Results 31 to 40 of about 1,792 (176)
HSAN-VI: A spectrum disorder based on dystonin isoform expression. [PDF]
Neurol Genet, 2020 Hereditary sensory and autonomic neuropathy (HSAN-VI) is a recessive genetic disorder that arises because of mutations in the human dystonin gene (DST, previously known as bullous pemphigoid antigen 1). Although initial characterization of HSAN-VI reported it as a sensory neuropathy that was lethal in infancy, we now know of a number of heterozygous ...
Lynch-Godrei A, Kothary R.
europepmc +4 more sources
Research in practice: Immune checkpoint inhibitor related autoimmune bullous dermatosis. [PDF]
J Dtsch Dermatol GesSummary Immune checkpoint receptors and ligands such as cytotoxic T lymphocyte antigen‐4 (CTLA‐4), programmed death‐1 (PD‐1) and ligand‐1 (PD‐L1) are widely expressed on immune and non‐immune cells and fine tune the activation level of immune cells, thus, enabling, preventing, or terminating immune responses.
Pruessmann JN, Pruessmann W, Sadik CD.
europepmc +2 more sources
Hearts of dystonia musculorum mice display normal morphological and histological features but show signs of cardiac stress. [PDF]
PLoS ONE, 2010 Dystonin is a giant cytoskeletal protein belonging to the plakin protein family and is believed to crosslink the major filament systems in contractile cells. Previous work has demonstrated skeletal muscle defects in dystonin-deficient dystonia musculorum
Justin G Boyer +3 more
doaj +1 more source
Deciphering the Contribution of BP230 Autoantibodies in Bullous Pemphigoid
Antibodies, 2022 Bullous pemphigoid (BP) is a subepidermal autoimmune blistering disease predominantly affecting elderly patients and carries significant morbidity and mortality.
Connor Cole +2 more
doaj +1 more source
Motor unit abnormalities in Dystonia musculorum mice. [PDF]
PLoS ONE, 2011 Dystonia musculorum (dt) is a mouse inherited sensory neuropathy caused by mutations in the dystonin gene. While the primary pathology lies in the sensory neurons of dt mice, the overt movement disorder suggests motor neurons may also be affected.
Yves De Repentigny +4 more
doaj +1 more source
Comparative genomics reveals evolutionary loss of epiplakin in cetaceans
Scientific Reports, 2022 The adaptation of vertebrates to different environments was associated with changes in the molecular composition and regulation of epithelia. Whales and dolphins, together forming the clade cetaceans, have lost multiple epithelial keratins during or ...
Peter Fuchs +3 more
doaj +1 more source
Drosophila Short stop as a paradigm for the role and regulation of spectraplakins [PDF]
, 2017 Spectraplakins are evolutionarily well conserved cytoskeletal linker molecules that are true members of three protein families: plakins, spectrins and Gas2-like proteins.
Hahn, Ines +6 more
core +2 more sources
The tapeworm interactome: inferring confidence scored protein-protein interactions from the proteome of Hymenolepis microstoma [PDF]
, 2020 BACKGROUND: Reference genome and transcriptome assemblies of helminths have reached a level of completion whereby secondary analyses that rely on accurate gene estimation or syntenic relationships can be now conducted with a high level of confidence ...
James, Katherine, Olson, Peter D.
core +2 more sources