278 research outputs found
E3 Ubiquitin Ligase TRIM Proteins, Cell Cycle and Mitosis
No full textThe cell cycle is a series of events by which cellular components are accurately segregated into daughter cells, principally controlled by the oscillating activities of cyclin-dependent kinases (CDKs) and their co-activators. In eukaryotes, DNA replication is confined to a discrete synthesis phase while chromosome segregation occurs during mitosis. During mitosis, the chromosomes are pulled into each of the two daughter cells by the coordination of spindle microtubules, kinetochores, centromeres, and chromatin. These four functional units tie chromosomes to the microtubules, send signals to the cells when the attachment is completed and the division can proceed, and withstand the force generated by pulling the chromosomes to either daughter cell. Protein ubiquitination is a post-translational modification that plays a central role in cellular homeostasis. E3 ubiquitin ligases mediate the transfer of ubiquitin to substrate proteins determining their fate. One of the largest subfamilies of E3 ubiquitin ligases is the family of the tripartite motif (TRIM) proteins, whose dysregulation is associated with a variety of cellular processes and directly involved in human diseases and cancer. In this review we summarize the current knowledge and emerging concepts about TRIMs and their contribution to the correct regulation of cell cycle, describing how TRIMs control the cell cycle transition phases and their involvement in the different functional units of the mitotic process, along with implications in cancer progression
A wide-band bio-chip for real-time optical detection of bioelectromagnetic interactions with cells
No full textThe analytical and numerical design, implementation, and experimental validation of a new grounded closed coplanar waveguide for wide-band electromagnetic exposures of cells and their optical detection in real-time is reported. The realized device fulfills high-quality requirements for novel bioelectromagnetic experiments, involving elevated temporal and spatial resolutions. Excellent performances in terms of matching bandwidth (less than -10 dB up to at least 3 GHz), emission (below 1 × 10-6 W/m2) and efficiency (around 1) have been obtained as revealed by both numerical simulations and experimental measurements. A low spatial electric field inhomogeneity (coefficient of variation of around 10 %) has been achieved within the cell solutions filling the polydimethylsiloxane reservoir of the conceived device. This original bio-chip based on the grounded closed coplanar waveguide concept opens new possibilities for the development of controlled experiments combining electromagnetic exposures and sophisticated imaging using optical spectroscopic techniques. © 2018 The Author(s)
DNA Methylation in the Fields of Prenatal Diagnosis and Early Detection of Cancers
No full text: The central objective of the metamorphosis of discovery science into biomedical applications is to serve the purpose of patients and curtail the global disease burden. The journey from the discovery of DNA methylation (DNAm) as a biological process to its emergence as a diagnostic tool is one of the finest examples of such metamorphosis and has taken nearly a century. Particularly in the last decade, the application of DNA methylation studies in the clinic has been standardized more than ever before, with great potential to diagnose a multitude of diseases that are associated with a burgeoning number of genes with this epigenetic alteration. Fetal DNAm detection is becoming useful for noninvasive prenatal testing, whereas, in very preterm infants, DNAm is also shown to be a potential biological indicator of prenatal risk factors. In the context of cancer, liquid biopsy-based DNA-methylation profiling is offering valuable epigenetic biomarkers for noninvasive early-stage diagnosis. In this review, we focus on the applications of DNA methylation in prenatal diagnosis for delivering timely therapy before or after birth and in detecting early-stage cancers for better clinical outcomes. Furthermore, we also provide an up-to-date commercial landscape of DNAm biomarkers for cancer detection and screening of cancers of unknown origin
Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation
No full textKabuki syndrome (also known as Niikawa-Kuroki syndrome)
is a rare autosomal disorder, characterized by an unusual
face, short stature, skeletal, visceral and dermatoglyphic abnormalities,
cardiac anomalies, mental retardation, and immunological
defects. Point mutations and large intragenic
deletions and duplications of the mixed lineage leukemia
2 (MLL2) and exons deletions of lysine demethylase 6A
( KDM6A) genes have been identified as its underlying causes.
