{"id":"https://openalex.org/W4407776129","doi":"https://doi.org/10.1007/s10048-025-00812-z","title":"Predicting high-risk clinical missense variants of SMARCB1 in rare neurogenetic disorder schwannomatosis (nerve tumor) through sequence, structure, and molecular dynamics analyses","display_name":"Predicting high-risk clinical missense variants of SMARCB1 in rare neurogenetic disorder schwannomatosis (nerve tumor) through sequence, structure, and molecular dynamics analyses","publication_year":2025,"publication_date":"2025-02-20","ids":{"openalex":"https://openalex.org/W4407776129","doi":"https://doi.org/10.1007/s10048-025-00812-z","pmid":"https://pubmed.ncbi.nlm.nih.gov/39976804"},"language":"en","primary_location":{"id":"doi:10.1007/s10048-025-00812-z","doi":"https://doi.org/10.1007/s10048-025-00812-z","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s10048-025-00812-z","pdf_url":null,"source":{"id":"https://openalex.org/S185726200","display_name":"Neurogenetics","issn_l":"1364-6745","issn":["1364-6745","1364-6753"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurogenetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5072038040","display_name":"Mitesh B. Patel","orcid":"https://orcid.org/0000-0002-9283-2124","observed_orcids":["https://orcid.org/0000-0002-9283-2124"]},"institutions":[{"id":"https://openalex.org/I9694494","display_name":"Parul University","ror":"https://ror.org/024v3fg07","country_code":"IN","type":"education","lineage":["https://openalex.org/I9694494"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Mitesh Patel","raw_affiliation_strings":["Department of Biotechnology, Parul Institute of Applied Sciences, Parul University, Waghodia, Vadodara, Gujarat, 391760, India","Research and Development Cell (RDC), Parul University, Waghodia, Vadodara, Gujarat, 391760, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biotechnology, Parul Institute of Applied Sciences, Parul University, Waghodia, Vadodara, Gujarat, 391760, India","institution_ids":["https://openalex.org/I9694494"]},{"raw_affiliation_string":"Research and Development Cell (RDC), Parul University, Waghodia, Vadodara, Gujarat, 391760, India","institution_ids":["https://openalex.org/I9694494"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051893494","display_name":"Reem Binsuwaidan","orcid":"https://orcid.org/0000-0003-1406-282X","observed_orcids":["https://orcid.org/0000-0003-1406-282X"]},"institutions":[{"id":"https://openalex.org/I106778892","display_name":"Princess Nourah bint Abdulrahman University","ror":"https://ror.org/05b0cyh02","country_code":"SA","type":"education","lineage":["https://openalex.org/I106778892"]}],"countries":["SA"],"is_corresponding":false,"raw_author_name":"Reem Binsuwaidan","raw_affiliation_strings":["Department of Pharmaceutical Sciences, College of Pharmacy, Princess Nourah bint Abdulrahman University, P.O. Box 84428, 11671, Riyadh, Saudi Arabia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pharmaceutical Sciences, College of Pharmacy, Princess Nourah bint Abdulrahman University, P.O. Box 84428, 11671, Riyadh, Saudi Arabia","institution_ids":["https://openalex.org/I106778892"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067549921","display_name":"Malvi Surti","orcid":"https://orcid.org/0000-0002-7609-3026","observed_orcids":["https://orcid.org/0000-0002-7609-3026"]},"institutions":[{"id":"https://openalex.org/I9694494","display_name":"Parul University","ror":"https://ror.org/024v3fg07","country_code":"IN","type":"education","lineage":["https://openalex.org/I9694494"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Malvi Surti","raw_affiliation_strings":["Department of Biotechnology, Parul Institute of Applied Sciences, Parul University, Waghodia, Vadodara, Gujarat, 391760, India","Research and Development Cell (RDC), Parul University, Waghodia, Vadodara, Gujarat, 391760, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biotechnology, Parul Institute of Applied Sciences, Parul University, Waghodia, Vadodara, Gujarat, 391760, India","institution_ids":["https://openalex.org/I9694494"]},{"raw_affiliation_string":"Research and Development Cell (RDC), Parul University, Waghodia, Vadodara, Gujarat, 391760, India","institution_ids":["https://openalex.org/I9694494"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111299113","display_name":"Nawaf Alshammari","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210088963","display_name":"University of