Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.ophtha.2014.12.027 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in -Related Disease.
Genes (Basel)
December 2024
Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA.
: Disruption of results in microphthalmia with linear skin lesions (MLS) characterized by microphthalmia/anophthalmia, corneal opacity, aplastic skin lesions, variable central nervous system and cardiac anomalies, intellectual disability, and poor growth in heterozygous females. Structural variants consisting of chromosomal rearrangements or deletions are the most common variant type, but a small number of intragenic variants have been reported. : Exome sequencing identified variants affecting .
View Article and Find Full Text PDFSignificant helminthiasis, ocular defects and other disorders in an endangered population of red-billed choughs (Pyrrhocorax pyrrhocorax): A descriptive observational study.
Vet Rec
December 2024
Hill & Mountain Research Centre, Scotland's Rural College, Crianlarich, UK.
Background: The breeding population of the red-billed chough (Pyrrhocorax pyrrhocorax) in Scotland has fallen in recent years, with all breeding pairs now confined to the Hebridean islands of Islay and Colonsay. Demographic studies have shown that a significant factor in the population decline on Islay has been reduced survival from fledging to 1 year of age (juveniles). Understanding the significance of infectious and non-infectious diseases in chough mortality is crucial to the development of successful management strategies aimed at conserving breeding populations of choughs in Scotland and elsewhere.
View Article and Find Full Text PDFClinical characteristics and ultrasound biomicroscopic evaluation of anterior segment dysgenesis: a retrospective cross-sectional study.
Quant Imaging Med Surg
December 2024
Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China.
Background: Anterior segment dysgenesis (ASD) encompasses a range of congenital disorders affecting the development of the eye's anterior segment, often leading to significant visual impairment and glaucoma. Although numerous studies have focused on the genetic basis of ASD, few have comprehensively compared the clinical features across ASD subtypes. This study aims to address this gap by describing and comparing the clinical characteristics and ultrasound biomicroscopy (UBM) imaging features of various ASD subtypes in a Chinese tertiary medical center.
View Article and Find Full Text PDFAbl kinases regulate FGF signaling independent of Crk phosphorylation to prevent Peters anomaly.
bioRxiv
October 2024
Departments of Ophthalmology, Pathology and Cell Biology, Columbia University, New York, NY 10032, USA.
Article Synopsis
- Peters anomaly, a leading cause of congenital corneal opacity, is linked to corneal-lenticular adhesion and is tied to unidentified mutations and a complex disease mechanism.
- Abl kinases have been discovered as key regulators of FGF signaling, with their genetic deletion allowing lens formation even when FGF is missing, and their role appears independent of traditional ERK signaling pathways.
- The study suggests that targeting the Ptpn12-p130Cas pathway, which is influenced by Abl kinases, could offer therapeutic possibilities for addressing Peters anomaly by improving lens vesicle separation dynamics.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!