A novel proline substitution (Arg201Pro) in alpha helix 8 of TMEM98 causes autosomal dominant nanophthalmos-4, closed angle glaucoma and attenuated visual acuity-Reference-Cited by-同舟云学术

A novel proline substitution (Arg201Pro) in alpha helix 8 of TMEM98 causes autosomal dominant nanophthalmos-4, closed angle glaucoma and attenuated visual acuity

Published:2021-04 Issue: Volume:205 Page:108497
ISSN:0014-4835
Container-title:Experimental Eye Research
language:en
Short-container-title:Experimental Eye Research

Author:

Koenighofer Martin^ORCID,Parzefall Thomas^ORCID,Frohne Alexandra,Frei Elisabeth,Waldstein Sebastian M.^ORCID,Mitulovic Goran,Schoefer Christian,Frei Klemens,Lucas Trevor^ORCID

Funder

Oesterreichische Nationalbank

Publisher

Elsevier BV

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Reference26 articles.

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3. The BioGRID interaction database: 2017 update;Chatr-Aryamontri;Nucleic Acids Res.,2017

4. The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specification;Cross;PLoS Genet.,2020

5. Missense mutations in the human nanophthalmos gene TMEM98 cause retinal defects in the mouse;Cross;Invest. Ophthalmol. Vis. Sci.,2019

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1. Clinical features of patients with mutations in genes for nanophthalmos;British Journal of Ophthalmology;2024-05-14

2. Clinical update in nanophthalmos: Features, diseases and complications associated;Archivos de la Sociedad Española de Oftalmología (English Edition);2023-12

3. Actualización clínica en nanoftalmos: características, enfermedades y complicaciones asociadas;Archivos de la Sociedad Española de Oftalmología;2023-12

4. Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse;Scientific Reports;2023-07-07