{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T20:33:21Z","timestamp":1787776401856,"version":"build-2784847793"},"reference-count":35,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","license":[{"start":{"date-parts":[[2025,5,1]],"date-time":"2025-05-01T00:00:00Z","timestamp":1746057600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Lipoid congenital adrenal hyperplasia (LCAH) is the lethal form of steroid biosynthesis defects because of mutations in the steroidogenic acute regulatory (\n                      <jats:italic toggle=\"yes\">STAR<\/jats:italic>\n                      ) gene. There are two distinct clinical forms including classical and nonclassical without any reliable genotype\u2013phenotype correlation, and investigation of more cases may provide valuable insights.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods:<\/jats:title>\n                    <jats:p>\n                      Ten Iranian families affected by LCAH were selected for genetic linkage analysis. The\n                      <jats:italic toggle=\"yes\">STAR<\/jats:italic>\n                      gene was sequenced in the linked families, and using multiple\n                      <jats:italic toggle=\"yes\">in silico<\/jats:italic>\n                      tools and ACMG guidelines, the pathogenicity of candidate variants was assessed. Also, the structural effects of the identified variant on the STAR behavior were evaluated using molecular docking and molecular dynamics (MD) simulation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Data analysis revealed a pathogenic variant, c.824T&gt;C, (p.L275P), in the\n                      <jats:italic toggle=\"yes\">STAR<\/jats:italic>\n                      gene in the Iranian population for the first time. Furthermore, molecular docking and MD simulation revealed that the c.824T&gt;C variant results in a decrease in total flexibility and secondary structure, an increase in H-bonds and changed fluctuations in some residues.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>MD simulation provides the key structural and structural insights of the p.L275P -mediated conformational changes in STAR.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/abr.abr_439_23","type":"journal-article","created":{"date-parts":[[2025,5,31]],"date-time":"2025-05-31T02:00:10Z","timestamp":1748656810000},"update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["New Insight into Pathogenic Variant p.L275P on the Structure and Function of Steroidogenic Acute Regulatory Protein (STAR) Through Molecular Dynamics Simulation"],"prefix":"10.4103","volume":"14","author":[{"given":"Shahrzad","family":"Aghaei","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine, School of Advanced Technologies, Shahrekord University of Medical Sciences, Shahrekord, Iran"},{"name":"Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran"},{"name":"Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Amin","family":"Tabatabaiefar","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran"},{"name":"Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javad","family":"Saffari-Chaleshtori","sequence":"additional","affiliation":[{"name":"Clinical Biochemistry Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erfan","family":"Korram","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran"},{"name":"Cancer Prevention Research Center, Seyyed Al-Shohada Hospital, Isfahan University of Medical Sciences, Isfahan, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara Sadeghi","family":"Amini","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran"},{"name":"Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam","family":"Aghaei","sequence":"additional","affiliation":[{"name":"Skin Diseases and Leishmaniasis Research Center, Isfahan University of Medical Sciences, Isfahan, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahbobeh","family":"Koohiyan","sequence":"additional","affiliation":[{"name":"Cancer Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zahra","family":"Ataie","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran"},{"name":"Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Payam","family":"Samei","sequence":"additional","affiliation":[{"name":"Clinical Research Development Unit, Hajar Hospital, Shahrekord University of Medical Sciences, Shahrekord, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Effat","family":"Farrokhi","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, School of Advanced Technologies, Shahrekord University of Medical Sciences, Shahrekord, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2025,5]]},"reference":[{"key":"R1-20250531","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.jsbmb.2016.03.009","article-title":"Disorders in the initial steps of steroid hormone synthesis","volume":"165","author":"Miller","year":"2017","journal-title":"J Steroid Biochem Mol 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