{"id":"https://openalex.org/W2596801784","doi":"https://doi.org/10.1093/hmg/ddx037","title":"Cowden syndrome-associated germline succinate dehydrogenase complex subunit D (SDHD) variants cause PTEN-mediated down-regulation of autophagy in thyroid cancer cells","display_name":"Cowden syndrome-associated germline succinate dehydrogenase complex subunit D (SDHD) variants cause PTEN-mediated down-regulation of autophagy in thyroid cancer cells","publication_year":2017,"publication_date":"2017-01-30","ids":{"openalex":"https://openalex.org/W2596801784","doi":"https://doi.org/10.1093/hmg/ddx037","mag":"2596801784","pmid":"https://pubmed.ncbi.nlm.nih.gov/28164237","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/5390680"},"language":"en","primary_location":{"id":"doi:10.1093/hmg/ddx037","doi":"https://doi.org/10.1093/hmg/ddx037","is_oa":true,"landing_page_url":"https://doi.org/10.1093/hmg/ddx037","pdf_url":"https://academic.oup.com/hmg/article-pdf/26/7/1365/13178183/ddx037.pdf","source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://academic.oup.com/hmg/article-pdf/26/7/1365/13178183/ddx037.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5022089430","display_name":"Wanfeng Yu","orcid":"https://orcid.org/0000-0003-3401-0023","observed_orcids":["https://orcid.org/0000-0003-3401-0023"]},"institutions":[{"id":"https://openalex.org/I1316902750","display_name":"Cleveland Clinic","ror":"https://ror.org/03xjacd83","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750"]},{"id":"https://openalex.org/I4405287411","display_name":"Cleveland Clinic Research","ror":"https://ror.org/053229s83","country_code":"US","type":"facility","lineage":["https://openalex.org/I1316902750","https://openalex.org/I4405287411"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Wanfeng Yu","raw_affiliation_strings":["Genomic Medicine Institute","Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genomic Medicine Institute","institution_ids":[]},{"raw_affiliation_string":"Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA","institution_ids":["https://openalex.org/I1316902750","https://openalex.org/I4405287411"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088453711","display_name":"Ying Ni","orcid":"https://orcid.org/0000-0002-0338-5239","observed_orcids":["https://orcid.org/0000-0002-0338-5239"]},"institutions":[{"id":"https://openalex.org/I1316902750","display_name":"Cleveland Clinic","ror":"https://ror.org/03xjacd83","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750"]},{"id":"https://openalex.org/I4405287411","display_name":"Cleveland Clinic Research","ror":"https://ror.org/053229s83","country_code":"US","type":"facility","lineage":["https://openalex.org/I1316902750","https://openalex.org/I4405287411"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ying Ni","raw_affiliation_strings":["Genomic Medicine Institute","Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genomic Medicine Institute","institution_ids":[]},{"raw_affiliation_string":"Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA","institution_ids":["https://openalex.org/I1316902750","https://openalex.org/I4405287411"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074454934","display_name":"Motoyasu Saji","orcid":"https://orcid.org/0000-0002-2987-4161","observed_orcids":["https://orcid.org/0000-0002-2987-4161"]},"institutions":[{"id":"https://openalex.org/I52357470","display_name":"The Ohio State University","ror":"https://ror.org/00rs6vg23","country_code":"US","type":"education","lineage":["https://openalex.org/I52357470"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Motoyasu Saji","raw_affiliation_strings":["Division of Endocrinology and Metabolism, Department of Internal Medicine","Molecular Biology and Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Endocrinology and Metabolism, Department of Internal Medicine","institution_ids":[]},{"raw_affiliation_string":"Molecular Biology and Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA","institution_ids":["https://openalex.org/I52357470"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070614030","display_name":"Matthew David Ringel","orcid":"https://orcid.org/0000-0001-8672-3266","observed_orcids":["https://orcid.org/0000-0001-8672-3266"]},"institutions":[{"id":"https://openalex.org/I52357470","display_name":"The