{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T17:48:54Z","timestamp":1790790534628,"version":"4.1.0"},"reference-count":70,"publisher":"BMJ","issue":"4","license":[{"start":{"date-parts":[[2022,9,7]],"date-time":"2022-09-07T00:00:00Z","timestamp":1662508800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["CIBERER: ACCI19P2AC720-1"],"award-info":[{"award-number":["CIBERER: ACCI19P2AC720-1"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PID2019-107188RB-C21"],"award-info":[{"award-number":["PID2019-107188RB-C21"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["SAF2016-75946R"],"award-info":[{"award-number":["SAF2016-75946R"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"name":"institut de Recerca Sant joan de Deu","award":["Carmen de Torres 2021"],"award-info":[{"award-number":["Carmen de Torres 2021"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2022,7,27]]},"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Schaaf-Yang syndrome (SYS) is caused by truncating mutations in\n                      <jats:italic>MAGEL2<\/jats:italic>\n                      , mapping to the Prader-Willi region (15q11-q13), with an observed phenotype partially overlapping that of Prader-Willi syndrome. MAGEL2 plays a role in retrograde transport and protein recycling regulation. Our aim is to contribute to the characterisation of SYS pathophysiology at clinical, genetic and molecular levels.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We performed an extensive phenotypic and mutational revision of previously reported patients with SYS. We analysed the secretion levels of amyloid-\u03b2 1\u201340 peptide (A\u03b2\n                      <jats:sub>1-40<\/jats:sub>\n                      ) and performed targeted metabolomic and transcriptomic profiles in fibroblasts of patients with SYS (n=7) compared with controls (n=11). We also transfected cell lines with vectors encoding wild-type (WT) or mutated MAGEL2 to assess stability and subcellular localisation of the truncated protein.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Functional studies show significantly decreased levels of secreted A\u03b2\n                      <jats:sub>1-40<\/jats:sub>\n                      and intracellular glutamine in SYS fibroblasts compared with WT. We also identified 132 differentially expressed genes, including non-coding RNAs (ncRNAs) such as\n                      <jats:italic>HOTAIR<\/jats:italic>\n                      , and many of them related to developmental processes and mitotic mechanisms. The truncated form of MAGEL2 displayed a stability similar to the WT but it was significantly switched to the nucleus, compared with a mainly cytoplasmic distribution of the WT MAGEL2. Based on the updated knowledge, we offer guidelines for the clinical management of patients with SYS.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      A truncated MAGEL2 protein is stable and localises mainly in the nucleus, where it might exert a pathogenic neomorphic effect. A\u03b2\n                      <jats:sub>1-40<\/jats:sub>\n                      secretion levels and\n                      <jats:italic>HOTAIR<\/jats:italic>\n                      mRNA levels might be promising biomarkers for SYS. Our findings may improve SYS understanding and clinical management.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jmg-2022-108690","type":"journal-article","created":{"date-parts":[[2022,9,7]],"date-time":"2022-09-07T13:28:58Z","timestamp":1662557338000},"page":"406-415","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":12,"title":["Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2"],"prefix":"10.1136","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2260-9664","authenticated-orcid":false,"given":"Laura","family":"Castilla-Vallmanya","sequence":"first","affiliation":[{"name":"Department of Genetics, Microbiology and Statistics, IBUB, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain"},{"name":"Institut de Recerca Sant Joan de D\u00e9u, Espluques de Llobregat, Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8881-0264","authenticated-orcid":false,"given":"M\u00f3nica","family":"Centeno-Pla","sequence":"additional","affiliation":[{"name":"Department of Genetics, Microbiology and Statistics, IBUB, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain"},{"name":"Institut de Recerca Sant Joan de D\u00e9u, Espluques de Llobregat, Barcelona, Spain"},{"name":"Clinical Biochemistry Department, Hospital Sant Joan de D\u00e9u, Esplugues de Llobregat, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2056-2428","authenticated-orcid":false,"given":"Mercedes","family":"Serrano","sequence":"additional","affiliation":[{"name":"Institut de Recerca Sant Joan de D\u00e9u, Espluques de Llobregat, Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain"},{"name":"Neurology