Results 51 to 60 of about 1,800 (131)

Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy

open access: yesFrontiers in Genetics, 2019
Even though genetic studies of individuals with neuromuscular diseases have uncovered the molecular background of many cardiac disorders such as cardiomyopathies and inherited arrhythmic syndromes, the genetic cause of a proportion of cardiomyopathies ...
Artem Kiselev   +21 more
doaj   +1 more source

Calpains, Cleaved Mini-Dysferlin(C72), and L-Type Channels Underpin Calcium-Dependent Muscle Membrane Repair [PDF]

open access: yes, 2013
Dysferlin is proposed as a key mediator of calcium-dependent muscle membrane repair, although its precise role has remained elusive. Dysferlin interacts with a new membrane repair protein, mitsugumin 53 (MG53), an E3 ubiquitin ligase that shows rapid ...
Cooper, ST   +8 more
core   +3 more sources

Acid Sphingomyelinase Regulates the Localization and Trafficking of Palmitoylated Proteins [PDF]

open access: yes, 2019
In human, loss of Acid Sphingomeylinase (ASM/SMPD1) causes Niemann-Pick Disease, type A. ASM hydrolyzes sphingomyelins to produce ceramides but protein targets of ASM remain largely unclear. ...
Kim, Yongsoon   +7 more
core   +2 more sources

Calpain cleavage and subcellular characterisation of the ferlin family. [PDF]

open access: yes, 2001
The ferlins are a family of C2-domain containing proteins. C2 domains regulate vesicle fusion in synaptotagmins, and animal models of ferlin deficiency display pathologies related to Ca2+-dependent vesicle fusion.
Casselman, Jan   +6 more
core   +2 more sources

Surface molecules of extracellular vesicles secreted by the helminth pathogen Fasciola hepatica direct their internalisation by host cells. [PDF]

open access: yesPLoS Neglected Tropical Diseases, 2019
Helminth parasites secrete extracellular vesicles (EVs) that can be internalised by host immune cells resulting in modulation of host immunity. While the molecular cargo of EVs have been characterised in many parasites, little is known about the surface ...
Eduardo de la Torre-Escudero   +10 more
doaj   +1 more source

Comparative Proteomic Analysis of Hymenolepis diminuta Cysticercoid and Adult Stages [PDF]

open access: yes, 2018
Cestodiases are common parasitic diseases of animals and humans. As cestodes have complex lifecycles, hexacanth larvae, metacestodes (including cysticercoids), and adults produce proteins allowing them to establish invasion and to survive in the hostile ...
Bien, Justyna   +6 more
core   +2 more sources

TECPR1 conjugates LC3 to damaged endomembranes upon detection of sphingomyelin exposure [PDF]

open access: yes, 2023
Invasive bacteria enter the cytosol of host cells through initial uptake into bacteria‐containing vacuoles (BCVs) and subsequent rupture of the BCV membrane, thereby exposing to the cytosol intraluminal, otherwise shielded danger signals such as glycans ...
Boyle, Keith B   +9 more
core   +2 more sources

The International Guideline for the Definition, Classification, Diagnosis and Management of Urticaria

open access: yesAllergy, EarlyView.
ABSTRACT This update and revision of the international guideline for urticaria was developed in accordance with the methods recommended by Cochrane and the Grading of Recommendations Assessment, Development and Evaluation (GRADE) working group. It is an initiative of the Global Allergy and Asthma Excellence Network (GA2LEN) and its Urticaria and ...
T. Zuberbier   +221 more
wiley   +1 more source

Multiple testing procedures under confounding

open access: yes, 2008
While multiple testing procedures have been the focus of much statistical research, an important facet of the problem is how to deal with possible confounding. Procedures have been developed by authors in genetics and statistics.
Ghosh, Debashis
core   +1 more source

Epigenetic activation of a cryptic TBC1D16 transcript enhances melanoma progression by targeting EGFR [PDF]

open access: yes, 2017
Metastasis is respoMetastasis is responsible for most cancer-related deaths, and, among common tumor types, melanoma is one with great potential to metastasize.
Berrocal, Alfonso   +29 more
core   +1 more source

Home - About - Disclaimer - Privacy