{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSOX3 is one of the earliest expressed neural transcription factors, playing a pivotal role in central nervous system and pituitary development. Its tightly controlled expression relies on a promoter that is hypomethylated and marked with distinctive histone modifications during retinoic acid–induced neuronal differentiation. SOX3 activity is finely tuned via interactions with several transcriptional co‐factors—such as NF‐Y, PBX1, MEIS1, TGIF, and nuclear receptors like RXRα—and is subject to post‐translational modifications (for example, SUMOylation) that can repress its transcriptional output. In several studies, even modest changes in SOX3 dosage (including polyalanine expansions and copy number variations) have been linked to disrupted transcriptional pathways underlying cognitive function and pituitary hormone regulation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "10"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its canonical role in neurodevelopment, SOX3 contributes to sex determination. Ectopic expression studies in transgenic mice have demonstrated that misexpression of SOX3 in the bipotential gonad can induce testis formation in XX individuals by upregulating SOX9—a key driver of male differentiation. Moreover, genomic rearrangements and copy‐number gains involving SOX3 have been identified in SRY‐negative individuals with disorders of sex development, suggesting that SOX3 can substitute for SRY function during gonadal development."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "11", "end_ref": "14"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAberrant regulation of SOX3 is increasingly recognized in oncogenesis and a variety of congenital disorders. In tumors such as osteosarcoma, esophageal, endometrial, ovarian, and glioblastoma, elevated SOX3 levels have been linked to enhanced cellular proliferation, migration, invasion, and epithelial–mesenchymal transition through transcriptional activation of genes including matrix metalloproteinases. In parallel, structural and point mutations affecting the SOX3 locus—including duplications, misexpression and polyalanine expansions—have been associated with congenital hypopituitarism, intellectual disability, neural tube defects, craniofacial anomalies, limb malformations, and even cardiac malformations such as tetralogy of Fallot. Disruptions in SOX3 function may perturb β‐catenin signaling and allied developmental pathways, thereby underscoring its dosage‐sensitive role in both normal development and disease."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "15", "end_ref": "34"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Frédéric Laumonnier, Nathalie Ronce, Ben C J Hamel, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/344661"}], "href": "https://doi.org/10.1086/344661"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12428212"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12428212"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Jean Savare, Nathalie Bonneaud, Franck Girard "}, {"type": "b", "children": [{"type": "t", "text": "SUMO represses transcriptional activity of the Drosophila SoxNeuro and human Sox3 central nervous system-specific transcription factors."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Cell (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1091/mbc.e04-12-1062"}], "href": "https://doi.org/10.1091/mbc.e04-12-1062"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15788563"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15788563"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Kathryn S Woods, Maria Cundall, James Turton, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/430134"}], "href": "https://doi.org/10.1086/430134"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15800844"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15800844"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Marija Mojsin, Natasa Kovacević Grujicić, Gordana Nikcević, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mapping of the RXRalpha binding elements involved in retinoic acid induced transcriptional activation of the human SOX3 gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurosci Res (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neures.2006.08.010"}], "href": "https://doi.org/10.1016/j.neures.2006.08.010"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17005281"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17005281"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Daniel Kelberman, Mehul Tulsidas Dattani "}, {"type": "b", "children": [{"type": "t", "text": "Genetics of septo-optic dysplasia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pituitary (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s11102-007-0055-5"}], "href": "https://doi.org/10.1007/s11102-007-0055-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17587179"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17587179"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Aleksandar Krstic, Marija Mojsin, Milena Stevanovic "}, {"type": "b", "children": [{"type": "t", "text": "Regulation of SOX3 gene expression is driven by multiple NF-Y binding elements."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Arch Biochem Biophys (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.abb.2007.08.029"}], "href": "https://doi.org/10.1016/j.abb.2007.08.029"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17910945"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17910945"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Marija Mojsin, Milena Stevanovic "}, {"type": "b", "children": [{"type": "t", "text": "PBX1 and MEIS1 up-regulate SOX3 gene expression by direct interaction with a consensus binding site within the basal promoter region."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem J (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1042/BJ20090694"}], "href": "https://doi.org/10.1042/BJ20090694"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19799567"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19799567"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Marija Mojsin, Jelena Popovic, Natasa Kovacevic Grujicic, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TG-interacting factor (TGIF) downregulates SOX3 gene expression in the NT2/D1 cell line."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Genet Genomics (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jgg.2011.11.006"}], "href": "https://doi.org/10.1016/j.jgg.2011.11.006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22293114"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22293114"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "K S Alatzoglou, A Azriyanti, N Rogers, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SOX3 deletion in mouse and human is associated with persistence of the craniopharyngeal canal."