Results 111 to 120 of about 417,668 (180)

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

Prevalence of AIPL1 mutations in inherited retinal degenerative disease

, 2000
Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy and the most frequent cause of inherited blindness in children.
Payne, Annette M., Birch, David G, Koenekoop, Robert, Bhattacharya, Shomi S., Kaplan, Josseline, Meire, Françoise M., Daiger, Stephen P, Leroy, Bart P., Maumenee, Irene H., Meire, Françoise, Sohocki, Melanie M., Heckenlively, John R, Sohocki, Melanie M, Payne, Annette M, Dharmaraj, Sharola, Daiger, Stephen P., Heckenlively, John R., Maumenee, Irene H, Leroy, Bart, Perrault, Isabelle, Bhattacharya, Shomi S, Birch, David G.   +21 more
core   +1 more source

Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy. [PDF]

Sci Rep, 2022
Testa F, Melillo P, Di Iorio V, Iovino C, Farinaro F, Karali M, Banfi S, Rossi S, Della Corte M, Simonelli F.   +9 more
europepmc   +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

GNB1-Related Rod-Cone Dystrophy: A Case Report

Case Reports in Ophthalmology
Introduction: The GNB1 (guanine nucleotide-binding protein, β1) gene encodes for the ubiquitous β1 subunit of heterotrimeric G proteins, which are associated with G-protein-coupled receptors (GPCRs).
Giovanni Marco Conti, Francesca Cancellieri, Mathieu Quinodoz, Karolina Kaminska, Veronika Vaclavik, Carlo Rivolta, Hoai Viet Tran   +6 more
doaj   +1 more source

Chronic Proinflammatory Signaling Accelerates the Rate of Degeneration in a Spontaneous Polygenic Model of Inherited Retinal Dystrophy. [PDF]

Front Pharmacol, 2022
Hollingsworth TJ, Wang X, White WA, Simpson RN, Jablonski MM.   +4 more
europepmc   +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

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

Notch Inhibition Promotes Regeneration and Immunosuppression Supports Cone Survival in a Zebrafish Model of Inherited Retinal Dystrophy. [PDF]

J Neurosci, 2022
Fogerty J, Song P, Boyd P, Grabinski SE, Hoang T, Reich A, Cianciolo LT, Blackshaw S, Mumm JS, Hyde DR, Perkins BD.   +10 more
europepmc   +1 more source