PMC Articles for MedGen (Select 867205) - PMC - NCBI

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Items: 7

Select item 74746711.

The Atoh7 remote enhancer provides transcriptional robustness during retinal ganglion cell development

Joel B. Miesfeld, Noor M. Ghiasvand, Brennan Marsh-Armstrong, Nicholas Marsh-Armstrong, Eric B. Miller, Pengfei Zhang, Suman K. Manna, Robert J. Zawadzki, Nadean L. Brown, Tom Glaser

Proc Natl Acad Sci U S A. 2020 Sep 1; 117(35): 21690–21700. Published online 2020 Aug 17. doi: 10.1073/pnas.2006888117

PMCID:: PMC7474671

Article PDF–2.4M

Select item 53087682.

The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families

Vafa Keser, Ayesha Khan, Sorath Siddiqui, Irma Lopez, Huanan Ren, Raheel Qamar, Javad Nadaf, Jacek Majewski, Rui Chen, Robert K. Koenekoop

Invest Ophthalmol Vis Sci. 2017 Feb; 58(2): 1028–1036. doi: 10.1167/iovs.16-20281

PMCID:: PMC5308768

Article PDF–776K

Select item 34067613.

ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous

Lev Prasov, Tehmina Masud, Shagufta Khaliq, S. Qasim Mehdi, Aiysha Abid, Edward R. Oliver, Eduardo D. Silva, Amy Lewanda, Michael C. Brodsky, Mark Borchert, Daniel Kelberman, Jane C. Sowden, Mehul T. Dattani, Tom Glaser

Hum Mol Genet. 2012 Aug 15; 21(16): 3681–3694. Published online 2012 May 29. doi: 10.1093/hmg/dds197

PMCID:: PMC3406761

Article PDF–517K

Select item 30834854.

Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease

Noor M. Ghiasvand, Dellaney D. Rudolph, Mohammad Mashayekhi, Joseph A. Brzezinski, IV, Daniel Goldman, Tom Glaser

Nat Neurosci. Author manuscript; available in PMC 2011 Nov 1.

Published in final edited form as: Nat Neurosci. 2011 May; 14(5): 578–586. Published online 2011 Mar 27. doi: 10.1038/nn.2798

PMCID:: PMC3083485

Article PDF–3.0M

Select item 88346825.

Functional Characterization of an In-Frame Deletion in the Basic Domain of the Retinal Transcription Factor ATOH7

David Atac, Lucas Mohn, Silke Feil, Kevin Maggi, Dominik Haenni, Britta Seebauer, Samuel Koller, Wolfgang Berger

Int J Mol Sci. 2022 Feb; 23(3): 1053. Published online 2022 Jan 19. doi: 10.3390/ijms23031053

PMCID:: PMC8834682

Article PDF–3.9M

Select item 97753386.

Noncoding RNAs Are Promising Therapeutic Targets for Diabetic Retinopathy: An Updated Review (2017–2022)

Mengchen Wang, Qiaoyu Li, Meiqi Jin, Zhen Wang, Xuelian Zhang, Xiaobo Sun, Yun Luo

Biomolecules. 2022 Dec; 12(12): 1774. Published online 2022 Nov 28. doi: 10.3390/biom12121774

PMCID:: PMC9775338

Article PDF–1.7M

Select item 47571327.

Bilateral persistent fetal vasculature due to a mutation in the Norrie disease protein gene

Seyedmehdi Payabvash, Jill S Anderson, David R Nascene

Neuroradiol J. 2015 Dec; 28(6): 623–627. doi: 10.1177/1971400915609350

PMCID:: PMC4757132

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