Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.R460*
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MEN1

NM_001370259.2:p.R460*

Associated Papers

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

Molecular and Clinical Spectrum of Primary Hyperparathyroidism.

Jha S et al.

Endocrine Reviews, 2023

The Mutational, Prognostic, and Therapeutic Landscape of Neuroendocrine Neoplasms.

Liu M et al.

The Oncologist, 2023

37086484 (PubMed )
Supplement: oyad093_suppl_supplementary_table_1.xlsx › Genetic_Variations

[Casuistic cases of parathyroid carcinoma with a verified mutation in the MEN1 gene].

Pylina SV et al.

Problemy Endokrinologii, 2023

Gene Mutations in Cushing's Syndrome.

Ojha U et al.

Molecular Syndromology, 2023

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

Simonds WF

Frontiers in Endocrinology, 2023

Thymic Carcinoid in a Patient with Concurrent Manifestations of Multiple Endocrine Neoplasia Type 1.

Zhu J et al.

Case Reports in Endocrinology, 2023

Approach of Multiple Endocrine Neoplasia Type 1 (MEN1) Syndrome-Related Skin Tumors.

Băicoianu-Nițescu LC et al.

Diagnostics (basel, Switzerland), 2022

Management and Long-Term Follow-Up of Hyperparathyroidism in Multiple Endocrine Neoplasia Type 1: Single Center Experience.

Yavropoulou MP et al.

Journal of Clinical Medicine, 2022

A MEN1 Patient Presenting With Multiple Parathyroid Adenomas and Transient Hypercortisolism: A Case Report and Literature Review.

Chen F et al.

Frontiers in Endocrinology, 2022

Clinical aspects of multiple endocrine neoplasia type 1.

Al-Salameh A et al.

Nature Reviews. Endocrinology, 2021

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

Phenotypes Associated With MEN1 Syndrome: A Focus on Genotype-Phenotype Correlations.

Mele C et al.

Frontiers in Endocrinology, 2020

True MEN1 or phenocopy? Evidence for geno-phenotypic correlations in MEN1 syndrome.

Kövesdi A et al.

Endocrine, 2019

31044390 (PubMed )
Supplement: 12020_2019_1932_MOESM2_ESM.xlsx › Supplementary_Table_1

[Multiple Endocrine Neoplasia].

Uchino S et al.

Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2019

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

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

Recurrent loss of heterozygosity correlates with clinical outcome in pancreatic neuroendocrine cancer.

Lawrence B et al.

Npj Genomic Medicine, 2018

30062048 (PubMed )
Supplement: 41525_2018_58_MOESM2_ESM.xlsx › Table_S5

When Parathyroidectomy Should Be Indicated or Postponed in Adolescents With MEN1-Related Primary Hyperparathyroidism.

Marini F et al.

Frontiers in Endocrinology, 2018

Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.

Cardoso L et al.

Human Mutation, 2017

Neuroendocrine Tumors in the Stomach, Duodenum, and Pancreas Accompanied by Novel MEN1 Gene Mutation.

Yang MA et al.

The Korean Journal of Gastroenterology = Taehan Sohwagi Hakhoe Chi, 2017

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

Falchetti A

F1000research, 2017

Gene mutations in Cushing's disease.

Xiong Q et al.

Biomedical Reports, 2016

Parathyroid carcinoma and atypical parathyroid neoplasms in MEN1 patients; A clinico-pathologic challenge. The MD Anderson case series and review of the literature.

Christakis I et al.

International Journal of Surgery (london, England), 2016

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

Chung YJ et al.

Endocrinology and Metabolism (seoul, Korea), 2014

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

Thakker RV

Molecular and Cellular Endocrinology, 2014

Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1).

Thakker RV 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

Ribozyme-mediated compensatory induction of menin-oncosuppressor function in primary fibroblasts from MEN1 patients.

Luzi E et al.

Cancer Gene Therapy, 2010

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

Multiple endocrine neoplasia type 1 (MEN1).

Thakker RV

Best Practice & Research. Clinical Endocrinology & Metabolism, 2010

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

Genetic background of MEN1: from genetic homogeneity to functional diversity.

Gaudray P et al.

Advances in Experimental Medicine and Biology, 2009

The role of menin in parathyroid tumorigenesis.

Davenport C et al.

Advances in Experimental Medicine and Biology, 2009

Multiple endocrine neoplasia type 1 in Brazil: MEN1 founding mutation, clinical features, and bone mineral density profile.

Lourenço DM et al.

European Journal of Endocrinology, 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

Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype phenotype correlation.

Vierimaa O et al.

European Journal of Endocrinology, 2007

Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism.

Howell VM et al.

The Journal of Molecular Diagnostics : Jmd, 2006

Characteristics of the Danish families with multiple endocrine neoplasia type 1.

Jäger AC et al.

Molecular and Cellular Endocrinology, 2006

[Multiple endocrine neoplasia type 1 (MEN 1): clinical, biochemical and molecular diagnosis and treatment of the associated disturbances].

Hoff AO et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 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

A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing.

Cardinal JW et al.

Journal of Medical Genetics, 2005

Multiple endocrine neoplasia type 1 variant with frequent prolactinoma and rare gastrinoma.

Hao W et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

Non-islet origin of pancreatic islet cell tumors.

Vortmeyer AO et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

Cushing's disease as the first clinical manifestation of multiple endocrine neoplasia type 1 (MEN1) associated with an R460X mutation of the MEN1 gene.

Matsuzaki LN et al.

Clinical 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

[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

Multiple endocrine neoplasia type 1Burin from Mauritius: a novel MEN1 mutation.

Kong C et al.

Journal of Endocrinological Investigation, 2001

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