Results 61 to 70 of about 11,284 (188)

Modelling Fabry disease with kidney organoids derived from human embryonic stem cells using CRISPR-Cas9 mediated gene editing [PDF]

open access: yesOrganoid
Background Fabry disease, a rare genetic disorder, arises from mutations in the α-galactosidase A gene (GLA), leading to Gb3 accumulation and multi-organ damage.
Su Jeong Lee   +7 more
doaj   +1 more source

Heart failure in two male patients with late‐onset Fabry mutation (IVS4 + 919G > A)

open access: yes
ESC Heart Failure, Volume 12, Issue 2, Page 1508-1513, April 2025.
Xufei Yang   +3 more
wiley   +1 more source

Beyond the Adult Mind: A Developmental Framework for Predictive Processing in Infancy

open access: yesTopics in Cognitive Science, EarlyView.
Abstract Predictive Processing has been proposed as the single unifying computation underlying all of cognition, and proponents argue that all psychological phenomena can be explained as consequences of this principle. This theoretical framework has inspired many cognitive scientists and neuroscientists, but it currently has no developmental mechanism ...
Emma K. Ward   +4 more
wiley   +1 more source

Fabry’s Disease Cardiomyopathy

open access: yesJournal of the American College of Cardiology, 2006
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Pieroni, Maurizio   +7 more
openaire   +2 more sources

Don't Sweat It: Cannabinoid CB1 Receptors Reduce Sweating in a Mouse Model

open access: yesThe FASEB Journal, Volume 40, Issue 12, 30 June 2026.
A new galvanic skin response‐based approach offers a simple method for measuring sweating in the paws of mice. This method is used to demonstrate that cannabinoid CB1 receptors reduce baseline sweating in mice, likely via inhibition of sympathetic acetylcholine release via axonal CB1 receptors.
Natalia Murataeva   +3 more
wiley   +1 more source

Cells Dynamically Adapt Their Nuclear Volumes and Proliferation Rates During Single to Multicellular Transitions

open access: yesAdvanced Science, Volume 13, Issue 31, 4 June 2026.
It is currently not well understood how cells regulate basic properties, e.g., volume and mechanics within dense multicellular environments like tumors. Here, we show that different cell types of cancer and also normal cells largely decrease their nuclear and cellular volumes in emerging cell clusters and that this is partly driven by cell cycle shifts.
Vaibhav Mahajan   +13 more
wiley   +1 more source

Podocyturia in Fabry disease

open access: yesJornal Brasileiro de Nefrologia, 2016
Fabry disease is a lysosomal storage disorder due to abnormalities in the GLA gene (Xq22). Such changes result in the reduction/absence of activity of the lysosome enzyme α-GAL, whose function is to metabolize globotriaosylceramide (Gb3). Renal disease is a major clinical outcome of the accumulation of Gb3.
Ester Miranda, Pereira   +4 more
openaire   +2 more sources

Quantum Dots for Biomedical Biosensing, NIR‐II Bioimaging, and Phototherapy: Materials Design, Signal Transduction, and Translational Barriers

open access: yesAdvanced Science, Volume 13, Issue 33, 15 June 2026.
This review outlines bottom‐up and biomimetic fabrication strategies of quantum dots, and highlights their emerging applications in biosensing, multimodal bioimaging, and intelligent cancer theranostics. It further discusses key translational barriers and future perspectives for advancing QD‐based nanomedicine toward clinical implementation.
Jie Ju   +5 more
wiley   +1 more source

Increased prevalence of peripheral vestibular disorder among patients with Fabry disease

open access: yesOrphanet Journal of Rare Diseases
Background Although peripheral vestibular disorder is a non-fatal complication of Fabry disease, fatalities have been reported in some case reports and case series.
Tzong-Hann Yang   +4 more
doaj   +1 more source

Stimuli‐Responsive Hydrogels for Optical Applications: Mechanisms, Architectures, and Translational Challenges

open access: yesAggregate, Volume 7, Issue 6, June 2026.
The review discusses stimuli‐responsive hydrogels as soft optical materials that translate physical, chemical, and biological cues into refractive‐index, scattering, birefringence, diffraction, and transparency changes. It examines major stimulus classes and photonic architectures for biosensing, waveguiding, adaptive lenses, smart windows, and therapy.
Andrés Bernal‐Ballén   +2 more
wiley   +1 more source

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