| Evolutionary conservation of VSX2 super-enhancer modules in retinal development. | Evolutionary conservation of VSX2 super-enhancer modules in retinal development.
Honnell V, Sweeney S, Norrie J, Parks M, Ramirez C, Jannu AJ, Xu B, Teubner B, Lee AY, Bell C, Dyer MA., Free PMC Article | 07/18/2024 |
| Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells. | Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells.
Smirnov VM, Robert MP, Condroyer C, Navarro J, Antonio A, Rozet JM, Sahel JA, Perrault I, Audo I, Zeitz C., Free PMC Article | 12/24/2022 |
| Functional analysis of the Vsx2 super-enhancer uncovers distinct cis-regulatory circuits controlling Vsx2 expression during retinogenesis. | Functional analysis of the Vsx2 super-enhancer uncovers distinct cis-regulatory circuits controlling Vsx2 expression during retinogenesis.
Bian F, Daghsni M, Lu F, Liu S, Gross JM, Aldiri I., Free PMC Article | 08/13/2022 |
| These findings expand the clinical and molecular spectrum of RET variants in Hirschsprung disease and reveal a high frequency of RET DNVs in the Chinese population. | Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations.
Jiang Q, Wang Y, Li Q, Zhang Z, Xiao P, Wang H, Liu N, Wu J, Zhang F, Chakravarti A, Cai W, Li L., Free PMC Article | 07/11/2020 |
| In conclusion, targeted sequencing for SOX2 and VSX2 identified the etiology in two patients (7.4%) and this is the first report of SOX2 mutation from Egypt. | Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia.
Ammar THA, Ismail S, Mansour OAA, El-Shafey MM, Doghish AS, Kamal AM, Abdel-Salam GMH. | 03/31/2018 |
| Regulation of WNT signaling by VSX2 during optic vesicle patterning in human induced pluripotent stem cells has been described. | Regulation of WNT Signaling by VSX2 During Optic Vesicle Patterning in Human Induced Pluripotent Stem Cells.
Capowski EE, Wright LS, Liang K, Phillips MJ, Wallace K, Petelinsek A, Hagstrom A, Pinilla I, Borys K, Lien J, Min JH, Keles S, Thomson JA, Gamm DM., Free PMC Article | 01/27/2018 |
| marker for neurogenic potential in cultured retinal progenitor cells | VSX2 and ASCL1 Are Indicators of Neurogenic Competence in Human Retinal Progenitor Cultures.
Wright LS, Pinilla I, Saha J, Clermont JM, Lien JS, Borys KD, Capowski EE, Phillips MJ, Gamm DM., Free PMC Article | 05/28/2016 |
| The phenotype of this girl is unique and suggests a normal regulatory role for VSX2 in iris, zonule, and cone-rod development. | Lens subluxation and retinal dysfunction in a girl with homozygous VSX2 mutation.
Khan AO, Aldahmesh MA, Noor J, Salem A, Alkuraya FS. | 08/8/2015 |
| The role of visual system homeobox 2 (VSX2), using human induced pluripotent stem cells derived from a patient with microphthalmia caused by an R200Q mutation in the VSX2 homeodomain region, is reported. | Modeling human retinal development with patient-specific induced pluripotent stem cells reveals multiple roles for visual system homeobox 2.
Phillips MJ, Perez ET, Martin JM, Reshel ST, Wallace KA, Capowski EE, Singh R, Wright LS, Clark EM, Barney PM, Stewart R, Dickerson SJ, Miller MJ, Percin EF, Thomson JA, Gamm DM., Free PMC Article | 01/10/2015 |
| Mutations in VSX2 represent an important cause of autosomal recessive microphthalmia in consanguineous pedigrees. | VSX2 mutations in autosomal recessive microphthalmia.
Reis LM, Khan A, Kariminejad A, Ebadi F, Tyler RC, Semina EV., Free PMC Article | 01/28/2012 |
| study identified 3 recessive VSX2 mutations associated with isolated congenital anophthalmia or severe microphthalmia; also identified a novel inner retinal dystrophy in 2 carrier parents suggesting a semidominant effect for this particular VSX2 mutation | Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy.
