| OCULAR FEATURES ASSOCIATED WITH MUTATIONS IN ATOH7 GENE OVERLAP THOSE WITH FAMILIAL EXUDATIVE VITREORETINOPATHY. | OCULAR FEATURES ASSOCIATED WITH MUTATIONS IN ATOH7 GENE OVERLAP THOSE WITH FAMILIAL EXUDATIVE VITREORETINOPATHY.
Naruse S, Kondo H. | 03/21/2024 |
| Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR. | Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR.
Trang DT, Phu NM, Hung DM, Nhung VP, Ha NN, Thuong MTH, Ngoc TTB, Hiep NX, Ton ND, Hai NV, Ha NH., Free PMC Article | 05/5/2023 |
| Functional Characterization of an In-Frame Deletion in the Basic Domain of the Retinal Transcription Factor ATOH7. | Functional Characterization of an In-Frame Deletion in the Basic Domain of the Retinal Transcription Factor ATOH7.
Atac D, Mohn L, Feil S, Maggi K, Haenni D, Seebauer B, Koller S, Berger W., Free PMC Article | 04/16/2022 |
| Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia. | Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia.
Atac D, Koller S, Hanson JVM, Feil S, Tiwari A, Bahr A, Baehr L, Magyar I, Kottke R, Gerth-Kahlert C, Berger W. | 12/26/2020 |
| These results demonstrate the high potency of human ATOH7 in promoting early retinogenesis and specifying the retinal ganglion cells differentiation program, thus providing insight for manipulating retinal ganglion cells production from stem cell-derived retinal organoids. | Elevated expression of human bHLH factor ATOH7 accelerates cell cycle progression of progenitors and enhances production of avian retinal ganglion cells.
Zhang XM, Hashimoto T, Tang R, Yang XJ., Free PMC Article | 11/2/2019 |
| Our present results showed that the T allele of ATOH7 conferred an independent risk of non-arteritic ischemic optic neuropathy. | The polymorphisms of ATOH 7, ET-1 and ACE in non-arteritic anterior ischemic optic neuropathy.
Chen T, Ma J, Shan G, Zhong Y. | 02/16/2019 |
| In conclusion, we have identified a homozygous mutation in the ATOH7 gene in a patient with nonsyndromic congenital retinal nonattachment. | Mutations in ATOH7 gene in patients with nonsyndromic congenital retinal nonattachment and familial exudative vitreoretinopathy.
Kondo H, Matsushita I, Tahira T, Uchio E, Kusaka S. | 11/18/2017 |
| 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. | The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families.
Keser V, Khan A, Siddiqui S, Lopez I, Ren H, Qamar R, Nadaf J, Majewski J, Chen R, Koenekoop RK., Free PMC Article | 07/1/2017 |
| 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. | A Genome-Wide Association Study of Vertical Cup-Disc Ratio in a Latino Population.
Nannini DR, Torres M, Chen YI, Taylor KD, Rotter JI, Varma R, Gao X., Free PMC Article | 06/24/2017 |
| The genotype and allele frequencies of the polymorphism in ATOH7 did not show any statistically significant association with primary open angle glaucomacompared to controls. | Analysis of Polymorphism rs1900004 in Atonal bHLH Transcription Factor 7 in Saudi Patients with Primary Open Angle Glaucoma.
Kondkar AA, Mousa A, Azad TA, Sultan T, Almobarak FA, Alawad A, Altuwaijri S, Al-Obeidan SA, Abu-Amero KK. | 04/15/2017 |
| Familial linkage studies for primary angle-closure glaucoma have been performed and identified ATOH7 causative primary angle-closure glaucoma disease | Advances in glaucoma genetics.
Sakurada Y, Mabuchi F. | 11/5/2016 |
| Single nucleotide polymorphism in ATOH7 gene is associated with primary open angle glaucoma. | Genetic association of SNPs near ATOH7, CARD10, CDKN2B, CDC7 and SIX1/SIX6 with the endophenotypes of primary open angle glaucoma in Indian population.
Philomenadin FS, Asokan R, N V, George R, Lingam V, Sarangapani S., Free PMC Article | 02/27/2016 |
| 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. | Association of known common genetic variants with primary open angle, primary angle closure, and pseudoexfoliation glaucoma in Pakistani cohorts.
Micheal S, Ayub H, Khan MI, Bakker B, Schoenmaker-Koller FE, Ali M, Akhtar F, Khan WA, Qamar R, den Hollander AI., Free PMC Article | 06/27/2015 |
| Mutations within the ATOH7 gene are not implicated in the pathogenesis of optic nerve hypoplasia in our patient cohort. | Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasia.
Lim SH, St Germain E, Tran-Viet KN, Staffieri S, Marino M, Dollfus PH, Nading EB, Crowe S, Gole G, Perdomo-Trujillo Y, Haybittel M, Elder J, Pelletier V, Traboulsi E, Mackey D, Young TL., Free PMC Article | 08/9/2014 |
| This study finds that ATOH7 is associated with optic disc size but not independently with cup/disk ratio. | Clarifying the role of ATOH7 in glaucoma endophenotypes.
Venturini C, Nag A, Hysi PG, Wang JJ, Wong TY, Healey PR, Mitchell P, Hammond CJ, Viswanathan AC, Wellcome Trust Case Control Consortium 2, BMES GWAS Group. | 05/31/2014 |
| a bHLH mutation in ATOH7 causes recessive persistent hyperplasia of the primary vitreous | ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.
