Andrology, EarlyView.ABSTRACT Introduction Direct experimental investigation of Klinefelter syndrome (KS) in patients is limited because the syndrome manifests heterogeneously and affects multiple organ systems. Studying KS therefore requires a model that captures this complexity as accurately as possible while still permitting controlled experimental manipulation ...
Fariba Saadati, Joachim Wistuba
wiley +1 more source
Microtubule motors transport phagosomes in the RPE, and lack of KLC1 leads to AMD-like pathogenesis. [PDF]
, 2015 The degradation of phagosomes, derived from the ingestion of photoreceptor outer segment (POS) disk membranes, is a major role of the retinal pigment epithelium (RPE). Here, POS phagosomes were observed to associate with myosin-7a, and then kinesin-1, as
Diemer, Tanja +6 more
core +1 more source
Development of a Swine Whole Eye Transplant Ex Vivo Perfusion Protocol
Artificial Organs, EarlyView.This study establishes the first subnormothermic machine perfusion protocol for whole eye transplants in a swine model, enabling up to 18 h of preservation with stable metabolic function, limited edema, and recovery of mydriasis. ABSTRACT Background The first human Whole Eye Transplant (WET) has sparked new hope for patients who have lost vision due to
Haïzam Oubari +8 more
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Proteomic Profiling Revealed Mitochondrial Dysfunction in Photoreceptor Cells under Hyperglycemia. [PDF]
Int J Mol Sci, 2022 Lam CH, Cheung JK, Tse DY, Lam TC.
europepmc +1 more source
Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa [PDF]
, 2011 Jun Yin +3 more
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Vitreoretinal complications and surgical outcomes in patients with X‐linked retinoschisis
Acta Ophthalmologica, EarlyView.Abstract Purpose X‐linked retinoschisis (XLRS) is an inherited vitreoretinal disorder characterized by macular retinoschisis. In a subgroup of patients, peripheral retinoschisis can occur, potentially leading to complications such as vitreous haemorrhage (VH) and retinal detachment (RD).
Jonathan Hensman +11 more
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Endocannabinoids produced in photoreceptor cells in response to light activate Drosophila TRP channels. [PDF]
Sci Signal, 2022 Sokabe T +5 more
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Acta Ophthalmologica, EarlyView.Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic +10 more
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The oscillatory response of the electroretinogram and neuronal adaptation
Acta Ophthalmologica, EarlyView.Abstract After more than 50 years, there still remains a challenge and an interest to know more as well as extend and deepen our understanding of the small rapid wavelets, the oscillatory potentials (OPs), of the electroretinogram (ERG) and the neuronal adaptation of the retina.
Lillemor Wachtmeister, Anders Eklund
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Mdm1 ablation results in retinal degeneration by specific intraflagellar transport defects of photoreceptor cells. [PDF]
Cell Death Dis, 2022 Son Y, Kim SJ, Kim HY, Lee J, Kim JR.
europepmc +1 more source