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Endocrinol Metab (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1210/jc.2014-1160"}], "href": "https://doi.org/10.1210/jc.2014-1160"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25140394"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25140394"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Vladanka Topalovic, Aleksandar Krstic, Marija Schwirtlich, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Epigenetic regulation of human SOX3 gene expression during early phases of neural differentiation of NT2/D1 cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0184099"}], "href": "https://doi.org/10.1371/journal.pone.0184099"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28886103"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28886103"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Youichi Sato, Toshikatsu Shinka, Kozue Sakamoto, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The male-determining gene SRY is a hybrid of DGCR8 and SOX3, and is regulated by the transcription factor CP2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biochem (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s11010-009-0308-x"}], "href": "https://doi.org/10.1007/s11010-009-0308-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19902333"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19902333"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Edwina Sutton, James Hughes, Stefan White, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of SOX3 as an XX male sex reversal gene in mice and humans."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI42580"}], "href": "https://doi.org/10.1172/JCI42580"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21183788"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21183788"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Annalisa Vetro, Mohammad Reza Dehghani, Lilia Kraoua, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Hum Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ejhg.2014.237"}], "href": "https://doi.org/10.1038/ejhg.2014.237"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25351776"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25351776"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Maki Igarashi, Hitoshi Mikami, Momori Katsumi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sex Dev (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1159/000377653"}], "href": "https://doi.org/10.1159/000377653"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25791725"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25791725"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Jacqueline Wong, Peter Farlie, Sebastien Holbert, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Polyalanine expansion mutations in the X-linked hypopituitarism gene SOX3 result in aggresome formation and impaired transactivation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Front Biosci (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2741/2213"}], "href": "https://doi.org/10.2741/2213"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17127446"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17127446"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Michele Salemi, Corrado Romano, Letizia Ragusa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A new 6-bp SOX-3 polyalanine tract deletion does not segregate with mental retardation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Test (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1089/gte.2006.0510"}], "href": "https://doi.org/10.1089/gte.2006.0510"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17627381"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17627381"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Kun Li, Ru-Wen Wang, Yao-Guang Jiang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Overexpression of Sox3 is associated with diminished prognosis in esophageal squamous cell carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Surg Oncol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1245/s10434-012-2792-6"}], "href": "https://doi.org/10.1245/s10434-012-2792-6"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23238694"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23238694"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "Masaki Takagi, Tomohiro Ishii, Chiharu Torii, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pituitary (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s11102-013-0546-5"}], "href": "https://doi.org/10.1007/s11102-013-0546-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24346842"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24346842"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "Elizabeth T Rosolowsky, Robert Stein, Seth D Marks, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Marked phenotypic variable expression among brothers with duplication of Xq27.1 involving the SOX3 gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Pediatr Endocrinol Metab (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1515/jpem-2015-0131"}], "href": "https://doi.org/10.1515/jpem-2015-0131"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26352083"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26352083"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "Qin Yan, Fangyuan Wang, Yi Miao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Sex-determining region Y-box3 (SOX3) functions as an oncogene in promoting epithelial ovarian cancer by targeting Src kinase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Tumour Biol (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s13277-016-5095-x"}], "href": "https://doi.org/10.1007/s13277-016-5095-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27251670"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27251670"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "Y Jourdy, N Chatron, M-L Carage, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Study of six patients with complete F9 deletion characterized by cytogenetic microarray: role of the SOX3 gene in intellectual disability."