PLoS ONE, 2012 Mutations in the dysferlin gene are the cause of Limb-girdle Muscular Dystrophy type 2B and Miyoshi Myopathy. The dysferlin protein has been implicated in sarcolemmal resealing, leading to the idea that the pathophysiology of dysferlin deficiencies is ...
William Lostal +13 more
doaj +1 more source
Leptin augments coronary vasoconstriction and smooth muscle proliferation via a Rho kinase dependent pathway [PDF]
, 2016 Leptin has been implicated as a key upstream mediator of pathways associated with coronary vascular dysfunction and disease. The purpose of this investigation was to test the hypothesis that leptin modifies the coronary artery proteome and promotes ...
Goodwill, Adam G. +4 more
core +3 more sources
The Extracellular Vesicles of the Helminth Pathogen, Fasciola hepatica: Biogenesis Pathways and Cargo Molecules Involved in Parasite Pathogenesis [PDF]
, 2015 Extracellular vesicles (EVs) released by parasites have important roles in establishing and maintaining infection. Analysis of the soluble and vesicular secretions of adult Fasciola hepatica has established a definitive characterization of the total ...
Bernal, Dolores +11 more
core +1 more source
Divergent roles of mitochondria dynamics in pancreatic ductal adenocarcinoma [PDF]
, 2022 Pancreatic ductal adenocarcinoma (PDAC) is one of the most aggressive tumors; it is often diagnosed at an advanced stage and is hardly treatable.
Ambrosini, Giulia +4 more
core +1 more source
Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity. [PDF]
PLoS ONE, 2010 Dysferlin is critical for repair of muscle membranes after damage. Mutations in dysferlin lead to a progressive muscular dystrophy. Recent studies suggest additional roles for dysferlin.
Antoine de Morrée +7 more
doaj +1 more source
Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor : a systematic review of qualitative evidence [PDF]
, 2021 BACKGROUND Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) (HAEnCI) is associated with skin swellings, abdominal attacks, and the risk of asphyxia due to upper airway obstruction.
Bork, Konrad +5 more
core +1 more source
Frontiers in Cell and Developmental Biology, 2021 Distant metastasis is a major cause of treatment failure in nasopharyngeal carcinoma (NPC) patients. Cell surface proteins represent attractive targets for cancer diagnosis or therapy. However, the cell surface proteins associated with NPC metastasis are
Maoyu Li +10 more
doaj +1 more source
TNFRSF11B computational development network construction and analysis between frontal cortex of HIV encephalitis (HIVE) and HIVE-control patients [PDF]
, 2010 Background TNFRSF11B computational development network construction and analysis of frontal cortex of HIV encephalitis (HIVE) is very useful to identify novel markers and potential targets for prognosis and therapy.
Ju X Huang, L Wang, Ming H Jiang
core +1 more source
The multifactorial impact of receiving a hereditary angioedema diagnosis
World Allergy Organization Journal, 2023 Hereditary angioedema (HAE) is a rare, chronic, debilitating genetic disorder characterized by recurrent, unpredictable, and potentially life-threatening episodes of swelling that typically affect the extremities, face, abdomen, genitals, and larynx. The
Jason Raasch, MD +2 more
doaj +1 more source
Blood-based omic profiling supports female susceptibility to tobacco smoke-induced cardiovascular diseases [PDF]
, 2017 We recently reported that differential gene expression and DNA methylation profiles in blood leukocytes of apparently healthy smokers predicts with remarkable efficiency diseases and conditions known to be causally associated with smoking, suggesting ...
A Cepeda-Benito +59 more
core +3 more sources