Application of an intracellular stability test of a novel missense menin mutant to the diagnosis of multiple endocrine neoplasia type 1.

@article{Nagamura2012ApplicationOA,
  title={Application of an intracellular stability test of a novel missense menin mutant to the diagnosis of multiple endocrine neoplasia type 1.},
  author={Yuko Nagamura and Masanori Yamazaki and Satoko Shimazu and Toshihiko Tsukada and Akihiro Sakurai},
  journal={Endocrine journal},
  year={2012},
  volume={59 12},
  pages={
          1093-8
        }
}
  • Yuko Nagamura, Masanori Yamazaki, +2 authors Akihiro Sakurai
  • Published in Endocrine journal 2012
  • Biology, Medicine
  • Germline MEN1 mutation analysis is a powerful tool for an early diagnosis of multiple endocrine neoplasia type 1 (MEN1), an autosomal dominant familial cancer syndrome characterized by the parathyroid, pituitary and gastroenteropancreatic endocrine tumors. However, the clinical significance of MEN1 gene variants, especially missense and in-frame mutations as well as some splicing mutations, is not always obvious. We have previously shown that mutant menin proteins associated with MEN1 are… CONTINUE READING

    Create an AI-powered research feed to stay up to date with new papers like this posted to ArXiv

    References

    Publications referenced by this paper.
    SHOWING 1-10 OF 19 REFERENCES

    A novel missense mutation in the MEN1 gene in a patient with multiple endocrine neoplasia type 1.

    VIEW 1 EXCERPT

    Crystal structure of menin reveals binding site for mixed lineage leukemia ( MLL ) protein

    • CM MuraiMJ, G Reddy, J Grembecka, T Cierpicki
    • J Biol Chem
    • 2011

    Menin dynamics and functional insight: Take your partners

    VIEW 1 EXCERPT

    Cellular functions of menin.

    VIEW 1 EXCERPT

    Sporadic and MEN1-related primary hyperparathyroidism: differences in clinical expression and severity.