Department, Hospital Sant Joan de D\u00e9u, Esplugues de Llobregat, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9ctor","family":"Franco-Valls","sequence":"additional","affiliation":[{"name":"Department of Genetics, Microbiology and Statistics, IBUB, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ra\u00fal","family":"Mart\u00ednez-Cabrera","sequence":"additional","affiliation":[{"name":"Department of Genetics, Microbiology and Statistics, IBUB, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3040-6549","authenticated-orcid":false,"given":"Aina","family":"Prat-Planas","sequence":"additional","affiliation":[{"name":"Department of Genetics, Microbiology and Statistics, IBUB, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain"},{"name":"Institut de Recerca Sant Joan de D\u00e9u, Espluques de Llobregat, Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Rojano","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Biochemistry; Institute of Biomedical Research in M\u00e1laga (IBIMA), University of M\u00e1laga, M\u00e1laga, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan A G","family":"Ranea","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain"},{"name":"Department of Molecular Biology and Biochemistry; Institute of Biomedical Research in M\u00e1laga (IBIMA), University of M\u00e1laga, M\u00e1laga, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro","family":"Seoane","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain"},{"name":"Department of Molecular Biology and Biochemistry; Institute of Biomedical Research in M\u00e1laga (IBIMA), University of M\u00e1laga, M\u00e1laga, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara","family":"Oliva","sequence":"additional","affiliation":[{"name":"Institut de Recerca Sant Joan de D\u00e9u, Espluques de Llobregat, Barcelona, Spain"},{"name":"Clinical Biochemistry Department, Hospital Sant Joan de D\u00e9u, Esplugues de Llobregat, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7163-2385","authenticated-orcid":false,"given":"Abraham J","family":"Paredes-Fuentes","sequence":"additional","affiliation":[{"name":"Institut de Recerca Sant Joan de D\u00e9u, Espluques de Llobregat, Barcelona, Spain"},{"name":"Clinical Biochemistry Department, Hospital Sant Joan de D\u00e9u, Esplugues de Llobregat, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7941-983X","authenticated-orcid":false,"given":"Gemma","family":"Marfany","sequence":"additional","affiliation":[{"name":"Department of Genetics, Microbiology and Statistics, IBUB, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain"},{"name":"Institut de Recerca Sant Joan de D\u00e9u, Espluques de Llobregat, Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3422-9685","authenticated-orcid":false,"given":"Rafael","family":"Artuch","sequence":"additional","affiliation":[{"name":"Institut de Recerca Sant Joan de D\u00e9u, Espluques de Llobregat, Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain"},{"name":"Clinical Biochemistry Department, Hospital Sant Joan de D\u00e9u, Esplugues de Llobregat, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9859-2590","authenticated-orcid":false,"given":"Daniel","family":"Grinberg","sequence":"additional","affiliation":[{"name":"Department of Genetics, Microbiology and Statistics, IBUB, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain"},{"name":"Institut de Recerca Sant Joan de D\u00e9u, Espluques de Llobregat, Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5006-8140","authenticated-orcid":false,"given":"Raquel","family":"Rabionet","sequence":"additional","affiliation":[{"name":"Department of Genetics, Microbiology and Statistics, IBUB, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain"},{"name":"Institut de Recerca Sant Joan de D\u00e9u, Espluques de Llobregat, Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1211-1907","authenticated-orcid":false,"given":"Susanna","family":"Balcells","sequence":"additional","affiliation":[{"name":"Department of Genetics, Microbiology and Statistics, IBUB, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain"},{"name":"Institut de Recerca Sant Joan de D\u00e9u, Espluques de Llobregat, Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3617-7134","authenticated-orcid":false,"given":"Roser","family":"Urreizti","sequence":"additional","affiliation":[{"name":"Institut de Recerca Sant Joan de D\u00e9u, Espluques de Llobregat, Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain"},{"name":"Clinical Biochemistry Department, Hospital Sant Joan de D\u00e9u, Esplugues de