Results 61 to 70 of about 25,332 (224)

Toward the Treatment of Inherited Diseases of the Retina Using CRISPR-Based Gene Editing

Frontiers in Medicine, 2021
Inherited retinal dystrophies [IRDs] are a common cause of severe vision loss resulting from pathogenic genetic variants. The eye is an attractive target organ for testing clinical translational approaches in inherited diseases.
Jennifer Hernández-Juárez, Genaro Rodríguez-Uribe, Genaro Rodríguez-Uribe, Shyamanga Borooah   +3 more
doaj   +1 more source

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11 ‐Related Phenotype

Clinical Genetics, Volume 109, Issue 5, Page 972-977, May 2026.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source

The leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor cilium [PDF]

, 2015
Purpose: The aim of this study was to investigate the interaction and co-localization of novel interacting proteins with the Leber congenital amaurosis (LCA) associated protein aryl hydrocarbon receptor interacting protein-like 1 (AIPL1).
Cheetham, M. E., Futter, C. E., Hidalgo-De-Quintana, J., Meschede, I. P., Morrison, E. E., Powner, M. B., Schwarz, N., Stern-Schneider, G., Van Der Spuy, J., Wolfrum, U.   +9 more
core   +8 more sources

Pathologie associée à une carence en vitamine A dans une ferme laitière marocaine [PDF]

Tropicultura, 1984
Clinical signs associated with vitamin A deficiency in a Moroccan dairy farm. In a dairy farm of the Temara area (Morocco) various observed clinical manifestations were suggestive of vitamin A deficiency.
Mahin, L., Dewulf, M., Lakhdissi, H.
doaj  

IgE And IgG Antibody Responses to α‐Gal and Association With Carotid Stenosis in Swedish Patients

Allergy, EarlyView.
Marija Perusko, Danijela Apostolovic, Jeanette Grundström, Malin Kronqvist, Mirjana Radomirovic, Anna Smed‐Sörensen, Ulf Hedin, Marianne van Hage   +7 more
wiley   +1 more source

Reversible Neurological Manifestations Preceding Biochemical Deterioration in Postpartum HELLP Syndrome—A Case Report and Literature Review

The Journal of Clinical Hypertension, Volume 28, Issue 5, May 2026.
ABSTRACT Posterior reversible encephalopathy syndrome (PRES) is a rare but severe neurological complication associated with hypertensive disorders of pregnancy and HELLP syndrome. We report a postpartum case in which neurological manifestations preceded the full biochemical expression of HELLP syndrome. A 22‐year‐old primigravida was admitted at 36 + 0
Dario Colacurci, Stefano Raffaele Giannubilo, Laura Sarno, Caterina Fulgione, Laura Letizia Mazzarelli, Angelo Sirico, Maria Liberata Meccariello, Andrea Albanese, Dayana Quintili, Irene Lubinski, Mario Ascione, Carla Riccardi, Giorgia D'Apice, Mariarosaria Motta, Sara Iannantuoni, Chiara Murolo, Giuseppe Bifulco, Costantino Di Carlo, Andrea Ciavattini, Giuseppe Maria Maruotti   +19 more
wiley   +1 more source

Retinal artery occlusion followed by contralateral amaurosis fugax in association with eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome)

American Journal of Ophthalmology Case Reports, 2020
Purpose: To describe two cases of retinal artery occlusion followed by contralateral amaurosis fugax associated with eosinophilic granulomatosis with polyangiitis (EGPA, formerly known as Churg-Strauss syndrome).
Amit K. Reddy, Marisa K. Lau, Erin G. Sieck, Jason R. Kolfenbach, Alan G. Palestine   +4 more
doaj   +1 more source

Cellular Identity Crisis: RD3 Loss Fuels Plasticity and Immune Silence in Progressive Neuroblastoma

Advanced Science, Volume 13, Issue 20, 9 April 2026.
Researchers discovered that therapy‐induced loss of RD3 protein in neuroblastoma triggers a dangerous shift: cancer cells become more stem‐like, invasive, and resistant to treatment while evading immune detection. RD3 loss suppresses antigen presentation and boosts immune checkpoints, creating an immune‐silent environment.
Poorvi Subramanian, Sreenidhi Mohanvelu, Sheeja Aravindan, Afsana Parveen Jahir Hussain, Sivasubramani Narayanan, Sabir Salim, Loganayaki Periyasamy, Natarajan Aravindan   +7 more
wiley   +1 more source

The Effect of Cone Opsin Mutations on Retinal Structure and the Integrity of the Photoreceptor Mosaic [PDF]

, 2012
Purpose. To evaluate retinal structure and photoreceptor mosaic integrity in subjects with OPN1LW and OPN1MW mutations. Methods. Eleven subjects were recruited, eight of whom have been previously described.
Banin, Eyal, Carroll, Joseph, Connor, Thomas B., Jr., Cooper, Robert F., Dubis, Adam M., Dubra, Alfredo, Fishman, Gerald, Gardner, Jessica C., Genead, Mohamed, Hardcastle, Alison J., Hunt, David M., Michaelides, Michel, Mizrahi-Meissonnier, Liliana, Moore, Anthony T., Neitz, Jay, Neitz, Maureen, Nordgren, Rick, Sharon, Dror, Stepien, Kimberly E., Williams, David R.   +19 more
core   +2 more sources

Thailand's Emerging Role in the Cell and Gene Therapy Revolution: A Review of Progress and Potential

Clinical and Translational Science, Volume 19, Issue 4, April 2026.
ABSTRACT This Perspective examines Thailand's role in cell and gene therapy, focusing on regulatory development and early clinical experience. These therapies are used in Thailand for β‐thalassemia, or blood cancer, together with the evolving ATMP regulatory framework and the ATMP Sandbox Project.
Vip Viprakasit, Warut Tulalamba, Thidarat Suksangpleng, Supachai Ekwattanakit   +3 more
wiley   +1 more source