Results 41 to 50 of about 21,361 (186)

With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley   +1 more source

The crystal structures of dystrophin and utrophin spectrin repeats: implications for domain boundaries.

PLoS ONE, 2012
Dystrophin and utrophin link the F-actin cytoskeleton to the cell membrane via an associated glycoprotein complex. This functionality results from their domain organization having an N-terminal actin-binding domain followed by multiple spectrin-repeat ...
Muralidharan Muthu, Kylie A Richardson, Andrew J Sutherland-Smith   +2 more
doaj   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Distinct functions of α-Spectrin and β-Spectrin during axonal pathfinding [PDF]

Development, 2007
Cell-shape changes during development require a precise coupling of the cytoskeleton with proteins situated in the plasma membrane. Important elements controlling the shape of cells are the Spectrin proteins that are expressed as a subcortical cytoskeletal meshwork linking specific membrane receptors with F-actin fibers.
Jörn, Hülsmeier, Jan, Pielage, Christof, Rickert, Gerd M, Technau, Christian, Klämbt, Tobias, Stork   +5 more
openaire   +2 more sources

The nitty‐gritty of vascular permeability in cancer: targeting blood endothelium to control metastases

British Journal of Pharmacology, EarlyView.
Blood vascular permeability is a hallmark of cancer and acts as an active driver of metastatic dissemination. Metastasis accounts for the vast majority of cancer deaths, yet most work has focussed on tumour‐intrinsic traits and angiogenesis, while the specific contribution of endothelial barrier regulation to intravasation and extravasation remains ...
Pierre Boucher, Mérone Da Costa Oliveira, Adrien Levesque, Alexandre Rutault, Patrick Savoyaud, Nicolas Bréchot, Stéphane Germain   +6 more
wiley   +1 more source

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval

Clinical Genetics, EarlyView.
This study reports a female proband with a de novo 9q34.11 deletion affecting SET, who underwent a 28‐year diagnostic odyssey after an atypical Rett syndrome clinical diagnosis. Genomic and proteomics analyses confirmed SET haploinsufficiency, refining the critical 9q34.11 region, and supporting speech therapy benefits in improving meaningful ...
Angelo Condell, Elaine Zhang, Tim Sikora, Sean Massey, Nicole J. Van Bergen, Min Wang, Cas Simons, Katrina M. Bell, Daniella H. Hock, David A. Stroud, David Francis, Wendy A. Gold, Martin B. Delatycki, John Christodoulou, Simranpreet Kaur   +14 more
wiley   +1 more source

Mechanical characterization of spectrin at the molecular level

Scientific Reports
Spectrin, a large cytoskeletal protein, consists of a heterodimeric structure comprising α and β subunits. Here, we have studied the mechanics of spectrin filament as a major constituent of dendrites and dendritic spines.
Md Nahian Bin Hossain, Ashfaq Adnan
doaj   +1 more source

Erythrocyte ‘Feierzeit’ reaction: Novel filamentous and vesicular response to n‐butyl acetate

Journal of Microscopy, EarlyView.
Abstract Human erythrocytes (red blood cells; RBCs) undergo spontaneous disassembly after several hours of exposure to n‐butyl acetate (nBA). Images of the morphological changes were captured in time‐lapse sequences using differential interference contrast (DIC) light microscopy.
Philip W. Kuchel
wiley   +1 more source

Presynaptic actin nanostructures: A reproducibility case study

Journal of Microscopy, EarlyView.
Abstract In an effort to assess the reproducibility of bioimage analyses in current publications, we took part in a Global BioImage Analysts’ Society (GloBIAS) initiative to try and reproduce results from published articles. We attempted to reproduce core findings from Bingham et al.
Rensu P. Theart, Florian Levet, Paul Hernández‐Herrera, Christophe Leterrier, Laura R. de la Ballina   +4 more
wiley   +1 more source

Life cycle-dependent cytoskeletal modifications in Plasmodium falciparum infected erythrocytes. [PDF]

PLoS ONE, 2013
Plasmodium falciparum infection of human erythrocytes is known to result in the modification of the host cell cytoskeleton by parasite-coded proteins. However, such modifications and corresponding implications in malaria pathogenesis have not been fully ...
Hui Shi, Zhuo Liu, Ang Li, Jing Yin, Alvin G L Chong, Kevin S W Tan, Yong Zhang, Chwee Teck Lim   +7 more
doaj   +1 more source