Llobregat, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2022,9,7]]},"reference":[{"key":"2025101712354495000_60.4.406.1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2776"},{"key":"2025101712354495000_60.4.406.2","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3010076"},{"key":"2025101712354495000_60.4.406.3","doi-asserted-by":"publisher","DOI":"10.1038\/srep44138"},{"key":"2025101712354495000_60.4.406.4","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.53"},{"key":"2025101712354495000_60.4.406.5","doi-asserted-by":"crossref","first-page":"1285","DOI":"10.1038\/gim.2017.42","article-title":"Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example","volume":"19","author":"Palomares-Bralo","year":"2017","journal-title":"Genet Med"},{"key":"2025101712354495000_60.4.406.6","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1002\/ajmg.a.38606","article-title":"Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities","volume":"176","author":"Enya","year":"2018","journal-title":"Am J Med Genet A"},{"key":"2025101712354495000_60.4.406.7","doi-asserted-by":"publisher","DOI":"10.5812\/ijem.67329"},{"key":"2025101712354495000_60.4.406.8","doi-asserted-by":"crossref","first-page":"2456","DOI":"10.1002\/ajmg.a.40486","article-title":"The role of obesity in the fatal outcome of Schaaf-Yang syndrome: early onset morbid obesity in a patient with a MAGEL2 mutation","volume":"176","author":"Kleinendorst","year":"2018","journal-title":"Am J Med Genet A"},{"key":"2025101712354495000_60.4.406.9","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1097\/MCD.0000000000000212","article-title":"Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene","volume":"27","author":"Matuszewska","year":"2018","journal-title":"Clin Dysmorphol"},{"key":"2025101712354495000_60.4.406.10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40650"},{"key":"2025101712354495000_60.4.406.11","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-105024"},{"key":"2025101712354495000_60.4.406.12","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1016\/j.ejmg.2018.04.007","article-title":"Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum","volume":"61","author":"Bayat","year":"2018","journal-title":"Eur J Med Genet"},{"key":"2025101712354495000_60.4.406.13","doi-asserted-by":"crossref","unstructured":"Poliak N , Rajan P . Magel2 gene mutation and its associated phenotypic features in a five-month-old female. J Pediatr Neonatal Care 2018;8.doi:10.15406\/jpnc.2018.08.00312","DOI":"10.15406\/jpnc.2018.08.00312"},{"key":"2025101712354495000_60.4.406.14","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-018-23503-2","article-title":"Whole-Exome sequencing helps the diagnosis and treatment in children with neurodevelopmental delay accompanied unexplained dyspnea","volume":"8","author":"Tong","year":"2018","journal-title":"Sci Rep"},{"key":"2025101712354495000_60.4.406.15","doi-asserted-by":"crossref","first-page":"5737","DOI":"10.1210\/jc.2019-00631","article-title":"Mutations in MAGEL2 and L1CAM are associated with congenital hypopituitarism and arthrogryposis","volume":"104","author":"Gregory","year":"2019","journal-title":"J Clin Endocrinol Metab"},{"key":"2025101712354495000_60.4.406.16","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-019-1249-4","article-title":"Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy","volume":"14","author":"Negishi","year":"2019","journal-title":"Orphanet J Rare Dis"},{"key":"2025101712354495000_60.4.406.17","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1111\/cge.13620","article-title":"MAGEL2-related disorders: a study and case series","volume":"96","author":"Patak","year":"2019","journal-title":"Clin Genet"},{"key":"2025101712354495000_60.4.406.18","doi-asserted-by":"crossref","unstructured":"de Andrade G , de Oliveira Silva T , Nascimento do , Boath A , Cunha K , Chermont A . Schaaf-Yang syndrome: a novel variant in Magel2 gene in the first Brazilian preterm neonate. Int J Case Rep Images 2020;11.doi:10.5348\/101144Z01GA2020CR","DOI":"10.5348\/101144Z01GA2020CR"},{"key":"2025101712354495000_60.4.406.19","doi-asserted-by":"crossref","DOI":"10.1097\/MD.0000000000023864","article-title":"Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia","volume":"99","author":"Ahn","year":"2020","journal-title":"Medicine"},{"key":"2025101712354495000_60.4.406.20","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1159\/000501376","article-title":"A recurrent variant in MAGEL2 in five siblings with severe respiratory disturbance after birth","volume":"10","author":"Xiao","year":"2020","journal-title":"Mol Syndromol"},{"key":"2025101712354495000_60.4.406.21","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-020-01557-8","article-title":"The adult phenotype of Schaaf-Yang syndrome","volume":"15","author":"Marbach","year":"2020","journal-title":"Orphanet J Rare Dis"},{"key":"2025101712354495000_60.4.406.22","doi-asserted-by":"crossref","unstructured":"LLamos-Paneque A , G\u00f3mez-Garc\u00eda A , Rivas-Iglesias C , Garz\u00f3n- Castro M , Hern\u00e1ndez-I\u00f1iguez M , Recalde-B\u00e1ez M . Schaaf-Yang syndrome: an example