Iseri SU, Wyatt AW, Nürnberg G, Kluck C, Nürnberg P, Holder GE, Blair E, Salt A, Ragge NK. | 08/9/2010 |
| major differentiation factors of the NK-cell lineage, including HOXA9, HOXA10 and ID2, were (de)regulated via PRC2 which therefore contributes to T-cell leukemogenesis. | Polycomb repressor complex 2 regulates HOXA9 and HOXA10, activating ID2 in NK/T-cell lines.
Nagel S, Venturini L, Marquez VE, Meyer C, Kaufmann M, Scherr M, MacLeod RA, Drexler HG., Free PMC Article | 08/2/2010 |
| CHX10 regulates RdCVF promoter activity in the inner retina. | The homeobox gene CHX10/VSX2 regulates RdCVF promoter activity in the inner retina.
Reichman S, Kalathur RK, Lambard S, Aït-Ali N, Yang Y, Lardenois A, Ripp R, Poch O, Zack DJ, Sahel JA, Léveillard T., Free PMC Article | 03/22/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesMutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.
Gonzalez-Rodriguez J, Pelcastre EL, Tovilla-Canales JL, Garcia-Ortiz JE, Amato-Almanza M, Villanueva-Mendoza C, Espinosa-Mattar Z, Zenteno JC. Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.
Zhang X, Li S, Xiao X, Jia X, Wang P, Shen H, Guo X, Zhang Q. | 01/20/2010 |
| Data support the hypothesis that exogenous pDNA binds to cytoplasmic shuttle proteins NM23-H2 and Chx10, and is then translocated to the nucleus using the minimal import machinery | Identification and functional characterization of cytoplasmic determinants of plasmid DNA nuclear import.
Munkonge FM, Amin V, Hyde SC, Green AM, Pringle IA, Gill DR, Smith JW, Hooley RP, Xenariou S, Ward MA, Leeds N, Leung KY, Chan M, Hillery E, Geddes DM, Griesenbach U, Postel EH, Dean DA, Dunn MJ, Alton EW., Free PMC Article | 01/21/2010 |
| Mutations in the transgenic Chx10 homeobox gene cause reduced proliferation of retinal progenitor cells during development; lack of Chx10 leads to maintenance of a dormant neural progenitor population in the adult central neural retina. | Isolation and characterisation of neural progenitor cells from the adult Chx10(orJ/orJ) central neural retina.
Kokkinopoulos I, Pearson RA, Macneil A, Dhomen NS, MacLaren RE, Ali RR, Sowden JC. | 01/21/2010 |
| These results do not support a significant role for CHX10 or MFRP mutations in primary angle closure glaucoma. | Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.
Aung T, Lim MC, Wong TT, Thalamuthu A, Yong VH, Venkataraman D, Venkatraman A, Chew PT, Vithana EN., Free PMC Article | 01/21/2010 |
| These results support the role of SOX2 in ocular development. Loss of SOX2 function results in severe eye malformation. CHX10 was not implicated with microphthalmia/anophthalmia in our patient cohort. | Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.
Zhou J, Kherani F, Bardakjian TM, Katowitz J, Hughes N, Schimmenti LA, Schneider A, Young TL., Free PMC Article | 01/21/2010 |
| CHX10 defects in microphthalmia/anophthalmia patiients of midle-eastern origin are because od shared ancestry and consanguinity. | Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar.
Faiyaz-Ul-Haque M, Zaidi SH, Al-Mureikhi MS, Peltekova I, Tsui LC, Teebi AS. | 01/21/2010 |
| CHX10 and VSX1 may control retinal bipolar cell specification or differentiation by repressing genes required for the development of other cell types | Transcriptional activity of the paired-like homeodomain proteins CHX10 and VSX1.
Dorval KM, Bobechko BP, Ahmad KF, Bremner R. | 01/21/2010 |
| CHX10 may target specific motifs to inhibit rod photoreceptor gene expression in bipolar cells | CHX10 targets a subset of photoreceptor genes.
Dorval KM, Bobechko BP, Fujieda H, Chen S, Zack DJ, Bremner R. | 01/21/2010 |