Protein profiling of conjunctival impression cytology samples of aniridia subjects

Purpose Congenital aniridia is a rare disease, which is in most cases related to PAX6 haploinsufficiency. Aniridia associated keratopathy (AAK) also belongs to ocular signs of congenital aniridia. In AAK, there is corneal epithelial thinning, corneal inflammation, vascularization and scarring. In ad...

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Veröffentlicht in:	Acta ophthalmologica (Oxford, England) Jg. 102; H. 4; S. e635 - e645
Hauptverfasser:	Stachon, Tanja, Fecher‐Trost, Claudia, Latta, Lorenz, Yapar, Dalya, Fries, Fabian N., Meyer, Markus R., Käsmann‐Kellner, Barbara, Seitz, Berthold, Szentmáry, Nóra
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	England Wiley Subscription Services, Inc 01.06.2024
Schlagworte:	Adolescent Adult Aniridia Aniridia - diagnosis Aniridia - genetics Aniridia - metabolism Apoptosis Biosynthesis Cellular biology congenital aniridia conjunctiva Conjunctiva - metabolism Conjunctiva - pathology Cornea Cytodiagnosis Cytology Epithelial cells Epithelium Eye Proteins - genetics Eye Proteins - metabolism Female Haploinsufficiency Humans Lipid metabolism Male Mass Spectrometry Mass spectroscopy Metabolism Middle Aged Pax6 protein Proteins Proteomics Proteomics - methods Retinoic acid Signal transduction Therapeutic targets Vascularization Vitamin A Young Adult proteomics congenital aniridia conjunctiva
ISSN:	1755-375X, 1755-3768, 1755-3768
Online-Zugang:	Volltext
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