Results 51 to 60 of about 9,124 (223)

Animal modelling for inherited central vision loss. [PDF]

, 2016
Disease-causing variants of a large number of genes trigger inherited retinal degeneration leading to photoreceptor loss. Because cones are essential for daylight and central vision such as reading, mobility, and face recognition, this review focuses on ...
Aguirre GD, Aguirre GD, Bernstein PS, Du W, Gerke CG, Goldstein O, Hood DC, Miyadera K, Mowat FM, Pang JJ, Parsons JT, Xiao X   +11 more
core   +1 more source

The Evolution of Fabrication Methods in Human Retina Regeneration

Applied Sciences, 2021
Optic nerve and retinal diseases such as age-related macular degeneration and inherited retinal dystrophies (IRDs) often cause permanent sight loss. Currently, a limited number of retinal diseases can be treated.
Beatrice Belgio, Anna Paola Salvetti, Sara Mantero, Federica Boschetti   +3 more
doaj   +1 more source

arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs [PDF]

, 2017
Purpose: Our goal was to design a customized microarray, arrEYE, for high-resolution copy number variant (CNV) analysis of known and candidate genes for inherited retinal dystrophy (iRD) and retina expressed noncoding RNAs (ncRNAs).
Bauwens, Miriam, Cannoodt, Robrecht, Coppieters, Frauke, De Baere, Elfride, De Jaegere, Sarah, Leroy, Bart, Menten, Björn, Sante, Tom, Steyaert, Wouter, Van Cauwenbergh, Caroline, Van Laethem, Thalia, Van Schil, Kristof   +11 more
core   +2 more sources

A Novel Time-Aware Deep Learning Model Predicting Myopia in Children and Adolescents

Ophthalmology Science
Objective: To quantitatively predict children’s and adolescents’ spherical equivalent (SE) by leveraging their variable-length historical vision records. Design: Retrospective analysis.
Ana Maria Varošanec, MD, Leon Marković, MD, Zdenko Sonicki, MD, PhD   +2 more
doaj   +1 more source

Adaptive Machine Learning Framework for Optimizing the Affinity Purification of Adeno‐Associated Viral Vectors

Biotechnology and Bioengineering, EarlyView.
ABSTRACT Adeno‐associated viral (AAV) vectors for gene therapy are becoming integral to modern medicine, providing therapeutic options for diseases once deemed incurable. Currently, viral vector purification is a critical bottleneck in the gene therapy industry, impacting product efficacy and safety as well as accessibility and cost to patients ...
Kelvin P. Idanwekhai, Shriarjun Shastry, Morgan R. Hurst, Arianna Minzoni, Eduardo Barbieri, Luke Remmler, Eugene N. Muratov, Michael A. Daniele, Stefano Menegatti, Alexander Tropsha   +9 more
wiley   +1 more source

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers. [PDF]

, 2016
PurposeWe determined the phenotypic variation, disease progression, and potential modifiers of autosomal dominant retinal dystrophies caused by a splice site founder mutation, c.828+3A>T, in the PRPH2 gene.MethodsA total of 62 individuals (19 families)
Birch, David G, Bowne, Sara J, Conneely, Karen N, Daiger, Stephen P, Hughbanks-Wheaton, Dianna K, Shankar, Suma P, Stone, Edwin M, Sullivan, Lori S   +7 more
core  

Giant Cyst of Dermis-Fat Graft in a Child with MRSA—Case Report

Children
Background/Objectives: This case report presents a unique case of multiple postoperative complications, including sterile silicone implant extrusion, symblepharon formation, and the development of a giant cyst, following extensive multimodal chemotherapy
Biljana Kuzmanović Elabjer, Mirjana Bjeloš, Ana Ćurić, Daliborka Miletić, Mladen Bušić   +4 more
doaj   +1 more source

Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle

Developmental Dynamics, EarlyView.
Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell, Tracy Eng, Jeffrey D. Amack, David Pruyne   +3 more
wiley   +1 more source

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy. [PDF]

, 2015
Inherited retinal dystrophies present extensive phenotypic and genetic heterogeneity, posing a challenge for patients' molecular and clinical diagnoses.
Avila-Fernandez, A., Ayuso, C., Bontadelli, L., Corton, M., Di Gioia, S.A., Garcia-Sandoval, B., Lopez-Molina, M.I., Nikopoulos, K., Perez-Carro, R., Rivolta, C., Zurita, O.   +10 more
core   +2 more sources

Diagnostic Role of Chromatic Full-Field Stimulus Test in Rod–Cone Versus Cone Dystrophies

Biomedicines
Background: Inherited retinal dystrophies are a heterogeneous group of progressive disorders impacting photoreceptor function, often limiting the usefulness of standard electroretinography in advanced cases.
Aykut Demirkol, Esra Sahli, Baichun Hou, Promie R. Faruque, Ilay Demirkol, Kuzey Soydas, Stephen H. Tsang   +6 more
doaj   +1 more source