{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T00:30:47Z","timestamp":1759883447498,"version":"build-2065373602"},"reference-count":35,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100004920","name":"Royan Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004920","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2025,9]]},"DOI":"10.1016\/j.gene.2025.149683","type":"journal-article","created":{"date-parts":[[2025,7,28]],"date-time":"2025-07-28T18:53:49Z","timestamp":1753728829000},"page":"149683","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Association of the Rs2070075 GALT gene variant with Iranian primary ovarian insufficiency patients"],"prefix":"10.1016","volume":"966","author":[{"given":"Farzaneh","family":"Adibi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Parnaz Borjian","family":"Boroujeni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4530-4596","authenticated-orcid":false,"given":"Azadeh","family":"Ghaheri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehri","family":"Mashayekhi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Navid","family":"Almadani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5453-9576","authenticated-orcid":false,"given":"Masood","family":"Bazrgar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2025.149683_b0005","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.biocel.2015.03.011","article-title":"Decoding mechanisms by which silent codon changes influence protein biogenesis and function","volume":"64","author":"Bali","year":"2015","journal-title":"Int. J. Biochem. Cell Biol."},{"issue":"2","key":"10.1016\/j.gene.2025.149683_b0010","first-page":"85","article-title":"Factors leading to primary ovarian insufficiency: a literature overview","volume":"2","author":"Basile","year":"2021","journal-title":"Gynecol. Reprod. Endocrinol. Metab."},{"key":"10.1016\/j.gene.2025.149683_b0015","unstructured":"Berkeley Drosophila Genome Project (BDGP) [Internet], 2023. Available from: https:\/\/www.fruitfly.org\/seq_tools\/splice.html."},{"issue":"12","key":"10.1016\/j.gene.2025.149683_b0020","doi-asserted-by":"crossref","first-page":"4541","DOI":"10.1210\/jc.2016-2152","article-title":"Identification of multiple gene mutations accounts for a new genetic architecture of primary ovarian insufficiency","volume":"101","author":"Bouilly","year":"2016","journal-title":"J. Clin. Endocrinol. Metabol."},{"key":"10.1016\/j.gene.2025.149683_b0025","unstructured":"MobiDetails Database [Internet], 2023. Available from: https:\/\/mobidetails.iurc.montp.inserm.fr\/MD\/api\/variant\/387000\/browser\/."},{"key":"10.1016\/j.gene.2025.149683_b0030","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1016\/j.metabol.2018.01.025","article-title":"Hereditary galactosemia","volume":"83","author":"Demirbas","year":"2018","journal-title":"Metabolism"},{"issue":"7","key":"10.1016\/j.gene.2025.149683_b0035","doi-asserted-by":"crossref","DOI":"10.1210\/jendso\/bvab032","article-title":"Next generation sequencing should be proposed to every woman with \u201cidiopathic\u201d primary ovarian insufficiency","volume":"5","author":"Eskenazi","year":"2021","journal-title":"J. Endocr. Soc."},{"issue":"2","key":"10.1016\/j.gene.2025.149683_b0040","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1530\/EC-21-0013","article-title":"Puberty and fertility in classic galactosemia","volume":"10","author":"Flechtner","year":"2021","journal-title":"Endocr. Connect."},{"key":"10.1016\/j.gene.2025.149683_b0045","unstructured":"Fridovich-Keil, J.L., Gambello, M.J., Singh, R.H., et al., 2020. Duarte variant galactosemia."},{"key":"10.1016\/j.gene.2025.149683_b0050","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1007\/s10545-010-9221-4","article-title":"Ovarian function in girls and women with GALT-deficiency galactosemia","volume":"34","author":"Fridovich-Keil","year":"2011","journal-title":"J. Inherit. Metab. Dis."},{"issue":"4","key":"10.1016\/j.gene.2025.149683_b0055","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1080\/13697137.2019.1574738","article-title":"The global prevalence of primary ovarian insufficiency and early menopause: a meta-analysis","volume":"22","author":"Golezar","year":"2019","journal-title":"Climacteric"},{"key":"10.1016\/j.gene.2025.149683_b0060","article-title":"Recent developments in genetics and medically-assisted reproduction: from research to clinical applications","volume":"3","author":"Harper","year":"2017","journal-title":"Human Reprod. Open."},{"key":"10.1016\/j.gene.2025.149683_b0065","unstructured":"Iranome GALT rs75391579, 2022. Available from: http:\/\/www.iranome.ir\/variant\/9-34648167-A-G."},{"issue":"11","key":"10.1016\/j.gene.2025.149683_b0070","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1016\/j.tem.2018.07.002","article-title":"Molecular genetics of premature ovarian insufficiency","volume":"29","author":"Jiao","year":"2018","journal-title":"Trends Endocrinol. Metab."},{"issue":"8145","key":"10.1016\/j.gene.2025.149683_b0075","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1016\/S0140-6736(79)90658-5","article-title":"Ovarian failure in galactosaemia","volume":"314","author":"Kaufman","year":"1979","journal-title":"Lancet"},{"issue":"2","key":"10.1016\/j.gene.2025.149683_b0080","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/S0022-3476(94)70197-0","article-title":"Correlation of cognitive, neurologic, and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene","volume":"125","author":"Kaufman","year":"1994","journal-title":"J. Pediatr."},{"issue":"2","key":"10.1016\/j.gene.2025.149683_b0085","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1038\/s41591-022-02194-3","article-title":"Landscape of pathogenic mutations in premature ovarian insufficiency","volume":"29","author":"Ke","year":"2023","journal-title":"Nat. Med."