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Page 1
Xylosyltransferase 2 deficiency and organ homeostasis.
Ferencz B, Condac E, Poudel N, Munteanu MC, Sivasami P, Choudhury B, Naidu NN, Zhang F, Breshears M, Linhardt RJ, Hinsdale ME. Ferencz B, et al. Among authors: hinsdale me. Glycoconj J. 2020 Dec;37(6):755-765. doi: 10.1007/s10719-020-09945-9. Epub 2020 Sep 23. Glycoconj J. 2020. PMID: 32965647 Free PMC article.
Adipose tissue loss and lipodystrophy in xylosyltransferase II deficient mice.
Sivasami P, Poudel N, Munteanu MC, Hudson J, Lovern P, Liu L, Griffin T, Hinsdale ME. Sivasami P, et al. Among authors: hinsdale me. Int J Obes (Lond). 2019 Sep;43(9):1783-1794. doi: 10.1038/s41366-019-0324-1. Epub 2019 Feb 18. Int J Obes (Lond). 2019. PMID: 30778123 Free PMC article.
Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.
Munns CF, Fahiminiya S, Poudel N, Munteanu MC, Majewski J, Sillence DO, Metcalf JP, Biggin A, Glorieux F, Fassier F, Rauch F, Hinsdale ME. Munns CF, et al. Among authors: hinsdale me. Am J Hum Genet. 2015 Jun 4;96(6):971-8. doi: 10.1016/j.ajhg.2015.04.017. Epub 2015 May 28. Am J Hum Genet. 2015. PMID: 26027496 Free PMC article.
29 results