New variants and in silico analyses in GRK1 associated Oguchi disease-Reference-Cited by-同舟云学术

New variants and in silico analyses in GRK1 associated Oguchi disease

Published:2020-11-30 Issue:2 Volume:42 Page:164-176
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Poulter James A.¹^ORCID,Gravett Molly S. C.²,Taylor Rachel L.³,Fujinami Kaoru⁴⁵⁶⁷^ORCID,De Zaeytijd Julie⁸,Bellingham James⁶,Rehman Atta Ur⁹,Hayashi Takaaki¹⁰,Kondo Mineo¹¹,Rehman Abdur¹²,Ansar Muhammad¹³,Donnelly Dan¹⁴,Toomes Carmel¹,Ali Manir¹,De Baere Elfride⁸,Leroy Bart P.⁸¹⁵,Davies Nigel P.¹⁶,Henderson Robert H.¹⁷,Webster Andrew R.⁵⁶,Rivolta Carlo¹⁸¹³¹⁹^ORCID,Zeitz Christina²⁰,Mahroo Omar A.⁵⁶,Arno Gavin⁴⁵⁶,Black Graeme C. M.³²¹,McKibbin Martin¹²²,Harris Sarah A.²³,Khan Kamron N.¹²¹,Inglehearn Chris F.¹,

Affiliation:

1. Division of Molecular Medicine, Leeds Institute of Medical Research University of Leeds Leeds UK

2. School of Molecular and Cellular Biology, University of Leeds Leeds UK

3. Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health University of Manchester Manchester UK

4. National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Centre Tokyo Japan

5. Moorfields Eye Hospital London UK

6. UCL Institute of Ophthalmology London UK

7. Keio University School of Medicine Tokyo Japan

8. Ghent University Ghent Belgium

9. Division of Genetic Medicine, Centre Hospitalier Universitaire Vaudois (CHUV) University of Lausanne Lausanne Switzerland

10. The Jikei University School of Medicine Tokyo Japan

11. Mie University Graduate School of Medicine Mie Japan

12. Department of Genetics, Faculty of Science Hazara University Mansehra Dhodial Pakistan

13. Clinical Research Center, Institute of Molecular and Clinical Ophthalmology Basel (IOB) Basel Switzerland

14. School of Biomedical Sciences, University of Leeds Leeds UK

15. Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

16. St Thomas's Hospital London UK

17. Department of Ophthalmology Great Ormond Street Hospital London UK

18. Department of Genetics and Genome Biology University of Leicester Leicester UK

19. Department of Ophthalmology University Hospital Basel Basel Switzerland

20. Sorbonne Université INSERM, CNRS, Institut de la Vision Paris France

21. Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust Manchester UK

22. Leeds Teaching Hospitals NHS Trust, St James’ University Hospital Leeds UK

23. School of Physics and Astronomy, University of Leeds Leeds UK

Funder

Fight for Sight UK

Engineering and Physical Sciences Research Council

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24140

Reference42 articles.

1. A method and server for predicting damaging missense mutations

2. AGC protein kinases: From structural mechanism of regulation to allosteric drug development for the treatment of human diseases

3. ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules

4. A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family;Azam M.;Molecular Vision,2009

5. Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man

Cited by 6 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. Deletion of Emc1 in photoreceptor cells causes retinal degeneration in mice;The FEBS Journal;2023-05-19

2. A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family;BMC Ophthalmology;2023-03-23

3. Genetic analysis and clinical features of three Chinese patients with Oguchi disease;Documenta Ophthalmologica;2022-11-22

4. A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family;2022-08-17

5. Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease;BMC Ophthalmology;2022-05-12