A Novel C-Terminal Mutation in Gsdma3 (C+/H−) Leads to Alopecia and Corneal Inflammatory Response in Mice | Zendy

Sebastian Swirski | Zendy; Carsten Röger | Zendy; Aldona Pieńkowska-Schelling | Zendy; Cynthia Ihlenburg | Zendy; Gösta Fischer | Zendy; O. Lloyd May | Zendy; Mariann Vorm | Zendy; Marta OwczarekLipska | Zendy; John Neidhardt | Zendy

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A Novel C-Terminal Mutation in Gsdma3 (C+/H−) Leads to Alopecia and Corneal Inflammatory Response in Mice

Author(s) -

Sebastian Swirski,

Carsten Röger,

Aldona Pieńkowska-Schelling,

Cynthia Ihlenburg,

Gösta Fischer,

O. Lloyd May,

Mariann Vorm,

Marta OwczarekLipska,

John Neidhardt

Publication year - 2018

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.17-22658

Subject(s) - meibomian gland , phenotype , eyelid , pathology , biology , sanger sequencing , mutation , corneal ulceration , corneal inflammation , cornea , conjunctiva , inflammation , medicine , gene , genetics , ophthalmology , immunology

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.

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