Results 41 to 50 of about 4,861,089 (141)

Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family

Frontiers in Genetics, 2017
Purpose: To show early, rapid and accurate molecular diagnosis of occult macular dystrophy (OMD) in a four-generation Chinese family with inherited macular dystrophy.Methods: In the current study, we comprehensively screened 130 genes involved in common ...
Yu-He Qi, Feng-Juan Gao, Fang-Yuan Hu, Sheng-Hai Zhang, Sheng-Hai Zhang, Sheng-Hai Zhang, Jun-Yi Chen, Wan-Jing Huang, Guo-Hong Tian, Min Wang, De-Kang Gan, Ji-Hong Wu, Ji-Hong Wu, Ji-Hong Wu, Ge-Zhi Xu, Ge-Zhi Xu, Ge-Zhi Xu   +16 more
doaj   +1 more source

Retinal dystrophies simulating geographic atrophy: A diagnostic challenge

Acta Ophthalmologica, EarlyView.
Abstract Geographic atrophy (GA) is the chronic loss of retinal pigment epithelium, photoreceptors and choriocapillaris, marking the dry late stage of age‐related macular degeneration (AMD). GA prevalence is expected to rise in the upcoming decades. Advanced GA leads to central scotomas, reducing visual acuity and quality of life, potentially resulting
Johanna M. Colijn, Frank G. Holz, Jeroen Pas, Carel Hoyng   +3 more
wiley   +1 more source

An easyguide to rare diseases in Ireland and consensus for action for government, the general public, media and political parties [PDF]

, 2020
The aims of this guide are to: • Explain what a rare disease is and how it is defined in health policy • Provide insights into living with a rare disease • Identify priorities patient advocacy groups would urge the Irish Government to include in the
IPPOSI, Health Research Charities Ireland, /, Rare Disease Ireland   +2 more
core  

Structural and biochemical basis for retinol‐binding protein 4 antagonism by tinlarebant

British Journal of Pharmacology, EarlyView.
Background and Purpose Retinol‐binding protein 4 (RBP4) is a member of the lipocalin superfamily that is connected to disease states such as insulin resistance, fatty liver disease and ocular disorders including Stargardt disease. Several retinoid and non‐retinoid antagonists of this protein have been developed for potential clinical use, but none have
Marco Bassetto, Philip D. Kiser
wiley   +1 more source

Effective delivery of large genes to the retina by dual AAV vectors

EMBO Molecular Medicine, 2013
Retinal gene therapy with adeno‐associated viral (AAV) vectors is safe and effective in humans. However, AAV's limited cargo capacity prevents its application to therapies of inherited retinal diseases due to mutations of genes over 5 kb, like Stargardt ...
Ivana Trapani, Pasqualina Colella, Andrea Sommella, Carolina Iodice, Giulia Cesi, Sonia de Simone, Elena Marrocco, Settimio Rossi, Massimo Giunti, Arpad Palfi, Gwyneth J Farrar, Roman Polishchuk, Alberto Auricchio   +12 more
doaj   +1 more source

Pitfalls in diagnosing and long‐term management of ceroid lipofuscinosis NCL4A in a mixed‐breed dog

Veterinary Record Case Reports, Volume 14, Issue 4, November 2026.
Abstract An 8‐year‐old, spayed, female, mixed‐breed dog was presented with a 9‐month history of occasionally stumbling on walks, having difficulty navigating stairs and jumping into the car. A prior computed tomography scan of the head revealed mild leptomeningeal enhancement and suggested meningoencephalitis.
Ingeborg Hein, Ines Heinreich, Florian Willmitzer, Marion Mucha   +3 more
wiley   +1 more source

Surgical Approaches for Cell Transplantation in Cell Replacement Therapy

, 2017
Human embryonic stem cell (hESC) transplantation holds great promise as a viable treatment option for neurodegenerative diseases. Transplantation of hESCs can replace dysfunctional cells or provide trophic factors to sustain degenerating cells.
Regillo, Carl D., Jayanth Sridhar, Sridhar, Jayanth, Carl D. Regillo, Sharma, Priya, Priya Sharma   +5 more
core   +1 more source

From Molecular Targets to Advanced Delivery Systems: Aptamers for Precision Ocular Therapeutics

Advanced Therapeutics, Volume 9, Issue 10, October 2026.
Aptamer‐based strategies are revolutionizing ocular disease management through highly specific molecular recognition of disease specific molecular targets. This review systematically integrates therapeutic aptamer sequences, diagnostic aptasensor platforms, and targeted delivery strategies, highlighting design principles, ocular bioavailability ...
Minal Thacker, Ka‐Ying Wong, Liping Zhou, Man‐Sau Wong, Juewen Liu   +4 more
wiley   +1 more source

The P2Y12 Receptor Antagonist Ticagrelor Reduces Lysosomal pH and Autofluorescence in Retinal Pigmented Epithelial Cells From the ABCA4-/- Mouse Model of Retinal Degeneration

Frontiers in Pharmacology, 2018
The accumulation of partially degraded lipid waste in lysosomal-related organelles may contribute to pathology in many aging diseases. The presence of these lipofuscin granules is particularly evident in the autofluorescent lysosome-associated organelles
Wennan Lu, Néstor M. Gómez, Jason C. Lim, Sonia Guha, Sonia Guha, Ann O’Brien-Jenkins, Erin E. Coffey, Keith E. Campagno, Stuart A. McCaughey, Alan M. Laties, Leif G. Carlsson, Claire H. Mitchell, Claire H. Mitchell, Claire H. Mitchell   +13 more
doaj   +1 more source

Organoids: Current Applications and Future Directions

MedComm, Volume 7, Issue 10, October 2026.
Organoids are three‐dimensional multicellular structures derived from stem cells or primary tissues that recapitulate key structural and functional features of native organs. Advances in stem cell biology, biomaterials, and bioengineering have established organoids as powerful platforms for studying human development and disease mechanisms, drug ...
Yueqi Leng, Yue Wang, Canhui Cao, Feng Deng, Weisi Lian, Xingtong Chen, Mingmei Lin, Zhonghong Zeng, Dan Mo, Shangqi Li, Yilei He, Yang Yu, Heng Pan, Ping Zhou, Rong Li   +14 more
wiley   +1 more source