Results 161 to 170 of about 86,750 (278)

Prevalence of migalastat-amenable variants in patients with Fabry disease from Brazil, Argentina, and Colombia: an observational study. [PDF]

Front Genet
Politei JM, Zarante Bahamón AM, Martins AM, Souza De Melo A, de Sa Pereira MH, Loures-Vale A, Veleva-Rotse BO, Krusinska E, Lengoc V.   +8 more
europepmc   +1 more source

Molecular dynamics simulations elucidate the misfolding mechanisms of secretion‐defective pancreatic lipase variants

The FEBS Journal, EarlyView.
Misfolding mutations in pancreatic lipase have been identified as potential contributors of chronic pancreatitis, an inflammatory disease of the human pancreas. Here, we describe the effect of these misfolding mutations on pancreatic lipase structure using molecular dynamics simulations and structural modeling.
Gyula Hoffka, András Szabó
wiley   +1 more source

Myosin inhibitor therapy in Fabry cardiomyopathy with dynamic left ventricular outflow obstruction. [PDF]

Am Heart J Plus
Lau K, Petri N, Nordbeck P.
europepmc   +1 more source

An analytical method to find the optimal parameters for gas detectors based on correlation spectroscopy using a Fabry-Perot interferometer

, 2005
Several designs of infrared absorption based gas detector use a Fabry-Perot Interferometer (FPI) to modulate the incident light. In these systems, generally the FPI's fringes are matched with very well defined rotational absorption lines of a target ...
SPIE Europe Internation Symposium on Optical System Design, Rutt, Harvey, Vargas-Rodríguez, Everardo   +2 more
core  

Brillouin–Raman micro‐mapping of silicone‐hydrogel contact lenses: Revealing chemical and mechanical heterogeneities

Journal of Microscopy, EarlyView.
Abstract Joint Brillouin–Raman micro‐spectroscopy (BRMS) enables simultaneous, non‐destructive characterisation of the mechanical and chemical properties of soft materials at the micrometre scale, combining GHz‐range viscoelastic information from acoustic modes with the vibrational fingerprint of molecular species.
Alessandra Anna Passeri, Martina Alunni Cardinali, Erika Ponzini, Silvia Tavazzi, Daniele Fioretto   +4 more
wiley   +1 more source

Artefact‐aware Brillouin microscopy framework for root mechanical phenotyping

Journal of Microscopy, EarlyView.
Abstract Plant roots continuously sense and respond to the mechanical signals of their growth environment: root cap function, mucilage secretion, and hormonal regulation jointly adapt root tip mechanics, shaping whether roots penetrate compacted layers or reorient around obstacles. Most current measurements of root mechanical properties require removal
Timm Landes, Ole Christian Hammerschmidt, Leon Pascal Wallentin, Ghulam Naseer Ud Din, Jacob Morsbach, Luis Alonso Baez, Dag Heinemann   +6 more
wiley   +1 more source

Biochemical Endocrine and Skeletal Findings in Adults with Fabry Disease: A Descriptive Single-Center Study. [PDF]

Biomolecules
Ozturk S, Kocar IC.
europepmc   +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

Fabry Disease: Integrating Molecular Pathophysiology, Precision Diagnosis, and Artificial Intelligence Toward Precision Medicine. [PDF]

Cells
Biddeci G, Spinelli G, Colomba P, Anania M, Duro G, Di Blasi F.   +5 more
europepmc   +1 more source

Fabry disease in Poland [PDF]

Polish Archives of Internal Medicine, 2018
Bazan-Socha, Stanisława, Kuczia, Paweł, Musiał, Jacek, Błażejewska-Hyżorek, Beata   +3 more
openaire   +4 more sources