{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,24]],"date-time":"2025-06-24T01:40:02Z","timestamp":1750729202395,"version":"3.41.0"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,6,23]]},"DOI":"10.7759\/cureus.86622","type":"journal-article","created":{"date-parts":[[2025,6,24]],"date-time":"2025-06-24T01:01:18Z","timestamp":1750726878000},"source":"Crossref","is-referenced-by-count":0,"title":["Inherited Lipodystrophy Associated With POLD1 and CAVIN1 Mutations: Two Cases From the Indian Subcontinent"],"prefix":"10.7759","author":[{"given":"Shanmugam","family":"Sreekumar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Subbiah","family":"Sridhar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Palaniappan","family":"Sreenivasan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sengottaiyan","family":"Palanivel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vijai Shankar","family":"Chidambara Manivasagam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dhivya","family":"Shanmugam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-022-01374-x","article-title":"A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient","volume":"15","author":"Zuo B","year":"2022","unstructured":"Zuo B, Xu H, Pan Z, et al.. A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient. BMC Med Genomics. 2022, 15:220. 10.1186\/s12920-022-01374-x","journal-title":"BMC Med Genomics"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1186\/s40842-020-00095-3","article-title":"Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X CAVIN1 gene variant","volume":"6","author":"Sorkina E","year":"2020","unstructured":"Sorkina E, Makarova P, Bolotskaya L, Ulyanova I, Chernova T, Tiulpakov A. Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X CAVIN1 gene variant. Clin Diabetes Endocrinol. 2020, 6:7. 10.1186\/s40842-020-00095-3","journal-title":"Clin Diabetes Endocrinol"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1677\/JOE-10-0272","article-title":"Lipodystrophy: metabolic insights from a rare disorder","volume":"207","author":"Huang-Doran I","year":"2010","unstructured":"Huang-Doran I, Sleigh A, Rochford JJ, O'Rahilly S, Savage DB. Lipodystrophy: metabolic insights from a rare disorder. J Endocrinol. 2010, 207:245-55. 10.1677\/JOE-10-0272","journal-title":"J Endocrinol"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-1159","article-title":"Lipodystrophies: genetic and acquired body fat disorders","volume":"96","author":"Garg A","year":"2011","unstructured":"Garg A. Lipodystrophies: genetic and acquired body fat disorders. J Clin Endocrinol Metab. 2011, 96:3313-25. 10.1210\/jc.2011-1159","journal-title":"J Clin Endocrinol Metab"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-024-79516-7","article-title":"A series of genetically confirmed congenital lipodystrophy and diabetes in adult southern Indian patients","volume":"14","author":"Rajan R","year":"2024","unstructured":"Rajan R, Chapla A, Johnson J, et al.. A series of genetically confirmed congenital lipodystrophy and diabetes in adult southern Indian patients. Sci Rep. 2024, 14:28277. 10.1038\/s41598-024-79516-7","journal-title":"Sci Rep"},{"key":"ref6","article-title":"Highly active antiretroviral therapy-associated lipodystrophy: pseudo-Cushing's syndrome","volume":"71","author":"Sridhar S","year":"2023","unstructured":"Sridhar S, Sangumani J. Highly active antiretroviral therapy-associated lipodystrophy: pseudo-Cushing's syndrome. J Assoc Physicians India. 2023, 71:11-2.","journal-title":"J Assoc Physicians India"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-0419","article-title":"A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism","volume":"95","author":"Shastry S","year":"2010","unstructured":"Shastry S, Simha V, Godbole K, et al.. A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism. J Clin Endocrinol Metab. 2010, 95:E192-7. 10.1210\/jc.2010-0419","journal-title":"J Clin Endocrinol Metab"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2012-0240","article-title":"An unusual cause of delayed puberty: Berardinelli-Seip syndrome","volume":"25","author":"Upreti V","year":"2012","unstructured":"Upreti V, Dhull P, Patnaik SK, Kumar KV. An unusual cause of delayed puberty: Berardinelli-Seip syndrome. J Pediatr Endocrinol Metab. 2012, 25:1157-60. 10.1515\/jpem-2012-0240","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref9","doi-asserted-by":"crossref","DOI":"10.1016\/S1098-3597(06)80039-6","article-title":"Adipose tissue dysfunction in obesity and lipodystrophy","volume":"8","author":"Garg A","year":"2006","unstructured":"Garg A. Adipose tissue dysfunction in obesity and lipodystrophy. Clin Cornerstone. 2006, 8:S7-S13.","journal-title":"Clin Cornerstone"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1042\/BST0360348","article-title":"Fatty acids and glucolipotoxicity in the pathogenesis of type 2 diabetes","volume":"36","author":"Cnop M","year":"2008","unstructured":"Cnop M. Fatty acids and glucolipotoxicity in the pathogenesis of type 2 diabetes. Biochem Soc Trans. 2008, 36:348-52. 