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Defining the impact of melanopsin missense polymorphisms using in vivo functional rescue

Abstract:

Melanopsin (OPN4) is an opsin photopigment expressed within intrinsically photosensitive retinal ganglion cells (ipRGCs) that mediate non-image forming (NIF) responses to light. Two single nucleotide polymorphisms (SNPs) in human melanopsin (hOPN4), Pro10Leu and Thr394Ile, have recently been associated with abnormal NIF responses to light, including Seasonal Affective Disorder. It has been suggested these behavioural changes are due to altered melanopsin signalling. However, there is currentl...

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

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Publisher copy:
10.1093/hmg/ddy150

Authors


Rodgers, J More by this author
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
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Clinical Neurosciences
Hickey, DG More by this author
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Publisher:
Oxford University Press Publisher's website
Journal:
Human Molecular Genetics Journal website
Volume:
27
Issue:
15
Pages:
2589–2603
Publication date:
2018-04-30
Acceptance date:
2018-04-16
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
Pubs id:
pubs:846071
URN:
uri:ed1d0f28-89ea-4c4a-b4d2-cff933d225a4
UUID:
uuid:ed1d0f28-89ea-4c4a-b4d2-cff933d225a4
Local pid:
pubs:846071
Language:
English
Keywords:

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