence of a ciliary margin-like zone in the adult human eye.Q46044177
Pax6 is essential for the generation of late-born retinal neurons and for inhibition of photoreceptor-fate during late stages of retinogenesisQ46049379
Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachmentQ46114961
Cone contacts, mosaics, and territories of bipolar cells in the mouse retina.Q46171869
Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation.Q46366346
Expression of rinx/vsx1 during postnatal eye development in cone-bipolar, differentiating ganglion, and lens fiber cellsQ46444425
In vivo characterization of astrocyte precursor cells (APCs) and astrocytes in developing rat retinae: differentiation, proliferation, and apoptosisQ46459541
A POU factor binding site upstream of the Chx10 homeobox gene is required for Chx10 expression in subsets of retinal progenitor cells and bipolar cellsQ46490524
The neuropeptide NAP provides neuroprotection against retinal ganglion cell damage after retinal ischemia and optic nerve crushQ46642580
Continuous expression of the homeobox gene Pax6 in the ageing human retinaQ46778440
meis1 regulates cyclin D1 and c-myc expression, and controls the proliferation of the multipotent cells in the early developing zebrafish eye.Q46793986
Neurotrophic factor synergy is required for neuronal survival and disinhibited axon regeneration after CNS injuryQ46844217
Zebrafish hmx1 promotes retinogenesisQ47074118
Opportunities for CRISPR/Cas9 Gene Editing in Retinal Regeneration ResearchQ47140633
Cis-regulatory landscapes of four cell types of the retinaQ47153384
Accelerated and Improved Differentiation of Retinal Organoids from Pluripotent Stem Cells in Rotating-Wall Vessel Bioreactors.Q47256592
A Novel Approach to Single Cell RNA-Sequence Analysis Facilitates In Silico Gene Reporting of Human Pluripotent Stem Cell-Derived Retinal Cell Types.Q47325530
Isolation and Comparative Transcriptome Analysis of Human Fetal and iPSC-Derived Cone Photoreceptor CellsQ47446480
Distribution of Pax6 protein during eye development suggests discrete roles in proliferative and differentiated visual cellsQ47682007
Multiple abnormalities due to a nonsense mutation in the Alx4 geneQ47693219
ADNP Plays a Key Role in Autophagy: From Autism to Schizophrenia and Alzheimer's DiseaseQ47756433
Mouse Alx3: an aristaless-like homeobox gene expressed during embryogenesis in ectomesenchyme and lateral plate mesodermQ47796173
Expression of the Vax family homeobox genes suggests multiple roles in eye developmentQ47943742
Role of Xrx1 in Xenopus eye and anterior brain developmentQ47967903
Stimulation of functional neuronal regeneration from Müller glia in adult mice.Q48025377
Vsx-1 and Vsx-2: two Chx10-like homeobox genes expressed in overlapping domains in the adult goldfish retinaQ48044163
Inactivation of the zebrafish homologue of Chx10 by antisense oligonucleotides causes eye malformations similar to the ocular retardation phenotypeQ48050050
Msx3: a novel murine homologue of the Drosophila msh homeobox gene restricted to the dorsal embryonic central nervous systemQ48061351
Developmental expression of a novel murine homeobox gene (Chx10): evidence for roles in determination of the neuroretina and inner nuclear layerQ48080595
The peptide NAP promotes neuronal growth and differentiation through extracellular signal-regulated protein kinase and Akt pathways, and protects neurons co-cultured with astrocytes damaged by ethanolQ48109290
Expression of three Rx homeobox genes in embryonic and adult zebrafishQ48120992
Crossing enhanced and high fidelity SpCas9 nucleases to optimize specificity and cleavage.Q48230762
A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiencyQ48234928
Activity-dependent neuroprotective protein: a novel gene essential for brain formationQ48240048
Function and expression of a splicing variant of vesicular glutamate transporter 1.Q48313628
VIP, PACAP-38, BDNF and ADNP in NMDA-induced excitotoxicity in the rat retinaQ48349620
Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutationsQ48353838
Fate map of the chicken neural plate at stage 4.Q48587267
Gene expression is dynamically regulated in retinal progenitor cells prior to and during overt cellular differentiationQ48919140
Antibodies against Pax6 immunostain amacrine and ganglion cells and neuronal progenitors, but not rod precursors, in the normal and regenerating retina of the goldfishQ49070434
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasiaQ49120156
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degenerationQ49364256
Retinal vasculature development in health and disease.Q50054522
RNA Biology in Retinal Development and DiseaseQ50067293
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvementQ50301304
Nrl knockdown by AAV-delivered CRISPR/Cas9 prevents retinal degeneration in miceQ37707929
Functions of mature mammalian astrocytes: a current viewQ37710857
Regenerative medicine for retinal diseases: activating endogenous repair mechanismsQ37715318
Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traitsQ37724216
Adult retinal stem cells revisited.Q37792810
Retinal dystrophy in the oculo-auricular syndrome due to HMX1 mutationQ37854599
Renal coloboma syndrome.Q37886657
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.Q37972823
Compartmentalization of vertebrate optic neuroephithelium: external cues and transcription factorsQ37997316
Gene networks: dissecting pathways in retinal development and diseaseQ38057928
Blood-retinal barrierQ38069550
The homeobox gene Otx2 in development and disease.Q38092515
BDNF-induced local protein synthesis and synaptic plasticityQ38100505
An eye on eye developmentQ38107712
Biochemistry of the tale transcription factors PREP, MEIS, and PBX in vertebratesQ38123141
LIM homeobox transcription factors, a novel subfamily which plays an important role in cancer (review).Q38199979
Genetics of cleft lip and/or cleft palate: association with other common anomaliesQ38207383
The genetic architecture of microphthalmia, anophthalmia and colobomaQ38214549
Splicing-correcting therapeutic approaches for retinal dystrophies: where endogenous gene regulation and specificity matterQ38215484
Functional architecture of the retina: development and diseaseQ38225243
Genetic regulation of vertebrate eye developmentQ38244962
Development of astrocytes in the vertebrate eyeQ38252545
Systemic diseases associated with retinal dystrophiesQ38261110
Regulation of photoreceptor gene transcription via a highly conserved transcriptional regulatory element by vsx gene productsQ38289656
Evolution of the Alx homeobox gene family: parallel retention and independent loss of the vertebrate Alx3 gene.Q38300266
Microarray analysis of the transcriptional network controlled by the photoreceptor homeobox gene Crx.Q38313782
Disruption of Msx-1 and Msx-2 reveals roles for these genes in craniofacial, eye, and axial developmentQ38346464
The types of retinal ganglion cells: current status and implications for neuronal classificationQ38432885
Clinical utility gene card for: renal coloboma (Papillorenal) syndromeQ38553378
Pax factors in transcription and epigenetic remodelling.Q38559249
The retinal pigmented epithelium - from basic developmental biology research to translational approachesQ38670262
Retinal fibrosis in diabetic retinopathyQ38671308
Potential Therapeutic Agents Against Retinal Diseases Caused by Aberrant Metabolism of RetinoidsQ38768185
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue5
P577publication date2020-02-26
P1433published inInternational Journal of Molecular SciencesQ3153277
P1476titleInherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes
P478volume21

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