1. Gollmann-Tepeköylü, Can, Graber, Michael, Hirsch, Jakob, Tancevski, Ivan, Holfeld, Johannes. 2023. Toll-Like Receptor 3 Mediates Aortic Stenosis Through a Conserved Mechanism of Calcification. In Circulation, 147, 1518-1533. doi:10.1161/CIRCULATIONAHA.122.063481. https://pubmed.ncbi.nlm.nih.gov/37013819/
2. Guo, Long, Elcioglu, Nursel H, Iida, Aritoshi, Miyake, Noriko, Ikegawa, Shiro. 2016. Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2. In Journal of human genetics, 62, 447-451. doi:10.1038/jhg.2016.143. https://pubmed.ncbi.nlm.nih.gov/27881841/
3. Al-Jezawi, Nesreen K, Ali, Bassam R, Al-Gazali, Lihadh. 2017. Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II. In American journal of medical genetics. Part A, 173, 1773-1781. doi:10.1002/ajmg.a.38244. https://pubmed.ncbi.nlm.nih.gov/28462984/
4. Ly, Thanh-Diep, Riedel, Lara, Fischer, Bastian, Knabbe, Cornelius, Faust, Isabel. 2020. microRNA-145 mediates xylosyltransferase-I induction in myofibroblasts via suppression of transcription factor KLF4. In Biochemical and biophysical research communications, 523, 1001-1006. doi:10.1016/j.bbrc.2019.12.120. https://pubmed.ncbi.nlm.nih.gov/31973816/
5. Mis, Emily K, Liem, Karel F, Kong, Yong, Domowicz, Miriam, Weatherbee, Scott D. 2013. Forward genetics defines Xylt1 as a key, conserved regulator of early chondrocyte maturation and skeletal length. In Developmental biology, 385, 67-82. doi:10.1016/j.ydbio.2013.10.014. https://pubmed.ncbi.nlm.nih.gov/24161523/
6. LaCroix, Amy J, Stabley, Deborah, Sahraoui, Rebecca, Mefford, Heather C, Sol-Church, Katia. 2018. GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. In American journal of human genetics, 104, 35-44. doi:10.1016/j.ajhg.2018.11.005. https://pubmed.ncbi.nlm.nih.gov/30554721/