Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. [PDF]
PLoS Genetics, 2010 We investigated eight families with a novel subtype of congenital generalized lipodystrophy (CGL4) of whom five members had died from sudden cardiac death during their teenage years. ECG studies revealed features of long-QT syndrome, bradycardia, as well
Anna Rajab +12 more
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JID Innovations, 2023 Hidradenitis suppurativa (HS) is a chronic, inflammatory skin condition. HS disease management has proven difficult owing to an insufficient understanding of the immunological processes that drive its pathogenesis. We have demonstrated that misregulation
Neil Seth +4 more
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Cavin 1 function does not follow caveolar morphology [PDF]
American Journal of Physiology-Cell Physiology, 2015 The function of caveolae, small invaginations of the plasma membrane, remains a matter of debate. We discuss endocytosis and compartmentalization of metabolic and signaling pathways. Caveolin 3 (CAV3) and polymerase I and transcript release factor (PTRF) are important proteins that ensure shaping of caveolae in muscle cells.
Timmel, T. +4 more
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Revealing Cavin-2 Gene Function in Lung Based on Multi-Omics Data Analysis Method
Frontiers in Cell and Developmental Biology, 2022 Research points out that it is particularly important to comprehensively evaluate immune microenvironmental indicators and gene mutation characteristics to select the best treatment plan.
Changsheng Li +5 more
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Phosphocaveolin-1 is a mechanotransducer that induces caveola biogenesis via Egr1 transcriptional regulation [PDF]
, 2012 Caveolin-1 (Cav1) is an essential component of caveolae whose Src kinase-dependent phosphorylation on tyrosine 14 (Y14) is associated with regulation of focal adhesion dynamics.
Bastiani +54 more
core +1 more source
Regulation of cytochrome P450 mRNA expression in primary porcine hepatocytes by selected secondary plant metabolites from chicory (Cichorium intybus L.) [PDF]
, 2013 Chicory (Cichorium intybus) has been shown to induce enzymes of pharmacokinetic relevance (cytochrome P450; CYP). The aim of this study was to investigate the effects of selected secondary plant metabolites with a global extract of chicory root, on the ...
Ekstrand, Bo +2 more
core +1 more source
Muscular dystrophy in PTFR/cavin-1 null mice [PDF]
JCI Insight, 2017 ice and humans lacking the caveolae component polymerase I transcription release factor (PTRF, also known as cavin-1) exhibit lipo- and muscular dystrophy. Here we describe the molecular features underlying the muscle phenotype for PTRF/cavin-1 null mice. These animals had a decreased ability to exercise, and exhibited muscle hypertrophy with increased
Shi-Ying, Ding +2 more
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Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2017 BackgroundPercutaneous coronary intervention has been widely used in the treatment of ischemic heart disease, but vascular restenosis is a main limitation of percutaneous coronary intervention.
Li‐Jun Zhou +7 more
doaj +1 more source
PTRF/Cavin-1 Deficiency Causes Cardiac Dysfunction Accompanied by Cardiomyocyte Hypertrophy and Cardiac Fibrosis. [PDF]
PLoS ONE, 2016 Mutations in the PTRF/Cavin-1 gene cause congenital generalized lipodystrophy type 4 (CGL4) associated with myopathy. Additionally, long-QT syndrome and fatal cardiac arrhythmia are observed in patients with CGL4 who have homozygous PTRF/Cavin-1 ...
Takuya Taniguchi +10 more
doaj +1 more source
Prognostic and Diagnostic Significance of SDPR-Cavin-2 in Hepatocellular Carcinoma
Cellular Physiology and Biochemistry, 2016 Background: Hepatocellular carcinoma (HCC) is a malignant tumor worldwide. Due to the lack of early prediction marker, numerous patients were diagnosed in their late stage.
Wei Jing +5 more
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