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المؤلفAlmughrbi, Aya Hamad
المؤلفCrovella, Sergio
تاريخ الإتاحة2022-09-08T05:58:41Z
تاريخ النشر2022-09-01
اسم المنشورExperimental Dermatology
المعرّفhttp://dx.doi.org/10.1111/exd.14581
الاقتباسAlmughrbi, AH, Crovella, S. Molecular analysis of inflammatory diseases. Exp Dermatol. 2022; 31( Suppl. 1): 9– 16. doi:10.1111/exd.14581
الرقم المعياري الدولي للكتاب0906-6705
معرّف المصادر الموحدhttp://hdl.handle.net/10576/33781
الملخصIf we try to describe the search for molecular actors involved in inflammatory diseases, the picture best representing this task is a mission to unexplored worlds. However, researchers nowadays have powerful tools to support this journey to the complexity of the unknown: Next generation Sequencing technologies have provided a plethora of data describing the different OMICs possibly involved in the different inflammatory diseases. Here, we focused on autoinflammatory skin diseases showing the progress of OMICs-related findings in the understanding of Syndromic HS pathogenesis. We described the studies reporting possible genotype/phenotype correlation in PASH and PAPASH patients (both unrelated or familial cases), highlighting those just genetic variations associated with the diseases have been observed, but the information on common pathways shared by PASH and PAPASH patients were lacking, thus rendering difficult to decipher the common molecular basis of these autoinflammatory conditions. Aimed at filling this gap of knowledge, we proposed an integrated OMICs approach able to identify common pathways shared by subjects suffering from PASH and PAPASH: pathway-based whole sequencing analysis allowed the identification of 4 pathways, keratinization, formation of the cornified envelope steroid metabolism and Vitamin D metabolism, disrupted in PASH and PAPASH patients. Finally, we mentioned the novel bioinformatic platform, named PlatOMICs, capable of integrating OMICs experimental findings also with the ones already reported in public repositories supporting the efforts of the researchers and clinicians to discover molecular pathways shared by individuals suffering of a disease, confronting and integrating the bench findings with the in-silico ones.
راعي المشروعThis work is supported by the EraPerMed 2018-137 project entitled “Biomolecular Analyses for Tailored Medicine in Acne iNversa.” Open Access funding provided by the Qatar National Library.
اللغةen
الناشرWiley
الموضوعOMICs
bioinformatics
data integration
inflammation
skin autoinflammatory diseases
العنوانMolecular analysis of inflammatory diseases.
النوعArticle Review
الصفحات9-16
رقم العدد1
رقم المجلد31
ESSN1600-0625
dc.accessType Open Access


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