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Journal article

Functional characterisation of naturally occurring mutations in human melanopsin

Abstract:

Melanopsin is a blue light-sensitive opsin photopigment involved in a range of non-image forming behaviours, including circadian photoentrainment and the pupil light response. Many naturally occurring genetic variants exist within the human melanopsin gene (OPN4), yet it remains unclear how these variants affect melanopsin protein function and downstream physiological responses to light. Here, we have used bioinformatic analysis and in vitro expression systems to determine the functional phen...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1007/s00018-018-2813-0

Authors


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ORCID:
0000-0001-5756-1974
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Clinical Neurosciences
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Clinical Neurosciences
ORCID:
0000-0002-1051-6428
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Clinical Neurosciences
Publisher:
Springer Publisher's website
Journal:
Cellular and Molecular Life Sciences Journal website
Volume:
75
Issue:
19
Pages:
3609–3624
Publication date:
2018-04-26
Acceptance date:
2018-04-05
DOI:
EISSN:
1420-9071
ISSN:
1420-682X
Pubs id:
pubs:846072
URN:
uri:f724a7a9-d33c-42f7-8335-2e10a7f692ad
UUID:
uuid:f724a7a9-d33c-42f7-8335-2e10a7f692ad
Local pid:
pubs:846072

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