Identification of a novelRPGRIP1mutation in an Iranian family with leber congenital amaurosis by exome sequencing-Reference-Cited by-同舟云学术

Identification of a novelRPGRIP1mutation in an Iranian family with leber congenital amaurosis by exome sequencing

Published:2017-11-29 Issue:3 Volume:22 Page:1733-1742
ISSN:1582-1838
Container-title:Journal of Cellular and Molecular Medicine
language:en
Short-container-title:J. Cell. Mol. Med.

Author:

Imani Saber¹²³,Cheng Jingliang¹,Mobasher-Jannat Abdolkarim³⁴,Wei Chunli¹,Fu Shangyi⁵⁶,Yang Lisha¹,Jadidi Khosrow⁷,Khosravi Mohammad Hossein⁴,Mohazzab-Torabi Saman⁸,Shasaltaneh Marzieh Dehghan⁹¹⁰,Li Yumei⁶,Chen Rui⁶,Fu Junjiang¹²^ORCID

Affiliation:

1. Key Laboratory of Epigenetics and Oncology; Research Center for Preclinical Medicine; Southwest Medical University; Luzhou Sichuan China

2. Hunan Normal University Medical College; Changsha Hunan China

3. Chemical Injuries Research Center; Baqiyatallah University of Medical Sciences; Tehran Iran

4. Student Research Committee; Baqiyatallah University of Medical Sciences; Tehran Iran

5. The Honors College; University of Houston; Houston TX USA

6. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston TX USA

7. Department of Ophthalmology; Baqiyatallah University of Medical Sciences; Tehran Iran

8. Eye Research Center; Farabi Eye Hospital; Tehran University of Medical Sciences; Tehran Iran

9. Laboratory of Neuro-organic Chemistry; Institute of Biochemistry and Biophysics (IBB); University of Tehran; Tehran Iran

10. Laboratory of Systems Biology and Bioinformatics (LBB); Institute of Biochemistry and Biophysics; University of Tehran; Tehran Iran

Funder

National Natural Science Foundation of China

Science and Technology Innovation Team of Colleges

Universities of Sichuan Province in China

Department of Science and Technology of Sichuan Province

Education Department of Sichuan Province

Research Foundation of the Science and Technology Department of Liuzhou city

Publisher

Wiley

Subject

Cell Biology,Molecular Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jcmm.13454/fullpdf

Reference52 articles.

1. An overview of Leber congenital amaurosis: a model to understand human retinal development;Koenekoop;Surv Ophthalmol,2004

2. Amaurosis congenita (Leber);Schappert-Kimmijser;AMA Arch Ophthalmol,1959

3. Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson memorial lecture;Stone;Am J Ophthalmol,2007

4. The molecular basis of human retinal and vitreoretinal diseases;Berger;Prog Retin Eye Res,2010

5. Vision in Leber congenital amaurosis;Fulton;Arch Ophthalmol,1996

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. Dermokine mutations contribute to epithelial-mesenchymal transition and advanced melanoma through ERK/MAPK pathways;PLOS ONE;2023-07-11

2. Novel pathogenic CERKL variant in Iranian familial with inherited retinal dystrophies: genotype–phenotype correlation;3 Biotech;2023-05-06

3. Natural disease history of a canine model of oligogenic RPGRIP1-cone-rod dystrophy establishes variable effects of previously and newly mapped modifier loci;Human Molecular Genetics;2023-03-23

4. Dermokine mutations contribute to epithelial-mesenchymal transition and advanced melanoma through ERK/MAPK pathways;2023-01-13

5. Identifying two pathogenic variants in a patient with pigmented paravenous retinochoroidal atrophy;Open Life Sciences;2023-01-01