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Mutations in proteasome-related genes are associated with thyroid hemiagenesis.
Budny B, Szczepanek-Parulska E, Zemojtel T, Szaflarski W, Rydzanicz M, Wesoly J, Handschuh L, Wolinski K, Piatek K, Niedziela M, Ziemnicka K, Figlerowicz M, Zabel M, Ruchala M. Budny B, et al. Among authors: zabel m. Endocrine. 2017 May;56(2):279-285. doi: 10.1007/s12020-017-1287-4. Epub 2017 Apr 7. Endocrine. 2017. PMID: 28390009 Free PMC article.
Alternative 3' acceptor site in the exon 2 of human PAX8 gene resulting in the expression of unknown mRNA variant found in thyroid hemiagenesis and some types of cancers.
Szczepanek-Parulska E, Szaflarski W, Piątek K, Budny B, Jaszczyńska-Nowinka K, Biczysko M, Wierzbicki T, Skrobisz J, Zabel M, Ruchała M. Szczepanek-Parulska E, et al. Among authors: zabel m. Acta Biochim Pol. 2013;60(4):573-8. Epub 2013 Dec 16. Acta Biochim Pol. 2013. PMID: 24340305
764 results