| PAX6 promotes neuroendocrine phenotypes of prostate cancer via enhancing MET/STAT5A-mediated chromatin accessibility. | PAX6 promotes neuroendocrine phenotypes of prostate cancer via enhancing MET/STAT5A-mediated chromatin accessibility.
Jing N, Du X, Liang Y, Tao Z, Bao S, Xiao H, Dong B, Gao WQ, Fang YX., Free PMC Article | 07/17/2024 |
| A positive feedback inhibition of isocitrate dehydrogenase 3beta on paired-box gene 6 promotes Alzheimer-like pathology. | A positive feedback inhibition of isocitrate dehydrogenase 3β on paired-box gene 6 promotes Alzheimer-like pathology.
Wang X, Liu Q, Yu HT, Xie JZ, Zhao JN, Fang ZT, Qu M, Zhang Y, Yang Y, Wang JZ., Free PMC Article | 05/29/2024 |
| Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia. | Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia.
Goh J, Wei H, Lai AHM, Chang B, Khan S, Syn Y, Jamuar SS, Tan EC. | 03/6/2024 |
| Reduction of lens size in PAX6-related aniridia. | Reduction of lens size in PAX6-related aniridia.
Duncan MK, Daruich A, Valleix S, Bremond-Gignac D., | 01/8/2024 |
| Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study. | Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study.
Vasilyeva TA, Marakhonov AV, Voskresenskaya AA, Kadyshev VV, Sukhanova NV, Minzhenkova ME, Shilova NV, Latyshova AA, Ginter EK, Kutsev SI, Zinchenko RA., Free PMC Article | 11/28/2023 |
| Mechanism of PAX6 overexpression in inhibiting the growth of hepatocellular carcinoma cells and promoting the killing ability of the natural killer cells. | Mechanism of PAX6 overexpression in inhibiting the growth of hepatocellular carcinoma cells and promoting the killing ability of the natural killer cells.
Zhu Q, Huang B, Wu L, Luo Q., Free PMC Article | 09/28/2023 |
| A novel missense variant expands the phenotype and genotype of PAX6-associated foveal hypoplasia accompanied by various manifestations of anterior segment dysgenesis. | A novel missense variant expands the phenotype and genotype of PAX6-associated foveal hypoplasia accompanied by various manifestations of anterior segment dysgenesis.
Yu Y, Jia H, Ma Q, Zhang R, Jiao Y., Free PMC Article | 08/10/2023 |
| Functional Characteristics of Diverse PAX6 Mutations Associated with Isolated Foveal Hypoplasia. | Functional Characteristics of Diverse PAX6 Mutations Associated with Isolated Foveal Hypoplasia.
Matsushita I, Izumi H, Ueno S, Hayashi T, Fujinami K, Tsunoda K, Iwata T, Kiuchi Y, Kondo H., Free PMC Article | 08/9/2023 |
| Novel variants in the PAX6 gene related to isolated aniridia. | Novel variants in the PAX6 gene related to isolated aniridia.
Kuchalska K, Wawrocka A, Krawczynski MR. | 07/7/2023 |
| Association of Polymorphisms in ZFHX1B and PAX6 With Anisometropia in Chinese Children: The Hong Kong Children Eye Genetics Study. | Association of Polymorphisms in ZFHX1B and PAX6 With Anisometropia in Chinese Children: The Hong Kong Children Eye Genetics Study.
Wang YY, Zhang XJ, Kam KW, Chen ZJ, Zhang Y, Tang FY, Li FF, Tam POS, Yip WWK, Young AL, Tham CC, Pang CP, Yam JC, Chen LJ., Free PMC Article | 06/7/2023 |
| A new association of PAX6 variation with Juvenile onset open angle glaucoma. | A new association of PAX6 variation with Juvenile onset open angle glaucoma.
Gupta V, Somarajan BI, Gupta S, Mahalingam K, Singh A, Sharma A. | 04/28/2023 |
| PAX6 Expression Patterns in the Adult Human Limbal Stem Cell Niche. | PAX6 Expression Patterns in the Adult Human Limbal Stem Cell Niche.
Polisetti N, Schlunck G, Reinhard T., Free PMC Article | 02/15/2023 |
| Differential role of Pax6 and its interaction with Shh-Gli1-IDH2 axis in regulation of glioma growth and chemoresistance. | Differential role of Pax6 and its interaction with Shh-Gli1-IDH2 axis in regulation of glioma growth and chemoresistance.
