Publications by authors named "Carolina Parada"

Article Synopsis
  • Intracranial Epidermoid Cysts (IECs) are rare tumors typically treated with surgery, but their complex adherence makes complete removal challenging and often leads to tumor regrowth.
  • Whole Exome Sequencing (WES) was used to analyze IECs and revealed high mutation rates in genes related to immune responses and key signaling pathways, indicating potential mechanisms for immune evasion.
  • Notably, alterations in genes like NOTCH2 and USP8 were frequently found, suggesting they could be new targets for therapy in IEC treatment while also implicating the PI3K-Akt-mTOR pathway in immune escape.
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Article Synopsis
  • Meningiomas are primarily benign tumors but can recur and turn fatal, indicating the need for improved methods to identify high-risk cases beyond WHO grading.
  • Researchers combined 13 RNA sequencing datasets to analyze 1,298 meningiomas, revealing distinct subtypes and their biological signatures, as well as correlating tumor characteristics with the likelihood of recurrence.
  • An algorithm was developed to predict patient outcomes by mapping new cases onto this reference landscape, and an interactive online tool called Oncoscape allows researchers to explore meningioma characteristics and potential prognoses.
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Knowledge about connectivity between populations is essential for the fisheries management of commercial species. The lobster Jasus frontalis inhabits two oceanic island groups, the Juan Fernández Archipelago and the Desventuradas Islands, separated by 800 km. Since this species is primarily exploited in the Juan Fernández Archipelago, knowledge of the connectivity patterns among islands is foundational for species management.

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YEASTRACT+ (http://yeastract-plus.org/) is a tool for the analysis, prediction and modelling of transcription regulatory data at the gene and genomic levels in yeasts. It incorporates three integrated databases: YEASTRACT (http://yeastract-plus.

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During embryonic development, digits gradually emerge in a periodic pattern. Although genetic evidence indicates that digit formation results from a self-organizing process, the underlying mechanisms are still unclear. Here, we find that convergent-extension tissue flows driven by active stresses underlie digit formation.

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Intracellular peptides (InPeps) generated by proteasomes were previously suggested as putative natural regulators of protein-protein interactions (PPI). Here, the main aim was to investigate the intracellular effects of intracellular peptide VFDVELL (VFD7) and related peptides on PPI. The internalization of the peptides was achieved using a C-terminus covalently bound cell-penetrating peptide (cpp; YGRKKRRQRRR).

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Background Activating variants in platelet-derived growth factor receptor beta (PDGFRB), including a variant we have previously described (p.Tyr562Cys [g.149505130T>C [GRCh37/hg19]; c.

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The current COVID-19 coronavirus pandemic is an emergency on a global scale, with huge swathes of the population required to remain indoors for prolonged periods to tackle the virus. In this new context, individuals' health-promoting routines are under greater strain, contributing to poorer mental and physical health. Additionally, individuals are required to keep up to date with latest health guidelines about the virus, which may be confusing in an age of social-media disinformation and shifting guidelines.

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Most benthic marine invertebrates with sedentary benthic adult phases have planktonic larvae that permit connectivity between geographically isolated populations. Planktonic larval duration and oceanographic processes are vital to connecting populations of species inhabiting remote and distant islands. In the present study, we analyzed the population genetic structure of the sea urchin Centrostephanus sylviae, which inhabits only the Juan Fernández Archipelago and the Desventuradas islands, separated by more than 800 km.

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Intracranial saccular aneurysms (ISA) represent 90%-95% of all intracranial aneurysm cases, characterizing abnormal pockets at arterial branch points. Ruptures lead to subarachnoid hemorrhages (SAH) and poor prognoses. We applied mass spectrometry-based peptidomics to investigate the peptidome of twelve cerebrospinal fluid (CSF) samples collected from eleven patients diagnosed with ISA.

