Molecular analysis of inflammatory diseases
<p dir="ltr">If 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:...
محفوظ في:
| المؤلف الرئيسي: | |
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| مؤلفون آخرون: | |
| منشور في: |
2022
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| الموضوعات: | |
| الوسوم: |
إضافة وسم
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| _version_ | 1864513548326010880 |
|---|---|
| author | Aya Hamad Almughrbi (21348293) |
| author2 | Sergio Crovella (290351) |
| author2_role | author |
| author_facet | Aya Hamad Almughrbi (21348293) Sergio Crovella (290351) |
| author_role | author |
| dc.creator.none.fl_str_mv | Aya Hamad Almughrbi (21348293) Sergio Crovella (290351) |
| dc.date.none.fl_str_mv | 2022-04-22T12:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1111/exd.14581 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Molecular_analysis_of_inflammatory_diseases/29046071 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Immunology bioinformatics data integration inflammation OMICs skin autoinflammatory diseases |
| dc.title.none.fl_str_mv | Molecular analysis of inflammatory diseases |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <p dir="ltr">If 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.</p><h2>Other Information</h2><p dir="ltr">Published in: Experimental Dermatology<br>License: <a href="https://creativecommons.org/licenses/by/4.0/deed.en" target="_blank">https://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1111/exd.14581" target="_blank">https://dx.doi.org/10.1111/exd.14581</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_aa3e69b23c3bb15068b39cb3076bb15d |
| identifier_str_mv | 10.1111/exd.14581 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/29046071 |
| publishDate | 2022 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Molecular analysis of inflammatory diseasesAya Hamad Almughrbi (21348293)Sergio Crovella (290351)Biological sciencesGeneticsBiomedical and clinical sciencesClinical sciencesImmunologybioinformaticsdata integrationinflammationOMICsskin autoinflammatory diseases<p dir="ltr">If 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.</p><h2>Other Information</h2><p dir="ltr">Published in: Experimental Dermatology<br>License: <a href="https://creativecommons.org/licenses/by/4.0/deed.en" target="_blank">https://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1111/exd.14581" target="_blank">https://dx.doi.org/10.1111/exd.14581</a></p>2022-04-22T12:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1111/exd.14581https://figshare.com/articles/journal_contribution/Molecular_analysis_of_inflammatory_diseases/29046071CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/290460712022-04-22T12:00:00Z |
| spellingShingle | Molecular analysis of inflammatory diseases Aya Hamad Almughrbi (21348293) Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Immunology bioinformatics data integration inflammation OMICs skin autoinflammatory diseases |
| status_str | publishedVersion |
| title | Molecular analysis of inflammatory diseases |
| title_full | Molecular analysis of inflammatory diseases |
| title_fullStr | Molecular analysis of inflammatory diseases |
| title_full_unstemmed | Molecular analysis of inflammatory diseases |
| title_short | Molecular analysis of inflammatory diseases |
| title_sort | Molecular analysis of inflammatory diseases |
| topic | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Immunology bioinformatics data integration inflammation OMICs skin autoinflammatory diseases |