We report on the first description of a Moroccan Kabuki syndrome
patient with typical facial features, developmental
delay, finger pads, and other anomalies carrying a novel
splice site mutation in the MLL2 gene that produces a truncated
and likely pathogenetic form of MLL2 protein
Exposure Assessment of Stray Electromagnetic generated by a Wireless Power Transfer System
No full textA New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome
No full textMlx, a new Max-Like bHLHZip family member: the center stage of a novel transcription factors regulatory pathway?
No full textThe Myc proto-oncogene family members have been identified as the cellular homologs of the transforming oncogene of avian retroviruses. They encode central regulators of mammalian cell proliferation and apoptosis, and they associate with the bHLHZip protein Max to bind specific DNA sequences and regulate the expression of genes important for cell cycle progression. The other family members, Mad1, Mxi1, Mad3, Mad4 and Rox (Mnt) antagonize their activities. The Mads and Rox compete with Myc in heterodimerizing with Max and in binding to the same specific target sequences. These Mads:Max and Rox:Max dimers repress transcription through binding to the mSIN3 corepressor protein and by tethering histone deacetylase-containing complexes to the DNA. In a screen for Rox interactors we isolated Mlx, a bHLHZip protein previously identified in a screen for Mad1 interactors. In the present work we extend the known dimerization partners of Mlx by demonstrating its ability to interact with Rox. Moreover, we show that contrary to previous reports Mlx is able to homodimerize and to bind E-box sequences at low concentration levels. The possible role of Mlx in an emerging regulatory pathway and acting parallel to the Max driven network is discussed
Laser-tissue photothermal interaction: a thermal infrared imaging study
No full textA 2-D approach, based on Infrared (IR) imaging for monitoring and optimizing the photo-therapy in dermatology, is proposed. We studied the possibility to employ IR imaging in order to select the laser treatment parameters for each patient. A Pulsed Thermography (PT) model allowed to evaluate morphological information on the specific area to treat after a single laser pulse test. The data were elaborated through a 2-D numerical simulation, which described the tissue temperature profiles for different sets of laser parameters. Based on this approach, it was possible to select the laser parameters according to specific pathology, morphology and phototype in order to achieve the best performances in the phototherapy practice
The Role of Left Superior Parietal Lobe in Male Sexual Behavior: Dynamics of Distinct Components Revealed by fMRI
No full text"Introduction. Despite the interest for the brain correlates of male sexual arousal, few studies investigated neural mechanisms underlying psychogenic erectile dysfunction (ED). Although these studies showed several brain regions active in ED patients during visual erotic stimulation, the dynamics of inhibition of sexual response is still unclear. Aim. This study investigated the dynamics of brain regions involved in the psychogenic ED. Methods. Functional magnetic resonance imaging (fMRI) and simultaneous penile tumescence (PT) were used to study brain activity evoked in 17 outpatients with psychogenic ED and 19 healthy controls during visual erotic stimulation. Patterns of brain activation related to different phases of sexual response in the two groups were compared. Main Outcome Measures. Simultaneous recording of blood oxygen level-dependent fMRI responses and PT during visual erotic stimulation. Results. During visual erotic stimuli, a larger activation was observed for the patient group in the left superior parietal lobe, ventromedial prefrontal cortex, and posterior cingulate cortex, whereas the control group showed larger activation in the right middle insula and dorsal anterior cingulate cortex and hippocampus. Moreover, the left superior parietal lobe showed a larger activation in patients than controls especially during the later stage of sexual response. Conclusion. Our results suggest that, among regions more active in patient group, the left superior parietal lobe plays a crucial role in inhibition of sexual response. Previous studies showed that left superior parietal lobe is involved in monitoring of internal body representation. The larger activation of this region in patients during later stages of sexual response suggests a high monitoring of the internal body representation, possibly affecting the behavioral response. These findings provide insight on brain mechanisms involved in psychogenic ED. Cera N, Di Pierro ED, Sepede G, Gambi F, Perrucci MG, Merla A, Tartaro A, Del Gratta C, Galatioto Paradiso G, Vicentini C, Romani GL, and Ferretti A. The role of left superior parietal lobe in male sexual behavior: Dynamics of distinct components revealed by fMRI. J Sex Med 2012;9:16021612.
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