Ohio State University","ror":"https://ror.org/00rs6vg23","country_code":"US","type":"education","lineage":["https://openalex.org/I52357470"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Matthew D. Ringel","raw_affiliation_strings":["Division of Endocrinology and Metabolism, Department of Internal Medicine","Molecular Biology and Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Endocrinology and Metabolism, Department of Internal Medicine","institution_ids":[]},{"raw_affiliation_string":"Molecular Biology and Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA","institution_ids":["https://openalex.org/I52357470"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031174923","display_name":"Ritika Jaini","orcid":"https://orcid.org/0000-0002-4580-8789","observed_orcids":["https://orcid.org/0000-0002-4580-8789"]},"institutions":[{"id":"https://openalex.org/I1316902750","display_name":"Cleveland Clinic","ror":"https://ror.org/03xjacd83","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750"]},{"id":"https://openalex.org/I4390039247","display_name":"Case Comprehensive Cancer Center","ror":"https://ror.org/00fpjq451","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4390039247","https://openalex.org/I58956616"]},{"id":"https://openalex.org/I4405287411","display_name":"Cleveland Clinic Research","ror":"https://ror.org/053229s83","country_code":"US","type":"facility","lineage":["https://openalex.org/I1316902750","https://openalex.org/I4405287411"]},{"id":"https://openalex.org/I58956616","display_name":"Case Western Reserve University","ror":"https://ror.org/051fd9666","country_code":"US","type":"education","lineage":["https://openalex.org/I58956616"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ritika Jaini","raw_affiliation_strings":["Genomic Medicine Institute","Germline High Risk Focus Group, CASE Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA","Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genomic Medicine Institute","institution_ids":[]},{"raw_affiliation_string":"Germline High Risk Focus Group, CASE Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA","institution_ids":["https://openalex.org/I4390039247","https://openalex.org/I58956616"]},{"raw_affiliation_string":"Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA","institution_ids":["https://openalex.org/I1316902750","https://openalex.org/I4405287411"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5038322204","display_name":"Charis Eng","orcid":"https://orcid.org/0000-0002-3693-5145","observed_orcids":["https://orcid.org/0000-0002-3693-5145"]},"institutions":[{"id":"https://openalex.org/I1316902750","display_name":"Cleveland Clinic","ror":"https://ror.org/03xjacd83","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750"]},{"id":"https://openalex.org/I4390039247","display_name":"Case Comprehensive Cancer Center","ror":"https://ror.org/00fpjq451","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4390039247","https://openalex.org/I58956616"]},{"id":"https://openalex.org/I4405287411","display_name":"Cleveland Clinic Research","ror":"https://ror.org/053229s83","country_code":"US","type":"facility","lineage":["https://openalex.org/I1316902750","https://openalex.org/I4405287411"]},{"id":"https://openalex.org/I58956616","display_name":"Case Western Reserve University","ror":"https://ror.org/051fd9666","country_code":"US","type":"education","lineage":["https://openalex.org/I58956616"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Charis Eng","raw_affiliation_strings":["Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA","Genomic Medicine Institute","Germline High Risk Focus Group, CASE Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA","Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA","Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH 44195, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA","institution_ids":["https://openalex.org/I58956616"]},{"raw_affiliation_string":"Genomic Medicine Institute","institution_ids":[]},{"raw_affiliation_string":"Germline High Risk Focus Group, CASE Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA","institution_ids":["https://openalex.org/I4390039247","https://openalex.org/I58956616"]},{"raw_affiliation_string":"Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA","institution_ids":["https://openalex.org/I1316902750","https://openalex.org/I4405287411"]},{"raw_affiliation_string":"Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH 44195, USA","institution_ids":["https://openalex.org/I1316902750"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5038322204"],"corresponding_institution_ids":["https://openalex.org/I1316902750","https://openalex.org/I4390039247","https://openalex.org/I4405287411","https://openalex.org/I58956616"],"apc_list":{"value":4390,"currency":"USD","value_usd":4390},"apc_paid":{"value":4390,"currency":"USD","value_usd":4390},"fwci":1.5544,"has_fulltext":true,"cited_by_count":17,"citation_normalized_percentile":{"value":0.81982865,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"26","issue":"7","first_page":"1365","last_page":"1375"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10329","display_name":"Thyroid Cancer Diagnosis and Treatment","score":0.8300999999046326,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T10329","display_name":"Thyroid Cancer Diagnosis and Treatment","score":0.8300999999046326,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T10587","display_name":"Autophagy in Disease and Therapy","score":0.08179999887943268,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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"}},{"id":"https://openalex.org/T10631","display_name":"Cancer, Hypoxia, and Metabolism","score":0.005400000140070915,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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/cowden-syndrome","display_name":"Cowden syndrome","score":1.0},{"id":"https://openalex.org/keywords/sdhd","display_name":"SDHD","score":0.781000018119812},{"id":"https://openalex.org/keywords/succinate-dehydrogenase","display_name":"succinate dehydrogenase","score":0.9210000038146973},{"id":"https://openalex.org/keywords/pten","display_name":"PTEN","score":0.8870000243186951},{"id":"https://openalex.org/keywords/autophagy","display_name":"autophagy","score":0.8690000176429749},{"id":"https://openalex.org/keywords/thyroid-cancer","display_name":"thyroid cancer","score":0.9860000014305115},{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.890999972820282},{"id":"https://openalex.org/keywords/monoubiquitination","display_name":"monoubiquitination","score":0.9359999895095825},{"id":"https://openalex.org/keywords/foxo3a-phosphorylation","display_name":"FOXO3a phosphorylation","score":0.8899999856948853},{"id":"https://openalex.org/keywords/akt-signaling","display_name":"Akt signaling","score":0.9020000100135803},{"id":"https://openalex.org/keywords/autophagy-related-genes","display_name":"autophagy-related genes","score":0.7839999794960022},{"id":"https://openalex.org/keywords/thyroid-carcinogenesis","display_name":"thyroid carcinogenesis","score":0.8259999752044678},{"id":"https://openalex.org/keywords/sdhx-mutations","display_name":"SDHx mutations","score":0.4650000035762787}],"concepts":[{"id":"https://openalex.org/C2777609662","wikidata":"https://www.wikidata.org/wiki/Q416356","display_name":"PTEN","level":4,"score":0.8971939086914062},{"id":"https://openalex.org/C2776453936","wikidata":"https://www.wikidata.org/wiki/Q14864964","display_name":"SDHD","level":5,"score":0.8299242258071899},{"id":"https://openalex.org/C2780846426","wikidata":"https://www.wikidata.org/wiki/Q1138188","display_name":"Cowden syndrome","level":5,"score":0.7887082099914551},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.7426020503044128},{"id":"https://openalex.org/C2779761222","wikidata":"https://www.wikidata.org/wiki/Q826522","display_name":"Thyroid cancer","level":3,"score":0.6265685558319092},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6060978174209595},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.5576363801956177},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.48555275797843933},{"id":"https://openalex.org/C86554907","wikidata":"https://www.wikidata.org/wiki/Q285613","display_name":"PI3K/AKT/mTOR pathway","level":3,"score":0.3724769055843353},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3390161395072937},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3067137598991394},{"id":"https://openalex.org/C62478195","wikidata":"https://www.wikidata.org/wiki/Q828130","display_name":"Signal