Farheen S, Ahmed SP, Mariyath P M M, Kausar T, Hoda MF, Arif SH, Nayeem SM, Ali A, Chosdol K, Shahi MH. | 02/13/2023 |
| Whole-genome sequencing of multiple related individuals with type 2 diabetes reveals an atypical likely pathogenic mutation in the PAX6 gene. | Whole-genome sequencing of multiple related individuals with type 2 diabetes reveals an atypical likely pathogenic mutation in the PAX6 gene.
Boehm BO, Kratzer W, Bansal V., Free PMC Article | 01/28/2023 |
| Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia. | Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia.
Tamayo A, Núñez-Moreno G, Ruiz C, Plaisancie J, Damian A, Moya J, Chassaing N, Calvas P, Ayuso C, Minguez P, Corton M., Free PMC Article | 01/28/2023 |
| DNA hypermethylation of CADM1, PAX5, WT1, RARbeta, and PAX6 genes in oropharyngeal cancer associated with human papillomavirus. | DNA hypermethylation of CADM1, PAX5, WT1, RARβ, and PAX6 genes in oropharyngeal cancer associated with human papillomavirus.
Birknerová N, Kovaříková H, Baranová I, Přikrylová A, Laco J, Vošmiková H, Gajdošová B, Hodek M, Vošmik M, Palička V, Chmelařová M., Free PMC Article | 10/29/2022 |
| PAX6 is frequently expressed in ependymal tumours and associated with prognostic relevant subgroups. | PAX6 is frequently expressed in ependymal tumours and associated with prognostic relevant subgroups.
Tabasaran J, Schuhmann M, Ebinger M, Honegger J, Renovanz M, Schittenhelm J., Free PMC Article | 10/22/2022 |
| Foveal Hypoplasia Grading in 95 Cases of Congenital Aniridia: Correlation to Phenotype and PAX6 Genotype. | Foveal Hypoplasia Grading in 95 Cases of Congenital Aniridia: Correlation to Phenotype and PAX6 Genotype.
Daruich A, Robert MP, Leroy C, DE Vergnes N, Beugnet C, Malan V, Valleix S, Bremond-Gignac D. | 07/30/2022 |
| Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts. | Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts.
Berry V, Ionides A, Pontikos N, Moore AT, Quinlan RA, Michaelides M., Free PMC Article | 07/30/2022 |
| Relative Frequencies of PAX6 Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World's Population and the Human Genome. | Relative Frequencies of PAX6 Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World's Population and the Human Genome.
Vasilyeva TA, Marakhonov AV, Kutsev SI, Zinchenko RA., Free PMC Article | 07/2/2022 |
| Prevalence of ocular anomalies is increased in women with polycystic ovary syndrome-exploration of association with PAX6 genotype. | Prevalence of ocular anomalies is increased in women with polycystic ovary syndrome-exploration of association with PAX6 genotype.
Zong Z, Kalyan S, Andres C, Akkor S, Prior JC, Patel MS. | 06/18/2022 |
| Decreased FABP5 and DSG1 protein expression following PAX6 knockdown of differentiated human limbal epithelial cells. | Decreased FABP5 and DSG1 protein expression following PAX6 knockdown of differentiated human limbal epithelial cells.
Katiyar P, Stachon T, Fries FN, Parow F, Ulrich M, Langenbucher A, Cayless A, Seitz B, Käsmann-Kellner B, Latta L, Szentmáry N. | 05/7/2022 |
| Missense mutation in the PAX6 gene can cause a complex mild variable phenotype predominated by concomitant strabismus. | Missense mutation in the PAX6 gene can cause a complex mild variable phenotype predominated by concomitant strabismus.
Shen T, Qiu X, Lin X, Lin J, Li X, Chen Q, Pan L, Wang Z, Shen H, Zhang Q, Yan J. | 04/30/2022 |
| Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia. | Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia.
Tarilonte M, Ramos P, Moya J, Fernandez-Sanz G, Blanco-Kelly F, Swafiri ST, Villaverde C, Romero R, Tamayo A, Gener B, Calvas P, Ayuso C, Corton M. | 04/30/2022 |
| miR-130a-3p Enhances the Chemosensitivity of Y79 Retinoblastoma Cells to Vincristine by Targeting PAX6 Expression. | miR-130a-3p Enhances the Chemosensitivity of Y79 Retinoblastoma Cells to Vincristine by Targeting PAX6 Expression.
Lu X, Tu H, Tang D, Huang X, Sun F. | 04/16/2022 |