Results 91 to 100 of about 5,172,195 (247)

Common ABCA4 mutations in South Africans: frequencies, pathogenicity and genotype-phenotype correlations [PDF]

, 2010
Stargardt disease (STGD), a juvenile-onset form of macular dystrophy resulting in a severe reduction of central vision, may be inherited in either an autosomal recessive or autosomal dominant manner.
Nossek, C
core   +1 more source

Highly Sensitive Spatial Host‐Microbiome Transcriptomics in FFPE Tissues via Iterative Hydrogel Expansion

Advanced Science, EarlyView.
Ex‐spRandom is a spatial transcriptomics platform that synergizes random‐primed chemistry with iterative hydrogel expansion. By physically decrowding the dense FFPE matrix, this scalable technology shatters the traditional resolution‐sensitivity barrier.
Shunji Zhang, Mengyuan Wang, Jiaye Chen, Yuyi Zhu, Bin Zhu, Ziye Xu, Yuan Liao, Yongcheng Wang   +7 more
wiley   +1 more source

Atypical Retinitis Pigmentosa With Macular Sparing in a Patient With Compound Heterozygous ABCA4 Variants: A Case Report and Diagnostic Challenge

Clinical Case Reports
Inherited retinal dystrophies are a complex group of disorders causing progressive vision loss. The ABCA4 gene is associated with a wide spectrum of retinopathies, most commonly Stargardt disease, which is characterized by central macular degeneration ...
Na Li, Yalong Dang
doaj   +1 more source

The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes

Scientific Reports, 2017
Inherited retinal dystrophies are characterized by progressive retina degeneration and mutations in at least 250 genes have been associated as disease-causing.
Fabiana Louise Motta, Mariana Vallim Salles, Karita Antunes Costa, Rafael Filippelli-Silva, Renan Paulo Martin, Juliana Maria Ferraz Sallum   +5 more
doaj   +1 more source

In Vivo Direct Reprogramming: Current Progress and Future Prospects from Mechanisms to Therapeutic Application

Advanced Science, EarlyView.
This review examines the potential of in vivo direct reprogramming in regenerative medicine for functional tissue restoration, highlighting the role of tissue‐resident cues in generating functionally mature reprogrammed cells from lineage‐related cells. It contains a discussion on mechanisms, reprogramming factors, delivery approaches, and applications
Rishabh Deo Singh, Mauro Calvoli, Kyeong Kyu Kim   +2 more
wiley   +1 more source

SerpinA3 is an Endogenous TGF‐β Receptor Antagonist that Attenuates Cardiac Fibroblast Activation and Fibrotic Remodeling

Advanced Science, EarlyView.
SerpinA3 acts as an endogenous TGF‐β receptor antagonist that binds to the extracellular domain of TGFR‐1, thereby preventing TGFR‐1–TGFR‐2 complex formation. This receptor‐level blockade suppresses TGF‐β/Smad2/3 signaling, attenuates cardiac fibroblast activation, and extracellular matrix deposition, and ultimately alleviates pressure overload–induced
Hui Wang, Jieyu Cui, Chunlu Huang, Wanyi Guo, Tong Liu, Yi Zhu, Shuai Shao, Kangyin Chen, Jinlong He, Qiankun Bao   +9 more
wiley   +1 more source

Neovascular Glaucoma in MELAS syndrome

American Journal of Ophthalmology Case Reports
Purpose: To describe examination and findings in a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) with particular focus on the ocular sequelae from diabetes.
Saira Khanna, Bradley T. Smith
doaj   +1 more source

Potential of Nanoparticle‐Based Phototherapies for Future Treatment of Uveal Melanoma

Advanced Science, EarlyView.
This review evaluates nanoparticle‐based phototherapies for uveal melanoma, highlighting emerging strategies to enhance tumor targeting, light delivery, and treatment precision. Preclinical data indicate improved efficacy and reduced toxicity, supporting their potential to enhance localized treatment and future translational advances. (Generated by the
Emilie Lambert, Christophe Nguyen, Sean Edward Dunn, Magali Gary‐Bobo, Jérôme Lacombe, Justin Moser, Frédéric Zenhausern, Jean‐Olivier Durand, Frédérique Cunin   +8 more
wiley   +1 more source

Understanding of and attitudes to genetic testing for inherited retinal disease: a patient perspective.

, 2013
The views of people with inherited retinal disease are important to help develop health policy and plan services. This study aimed to record levels of understanding of and attitudes to genetic testing for inherited retinal disease, and views on the ...
McKibbin, M, Willis, TA, Downey, L, Ahmed, M, Gale, R, Potrata, B, Hewison, J   +6 more
core   +1 more source

Quantitative Visualization of Intracellular Nanometabolism Using Peak‐Shifted Dual‐State Emissive FRET Nanoprobes

Advanced Science, EarlyView.
This study reveals the long‐elusive intracellular dissolution mechanism of carrier‐free nanomedicines. By utilizing peak‐shifted dual‐state emissive FRET nanoprobes (PDFNPs) that undergo a distinct ratiometric fluorescence peak shift upon disassembly, we achieve real‐time, quantitative tracking of dissolution kinetics in live cells.
Farsai Taemaitree, Jinwoo Sung, Yutaro Miki, Ryuju Suzuki, Yoshitaka Koseki, Kunikazu Ishii, Minsang Kim, Keita Tanita, Kota Sato, Toru Nakazawa, Satoshi Katsube, Daisuke Unabara, Tasuku Hamaguchi, Keisuke Kawakami, Koji Yonekura, Akihide Hibara, Atsushi Wakamiya, Hiroshi Uji‐I, Hitoshi Kasai   +18 more
wiley   +1 more source