transduction","level":2,"score":0.16314861178398132},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.14839914441108704}],"mesh":[{"descriptor_ui":"D000071189","descriptor_name":"Autophagy-Related Protein-1 Homolog","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000071316","descriptor_name":"Forkhead Box Protein O3","qualifier_ui":"Q000096","qualifier_name":"biosynthesis","is_major_topic":false},{"descriptor_ui":"D000071316","descriptor_name":"Forkhead Box Protein O3","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001343","descriptor_name":"Autophagy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006223","descriptor_name":"Hamartoma Syndrome, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006223","descriptor_name":"Hamartoma Syndrome, Multiple","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013385","descriptor_name":"Succinate Dehydrogenase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D013964","descriptor_name":"Thyroid Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D013964","descriptor_name":"Thyroid Neoplasms","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D015398","descriptor_name":"Signal Transduction","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015972","descriptor_name":"Gene Expression Regulation, Neoplastic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018095","descriptor_name":"Germ-Line Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D045744","descriptor_name":"Cell Line, Tumor","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D047908","descriptor_name":"Intracellular Signaling Peptides and Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051058","descriptor_name":"Oncogene Protein v-akt","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051059","descriptor_name":"PTEN Phosphohydrolase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D063646","descriptor_name":"Carcinogenesis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1093/hmg/ddx037","doi":"https://doi.org/10.1093/hmg/ddx037","is_oa":true,"landing_page_url":"https://doi.org/10.1093/hmg/ddx037","pdf_url":"https://academic.oup.com/hmg/article-pdf/26/7/1365/13178183/ddx037.pdf","source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:4248774","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5390680","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmid:28164237","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/28164237","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":"Human molecular genetics","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:5390680","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC5390680/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hum Mol Genet","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/hmg/ddx037","doi":"https://doi.org/10.1093/hmg/ddx037","is_oa":true,"landing_page_url":"https://doi.org/10.1093/hmg/ddx037","pdf_url":"https://academic.oup.com/hmg/article-pdf/26/7/1365/13178183/ddx037.pdf","source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.98580002784729,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G6748611728","display_name":"Genetic and Signaling Pathways in Epithelial Thyroid Cancer","funder_award_id":"P01CA124570","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G9000887552","display_name":"Cancer Center Support Grant","funder_award_id":"P30CA016058","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"}],"funders":[{"id":"https://openalex.org/F4320306260","display_name":"Breast Cancer Research Foundation","ror":"https://ror.org/0348ff195"},{"id":"https://openalex.org/F4320309374","display_name":"Ohio State University","ror":"https://ror.org/00rs6vg23"},{"id":"https://openalex.org/F4320309680","display_name":"Cleveland