Results 21 to 30 of about 1,281 (134)
Status quo and future developments in the diagnosis and treatment of hereditary angioedema. [PDF]
J Dtsch Dermatol GesSummary Hereditary angioedema (HAE) is a rare hereditary disease characterized by edema, which can be life‐threatening in case of swelling in the larynx. The most common form of HAE is caused by a mutation of the SERPING1 gene and is characterized by a deficiency (type I) or loss of function (type II) of the C1 inhibitor (C1‐INH), leading to excessive ...
Recke A.
europepmc +2 more sources
Differential Myopathic and Transcriptomic Changes in Soleus and Gastrocnemius Muscles in a Novel Chronic Hindlimb Ischemia Rat Model Induced by Endovascular Catheter Occlusion. [PDF]
Acta Physiol (Oxf)ABSTRACT Peripheral artery disease (PAD) is a progressive atherothrombotic disorder affecting more than 230 million people worldwide. Conventional animal models of chronic hindlimb ischemia (HLI) are highly invasive, technically challenging, fail to account for anatomical variation, and may not accurately recapitulate progressive PAD pathophysiology ...
Kitzerow O +4 more
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Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy. [PDF]
ProteomicsABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Dowling P +6 more
europepmc +2 more sources
Scientific Reports, 2021 Muscular dystrophies are disorders characterized by progressive muscle loss and weakness that are both genotypically and phenotypically heterogenous. Progression of muscle disease arises from impaired regeneration, plasma membrane instability, defective ...
David Y. Barefield +5 more
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Frontiers in Cellular and Infection Microbiology, 2021 Clonorchiasis, which is caused by Clonorchis sinensis, is an important foodborne disease worldwide. The excretory-secretory products (ESPs) of C. sinensis play important roles in host-parasite interactions by acting as causative agents.
Xiao-Xiao Ma +11 more
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Myoferlin depletion in breast cancer cells promotes mesenchymal to epithelial shape change and stalls invasion. [PDF]
PLoS ONE, 2012 Myoferlin (MYOF) is a mammalian ferlin protein with homology to ancestral Fer-1, a nematode protein that regulates spermatic membrane fusion, which underlies the amoeboid-like movements of its sperm.
Ruth Li +5 more
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Apatinib Degrades PD-L1 and Reconstitutes Colon Cancer Microenvironment via the Regulation of Myoferlin [PDF]
CancersXiaoting Hong, Li Xiao, Tianhui Hu
exaly +2 more sources
Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b [PDF]
, 2008 Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy. The ferlins are large proteins characterised by multiple C2 domains and a single C-terminal membrane-spanning helix ...
Geddes, Stella M. +8 more
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Biology, 2020 Fer1L5 is a dysferlin and myoferlin related protein, which has been predicted to have a role in vesicle trafficking and muscle membrane fusion events. Mutations in dysferlin and otoferlin genes cause heredity diseases: muscular dystrophy and deafness in ...
R. Usha Kalyani +8 more
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Functions of Vertebrate Ferlins
Cells, 2020 Ferlins are multiple-C2-domain proteins involved in Ca2+-triggered membrane dynamics within the secretory, endocytic and lysosomal pathways. In bony vertebrates there are six ferlin genes encoding, in humans, dysferlin, otoferlin, myoferlin, Fer1L5 and 6
Anna V. Bulankina, Sven Thoms
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