Associated Papers
Multi-omics analyses of MEN1 missense mutations identify disruption of menin-MLL and menin-JunD interactions as critical requirements for molecular pathogenicity.
Dreijerink KMA et al.
Epigenetics & Chromatin, 2022
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.
Cardoso L et al.
Human Mutation, 2017
Menin missense mutants encoded by the MEN1 gene that are targeted to the proteasome: restoration of expression and activity by CHIP siRNA.
Canaff L et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Correlation of mutant menin stability with clinical expression of multiple endocrine neoplasia type 1 and its incomplete forms.
Shimazu S et al.
Cancer Science, 2011
Genetic background influences embryonic lethality and the occurrence of neural tube defects in Men1 null mice: relevance to genetic modifiers.
Lemos MC et al.
The Journal of Endocrinology, 2009
Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism.
Pannett AA et al.
Clinical Endocrinology, 2003
Genetic screening for MEN1 mutations in families presenting with familial primary hyperparathyroidism.
Perrier ND et al.
World Journal of Surgery, 2002
Molecular and genetic mechanisms of tumorigenesis in multiple endocrine neoplasia type-1.
Guo SS et al.
Molecular Endocrinology (baltimore, Md.), 2001
Familial isolated primary hyperparathyroidism--a multiple endocrine neoplasia type 1 variant?
Miedlich S et al.
European Journal of Endocrinology, 2001
The MEN1 gene and associated diseases: an update.
Tsukada T et al.
Endocrine Pathology, 2001
A novel mutation of the MEN1 gene in a Japanese kindred with familial isolated primary hyperparathyroidism.
Honda M et al.
European Journal of Endocrinology, 2000
Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a large Danish pedigree.
Kassem M et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
Multiple endocrine neoplasia type 1.
Pannett AA et al.
Endocrine-related Cancer, 1999
A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors.
Teh BT et al.
American Journal of Human Genetics, 1998