of genomic imprinting and expanding phenotype. J Mol Genet Med 2020;14.doi:10.37421\/jmgm.2020.14.452","DOI":"10.37421\/jmgm.2020.14.452"},{"key":"2025101712354495000_60.4.406.23","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-00713-9"},{"key":"2025101712354495000_60.4.406.24","article-title":"Schaaf-Yang syndrome: a real challenge for prenatal diagnosis","volume":"13","author":"Nunes","year":"2021","journal-title":"Cureus"},{"key":"2025101712354495000_60.4.406.25","doi-asserted-by":"crossref","DOI":"10.1097\/MD.0000000000026309","article-title":"Phenotypic spectrum and mechanism analysis of Schaff Yang syndrome: a case report on new mutation of Magel2 gene","volume":"100","author":"Duan","year":"2021","journal-title":"Medicine"},{"key":"2025101712354495000_60.4.406.26","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2021.104252","article-title":"Expanding the spectrum of endocrinopathies identified in Schaaf-Yang syndrome - A case report and review of the literature","volume":"64","author":"Halloun","year":"2021","journal-title":"Eur J Med Genet"},{"key":"2025101712354495000_60.4.406.27","doi-asserted-by":"crossref","DOI":"10.1136\/jmedgenet-2020-107595","article-title":"Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita","volume":"59","author":"Laquerriere","year":"2022","journal-title":"J Med Genet"},{"key":"2025101712354495000_60.4.406.28","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-021-00855-5"},{"key":"2025101712354495000_60.4.406.29","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2019.00864","article-title":"Genotype-phenotype relationships and endocrine findings in Prader-Willi syndrome","volume":"10","author":"Costa","year":"2019","journal-title":"Front Endocrinol"},{"key":"2025101712354495000_60.4.406.30","doi-asserted-by":"crossref","DOI":"10.3390\/diseases4010002","article-title":"Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene","volume":"4","author":"Fountain","year":"2016","journal-title":"Diseases"},{"key":"2025101712354495000_60.4.406.31","doi-asserted-by":"crossref","first-page":"2491","DOI":"10.1007\/s10803-018-3775-7","article-title":"Neurocognitive and neurobehavioral phenotype of youth with Schaaf-Yang syndrome","volume":"50","author":"Thomason","year":"2020","journal-title":"J Autism Dev Disord"},{"key":"2025101712354495000_60.4.406.32","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-105222"},{"key":"2025101712354495000_60.4.406.33","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1016\/j.ajhg.2015.08.010","article-title":"Truncating mutations of Magel2, a gene within the Prader-Willi locus, are responsible for severe arthrogryposis","volume":"97","author":"Mejlachowicz","year":"2015","journal-title":"Am J Hum Genet"},{"key":"2025101712354495000_60.4.406.34","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1002\/humu.23935","article-title":"Trio-whole-exome sequencing and preimplantation genetic diagnosis for unexplained recurrent fetal malformations","volume":"41","author":"Guo","year":"2020","journal-title":"Hum Mutat"},{"key":"2025101712354495000_60.4.406.35","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2653"},{"key":"2025101712354495000_60.4.406.36","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.138576","article-title":"Loss of Magel2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide production","volume":"5","author":"Chen","year":"2020","journal-title":"JCI Insight"},{"key":"2025101712354495000_60.4.406.37","doi-asserted-by":"publisher","DOI":"10.1038\/ng2114"},{"key":"2025101712354495000_60.4.406.38","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.12.1813"},{"key":"2025101712354495000_60.4.406.39","doi-asserted-by":"crossref","DOI":"10.1016\/j.jbc.2021.100959","article-title":"The N-terminal domain of the Schaaf-Yang syndrome protein Magel2 likely has a role in RNA metabolism","volume":"297","author":"Sanderson","year":"2021","journal-title":"J Biol Chem"},{"key":"2025101712354495000_60.4.406.40","doi-asserted-by":"publisher","DOI":"10.1042\/BCJ20160616"},{"key":"2025101712354495000_60.4.406.41","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2013.01.051"},{"key":"2025101712354495000_60.4.406.42","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2015.07.033"},{"key":"2025101712354495000_60.4.406.43","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a016774","article-title":"Retromer: a master conductor of endosome sorting","volume":"6","author":"Burd","year":"2014","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"2025101712354495000_60.4.406.44","first-page":"697","article-title":"The role of membrane trafficking in the processing of amyloid precursor protein and production of amyloid peptides in Alzheimer\u2019s disease","volume":"2019","author":"JZA","year":"1861","journal-title":"Biochim Biophys Acta