{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T17:48:55Z","timestamp":1790790535600,"version":"4.1.0"},"reference-count":219,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T00:00:00Z","timestamp":1692748800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Texas Tech University start-up","award":["RR200059"],"award-info":[{"award-number":["RR200059"]}]},{"name":"Texas Tech University start-up","award":["22-0321"],"award-info":[{"award-number":["22-0321"]}]},{"name":"Texas Tech University start-up","award":["23-0447"],"award-info":[{"award-number":["23-0447"]}]},{"DOI":"10.13039\/100004917","name":"Cancer Prevention and Research Institute (CPRIT) of Texas Scholar Award","doi-asserted-by":"publisher","award":["RR200059"],"award-info":[{"award-number":["RR200059"]}],"id":[{"id":"10.13039\/100004917","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004917","name":"Cancer Prevention and Research Institute (CPRIT) of Texas Scholar Award","doi-asserted-by":"publisher","award":["22-0321"],"award-info":[{"award-number":["22-0321"]}],"id":[{"id":"10.13039\/100004917","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004917","name":"Cancer Prevention and Research Institute (CPRIT) of Texas Scholar Award","doi-asserted-by":"publisher","award":["23-0447"],"award-info":[{"award-number":["23-0447"]}],"id":[{"id":"10.13039\/100004917","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Foundation for Prader\u2013Willi Syndrome (FPWR) Grants","award":["RR200059"],"award-info":[{"award-number":["RR200059"]}]},{"name":"Foundation for Prader\u2013Willi Syndrome (FPWR) Grants","award":["22-0321"],"award-info":[{"award-number":["22-0321"]}]},{"name":"Foundation for Prader\u2013Willi Syndrome (FPWR) Grants","award":["23-0447"],"award-info":[{"award-number":["23-0447"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>The hypothalamus regulates fundamental aspects of physiological homeostasis and behavior, including stress response, reproduction, growth, sleep, and feeding, several of which are affected in patients with Prader\u2013Willi (PWS) and Schaaf\u2013Yang syndrome (SYS). PWS is caused by paternal deletion, maternal uniparental disomy, or imprinting defects that lead to loss of expression of a maternally imprinted region of chromosome 15 encompassing non-coding RNAs and five protein-coding genes; SYS patients have a mutation in one of them, MAGEL2. Throughout life, PWS and SYS patients suffer from musculoskeletal deficiencies, intellectual disabilities, and hormonal abnormalities, which lead to compulsive behaviors like hyperphagia and temper outbursts. Management of PWS and SYS is mostly symptomatic and cures for these debilitating disorders do not exist, highlighting a clear, unmet medical need. Research over several decades into the molecular and cellular roles of PWS genes has uncovered that several impinge on the neuroendocrine system. In this review, we will discuss the expression and molecular functions of PWS genes, connecting them with hormonal imbalances in patients and animal models. Besides the observed hormonal imbalances, we will describe the recent findings about how the loss of individual genes, particularly MAGEL2, affects the molecular mechanisms of hormone secretion. These results suggest that MAGEL2 evolved as a mammalian-specific regulator of hypothalamic neuroendocrine function.<\/jats:p>","DOI":"10.3390\/ijms241713109","type":"journal-article","created":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T07:25:24Z","timestamp":1692775524000},"page":"13109","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Hormonal Imbalances in Prader\u2013Willi and Schaaf\u2013Yang Syndromes Imply the Evolution of Specific Regulation of Hypothalamic Neuroendocrine Function in Mammals"],"prefix":"10.3390","volume":"24","author":[{"given":"Maria Camila","family":"Hoyos Sanchez","sequence":"first","affiliation":[{"name":"School of Veterinary Medicine, Texas Tech University, 7671 Evans Dr., Amarillo, TX 79106, USA"},{"name":"Texas Center for Comparative Cancer Research (TC3R), Amarillo, TX 79106, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tara","family":"Bayat","sequence":"additional","affiliation":[{"name":"School of Veterinary Medicine, Texas Tech University, 7671 Evans Dr., Amarillo, TX 79106, USA"},{"name":"Texas Center for Comparative Cancer Research (TC3R), Amarillo, TX 79106, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4736-3154","authenticated-orcid":false,"given":"Rebecca R. Florke","family":"Gee","sequence":"additional","affiliation":[{"name":"School of Veterinary Medicine, Texas Tech University, 7671 Evans Dr., Amarillo, TX 79106, USA"},{"name":"Texas Center for Comparative Cancer Research (TC3R), Amarillo, TX 79106, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1928-7745","authenticated-orcid":false,"given":"Klementina","family":"Fon Tacer","sequence":"additional","affiliation":[{"name":"School of Veterinary Medicine, Texas Tech University, 7671 Evans Dr., Amarillo, TX 79106, USA"},{"name":"Texas Center for Comparative Cancer Research (TC3R), Amarillo, TX 79106, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1038\/gim.0b013e31822bead0","article-title":"Prader-Willi syndrome","volume":"14","author":"Cassidy","year":"2012","journal-title":"Genet. 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