1. Incecik, Faruk, Bisgin, Atil, Yılmaz, Mustafa. 2018. MEDNIK syndrome with a frame shift causing mutation in AP1S1 gene and literature review of the clinical features. In Metabolic brain disease, 33, 2065-2068. doi:10.1007/s11011-018-0313-4. https://pubmed.ncbi.nlm.nih.gov/30244301/
2. Zheng, Danni, Fu, Weida, Jin, Lingli, Guan, Yaoyao, Hao, Rutian. 2022. The Overexpression and Clinical Significance of AP1S1 in Breast Cancer. In Cancer management and research, 14, 1475-1492. doi:10.2147/CMAR.S346519. https://pubmed.ncbi.nlm.nih.gov/35463798/
3. Rackova, Marketa, Mattera, Rafael, Svaton, Michael, Bonifacino, Juan S, Skvarova Kramarzova, Karolina. 2024. Revising pathogenesis of AP1S1-related MEDNIK syndrome: a missense variant in the AP1S1 gene as a causal genetic lesion. In Journal of molecular medicine (Berlin, Germany), 102, 1343-1353. doi:10.1007/s00109-024-02482-0. https://pubmed.ncbi.nlm.nih.gov/39269494/
4. Martinelli, Diego, Dionisi-Vici, Carlo. 2014. AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism. In Annals of the New York Academy of Sciences, 1314, 55-63. doi:10.1111/nyas.12426. https://pubmed.ncbi.nlm.nih.gov/24754424/
5. Montpetit, Alexandre, Côté, Stéphanie, Brustein, Edna, Drapeau, Pierre, Cossette, Patrick. 2008. Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord. In PLoS genetics, 4, e1000296. doi:10.1371/journal.pgen.1000296. https://pubmed.ncbi.nlm.nih.gov/19057675/
6. Klee, Katharina M C, Janecke, Andreas R, Civan, Hasret A, Müller, Thomas, Vogel, Georg F. 2020. AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect. In Human genetics, 139, 1247-1259. doi:10.1007/s00439-020-02168-w. https://pubmed.ncbi.nlm.nih.gov/32306098/
7. Lu, Jiajie G, Namjoshi, Shweta S, Niehaus, Annie D, Martin, Martin G, Hazard, Florette K. 2023. Clinicopathologic Features of IDEDNIK (MEDNIK) Syndrome in a Term Infant: Histopathologic Features of the Gastrointestinal Tract and Report of a Novel AP1S1 Variant. In Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 26, 406-410. doi:10.1177/10935266231177402. https://pubmed.ncbi.nlm.nih.gov/37278357/
8. Alshabi, Ali Mohamed, Vastrad, Basavaraj, Shaikh, Ibrahim Ahmed, Vastrad, Chanabasayya. 2019. Identification of Crucial Candidate Genes and Pathways in Glioblastoma Multiform by Bioinformatics Analysis. In Biomolecules, 9, . doi:10.3390/biom9050201. https://pubmed.ncbi.nlm.nih.gov/31137733/