Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.R415*
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MEN1

NM_001370259.2:p.R415*

Associated Papers

48-Year clinical experience and genetic analysis of pediatric primary hyperparathyroidism from a single center in China.

Chen Y et al.

Journal of Endocrinological Investigation, 2025

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM2_ESM.pdf

Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis.

Kim B et al.

Endocrinology and Metabolism (seoul, Korea), 2024

39552147 (PubMed )
Supplement: enm-2024-2008-Supplemental-Table-S1.pdf

Tuberous sclerosis complex mutations in patients with pancreatic neuroendocrine tumors. Observations on phenotypic and treatment-related associations.

Navale P et al.

Virchows Archiv : an International Journal of Pathology, 2023

Expressions of Cushing's syndrome in multiple endocrine neoplasia type 1.

Simonds WF

Frontiers in Endocrinology, 2023

Clinical aspects of multiple endocrine neoplasia type 1.

Al-Salameh A et al.

Nature Reviews. Endocrinology, 2021

[Multiple Endocrine Neoplasia].

Uchino S et al.

Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2019

Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing.

Carvalho RA et al.

European Journal of Endocrinology, 2018

Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database.

Marini F et al.

Endocrine, 2018

Children with MEN1 gene mutations may present first (and at a young age) with Cushing disease.

Makri A et al.

Clinical Endocrinology, 2018

Uncovering the heterogeneous genetic variations in two insulin-expressing tumors in a patient with MEN1.

Wang Z et al.

Oncology Letters, 2018

Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumor syndrome.

Mamedova E et al.

Endocrine Connections, 2017

Novel association of MEN1 gene mutations with parathyroid carcinoma.

Cinque L et al.

Oncology Letters, 2017

Foxa2, a novel protein partner of the tumour suppressor menin, is deregulated in mouse and human MEN1 glucagonomas.

Bonnavion R et al.

The Journal of Pathology, 2017

Genetics of multiple endocrine neoplasia type 1 syndrome: what's new and what's old.

Falchetti A

F1000research, 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

Gene mutations in Cushing's disease.

Xiong Q et al.

Biomedical Reports, 2016

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

Genetic and epigenetic analysis in korean patients with multiple endocrine neoplasia type 1.

Chung YJ et al.

Endocrinology and Metabolism (seoul, Korea), 2014

p.Ala541Thr variant of MEN1 gene: a non deleterious polymorphism or a pathogenic mutation?

Nozières C et al.

Annales D'endocrinologie, 2014

Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4).

Thakker RV

Molecular and Cellular Endocrinology, 2014

MEN1 gene analysis in patients with primary hyperparathyroidism: 10-year experience of a single institution for thyroid and parathyroid care in Japan.

Kihara M et al.

Endocrine Journal, 2009

Deregulation of anti-Mullerian hormone/BMP and transforming growth factor-beta pathways in Leydig cell lesions developed in male heterozygous multiple endocrine neoplasia type 1 mutant mice.

Hussein N et al.

Endocrine-related Cancer, 2008

Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene.

Lemos MC et al.

Human Mutation, 2008

Reconstituted expression of menin in Men1-deficient mouse Leydig tumour cells induces cell cycle arrest and apoptosis.

Hussein N et al.

European Journal of Cancer (oxford, England : 1990), 2007

Thymic carcinoid in multiple endocrine neoplasia 1: genotype-phenotype correlation and prevention.

Lim LC et al.

Journal of Internal Medicine, 2006

Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing.

Ellard S et al.

Clinical Endocrinology, 2005

Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory.

Klein RD et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2005

Multiple endocrine neoplasia type 1 (MEN1): genetic and clinical analysis in the Southern Chinese.

Tso AW et al.

Clinical Endocrinology, 2003

Functional studies of the MEN1 gene.

Chandrasekharappa SC et al.

Journal of Internal Medicine, 2003

Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis.

Crépin M et al.

Electrophoresis, 2003

Deletion of chromosome 1, but not mutation of MEN-1, predicts prognosis in sporadic pancreatic endocrine tumors.

Guo SS et al.

World Journal of Surgery, 2002

[Genetics of neuroendocrine tumors].

Calender A

La Revue Du Praticien, 2002

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

Tumor suppressor loss in pituitary tumors.

Alexander JM

Brain Pathology (zurich, Switzerland), 2001

10 Swiss kindreds with multiple endocrine neoplasia type 1: assessment of screening methods.

Clerici T et al.

Swiss Medical Weekly, 2001

The MEN1 gene and associated diseases: an update.

Tsukada T et al.

Endocrine Pathology, 2001

Frequency of somatic MEN1 gene mutations in monoclonal parathyroid tumours of patients with primary hyperparathyroidism.

Miedlich S et al.

European Journal of Endocrinology, 2000

Criteria for mutation analysis in MEN 1-suspected patients: MEN 1 case-finding.

Roijers JF et al.

European Journal of Clinical Investigation, 2000

Expression analysis of endogenous menin, the product of the multiple endocrine neoplasia type 1 gene, in cell lines and human tissues.

Wautot V et al.

International Journal of Cancer, 2000

MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1.

Morelli A et al.

European Journal of Endocrinology, 2000

Molecular genetics of neuroendocrine tumors.

Calender A

Digestion, 2000

Multiple endocrine neoplasia type 1.

Pannett AA et al.

Endocrine-related Cancer, 1999

Multiple endocrine neoplasia type 1: clinical and genetic topics.

Marx S et al.

Annals of Internal Medicine, 1998

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

Analysis of recurrent germline mutations in the MEN1 gene encountered in apparently unrelated families.

Agarwal SK et al.

Human Mutation, 1998

A large multiple endocrine neoplasia type 1 family with clinical expression suggestive of anticipation.

Giraud S et al.

The Journal of Clinical Endocrinology and Metabolism, 1997

Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1.

Lemmens I et al.

Human Molecular Genetics, 1997

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