Specific ablation of Hippo signalling component Yap1 in retinal progenitors and Müller cells results in late onset retinal degeneration
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Cellular Physiology"
DOI: 10.1002/jcp.30757
Abstract: Yes‐associated protein (YAP) is a major component of the Hippo pathway involved in development, growth, repair and homeostasis. Nonsense YAP1 mutations in humans result in autosomal dominant coloboma. Here, we generated a conditional knockout mouse… read more here.
Keywords: degeneration; retinal degeneration; onset retinal; hippo ... See more keywords
Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene
Sign Up to like & getrecommendations! Published in 2021 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2021.1923041
Abstract: ABSTRACT Background: Late-onset retinal degeneration (L-ORD) is a rare autosomal dominant retinal dystrophy related to C1QTNF5 gene variants. Materials and methods: Twenty-six patients (21–81 years) with L-ORD due to c.562C>A p.(Pro188Thr) with a mean follow-up… read more here.
Keywords: late onset; onset retinal; 562c pro188thr; retinal degeneration ... See more keywords
Quantitative analysis of longitudinal changes in multimodal imaging of Late-Onset Retinal Degeneration.
Sign Up to like & getrecommendations! Published in 2020 at "Retina"
DOI: 10.1097/iae.0000000000003082
Abstract: PURPOSE To quantitatively analyze clinically relevant features on longitudinal multimodal imaging of L-ORD (late-onset retinal degeneration) to characterize disease progression. METHODS Fundus autofluorescence (FAF), infrared reflectance (IR), and optical coherence tomography (OCT) imaging of 4… read more here.
Keywords: onset retinal; multimodal imaging; late onset; rpd ... See more keywords