ATOH7 Antibody

1. In conclusion, we have identified a homozygous mutation in the ATOH7 gene in a patient with nonsyndromic congenital retinal nonattachment. PMID: 26933893
2. We evaluated 21 consanguineous NCRNA pedigrees and identified the causal mutations in known retinal genes in 13 out of our 21 families. We found mutations in ATOH7 in three families. PMID: 28192794
3. We discovered a novel SNP, rs56238729 (P = 1.22 x 10-13), in the ATOH7-PBLD region that is significantly associated with VCDR in Latino individuals. PMID: 28061514
4. The genotype and allele frequencies of the polymorphism in ATOH7 did not show any statistically significant association with primary open angle glaucomacompared to controls. PMID: 27617586
5. Familial linkage studies for primary angle-closure glaucoma have been performed and identified ATOH7 causative primary angle-closure glaucoma disease PMID: 26497787
6. Single nucleotide polymorphism in ATOH7 gene is associated with primary open angle glaucoma. PMID: 25798827
7. The significant association of three common variants in TMCO1, ATOH7, and CAV1 with primary open angle, primary angle closure, and pseudoexfoliation glaucoma was found in Pakistani cohorts. PMID: 25489222
8. Mutations within the ATOH7 gene are not implicated in the pathogenesis of optic nerve hypoplasia in our patient cohort. PMID: 23802135
9. This study finds that ATOH7 is associated with optic disc size but not independently with cup/disk ratio. PMID: 24457358
10. a bHLH mutation in ATOH7 causes recessive persistent hyperplasia of the primary vitreous PMID: 22645276
11. findings document Mendelian mutations within ATOH7 and imply a role for this molecule in the development of structures at the front as well as the back of the eye; study provides further insights into the function of ATOH7, especially its importance in retinal vascular development and hyaloid regression PMID: 22068589
12. combination of ATOH7 and RFTN1 SNPs increased risk to POAG, indicating their diversified effects in the complex genetics of glaucoma. PMID: 22222511
13. Report Math5 expression/function in retinal ganglion cells. PMID: 22019371
14. ATOH7 is significantly associated with open-angle glaucoma. PMID: 21427129
15. Polymorphisms of ATOH7, TGFBR3 and CARD10 influence the size of optic disc area. PMID: 21307088
16. This study demonistrated that Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease. PMID: 21441919
17. Genome-wide association identifies ATOH7 as a major gene determining human optic disc size PMID: 20395239

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HGNC: 13907

OMIM: 221900

KEGG: hsa:220202

STRING: 9606.ENSP00000362777

UniGene: Hs.175396