Clinic","ror":"https://ror.org/03xjacd83"},{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2596801784.pdf","grobid_xml":"https://content.openalex.org/works/W2596801784.grobid-xml"},"referenced_works_count":39,"referenced_works":["https://openalex.org/W1523693806","https://openalex.org/W1884934928","https://openalex.org/W1972535033","https://openalex.org/W1972629615","https://openalex.org/W1977767269","https://openalex.org/W1989534634","https://openalex.org/W1996200651","https://openalex.org/W1997224953","https://openalex.org/W1997649361","https://openalex.org/W2014918593","https://openalex.org/W2025658684","https://openalex.org/W2028468396","https://openalex.org/W2031285399","https://openalex.org/W2034132952","https://openalex.org/W2039589725","https://openalex.org/W2041771374","https://openalex.org/W2041895857","https://openalex.org/W2049628810","https://openalex.org/W2058452903","https://openalex.org/W2067203045","https://openalex.org/W2068943550","https://openalex.org/W2073911787","https://openalex.org/W2075440846","https://openalex.org/W2095659495","https://openalex.org/W2099449638","https://openalex.org/W2111673352","https://openalex.org/W2122434534","https://openalex.org/W2130525010","https://openalex.org/W2131707839","https://openalex.org/W2139553262","https://openalex.org/W2139856782","https://openalex.org/W2140069298","https://openalex.org/W2140912399","https://openalex.org/W2147755975","https://openalex.org/W2154632002","https://openalex.org/W2162037934","https://openalex.org/W2165516672","https://openalex.org/W2469843518","https://openalex.org/W2743254891"],"related_works":["https://openalex.org/W2111673352","https://openalex.org/W2162037934","https://openalex.org/W3126968403","https://openalex.org/W1972535033","https://openalex.org/W2004134400","https://openalex.org/W7052371360","https://openalex.org/W4391646591","https://openalex.org/W2754664643","https://openalex.org/W4408988051","https://openalex.org/W2294758774"],"abstract_inverted_index":{"Thyroid":[0],"cancer":[1,6,41,54,113,158],"is":[2],"a":[3,11,33,93,233],"major":[4],"component":[5],"of":[7,39,52,90,100,111,133,142,176,185,190,197,203,207,211,223,236],"Cowden":[8],"syndrome":[9],"(CS),":[10],"disorder":[12],"typically":[13],"associated":[14],"with":[15,28,117,124,140,162],"germline":[16,30,119],"mutations":[17,31,120,126,165],"in":[18,22,76,97,114,156,160,195,214,248],"PTEN.":[19],"Germline":[20],"variants":[21,66,87],"succinate":[23],"dehydrogenase":[24],"genes":[25],"(SDHx)":[26],"co-occurring":[27],"PTEN":[29,71,125,139,146,164,240],"confer":[32],"2-fold":[34],"increased":[35,109],"prevalence":[36,49,110,159],"(OR":[37,50],"2.7)":[38],"thyroid":[40,53,77,102,112,157,249],"compared":[42,55,121],"to":[43,56,122],"PTEN-associated":[44],"CS":[45,115],"but":[46],"50%":[47],"decreased":[48,143],"0.54)":[51],"SDHx-associated":[57],"CS.":[58],"We":[59,169],"have":[60],"previously":[61],"shown":[62],"that":[63,83,172],"CS-associated":[64],"SDHD":[65,96],"G12S":[67],"and":[68,73,85,166,187,209,220,241,244],"H50R":[69],"induce":[70],"oxidation":[72],"nuclear":[74,216],"accumulation":[75],"cancer.":[78,103],"Our":[79],"current":[80],"study":[81,231],"shows":[82],"SDHD-G12S":[84],"-H50R":[86],"cause":[88],"down-regulation":[89,222],"autophagy,":[91],"demonstrating":[92],"role":[94],"for":[95,218],"autophagy-associated":[98],"pathogenesis":[99],"differentiated":[101],"These":[104],"findings":[105],"could":[106,150],"explain":[107,151],"the":[108,131,152,182],"patients":[116,161],"SDHx":[118,167],"those":[123],"alone.":[127],"Importantly,":[128],"we":[129],"demonstrate":[130],"dependence":[132],"this":[134],"process":[135],"on":[136],"functional":[137],"wild-type":[138],"reversal":[141],"autophagy":[144,242],"after":[145],"knockdown.":[147],"The":[148],"latter":[149],"clinically":[153],"observed":[154],"decrease":[155],"co-existent":[163],"variants.":[168],"also":[170],"show":[171],"SDHD-G12S/H50R":[173],"promotes":[174],"mono-ubiquitination":[175],"PTEN,":[177],"causing":[178],"its":[179,215],"translocation":[180],"into":[181],"nucleus,":[183],"upregulation":[184],"AKT":[186],"consequent":[188,221],"phosphorylation":[189,202,208],"FOXO3a.":[191,204],"Furthermore,":[192],"SDHD-G12S/H50R-mediated":[193],"increase":[194],"acetylation":[196,210],"FOXO3a":[198,212],"further":[199],"enhances":[200],"AKT-associated":[201],"This":[205],"combination":[206],"results":[213],"export":[217],"degradation":[219],"FOXO3a-target":[224],"autophagy-related":[225],"gene":[226],"(ATG)":[227],"expression.":[228],"Overall,":[229],"our":[230],"reveals":[232],"novel":[234],"mechanism":[235],"crosstalk":[237],"amongst":[238],"SDHD,":[239],"pathways":[243],"their":[245],"potential":[246],"roles":[247],"carcinogenesis.":[250]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":2}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2017-03-23T00:00:00"}