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Thromb Haemost (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/jth.13430"}], "href": "https://doi.org/10.1111/jth.13430"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27477789"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27477789"}]}, {"type": "r", "ref": 22, "children": [{"type": "t", "text": "Manle Qiu, Daoyun Chen, Chaoyong Shen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Sex-determining region Y-box protein 3 induces epithelial-mesenchymal transition in osteosarcoma cells via transcriptional activation of Snail1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Exp Clin Cancer Res (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s13046-017-0515-3"}], "href": "https://doi.org/10.1186/s13046-017-0515-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28335789"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28335789"}]}, {"type": "r", "ref": 23, "children": [{"type": "t", "text": "Baolan Gong, Yan Yue, Renxiao Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Overexpression of microRNA-194 suppresses the epithelial-mesenchymal transition in targeting stem cell transcription factor Sox3 in endometrial carcinoma stem cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Tumour Biol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1177/1010428317706217"}], "href": "https://doi.org/10.1177/1010428317706217"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28618953"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28618953"}]}, {"type": "r", "ref": 24, "children": [{"type": "t", "text": "Anne M Jelsig, Birgitte R Diness, Sven Kreiborg, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A complex phenotype in a family with a pathogenic SOX3 missense variant."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Med Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ejmg.2017.11.012"}], "href": "https://doi.org/10.1016/j.ejmg.2017.11.012"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29175558"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29175558"}]}, {"type": "r", "ref": 25, "children": [{"type": "t", "text": "Yanjie Guo, Jimin Yin, Mingjie Tang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Downregulation of SOX3 leads to the inhibition of the proliferation, migration and invasion of osteosarcoma cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Oncol (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/ijo.2018.4278"}], "href": "https://doi.org/10.3892/ijo.2018.4278"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29484385"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29484385"}]}, {"type": "r", "ref": 26, "children": [{"type": "t", "text": "Jelena Marjanovic Vicentic, Danijela Drakulic, Idoia Garcia, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SOX3 can promote the malignant behavior of glioblastoma cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Oncol (Dordr) (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s13402-018-0405-5"}], "href": "https://doi.org/10.1007/s13402-018-0405-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30209685"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30209685"}]}, {"type": "r", "ref": 27, "children": [{"type": "t", "text": "Marguerite Hureaux, Selima Ben Miled, Nicolas Chatron, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Prenat Diagn (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/pd.5523"}], "href": "https://doi.org/10.1002/pd.5523"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31299102"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31299102"}]}, {"type": "r", "ref": 28, "children": [{"type": "t", "text": "Ved Bhushan Arya, Garima Chawla, Aparna K R Nambisan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Xq27.1 Duplication Encompassing SOX3: Variable Phenotype and Smallest Duplication Associated with Hypopituitarism to Date - A Large Case Series of Unrelated Patients and a Literature Review."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Horm Res Paediatr (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1159/000503784"}], "href": "https://doi.org/10.1159/000503784"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31678974"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31678974"}]}, {"type": "r", "ref": 29, "children": [{"type": "t", "text": "Jiajia Shen, Jing Zhai, Xinqian Wu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Serum proteome profiling reveals SOX3 as a candidate prognostic marker for gastric cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Mol Med (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/jcmm.15326"}], "href": "https://doi.org/10.1111/jcmm.15326"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32363730"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32363730"}]}, {"type": "r", "ref": 30, "children": [{"type": "t", "text": "Kameryn M Butler, Timothy Fee, Barbara R DuPont, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A SOX3 duplication and lumbosacral spina bifida in three generations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.62668"}], "href": "https://doi.org/10.1002/ajmg.a.62668"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35098650"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35098650"}]}, {"type": "r", "ref": 31, "children": [{"type": "t", "text": "Lei Yuan, Pengqi Zhang, Youming Lu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "LINC00662 Promotes Proliferation and Invasion and Inhibits Apoptosis of Glioma Cells Through miR-483-3p/SOX3 Axis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Appl Biochem Biotechnol (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s12010-022-03855-2"}], "href": "https://doi.org/10.1007/s12010-022-03855-2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35275355"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35275355"}]}, {"type": "r", "ref": 32, "children": [{"type": "t", "text": "Felipe Henrique de Souza Silva, Adam Underwood, Camila Pereira Almeida, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Transcription factor SOX3 upregulated pro-apoptotic genes expression in human breast cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Med Oncol (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s12032-022-01758-0"}], "href": "https://doi.org/10.1007/s12032-022-01758-0"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36175695"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36175695"}]}, {"type": "r", "ref": 33, "children": [{"type": "t", "text": "Elke de Boer, Carlo Marcelis, Kornelia Neveling, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A complex structural variant near "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "SOX3"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " causes X-linked split-hand/foot malformation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "HGG Adv (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.xhgg.2023.100200"}], "href": "https://doi.org/10.1016/j.xhgg.2023.100200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37216008"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37216008"}]}, {"type": "r", "ref": 34, "children": [{"type": "t", "text": "Rui Guo, Yiran Zhou Guo, Qing Zhou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ROR2 deficit may induce the tetralogy of Fallot via down-regulating of β-catenin/SOX3/HSPA6 in vitro and in vivo."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Mol Med (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/jcmm.17969"}], "href": "https://doi.org/10.1111/jcmm.17969"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37749917"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37749917"}]}]}]}