A Novel C-Terminal Mutation in Gsdma3 (C+/H-) Leads to Alopecia and Corneal Inflammatory Response in Mice.
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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
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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
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Short Title | :
Invest Ophthalmol Vis Sci
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