Prasov L, Masud T, Khaliq S, Mehdi SQ, Abid A, Oliver ER, Silva ED, Lewanda A, Brodsky MC, Borchert M, Kelberman D, Sowden JC, Dattani MT, Glaser T., Free PMC Article | 02/9/2013 |
| 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 | Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.
Khan K, Logan CV, McKibbin M, Sheridan E, Elçioglu NH, Yenice O, Parry DA, Fernandez-Fuentes N, Abdelhamed ZI, Al-Maskari A, Poulter JA, Mohamed MD, Carr IM, Morgan JE, Jafri H, Raashid Y, Taylor GR, Johnson CA, Inglehearn CF, Toomes C, Ali M., Free PMC Article | 11/24/2012 |
| combination of ATOH7 and RFTN1 SNPs increased risk to POAG, indicating their diversified effects in the complex genetics of glaucoma. | Interactive effects of ATOH7 and RFTN1 in association with adult-onset primary open-angle glaucoma.
Chen JH, Wang D, Huang C, Zheng Y, Chen H, Pang CP, Zhang M. | 03/31/2012 |
| Report Math5 expression/function in retinal ganglion cells. | Focus on Molecules: Math5 and retinal ganglion cells.
Sapkota D, Wu F, Mu X., Free PMC Article | 01/21/2012 |
| ATOH7 is significantly associated with open-angle glaucoma. | Common genetic variants associated with open-angle glaucoma.
Ramdas WD, van Koolwijk LM, Lemij HG, Pasutto F, Cree AJ, Thorleifsson G, Janssen SF, Jacoline TB, Amin N, Rivadeneira F, Wolfs RC, Walters GB, Jonasson F, Weisschuh N, Mardin CY, Gibson J, Zegers RH, Hofman A, de Jong PT, Uitterlinden AG, Oostra BA, Thorsteinsdottir U, Gramer E, Welgen-Lüssen UC, Kirwan JF, Bergen AA, Reis A, Stefansson K, Lotery AJ, Vingerling JR, Jansonius NM, Klaver CC, van Duijn CM. | 09/17/2011 |
| Polymorphisms of ATOH7, TGFBR3 and CARD10 influence the size of optic disc area. | Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area.
Khor CC, Ramdas WD, Vithana EN, Cornes BK, Sim X, Tay WT, Saw SM, Zheng Y, Lavanya R, Wu R, Wang JJ, Mitchell P, Uitterlinden AG, Rivadeneira F, Teo YY, Chia KS, Seielstad M, Hibberd M, Vingerling JR, Klaver CC, Jansonius NM, Tai ES, Wong TY, van Duijn CM, Aung T. | 08/20/2011 |
| This study demonistrated that Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease. | Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease.
Ghiasvand NM, Rudolph DD, Mashayekhi M, Brzezinski JA 4th, Goldman D, Glaser T., Free PMC Article | 07/2/2011 |
| Genome-wide association identifies ATOH7 as a major gene determining human optic disc size | Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
Macgregor S, Hewitt AW, Hysi PG, Ruddle JB, Medland SE, Henders AK, Gordon SD, Andrew T, McEvoy B, Sanfilippo PG, Carbonaro F, Tah V, Li YJ, Bennett SL, Craig JE, Montgomery GW, Tran-Viet KN, Brown NL, Spector TD, Martin NG, Young TL, Hammond CJ, Mackey DA, Macgregor S, Hewitt AW, Hysi PG, Ruddle JB, Medland SE, Henders AK, Gordon SD, Andrew T, McEvoy B, Sanfilippo PG, Carbonaro F, Tah V, Li YJ, Bennett SL, Craig JE, Montgomery GW, Tran-Viet KN, Brown NL, Spector TD, Martin NG, Young TL, Hammond CJ, Mackey DA., Free PMC Articles: PMC2883339, PMC2883339 | 09/27/2010 |
| Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator) | A genome-wide association study of optic disc parameters.
Ramdas WD, van Koolwijk LM, Ikram MK, Jansonius NM, de Jong PT, Bergen AA, Isaacs A, Amin N, Aulchenko YS, Wolfs RC, Hofman A, Rivadeneira F, Oostra BA, Uitterlinden AG, Hysi P, Hammond CJ, Lemij HG, Vingerling JR, Klaver CC, van Duijn CM., Free PMC Article | 06/30/2010 |
| Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator) | Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
Macgregor S, Hewitt AW, Hysi PG, Ruddle JB, Medland SE, Henders AK, Gordon SD, Andrew T, McEvoy B, Sanfilippo PG, Carbonaro F, Tah V, Li YJ, Bennett SL, Craig JE, Montgomery GW, Tran-Viet KN, Brown NL, Spector TD, Martin NG, Young TL, Hammond CJ, Mackey DA, Macgregor S, Hewitt AW, Hysi PG, Ruddle JB, Medland SE, Henders AK, Gordon SD, Andrew T, McEvoy B, Sanfilippo PG, Carbonaro F, Tah V, Li YJ, Bennett SL, Craig JE, Montgomery GW, Tran-Viet KN, Brown NL, Spector TD, Martin NG, Young TL, Hammond CJ, Mackey DA., Free PMC Articles: PMC2883339, PMC2883339 | 06/30/2010 |