A Novel C-Terminal Mutation in Gsdma3 (C+/H-) Leads to Alopecia and Corneal Inflammatory Response in Mice.
| Author | |
|---|---|
| Abstract |
:
Mutations in the gene encoding Gasdermin A3 (Gsdma3) have been described to cause severe skin phenotypes, including loss of sebaceous glands and alopecia, in mice. We discovered a novel C-terminal mutation in Gsdma3 in a new mouse line and characterized a less frequently reported corneal phenotype, likely caused by degeneration of Meibomian glands of the inner eyelid. |
| Year of Publication |
:
2018
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| Journal |
:
Investigative ophthalmology & visual science
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| Volume |
:
59
|
| Issue |
:
1
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| Number of Pages |
:
561-571
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| Date Published |
:
2018
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| ISSN Number |
:
0146-0404
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| DOI |
:
10.1167/iovs.17-22658
|
| Short Title |
:
Invest Ophthalmol Vis Sci
|
| Download citation |