},{"issue":"2","key":"10.1016\/j.gene.2025.149683_b0090","first-page":"366","article-title":"Molecular basis for Duarte and Los Angeles variant galactosemia","volume":"60","author":"Langley","year":"1997","journal-title":"Am. J. Hum. Genet."},{"year":"2016","series-title":"Lessons from Genome-Wide Association Studies in Reproductive Medicine. Seminars in Reproductive Medicine","key":"10.1016\/j.gene.2025.149683_b0095"},{"issue":"6","key":"10.1016\/j.gene.2025.149683_b0100","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1093\/humupd\/dmv036","article-title":"Genetics of primary ovarian insufficiency: new developments and opportunities","volume":"21","author":"Qin","year":"2015","journal-title":"Hum. Reprod. Update"},{"issue":"1","key":"10.1016\/j.gene.2025.149683_b0105","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12905-021-01228-1","article-title":"Prevalence of premature ovarian insufficiency and its determinants in Iranian populations: Tehran lipid and glucose study","volume":"21","author":"Rostami Dovom","year":"2021","journal-title":"BMC Womens Health"},{"key":"10.1016\/j.gene.2025.149683_b0110","unstructured":"rs2070075, Highest MAF population [Internet], 2022. Available from: https:\/\/asia.ensembl.org\/Homo_sapiens\/Variation\/Population?db=core;r=9:34647921-34648921;v=rs2070075;vdb=variation;vf=729478168."},{"key":"10.1016\/j.gene.2025.149683_b0115","unstructured":"rs2277202, Highest MAF population [Internet], 2022. Available from: https:\/\/www.ensembl.org\/Homo_sapiens\/Variation\/Population?db=core;r=9:34647523-34648523;v=rs2277202;vdb=variation;vf=729552171."},{"key":"10.1016\/j.gene.2025.149683_b0120","unstructured":"rs41274867, Highest MAF population [Internet], 2022. Available from: https:\/\/asia.ensembl.org\/Homo_sapiens\/Variation\/Population?db=core;r=9:34647591-34648591;v=rs41274867;vdb=variation;vf=733394018."},{"key":"10.1016\/j.gene.2025.149683_b0125","unstructured":"rs75391579 gnomAD allele frequency of XX karyotypes [Internet], 2025. Available from: https:\/\/gnomad.broadinstitute.org\/variant\/9-34648170-A-G?dataset=gnomad_r4."},{"key":"10.1016\/j.gene.2025.149683_b0130","unstructured":"rs75391579 Clinvar GMAF [Internet], 2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/3614\/?oq=rs75391579&m=NM_000155.4(GALT):c.563A%3EG%20(p.Gln188Arg)."},{"key":"10.1016\/j.gene.2025.149683_b0135","unstructured":"rs75391579 highest MAF [Internet], 2025. Available from: https:\/\/www.ensembl.org\/Homo_sapiens\/Variation\/Population?db=core;r=9:34647670-34648670;v=rs75391579;vdb=variation;vf=606647199."},{"issue":"1","key":"10.1016\/j.gene.2025.149683_b0140","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13023-019-1047-z","article-title":"The natural history of classic galactosemia: lessons from the GalNet registry","volume":"14","author":"Rubio-Gozalbo","year":"2019","journal-title":"Orphanet J. Rare Dis."},{"issue":"1","key":"10.1016\/j.gene.2025.149683_b0145","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1016\/j.fertnstert.2008.04.060","article-title":"Biomarkers of ovarian function in girls and women with classic galactosemia","volume":"92","author":"Sanders","year":"2009","journal-title":"Fertil. Steril."},{"key":"10.1016\/j.gene.2025.149683_b0150","article-title":"Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency","volume":"1\u20138","author":"Shekari","year":"2023","journal-title":"Nat. Med."},{"key":"10.1016\/j.gene.2025.149683_b0155","article-title":"An extensive computational approach to analyze and characterize the functional mutations in the galactose-1-phosphate uridyl transferase (GALT) protein responsible for classical galactosemia","volume":"117","author":"Siva","year":"2020","journal-title":"Comput. Biol. Med."},{"issue":"2","key":"10.1016\/j.gene.2025.149683_b0160","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1007\/s004390100552","article-title":"Large-scale molecular screening for galactosemia alleles in a pan-ethnic population","volume":"109","author":"Suzuki","year":"2001","journal-title":"Hum. Genet."},{"issue":"5","key":"10.1016\/j.gene.2025.149683_b0165","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1093\/humrep\/dew027","article-title":"ESHRE Guideline: management of women with premature ovarian insufficiency","volume":"31","author":"The ESHRE Guideline Group on POI","year":"2016","journal-title":"Hum. Reprod."},{"issue":"1","key":"10.1016\/j.gene.2025.149683_b0170","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1016\/j.fertnstert.2017.05.013","article-title":"Fertility in adult women with classic galactosemia and primary ovarian insufficiency","volume":"108","author":"van Erven","year":"2017","journal-title":"Fertil. Steril."},{"issue":"2","key":"10.1016\/j.gene.2025.149683_b0175","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.gene.2015.01.013","article-title":"Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene","volume":"559","author":"Viggiano","year":"2015","journal-title":"Gene"}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S037811192500472X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S037811192500472X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T17:15:36Z","timestamp":1759857336000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S037811192500472X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":35,"alternative-id":["S037811192500472X"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2025.149683","relation":{},"ISSN":["0378-1119"],"issn-type":[{"type":"print","value":"0378-1119"}],"subject":[],"published":{"date-parts":[[2025,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Association of the Rs2070075 GALT gene variant with Iranian primary ovarian insufficiency patients","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2025.149683","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"149683"}}