Structural modeling of a novel SLC 38A8 mutation that causes foveal hypoplasia-Reference-Cited by-同舟云学术

Structural modeling of a novel SLC 38A8 mutation that causes foveal hypoplasia

Published:2017-02-26 Issue:3 Volume:5 Page:202-209
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Toral Marcus A.¹²³,Velez Gabriel¹²³,Boudreault Katherine⁴,Schaefer Kellie A.¹²,Xu Yu⁴,Saffra Norman⁵,Bassuk Alexander G.⁶,Tsang Stephen H.⁷⁸,Mahajan Vinit B.¹²

Affiliation:

1. Omics Laboratory University of Iowa Iowa City Iowa

2. Department of Ophthalmology and Visual Sciences University of Iowa Iowa City Iowa

3. Medical Scientist Training Program University of Iowa Iowa City Iowa

4. Department of Ophthalmology University of Montreal Montreal Quebec Canada

5. Department of Ophthalmology Maimonides Medical Center Brooklyn New York

6. Department of Pediatrics University of Iowa Iowa City Iowa

7. The Barbara & Donald Jonas Laboratory of Regenerative Medicine and Bernard & Shirlee Brown Glaucoma Laboratory Departments of Ophthalmology, Pathology & Cell Biology College of Physicians & Surgeons Columbia University New York City New York

8. Edward S. Harkness Eye Institute New York‐Presbyterian Hospital New York City New York

Funder

Foundation Fighting Blindness

National Institutes of Health

Research to Prevent Blindness

National Institute of General Medical Sciences

Congressionally Directed Medical Research Programs

Doris Duke Charitable Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.266

Reference33 articles.

1. Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2

2. A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3‐24.1;Al‐Araimi M.;Mol. Vis.,2013

3. ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acids

4. Electrostatics of nanosystems: Application to microtubules and the ribosome

5. A novel RPGR mutation masquerading as Stargardt disease

Cited by 24 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Expanding the mutational and phenotypical spectrum of FHONDA syndrome;European Journal of Ophthalmology;2024-09-13

2. Novel pathogenic variants of SLC38A8 gene and literature review;European Journal of Ophthalmology;2024-03-22

3. A Slc38a8 Mouse Model of FHONDA Syndrome Faithfully Recapitulates the Visual Deficits of Albinism Without Pigmentation Defects;Investigative Opthalmology & Visual Science;2023-10-20

4. A slc38a8 mouse model of FHONDA syndrome faithfully recapitulates the visual deficits of albinism without pigmentation defects;2023-08-19

5. Novel pathogenic variants of SLC38A8 gene and literature review;2023-03-16