9 citations
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June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
November 2025 in “Journal of Pharmacy and Pharmacology” This review highlights pigment epithelium-derived factor's roles in ageing and development, focusing on its antioxidant functions and support of stem cell survival, but reports no new experimental results.
April 2025 in “Experimental Eye Research” In this study, researchers characterized the retinal structure and function of the Oatrhg mouse model of gyrate atrophy, finding localized atrophy without significant retina-wide functional impact, suggesting the model may be useful for testing new treatments using multimodal retinal imaging.
50 citations
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November 2010 in “Otolaryngologic Clinics of North America” This review discusses the oral manifestations associated with hematologic conditions and nutritional deficiencies, without presenting new research results; it emphasizes the impact of blood disorders and vitamin deficiencies on oral health.
9 citations
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January 2014 in “Molecular Genetics and Metabolism Reports” This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.