Results 151 to 160 of about 5,172,195 (247)

Adaptive Optics Imaging of Inherited Retinal Disease. [PDF]

Cold Spring Harb Perspect Med, 2023
Duncan JL, Carroll J.
europepmc   +1 more source

Comparative Analysis of Salmonella typhimurium‐Induced Transcriptomic Changes in the Spleen of Beijing‐You Chickens and Guang Ming Broilers

Animal Research and One Health, EarlyView.
This study analyzed the spleen transcriptomes of different chicken breeds, identified key differentially expressed genes (EGR1, FOS, and DUSP1) that regulate resistance to Salmonella infection, and elucidated the underlying regulatory mechanisms, thereby providing new targets for disease‐resistant breeding in poultry.
Zixuan Wang, Man Deng, He Geng, Jumei Zheng, Xiang Li, Yaping Wang, Qinghe Li, Guiping Zhao, Qiao Wang   +8 more
wiley   +1 more source

Structure-Based Network Analysis of AlphaFold Structure Predictions Identifies Putative Causative Variants of Inherited Retinal Disease. [PDF]

Invest Ophthalmol Vis Sci
Hauser BM, Place EM, Luo Y, Comander J, Nathan A, Pierce EA, Bujakowska KM, Gaiha GD, Rossin EJ.   +8 more
europepmc   +1 more source

Engineering Biology Beyond Single Genes: Advances and Challenges in Multiplex Genome Editing

Animal Research and One Health, EarlyView.
Multiplex genome editing is transforming genome engineering from single‐gene perturbation to network‐level control, yet its broader application remains limited by challenges in gRNA array engineering, delivery technologies, and safety management. Emerging AI‐driven approaches are accelerating guide RNA design and CRISPR effector optimization for ...
Linli Wang, Yongbin Liu, Hongbing Han
wiley   +1 more source

Clinical heterogeneity associated with Bardet-Biedl syndrome-related genes in presumed non-syndromic inherited retinal disease. [PDF]

Front Cell Dev Biol
Azab B, Aburizeg D, Al-Slaimieh A, Naser Aldeen R, Hyasat A, Alrefae A, Albooz R, AlAref A, Alrefae AMK, Obeidat M, Hadidy A, Abu-Ameerh M, Al-Bdour M, Maswadi R, Al-Nawaiseh I.   +14 more
europepmc   +1 more source

Clock Genes Regulate Ca2+ Signaling and Mitochondrial Bioenergetics to Inhibit Sjögren Disease

Arthritis &Rheumatology, EarlyView.
Objective Although Ca2+ signaling and metabolism have been identified as key determinants for the development of Sjögren disease (SjD), the intricate connection between them and salivary gland physiology remains poorly understood. Methods Fluorescence‐based Ca2+ imaging, RNA sequencing, and mitochondrial activity were used to investigate the effects of
Viktor R. Drel, Manigandan Venkatesan, Rahul S. Jasrotia, Yuyang Sun, Viviane Nascimento da Conceicao, Neelanjan Vishnu, Shankara N. Varadarajan, Venugopal R. Bovilla, Rajender K. Motiani, Shobhan Gaddameedhi, Bibhuti B. Mishra, Muniswamy Madesh, Brij B. Singh   +12 more
wiley   +1 more source

Panel-Based population next-generation sequencing for inherited retinal degenerations

, 2016
Inherited retinopathies affect approximately two and a half million people globally, yet the majority of affected patients lack clear genetic diagnoses given the diverse range of genes and mutations implicated in these conditions. We present results from
HUMPHRIES, PETER, FARRAR, JANE
core  

Cost–benefit analysis of screening programme for diabetic retinopathy in Bulgaria

British Journal of Clinical Pharmacology, EarlyView.
Aims Late‐diagnosed diabetic retinopathy (DR) is difficult and expensive to treat. Screening programmes can identify the disease early and reduce the costs of its future treatment. This study aims to analyse the cost–benefit of screening programmes for DR.
Iva Nenkova, Yoana Lilova, Alexander Oscar, Alina Levi, Maria Kamusheva, Guenka Petrova   +5 more
wiley   +1 more source

Inherited retinal disease pathway in the UK: a patient perspective and the potential of AI. [PDF]

Br J Ophthalmol
Wong W, Sumodhee D, Morris T, Tailor B, Hollyhead C, Woof WA, Archer S, Veal C, Lobo L, Al-Khuzaei S, Daich Varela M, C de Guimaraes TA, Gomes M, Shah M, Moosajee M, Downes SM, Madhusudhan S, Mahroo OA, Webster AR, Michaelides M, Pontikos N.   +20 more
europepmc   +1 more source

Age‐related differences in hydroxychloroquine‐associated adverse events: A pharmacovigilance study based on the FDA Adverse Event Reporting System

British Journal of Clinical Pharmacology, EarlyView.
Aims This real‐world pharmacovigilance study utilizes FDA Adverse Event Reporting System (FAERS) data (2004–2024) to characterize age‐related disparities in hydroxychloroquine (HCQ)‐associated adverse events (AEs), addressing gaps in age‐stratified risk assessment. Methods Disproportionality analysis (reporting odds ratios, RORs) and parametric Weibull
Guanghan Sun, Jingrong Yang, Lei Wan, Xia Xu, Jing Wang   +4 more
wiley   +1 more source