Biomembr"},{"key":"2025101712354495000_60.4.406.45","doi-asserted-by":"publisher","DOI":"10.1038\/sj.emboj.7600390"},{"key":"2025101712354495000_60.4.406.46","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2004.09.020"},{"key":"2025101712354495000_60.4.406.47","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.4660-04.2005"},{"key":"2025101712354495000_60.4.406.48","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20667"},{"key":"2025101712354495000_60.4.406.49","doi-asserted-by":"publisher","DOI":"10.1038\/nchembio.1508"},{"key":"2025101712354495000_60.4.406.50","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0802545105"},{"key":"2025101712354495000_60.4.406.51","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201702137"},{"key":"2025101712354495000_60.4.406.52","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2007.131"},{"key":"2025101712354495000_60.4.406.53","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-10-122"},{"key":"2025101712354495000_60.4.406.54","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2025101712354495000_60.4.406.55","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.232"},{"key":"2025101712354495000_60.4.406.56","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-40"},{"key":"2025101712354495000_60.4.406.57","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2010.08.029"},{"key":"2025101712354495000_60.4.406.58","doi-asserted-by":"crossref","DOI":"10.3390\/cancers12051197","article-title":"Long non-coding RNA HOTAIR in breast cancer therapy","volume":"12","author":"Cantile","year":"2020","journal-title":"Cancers"},{"key":"2025101712354495000_60.4.406.59","doi-asserted-by":"crossref","DOI":"10.3390\/ijms221810160","article-title":"The role of lncRNAs in rare tumors with a focus on Hox transcript antisense RNA (HOTAIR)","volume":"22","author":"Liguori","year":"2021","journal-title":"Int J Mol Sci"},{"key":"2025101712354495000_60.4.406.60","doi-asserted-by":"publisher","DOI":"10.1186\/1756-8935-6-25"},{"key":"2025101712354495000_60.4.406.61","doi-asserted-by":"publisher","DOI":"10.1186\/s12943-019-0990-6"},{"key":"2025101712354495000_60.4.406.62","doi-asserted-by":"crossref","first-page":"1902","DOI":"10.3892\/or.2017.5840","article-title":"Promotion of glycolysis by HOTAIR through GLUT1 upregulation via mTOR signaling","volume":"38","author":"Wei","year":"2017","journal-title":"Oncol Rep"},{"key":"2025101712354495000_60.4.406.63","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-019-52287-2","article-title":"mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome","volume":"9","author":"Crutcher","year":"2019","journal-title":"Sci Rep"},{"key":"2025101712354495000_60.4.406.64","doi-asserted-by":"publisher","DOI":"10.1038\/gim.0b013e31822bead0"},{"key":"2025101712354495000_60.4.406.65","doi-asserted-by":"crossref","first-page":"30S","DOI":"10.1177\/0884533617691250","article-title":"Acquired amino acid deficiencies: a focus on arginine and glutamine","volume":"32","author":"Morris","year":"2017","journal-title":"Nutr Clin Pract"},{"key":"2025101712354495000_60.4.406.66","doi-asserted-by":"crossref","DOI":"10.1038\/s41467-022-28331-7","article-title":"Physiological synaptic activity and recognition memory require astroglial glutamine","volume":"13","author":"Cheung","year":"2022","journal-title":"Nat Commun"},{"key":"2025101712354495000_60.4.406.67","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1002\/ajmg.b.32472","article-title":"Reduced gamma-aminobutyric acid is associated with emotional and behavioral problems in Prader-Willi syndrome","volume":"171","author":"Rice","year":"2016","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"2025101712354495000_60.4.406.68","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201903006"},{"key":"2025101712354495000_60.4.406.69","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2013.04.023"},{"key":"2025101712354495000_60.4.406.70","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-021-94343-w","article-title":"Gene expression analysis method integration and co-expression module detection applied to rare glucide metabolism disorders using ExpHunterSuite","volume":"11","author":"Jabato","year":"2021","journal-title":"Sci Rep"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg-2022-108690","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:35:57Z","timestamp":1760729757000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg-2022-108690"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,7]]},"references-count":70,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2023,3,20]]},"published-print":{"date-parts":[[2023,4]]}},"alternative-id":["10.1136\/jmg-2022-108690"],"URL":"https:\/\/doi.org\/10.1136\/jmg-2022-108690","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2022.05.04.22274475","asserted-by":"object"}]},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,7]]}}}