Associated Papers
Hsp70 incompletely disaggregates misfolded K488X-menin to promote tumourigenesis in a family with multiple endocrine neoplasia type 1.
Zeng Z et al.
Cellular Signalling, 2025
Cost-effectiveness of Genetic Testing of Endocrine Tumor Patients Using a Comprehensive Hereditary Cancer Gene Panel.
Patócs A et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
Molecular Pathophysiology of Parathyroid Tumorigenesis-The Lesson from a Rare Disease: The "MEN1 Model".
Brunetti A et al.
International Journal of Molecular Sciences, 2024
Germline Testing Identifies Pathogenic/Likely Pathogenic Variants in Patients with Pancreatic Neuroendocrine Tumors.
Mohindroo C et al.
Cancer Prevention Research (philadelphia, Pa.), 2024
Multiple Endocrine Neoplasia Type 1 Regulates TGFβ-Mediated Suppression of Tumor Formation and Metastasis in Melanoma.
Boudreault J et al.
Cells, 2024
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
[Casuistic cases of parathyroid carcinoma with a verified mutation in the MEN1 gene].
Pylina SV et al.
Problemy Endokrinologii, 2023
Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms.
Lagarde A et al.
Endocrine Connections, 2022
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
Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.
Savatt JM et al.
Bmc Medicine, 2022
A Novel Isogenic Human Cell-Based System for MEN1 Syndrome Generated by CRISPR/Cas9 Genome Editing.
Klementieva N et al.
International Journal of Molecular Sciences, 2021
Clinical aspects of multiple endocrine neoplasia type 1.
Al-Salameh A et al.
Nature Reviews. Endocrinology, 2021
Yes-Associated Protein 1 Is a Novel Calcium Sensing Receptor Target in Human Parathyroid Tumors.
Tavanti GS et al.
International Journal of Molecular Sciences, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Comprehensive Analysis of MEN1 Mutations and Their Role in Cancer.
Nelakurti DD et al.
Cancers, 2020
A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1.
Corsello A et al.
Molecular Biology Reports, 2020
Prevalence of Parathyroid Carcinoma and Atypical Parathyroid Neoplasms in 153 Patients With Multiple Endocrine Neoplasia Type 1: Case Series and Literature Review.
Song A et al.
Frontiers in Endocrinology, 2020
UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population.
Romanet P et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Novel Mutations in Serbian MEN1 Patients: Genotype-phenotype Correlation.
Isailovic T et al.
Journal of Medical Biochemistry, 2019
Parathyroid carcinoma in multiple endocrine neoplasm type 1 syndrome: case report and systematic literature review.
Di Meo G et al.
Clinical and Experimental Medicine, 2018
Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database.
Marini F et al.
Endocrine, 2018
Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumor syndrome.
Mamedova E et al.
Endocrine Connections, 2017
MEN1 gene mutation with parathyroid carcinoma: first report of a familial case.
Cinque L et al.
Endocrine Connections, 2017
Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features.
Pardi E et al.
Plos One, 2017
Cinacalcet therapy in patients affected by primary hyperparathyroidism associated to Multiple Endocrine Neoplasia Syndrome type 1 (MEN1).
Giusti F et al.
Endocrine, 2016
[TYPE 1 MULTIPLE ENDOCRINE NEOPLASIA SYNDROME AND FAMILIAL ISOLATED HYPERPARATHYROIDISM].
Mamedova EO et al.
Klinicheskaia Meditsina, 2015
Metabolic expressivity of human genetic variants: NMR metabotyping of MEN1 pathogenic mutants.
Blaise BJ et al.
Journal of Pharmaceutical and Biomedical Analysis, 2014
Menin mediates epigenetic regulation via histone H3 lysine 9 methylation.
Yang YJ et al.
Cell Death & Disease, 2013
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
Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype phenotype correlation.
Vierimaa O et al.
European Journal of Endocrinology, 2007
Tumor suppressor menin regulates expression of insulin-like growth factor binding protein 2.
La P et al.
Endocrinology, 2004
Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis.
Crépin M et al.
Electrophoresis, 2003
Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study.
Vergès B et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Molecular and genetic mechanisms of tumorigenesis in multiple endocrine neoplasia type-1.
Guo SS et al.
Molecular Endocrinology (baltimore, Md.), 2001
The MEN1 gene and associated diseases: an update.
Tsukada T et al.
Endocrine Pathology, 2001
Loss of heterozygosity in sporadic parathyroid tumours: involvement of chromosome 1 and the MEN1 gene locus in 11q13.
Dwight T et al.
Clinical Endocrinology, 2000
Genetic disorders of calcium and phosphorus metabolism.
Root AW
Critical Reviews in Clinical Laboratory Sciences, 2000
Multiple endocrine neoplasia type 1.
Pannett AA et al.
Endocrine-related Cancer, 1999
Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders.
Giraud S et al.
American Journal of Human Genetics, 1998
Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism.
Teh BT et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Germline and somatic mutation of the gene for multiple endocrine neoplasia type 1 (MEN1).
Marx SJ et al.
Journal of Internal Medicine, 1998
Characterization of mutations in patients with multiple endocrine neoplasia type 1.
Bassett JH et al.
American Journal of Human Genetics, 1998
Somatic mutation of the MEN1 gene in parathyroid tumours.
Heppner C et al.
Nature Genetics, 1997