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Purpose: Most World Health Organization (WHO) grade I meningiomas carry a favorable prognosis. Some become clinically aggressive with recurrence, invasion, and resistance to conventional therapies (grade 1.5; recurrent/progressive WHO grade I tumors requiring further treatment within 10 years).

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The role of somatic genetic variants in the pathogenesis of intracranial-aneurysm formation is unknown. We identified a 23-year-old man with progressive, right-sided intracranial aneurysms, ipsilateral to an impressive cutaneous phenotype. The index individual underwent a series of genetic evaluations for known connective-tissue disorders, but the evaluations were unrevealing.

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The Juan Fernández Ridge (JFRE) is a vulnerable marine ecosystem (VME) located off the coast of central Chile formed by the Juan Fernández Archipelago and a group of seamounts. This ecosystem has unique biological and oceanographic features, characterized by: small geographical units, high degree of endemism with a high degree of connectivity within the system. Two fleets have historically operated in this system: a long term coastal artisanal fishery associated with the Islands, focused mainly on lobster, and a mainland based industrial demersal finfish fishery operating on the seamounts which is currently considered overexploited.

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There is a need to better understand meningioma oncogenesis for biomarker discovery and development of targeted therapies. Histological or genetic criteria do not accurately predict aggressiveness. Post-translational studies in meningioma progression are lacking.

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Craniofacial development depends on cell-cell interactions, coordinated cellular movement and differentiation under the control of regulatory gene networks, which include the distal-less (Dlx) gene family. However, the functional significance of in patterning the oropharyngeal region has remained unknown. Here, we show that loss of leads to a shortened soft palate and an absence of the levator veli palatini, palatopharyngeus and palatoglossus muscles that are derived from the 4th pharyngeal arch (PA); however, the tensor veli palatini, derived from the 1st PA, is unaffected.

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 Meningomas represent the most common primary intracranial tumor. The majority are benign World Health Organization (WHO) Grade I lesions, but a subset of these behave in an aggressive manner. Protein biomarkers are needed to distinguish aggressive from benign Grade I lesions.

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Background: Chordomas and chondrosarcomas can occur in the skull base. Currently, 45% of chordomas and 56% of chondrosarcomas recur within 5 years of surgery. The role of adjuvant therapy is highly debated.

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The tooth root is an integral, functionally important part of our dentition. The formation of a functional root depends on epithelial-mesenchymal interactions and integration of the root with the jaw bone, blood supply and nerve innervations. The root development process therefore offers an attractive model for investigating organogenesis.

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Angiomyolipoma (AML) is the most common benign mesenchymal tumour of the kidney. Classically, AML can readily be diagnosed by identifying the negatively attenuating intratumoral macroscopic fat component on non-enhanced CT scans. However, intratumoral macroscopic fat may not be visible on CT scans, mimicking renal cell carcinoma.

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Myocarditis can be idiopathic or arise in response to numerous systemic insults. Myocarditis occurring in the setting of an exacerbation of inflammatory bowel disease is a rare extra-intestinal manifestation of both ulcerative and Crohn's-related colitis. Here, we present a unique case of a 56-year-old female patient presenting with an acute Crohn's colitis flare that was eventually complicated by myocarditis.

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Cleft palate is one of the most common congenital birth defects. Tremendous efforts have been made over the last decades towards understanding hard palate development. However, little is known about soft palate morphogenesis and myogenesis.

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The tongue and mandible have common origins. They arise simultaneously from the mandibular arch and are coordinated in their development and growth, which is evident from several clinical conditions such as Pierre Robin sequence. Here, we review in detail the molecular networks controlling both mandible and tongue development.

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Disrupted ERK1/2 signaling is associated with several developmental syndromes in humans. To understand the function of ERK2 (MAPK1) in the postmigratory neural crest populating the craniofacial region, we studied two mouse models: Wnt1-Cre;Erk2(fl/fl) and Osr2-Cre;Erk2(fl/fl). Wnt1-Cre;Erk2(fl/fl) mice exhibited cleft palate, malformed tongue, micrognathia and mandibular asymmetry.

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