Results 71 to 80 of about 37,333 (227)

A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone‐rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors

Human Molecular Genetics, 2018
&NA; Guanylate Cyclase‐Activating Protein 1 (GCAP1) regulates the enzymatic activity of the photoreceptor guanylate cyclases (GC), leading to inhibition or activation of the cyclic guanosine monophosphate (cGMP) synthesis depending on its Ca2+‐ or Mg2 ...
V. Marino, G. Dal Cortivo, Elisa Oppici, P. Maltese, F. D’Esposito, E. Manara, L. Ziccardi, B. Falsini, A. Magli, M. Bertelli, D. Dell’Orco   +10 more
semanticscholar   +1 more source

Delayed‐onset cord1 progressive retinal atrophy in English Springer Spaniels genetically affected with the RPGRIP1 variant

Veterinary Ophthalmology, Volume 29, Issue 1, January 2026.
Abstract Objective Cone‐rod dystrophy (cord1) is a form of progressive retinal atrophy. It is linked to an RPGRIP1 genetic variant which is the third most common canine disease variant thus far. While the variant affects various breeds, it is highly prevalent in English Springer Spaniels (ESSs).
Jennifer C. Kwok, Yu Sato, Jessica K. Niggel, Emma Ozdogan, Leonardo Murgiano, Keiko Miyadera   +5 more
wiley   +1 more source

Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare Inequalities

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Accurate classification of genomic variants is crucial to ensure correct diagnosis, genetic counseling, and clinical management of monogenic inherited disorders. Variant interpretation can be hindered in populations that are significantly underrepresented in large reference genomic databases, leading to genomic healthcare inequalities. Despite
Zantasha Khalid, Matthew Adams, Anees Muhammad, Raeesa Tehreen, Arfa Azeem, Asif Ahmed, Nishanka Ubeyratna, Claire G. Salter, Joseph S. Leslie, Nikol Voutsina, Emma L. Baple, Andrew H. Crosby, Sabika Firasat, Muhammad Tahir Sarwar, Shamim Saleha, Asma Gul, Lettie E. Rawlins   +16 more
wiley   +1 more source

Ocular evaluation and genetic test for an early Alström Syndrome diagnosis

American Journal of Ophthalmology Case Reports, 2020
Purpose: We present 3 cases of Alström syndrome (ALMS) that highlight the importance of the ophthalmic exam, as well as the diagnostic challenges and management considerations of this ultra-rare disease.
Tyler Etheridge, Elizabeth R. Kellom, Rachel Sullivan, James N. Ver Hoeve, Melanie A. Schmitt   +4 more
doaj   +1 more source

GUCY2D Cone–Rod Dystrophy-6 Is a “Phototransduction Disease” Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1

Journal of Neuroscience, 2018
The Arg838Ser mutation in retinal membrane guanylyl cyclase 1 (RetGC1) has been linked to autosomal dominant cone–rod dystrophy type 6 (CORD6). It is believed that photoreceptor degeneration is caused by the altered sensitivity of RetGC1 to calcium ...
Shinya Sato, I. Peshenko, E. Olshevskaya, V. Kefalov, A. Dizhoor   +4 more
semanticscholar   +1 more source

Hyperglycemic Hyperosmolar State as the Initial Presentation of Wolfram Syndrome: A Common Complication Revealing a Rare Disease—A Case Report

Clinical Case Reports, Volume 13, Issue 12, December 2025.
MRI brain revealing features consistent with central diabetes insipidus (Figure A), pontine atrophy (Figure B), and bilateral optic nerve atrophy (Figure C) in a young, non‐autoimmune diabetic patient: imaging clue to Wolfram syndrome. ABSTRACT Wolfram syndrome is a rare autosomal recessive disorder characterized by diabetes insipidus, diabetes ...
Sushrut Ingawale, Ishaan Shinde, Sai Teja Rachakonda, Ashmita Pandey, Ayushi Shah   +4 more
wiley   +1 more source

Brain Transcriptomics Reveals Molecular Mechanisms of Cave Adaptation in Triplophysa Loaches

Ecology and Evolution, Volume 15, Issue 12, December 2025.
This study compares brain transcriptomes of cave (Triplophysa shilinensis) and surface‐dwelling (T. xiangshuingensis) loaches to uncover molecular adaptations to subterranean life. We identified widespread gene down‐regulation in the cave ecotype, with enriched pathways in energy metabolism, circadian rhythms, sensory perception, and body coloration ...
Chunqing Li, Longting Wu, Fang Hu, Shanyuan Chen, Heng Xiao   +4 more
wiley   +1 more source

Long‐term predictive outcomes of stem cell therapy for degenerative retinal diseases

Eye &ENT Research, Volume 2, Issue 4, Page 247-263, December 2025.
Abstract Background Stem cell transplantation is a promising therapy for degenerative retinal diseases, including age‐related macular degeneration (AMD), retinitis pigmentosa (RP), and Stargardt's disease (STGD). This study quantitatively evaluates long‐term outcomes of different stem cell treatments.
Hai‐Long He, Xuan‐Yu Chen, Ming‐Xia Du, Yi‐Hui Li, Yi‐Han Wang, Zi‐Bing Jin   +5 more
wiley   +1 more source

ABCA4-related retinopathies in Lebanon

Heliyon
Variants in ATP-binding cassette transporter type A4 (ABCA4) have been linked to several forms of inherited retinal diseases (IRDs) besides the classically defined Stargardt disease (STGD), known collectively as ABCA4 retinopathies.
Mariam Ibrahim, Lama Jaffal, Alexandre Assi, Charles Helou, Said El Shamieh   +4 more
doaj   +1 more source

Clinical characteristics and ultra-widefield fundus image analysis of two siblings with Bardet-Biedl syndrome type 1 p.Met390Arg variant

American Journal of Ophthalmology Case Reports, 2020
Purpose: To present the case of two siblings with a genetic diagnosis of Bardet Biedl syndrome (BBS) type 1, yet different clinical profiles and disease manifestations.
Sofia M. Muns, BS, Lorena A. Montalvo, MD, Jose G. Vargas Del Valle, BS, Meliza Martinez, MD, Armando L. Oliver, MD, Natalio J. Izquierdo, MD   +5 more
doaj   +1 more source