Results 191 to 200 of about 15,573 (263)

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

Apoptosis of Retinal Ganglion Cells

Presented at a conference on neuroprotection at Sedona, Arizona, 2002; includes several microscopic images demonstrating cell death. Anatomy: Optic nerve; Retina; Retinal ganglion cells; Cytokines.
Alfredo A. Sadun, MD, PhD
core  

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Multi‐Targeting Ligands as Prospective Therapeutics for Alzheimer's Disease, a Prevalent Neurodegenerative Disorder: Mechanistic Insights, Emerging Targets and Drug Discovery Campaigns

Medicinal Research Reviews, Volume 46, Issue 4, Page 1173-1229, July 2026.
ABSTRACT Alzheimer's disease (AD) is a debilitating neurodegenerative condition characterized by progressive cognitive impairment, memory deterioration, and neuronal dysfunction. Its complex pathophysiology involves multiple interlinked processes, including amyloid‐β (Aβ) aggregation, tau hyperphosphorylation, oxidative stress, neuroinflammation ...
Amandeep Thakur, Mandeep Rana, Sakshi Vanjani, Kei‐Chi Liou, Rajeev Taliyan, Kunal Nepali, Chih‐Hao Yang   +6 more
wiley   +1 more source

The technical and practical implementation of fundus photography in equids

Equine Veterinary Education, Volume 38, Issue 7, Page 371-381, July 2026.
Summary Background Fundus photography is an important diagnostic tool in human and veterinary medicine. Advances in research are increasing its accessibility in human medicine. However, there is a lack of studies on modern fundus photography in animals, particularly in horses. Objectives To assess the use of a portable fundus camera developed for human
I. Vierling, B. Wollanke, V. Franzen
wiley   +1 more source

A TRIP‐nano killer silencing the pain pacemakers

The Journal of Physiology, EarlyView.
Elisabetta Cerbai
wiley   +1 more source

Circadian‐Related Serotonin/Melatonin Level Modulates Cisplatin Ototoxicity Susceptibility Depended on NOS3–NO Pathway

Journal of Pineal Research, Volume 78, Issue 4, July 2026.
ABSTRACT Hearing impairment is attributed to factors such as age, genetic predisposition, and environmental influences, among which environmental factors are considered modifiable. Among various environmental factors, the role of poor lifestyle habits is particularly critical, yet the specific mechanisms by which they contribute to hearing damage ...
Siyu Qiu, Shiyi Cai, Rong Xie, Chang Liu, Yingzi He   +4 more
wiley   +1 more source

Unlocking Photodetection Mode Switching from a Simple Lateral Design

Advanced Functional Materials, Volume 36, Issue 44, 1 June 2026.
A simple lateral 2D perovskite photodetector capable of switching among transient, continuous, and dual transient/continuous photoresponse modes is achieved by integrating photoconductive effects with capacitive coupling from the SiO2/Si substrate. Such light‐programmable photodetection mode switching enables triple‐channel information transmission and
Zijun (June) Yong, Keng‐Te Lin, Joel van Embden, Taimur Ahmed, Yumeng Du, Dashen Dong, Yiwen Mai, Junlin Lu, Sumeet Walia, Baohua Jia, Tianyi Ma   +10 more
wiley   +1 more source

Sono‐Mechanogenetics: Linking Ultrasound Physics With Cellular Mechanobiology

Advanced Science, Volume 13, Issue 33, 15 June 2026.
Sono‐mechanogenetics links ultrasound physics with cellular mechanotransduction to enable noninvasive control of engineered biological systems. Acoustic forces generate distinct deformation modes that activate intracellular signaling pathways, which can be coupled to synthetic gene circuits to regulate diverse cellular functions, including gene ...
Yunjia Qu, Fan Wei, Chi Woo Yoon, Qifa Zhou, Yingxiao Wang   +4 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source