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Variant Enrichment Analysis to Explore Pathways Disruption in a Necropsy Series of Asbestos-Exposed Shipyard Workers
(
MDPI
, 2022 , Article)
The variant enrichment analysis (VEA), a recently developed bioinformatic workflow, has been shown to be a valuable tool for whole-exome sequencing data analysis, allowing finding differences between the number of genetic ...
Host Response of Syrian Hamster to SARS-CoV-2 Infection including Differences with Humans and between Sexes
(
MDPI
, 2023 , Article)
The emergence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has highlighted the importance of having proper tools and models to study the pathophysiology of emerging infectious diseases to test therapeutic ...
Nanomedicine as a Potential Tool against Monkeypox.
(
MDPI
, 2023 , Article Review)
Human monkeypox is a rare viral zoonosis that was first identified in 1970; since then, this infectious disease has been marked as endemic in central and western Africa. The disease has always been considered rare and ...
Variant Enrichment Analysis to Explore Pathways Functionality in Complex Autoinflammatory Skin Disorders through Whole Exome Sequencing Analysis.
(
MDPI
, 2022 , Article)
The challenge of unravelling the molecular basis of multifactorial disorders nowadays cannot rely just on association studies searching for potential causative variants shared by groups of patients and not present in healthy ...
Expression of the miR-9-5p, miR-125b-5p and its target gene NFKB1 and TRAF6 in childhood-onset systemic lupus erythematosus (cSLE)
(
Taylor and Francis
, 2022 , Article)
Childhood- onset systemic lupus erythematosus (cSLE) is a multisystem inflammatory disease that can lead to severe clinical conditions resulting in early comorbidities. Several genetic, environmental, and immunological ...
Paraviral cutaneous manifestations associated to SARS-CoV-2 Omicron variant
(
Taylor and Francis Group
, 2022 , Article)
Background: The spreading of the SARS-CoV-2 Omicron variant is probably due to its increased transmissibility and ability to escape from neutralising antibodies. Cutaneous manifestations have been reported after infection ...
Microalgae potential to protect from heavy metals-induced carcinogenicity
(
Elsevier
, 2024 , Article)
Toxic elements are present naturally in the environment; however, during the last century, their level has been continuously rising in the air, water, and soil due to anthropogenic activities, including urban runoff, ...
Different molecular pathways are disrupted in Pyoderma gangrenosum patients and are associated with the severity of the disease.
(
Nature Research
, 2023 , Article)
Pyoderma gangrenosum (PG) is a rare inflammatory skin disease classified within the spectrum of neutrophilic dermatoses. The pathophysiology of PG is yet incompletely understood but a prominent role of genetics facilitating ...
Transient Receptor Potential Ankyrin 1 (TRPA1) Methylation and Chronic Pain: A Systematic Review
(
MDPI
, 2023 , Other)
Background and Objective: Chronic pain represents a major global health issue in terms of psycho-physiological, therapeutic, and economic burden, not limited to adults but also to the pediatric age. Despite its great impact, ...
A rare loss-of-function genetic mutation suggest a role of dermcidin deficiency in hidradenitis suppurativa pathogenesis
(
Frontiers Media
, 2022 , Article)
Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease with a multifactorial aetiology that involves a strict interplay between genetic factors, immune dysregulation and lifestyle. Familial forms represent ...