10.1042\/BST0360348","journal-title":"Biochem Soc Trans"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1007\/s10815-007-9167-0","article-title":"Expression profile of genes coding for DNA repair in human oocytes using pangenomic microarrays, with a special focus on ROS linked decays","volume":"24","author":"Menezo Y Jr","year":"2007","unstructured":"Menezo Y Jr, Russo G, Tosti E, El Mouatassim S, Benkhalifa M. Expression profile of genes coding for DNA repair in human oocytes using pangenomic microarrays, with a special focus on ROS linked decays. J Assist Reprod Genet. 2007, 24:513-20. 10.1007\/s10815-007-9167-0","journal-title":"J Assist Reprod Genet"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1172\/JCI38660","article-title":"Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy","volume":"119","author":"Hayashi YK","year":"2009","unstructured":"Hayashi YK, Matsuda C, Ogawa M, et al.. Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. J Clin Invest. 2009, 119:2623-33. 10.1172\/JCI38660","journal-title":"J Clin Invest"},{"key":"ref13","article-title":"Achalasia cardia: a comprehensive review","volume":"9","author":"Ramchandani M","year":"2020","unstructured":"Ramchandani M, Pal P. Achalasia cardia: a comprehensive review. EMJ Gastroenterol. 2020, 9:106-117.","journal-title":"EMJ Gastroenterol"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v22.i35.7892","article-title":"New insights into the pathophysiology of achalasia and implications for future treatment","volume":"22","author":"Furuzawa-Carballeda J","year":"2016","unstructured":"Furuzawa-Carballeda J, Torres-Landa S, Valdovinos M\u00c1, Coss-Adame E, Del Campo LA, Torres-Villalobos G. New insights into the pathophysiology of achalasia and implications for future treatment. World J Gastroenterol. 2016, 22:7892-907. 10.3748\/wjg.v22.i35.7892","journal-title":"World J Gastroenterol"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1007\/s11892-022-01485-w","article-title":"Lipodystrophy for the diabetologist-what to look for","volume":"22","author":"Patni N","year":"2022","unstructured":"Patni N, Garg A. Lipodystrophy for the diabetologist-what to look for. Curr Diab Rep. 2022, 22:461-70. 10.1007\/s11892-022-01485-w","journal-title":"Curr Diab Rep"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.4158\/EP.13.6.656","article-title":"Efficacy and safety of pioglitazone in treatment of a patient with an atypical partial lipodystrophy syndrome","volume":"13","author":"Sleilati GG","year":"2007","unstructured":"Sleilati GG, Leff T, Bonnett JW, Hegele RA. Efficacy and safety of pioglitazone in treatment of a patient with an atypical partial lipodystrophy syndrome. Endocr Pract. 2007, 13:656-61. 10.4158\/EP.13.6.656","journal-title":"Endocr Pract"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa012437","article-title":"Leptin-replacement therapy for lipodystrophy","volume":"346","author":"Oral EA","year":"2002","unstructured":"Oral EA, Simha V, Ruiz E, et al.. Leptin-replacement therapy for lipodystrophy. N Engl J Med. 2002, 346:570-8. 10.1056\/NEJMoa012437","journal-title":"N Engl J Med"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2022.879979","article-title":"Treatment options for lipodystrophy in children","volume":"13","author":"Mainieri F","year":"2022","unstructured":"Mainieri F, Tagi VM, Chiarelli F. Treatment options for lipodystrophy in children. Front Endocrinol (Lausanne). 2022, 13:879979. 10.3389\/fendo.2022.879979","journal-title":"Front Endocrinol (Lausanne)"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1172\/JCI7901","article-title":"Surgical implantation of adipose tissue reverses diabetes in lipoatrophic mice","volume":"105","author":"Gavrilova O","year":"2000","unstructured":"Gavrilova O, Marcus-Samuels B, Graham D, et al.. Surgical implantation of adipose tissue reverses diabetes in lipoatrophic mice. J Clin Invest. 2000, 105:271-8. 10.1172\/JCI7901","journal-title":"J Clin Invest"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2024.1468824","article-title":"Exploring lipodystrophy gene expression in adipocytes: unveiling insights into the pathogenesis of insulin resistance, type 2 diabetes, and clustering diseases (metabolic syndrome) in Asian Indians","volume":"15","author":"Saxena A","year":"2024","unstructured":"Saxena A, Tiwari P, Gupta S, et al.. Exploring lipodystrophy gene expression in adipocytes: unveiling insights into the pathogenesis of insulin resistance, type 2 diabetes, and clustering diseases (metabolic syndrome) in Asian Indians. Front Endocrinol (Lausanne). 2024, 15:1468824. 10.3389\/fendo.2024.1468824","journal-title":"Front Endocrinol (Lausanne)"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/370742-inherited-lipodystrophy-associated-with-pold1-and-cavin1-mutations-two-cases-from-the-indian-subcontinent","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,24]],"date-time":"2025-06-24T01:01:19Z","timestamp":1750726879000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/370742-inherited-lipodystrophy-associated-with-pold1-and-cavin1-mutations-two-cases-from-the-indian-subcontinent"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,23]]},"references-count":20,"URL":"https:\/\/doi.org\/10.7759\/cureus.86622","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2025,6,23]]}}}