Results 71 to 80 of about 5,245,219 (176)

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

ESC Heart Failure, Volume 12, Issue 2, Page 1508-1513, April 2025.
Xufei Yang, Chunlan Deng, Xiaogang Guo, Hui Yan   +3 more
wiley   +1 more source

Multiscale mechanical analysis of live breast cancer spheroids by micro‐compression and Brillouin imaging

Journal of Microscopy, EarlyView.
Abstract Recent developments in cancer mechanobiology have highlighted the importance of tumour mechanics as a potential marker of disease progression. Three‐dimensional tumour models provide simplified yet physiological relevance exhibiting mechanical heterogeneity.
Ashutosh Khaswal, Hadi Mahmodi, Ellie Mok, Thomas R. Cox, Irina Kabakova   +4 more
wiley   +1 more source

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

Topics 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, Danaja Rutar, Lorijn Zaadnoordijk, Francesco Poli, Sabine Hunnius   +4 more
wiley   +1 more source

Autophagosome maturation is impaired in Fabry disease

, 2010
Fabry disease is a lysosomal storage disorder (LSD) caused by a deficiency in alpha-galactosidase A. The disease is characterized by severe major organ involvement, but the pathologic mechanisms responsible have not been elucidated.
Brakch, N., Celine, L., Barbey, F., Ramdani, Y., Bekri, S., Brasse-Lagnel, C., Chevrier, M., Moll, Solange, Genty, D., Annie Laquerriere, A. L., Djavaheri-Mergny, M.   +10 more
core   +2 more sources

Fabry disease complicating pregnancy.

, 2010
BACKGROUND: Few cases of Fabry disease, an X-linked lysosomal storage disorder, complicating pregnancy are reported. CASE: A 36-year-old primigravida with known Fabry disease manifest with acroparesthesias, tinnitus, and hearing loss delivered a healthy ...
Wax, Joseph R, Blackstone, Jacquelyn, Cartin, Angelina, Smith, Wendy, Blaszyk, Hagen, Parent, Emily, Pinette, Michael G   +6 more
core   +1 more source

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease

Clinical Genetics, Volume 110, Issue 6, Page 686-694, December 2026.
Whole‐exome sequencing of 111 patients with suspected familial cerebral small vessel disease (CSVD) identified novel copy number variants in four patients across NOTCH3, LMNB1, and COL4A2, using bioinformatic and molecular techniques. These validated CNVs suggest structural variation is an underrecognized potential causal contributor to monogenic CSVD ...
Solomon K. Guyler, Neven Maksemous, Rodney A. Lea, Robert A. Smith, Heidi G. Sutherland, Lyn R. Griffiths   +5 more
wiley   +1 more source

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

Organoid
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, Kyung Jin Lee, Joo Hyun Jee, Hyokyung Lee, Lina Joo, Woo Hee Choi, Jongman Yoo, Hye Yun Jeong   +7 more
doaj   +1 more source

SGLT2 Inhibitors and Cardiovascular Outcomes in Patients With Fabry Disease: Observations From a Federated Research Network

Diabetes, Obesity and Metabolism, Volume 28, Issue 12, Page 11206-11216, December 2026.
ABSTRACT Background and Aim Fabry disease (FD) is frequently complicated by renal impairment and cardiovascular events; however, evidence on sodium–glucose cotransporter‐2 inhibitors (SGLT2i) in this population is scarce. Accordingly, we assessed the association between SGLT2i exposure and cardiovascular outcomes in adults with FD. Methods We conducted
Leandra Serio, Michele Rossi, Amir Askarinejad, Enrico Tartaglia, Tommaso Bucci, Enrica Marrone, Dinesh K. Kalra, Claudio Ferri, Gregory Y. H. Lip   +8 more
wiley   +1 more source

Optical‐Field Engineering and Instrumentation in Brillouin Microscopy

Advanced Photonics Research, Volume 7, Issue 11, November 2026.
Brillouin microscopy provides label‐free mechanical contrast through gigahertz light–acoustic interactions. This Review examines how optical‐field engineering and instrument architecture shape spectral precision, acquisition throughput, background rejection, spatial performance, and optical exposure.
Kangwen Tong, Feihong Lin, Xiaoyu Yang, Emiliano Descrovi, Xu Liu, Qing Yang   +5 more
wiley   +1 more source

Hydroxychloroquine‐Associated Renal Phospholipidosis: A Forgotten Complication of a Common Drug

Clinical Case Reports, Volume 14, Issue 11, November 2026.
ABSTRACT Hydroxychloroquine (HCQ) treatment in systemic lupus erythematosus can induce drug‐induced phospholipidosis mimicking Fabry disease. A 32‐year‐old woman with lupus nephritis developed podocyte “zebra bodies” on electron microscopy. Normal lyso‐Gb3 excluded Fabry disease, confirming HCQ toxicity.
Yu‐Chien Tsao, Chun‐Hsin Wu
wiley   +1 more source