Results 181 to 190 of about 33,802 (359)

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11‐Related Phenotype

open access: yesClinical Genetics, EarlyView.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson   +11 more
wiley   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

open access: yesClinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau   +7 more
wiley   +1 more source

Therapeutic keratopigmentation Vis-à-Vis in blind eyes: complications and outcomes in a series of 184 eyes. [PDF]

open access: yesFront Med (Lausanne)
da Costa AX   +4 more
europepmc   +1 more source

Stage‐Associated Microglial Subpopulations and Dynamics in Vascular Pathogenesis of Oxygen‐Induced Retinopathy

open access: yesCell Proliferation, EarlyView.
In the oxygen‐induced retinopathy (OIR) mouse model, two distinct microglial subpopulations play opposing roles: highly glycolytic microglia (HGM) promote neovascular formation via Pkm2, while Mrc1/CD206‐positive phagocytosis‐associated microglia (PAM) facilitate its regression.
Yuan Ma   +20 more
wiley   +1 more source

Femtosecond Spectroscopy of the Primary Events of Bacterial Photosynthesis [PDF]

open access: yes, 1986
Dobler, J.   +4 more
core   +1 more source

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