Ha'il","ror":"https://ror.org/013w98a82","country_code":"SA","type":"education","lineage":["https://openalex.org/I4210088963"]}],"countries":["SA"],"is_corresponding":false,"raw_author_name":"Nawaf Alshammari","raw_affiliation_strings":["Department of Biology, College of Science, University of Ha'il, P.O. Box 2440, Ha'il, Saudi Arabia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biology, College of Science, University of Ha'il, P.O. Box 2440, Ha'il, Saudi Arabia","institution_ids":["https://openalex.org/I4210088963"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052222148","display_name":"Angum M. M. Ibrahim","orcid":"https://orcid.org/0000-0003-2210-0769","observed_orcids":["https://orcid.org/0000-0003-2210-0769"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Angum M. M. Ibrahim","raw_affiliation_strings":["Al-Rayan College for Health Sciences and Nursing, P.O. Box 167, 41411, Madinah, Saudi Arabia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Al-Rayan College for Health Sciences and Nursing, P.O. Box 167, 41411, Madinah, Saudi Arabia","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5070678346","display_name":"Mohd Adnan","orcid":"https://orcid.org/0000-0002-7080-6822","observed_orcids":["https://orcid.org/0000-0002-7080-6822","https://orcid.org/0009-0008-1189-8422","https://orcid.org/0009-0006-3007-2680"]},"institutions":[{"id":"https://openalex.org/I4210088963","display_name":"University of Ha'il","ror":"https://ror.org/013w98a82","country_code":"SA","type":"education","lineage":["https://openalex.org/I4210088963"]}],"countries":["SA"],"is_corresponding":true,"raw_author_name":"Mohd Adnan","raw_affiliation_strings":["Department of Biology, College of Science, University of Ha'il, P.O. Box 2440, Ha'il, Saudi Arabia. drmohdadnan@gmail.com"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biology, College of Science, University of Ha'il, P.O. Box 2440, Ha'il, Saudi Arabia. drmohdadnan@gmail.com","institution_ids":["https://openalex.org/I4210088963"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5070678346"],"corresponding_institution_ids":["https://openalex.org/I4210088963"],"apc_list":{"value":4590,"currency":"USD","value_usd":4590},"apc_paid":null,"fwci":0.9953,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":{"value":0.69892929,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":95},"biblio":{"volume":"26","issue":"1","first_page":"31","last_page":"31"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11173","display_name":"Neurofibromatosis and Schwannoma Cases","score":0.5586000084877014,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11173","display_name":"Neurofibromatosis and Schwannoma Cases","score":0.5586000084877014,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.266400009393692,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10044","display_name":"Protein Structure and Dynamics","score":0.14100000262260437,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/smarcb1","display_name":"SMARCB1","score":1.0},{"id":"https://openalex.org/keywords/schwannomatosis","display_name":"schwannomatosis","score":0.996999979019165},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.9070000052452087},{"id":"https://openalex.org/keywords/non-synonymous-single-nucleotide-polymorphisms","display_name":"non-synonymous single nucleotide polymorphisms","score":0.9710000157356262},{"id":"https://openalex.org/keywords/protein-stability","display_name":"protein stability","score":0.8519999980926514},{"id":"https://openalex.org/keywords/protein-flexibility","display_name":"protein flexibility","score":0.7269999980926514},{"id":"https://openalex.org/keywords/hydrophobic-interactions","display_name":"hydrophobic interactions","score":0.6769999861717224},{"id":"https://openalex.org/keywords/solvent-exposure","display_name":"solvent exposure","score":0.5709999799728394},{"id":"https://openalex.org/keywords/hydrogen-bond-stability","display_name":"hydrogen bond stability","score":0.5889999866485596}],"concepts":[{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.7654682397842407},{"id":"https://openalex.org/C177450382","wikidata":"https://www.wikidata.org/wiki/Q18031596","display_name":"SMARCB1","level":5,"score":0.7579338550567627},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.6549235582351685},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5413124561309814},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5280236601829529},{"id":"https://openalex.org/C2778112365","wikidata":"https://www.wikidata.org/wiki/Q3511065","display_name":"Sequence (biology)","level":2,"score":0.4863784611225128},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3496600389480591},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.18505901098251343},{"id":"https://openalex.org/C86339819","wikidata":"https://www.wikidata.org/wiki/Q407384","display_name":"Transcription factor","level":3,"score":0.12233752012252808},{"id":"https://openalex.org/C167227067","wikidata":"https://www.wikidata.org/wiki/Q5113739","display_name":"Chromatin remodeling","level":4,"score":0.0}],"mesh":[{"descriptor_ui":"D000071796","descriptor_name":"SMARCB1 Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000071796","descriptor_name":"SMARCB1 Protein","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009442","descriptor_name":"Neurilemmoma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012878","descriptor_name":"Skin Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017253","descriptor_name":"Neurofibromatoses","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056004","descriptor_name":"Molecular Dynamics Simulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1007/s10048-025-00812-z","doi":"https://doi.org/10.1007/s10048-025-00812-z","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s10048-025-00812-z","pdf_url":null,"source":{"id":"https://openalex.org/S185726200","display_name":"Neurogenetics","issn_l":"1364-6745","issn":["1364-6745","1364-6753"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurogenetics","raw_type":"journal-article"},{"id":"pmid:39976804","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/39976804","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurogenetics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.8371999859809875,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G7015894771","display_name":null,"funder_award_id":"PNURSP2025R304","funder_id":"https://openalex.org/F4320337220","funder_display_name":"Deanship of Scientific Research, Princess Nourah Bint Abdulrahman University"}],"funders":[{"id":"https://openalex.org/F4320337220","display_name":"Deanship of Scientific Research, Princess Nourah Bint Abdulrahman University","ror":null}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":49,"referenced_works":["https://openalex.org/W194757411","https://openalex.org/W1563940013","https://openalex.org/W1974116969","https://openalex.org/W2012404242","https://openalex.org/W2018709510","https://openalex.org/W2099589970","https://openalex.org/W2120819598","https://openalex.org/W2122732537","https://openalex.org/W2130143428","https://openalex.org/W2137886330","https://openalex.org/W2401241322","https://openalex.org/W2559893189","https://openalex.org/W2563878885","https://openalex.org/W2578843483","https://openalex.org/W2751686252","https://openalex.org/W2777706330","https://openalex.org/W2890841681","https://openalex.org/W2915105770","https://openalex.org/W2948505931","https://openalex.org/W2969774903","https://openalex.org/W2972794119","https://openalex.org/W2976770707","https://openalex.org/W3033232203","https://openalex.org/W3036865214","https://openalex.org/W3083008290","https://openalex.org/W3132134954","https://openalex.org/W3165216240","https://openalex.org/W3165802010","https://openalex.org/W3189170509","https://openalex.org/W3215092057","https://openalex.org/W4210835757","https://openalex.org/W4220835000","https://openalex.org/W4223451706","https://openalex.org/W4224247225","https://openalex.org/W4283206029","https://openalex.org/W4288060326","https://openalex.org/W4293008879","https://openalex.org/W4306888844","https://openalex.org/W4308325242","https://openalex.org/W4308842336","https://openalex.org/W4309506674","https://openalex.org/W4310215464","https://openalex.org/W4313477094","https://openalex.org/W4353016399","https://openalex.org/W4388221399","https://openalex.org/W4388293263","https://openalex.org/W4393234109","https://openalex.org/W4394892330","https://openalex.org/W4401212756"],"related_works":["https://openalex.org/W1978398137","https://openalex.org/W4404236637","https://openalex.org/W2045744952","https://openalex.org/W2166800162","https://openalex.org/W4409690066","https://openalex.org/W2903898192","https://openalex.org/W2094218875","https://openalex.org/W4402267879","https://openalex.org/W4200295788","https://openalex.org/W1999256488"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2025-02-21T00:00:00"}