Results 111 to 120 of about 370,744 (189)

Epigenetic regulation of gene expression in rare inherited retinal disorders

Frontiers in Genetics
The retina is a highly specialized neural tissue characterized by extreme cellular differentiation, high metabolic demand, and lifelong exposure to environmental stressors.
Feliciana Menna, Laura De Luca, Alessandro Meduri, Antonio Baldascino, Stefano Lupo, Enzo Maria Vingolo   +5 more
doaj   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2289-2308, October 2026.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Distribution of Big Tau Isoforms in the Human Central and Peripheral Nervous System

Annals of Neurology, Volume 100, Issue 4, Page 709-736, October 2026.
Objective Tau is widely studied in neurodegeneration, yet most work has focused on canonical brain tau isoforms. A longer isoform, “big tau,” produced by inclusion of exon 4a, is expressed in the peripheral nervous system (PNS) and central nervous system (CNS) regions.
Rama Krishna Koppisetti, Nicolas R. Barthélemy, Kanta Horie, Cindy V. Ly, Kaleigh F. Roberts, Srinivas Koutarapu, Richard J. Perrin, Erin E. Franklin, Chiara Pedicone, Joshua Orrick, Justin Melendez, Timothy M. Miller, Chihiro Sato, Nupur Ghoshal, Alison M. Goate, Celeste M. Karch, Randall J. Bateman, Soumya Mukherjee   +17 more
wiley   +1 more source

Bardet–Biedl Syndrome Presenting With Acute Kidney Injury Revealing Previously Undiagnosed Advanced Chronic Kidney Disease in a Young Adult: A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Bardet–Biedl syndrome (BBS) is an autosomal recessive disorder characterized by obesity, rod‐cone dystrophy, polydactyly, developmental delay, renal dysfunction, and genitourinary abnormalities. We report the case of a 27‐year‐old female with previously undiagnosed BBS who presented with acute kidney injury precipitated by acute ...
Aqeel Abbas, Nouman Amjad, Amna Faheem Mufti, Muhammad Waqas, Minahil Iqbal, Hamza Ali, Amir Habib, Yahya Samadi, Muhammad Usman Haider   +8 more
wiley   +1 more source

Fundus Autofluorescence in Inherited Retinal Disease: A Review

Cells
Fundus autofluorescence (FAF) is a non-invasive retinal imaging technique that helps visualize naturally occurring fluorophores, such as lipofuscin, and provides valuable insight into retinal diseases—particularly inherited retinal diseases (IRDs).
Jin Kyun Oh, Omar Moussa, Byron L. Lam, Jesse D. Sengillo   +3 more
doaj   +1 more source

Posttranslational Modifications of p62/SQSTM1 in Health and Disease

MedComm, Volume 7, Issue 10, October 2026.
Schematic illustration of p62 as a posttranslational modifications (PTMs)‐programmed integrator in homeostasis, pathogenesis, and therapeutic targeting. (Left) Homeostasis: In physiological states, p62, through various PTMs such as phosphorylation, ubiquitination, and acetylation, coordinates essential cellular functions.
Weikai Wang, Xin Jiang, Runing Qiu, Chandra Sugiarto Wijaya, Miaoqin Chen, Jin Wang, Liyuan Zhu, Hongchuan Jin, Lifeng Feng   +8 more
wiley   +1 more source

Multifunctional Hydrogels: Rational Design and Application in Regenerative Medicine

MedComm, Volume 7, Issue 10, October 2026.
Multifunctional hydrogels represent a paradigm shift in regenerative medicine, integrating rational material design with bioactive functionality to address complex tissue repair challenges. This review systematically examines the molecular engineering, structure–function relationships, and translational landscape of advanced hydrogel systems, spanning ...
Linyang Song, Epiphane K. Silli, Yazhen Xu, Huixia Lv, Ruoxian Song   +4 more
wiley   +1 more source

Case Report: Expanding the LRP5-phenotypic spectrum of the novel c.4462A > G (p.Ser1488Gly) variant with isolated retinal involvement

Frontiers in Pediatrics
BackgroundLRP5-related retinal disease is classically associated with familial exudative vitreoretinopathy (FEVR), whereas biallelic inactivating variants cause osteoporosis-pseudoglioma syndrome. We report a severe congenital FEVR-like retinal dysplasia
Mirjana Bjeloš, Mirjana Bjeloš, Mirjana Bjeloš, Mirjana Bjeloš, Ana Ćurić, Ana Ćurić, Benedict Rak, Mladen Bušić, Mladen Bušić, Mladen Bušić, Mladen Bušić, Katja Rončević, Adrian Elabjer   +12 more
doaj   +1 more source

Decoding pediatric inherited retinal dystrophies: Bridging genetic complexity and clinical heterogeneity

pediatric inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of disorders characterized by progressive visual function impairment, often manifesting from early childhood.
Luigi Donato, Simona Alibrandi, Giorgia Abate, Concetta Scimone, Antonina Sidoti, Domenico Mordà, Rosalia D'Angelo, Sergio Zaccaria Scalinci, Carmela Rinaldi   +8 more
core   +1 more source

Visual difficulty with internet‐enabled devices among older adults with low vision

Optometry and Vision Science, Volume 103, Issue 10, October 2026.
ABSTRACT Purpose Vision rehabilitation practitioners provide support for visual difficulty with internet devices by prescribing optical aids and/or help with accessibility features (e.g., enlarged text or enhanced contrast), but it is unknown which patients continue to experience significant difficulty with various internet devices.
Alexis G. Malkin, Micaela Gobeille, Nicole C. Ross, John E. Kaminski, Jeffrey Ho, John D. Shepherd, Kayla E. Gan, Patrick D. Yoshinaga, Ashley Deemer, Ava K. Bittner, the BeST‐AID Study Team   +10 more
wiley   +1 more source