Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.V184E
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MEN1

NM_001370259.2:p.V184E

Associated Papers

Multiple endocrine neoplasia type 1 with neuroglycopenic symptoms with a novel heterozygous MEN1 gene mutation.

Jiang X et al.

World Journal of Surgical Oncology, 2025

Alternative splicing generates isoform diversity in MEN1.

Ramachandran A et al.

Endocrine Oncology (bristol, England), 2024

39649118 (PubMed )
Supplement: supplementary_table_3.xlsx › Supplementary_Table_3

Clinical and molecular features of four Brazilian families with multiple endocrine neoplasia type 1.

Miranda ISM et al.

Frontiers in Endocrinology, 2023

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

35941657 (PubMed )
Supplement: 13072_2022_461_MOESM5_ESM.xlsx › Database_van_mutaties

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

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

Cardoso L et al.

Human Mutation, 2017

Genetic basis of familial isolated hyperparathyroidism: a case series and a narrative review of the literature.

Pontikides N et al.

Journal of Bone and Mineral Metabolism, 2014

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 analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome.

Mizusawa N et al.

Clinical Endocrinology, 2006

[Familial hyperparathyroidism].

Suzuki S

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006

Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors.

Cetani F et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

JunD-menin interaction regulates c-Jun-mediated AP-1 transactivation.

Ikeo Y et al.

Endocrine Journal, 2004

Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism.

Pannett AA et al.

Clinical Endocrinology, 2003

[Genetics of neuroendocrine tumors].

Calender A

La Revue Du Praticien, 2002

Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds.

Simonds WF et al.

Medicine, 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

Identification of MEN1 gene mutations in families with MEN 1 and related disorders.

Bergman L et al.

British Journal of Cancer, 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

Molecular genetics of neuroendocrine tumors.

Calender A

Digestion, 2000

Multiple endocrine neoplasia type 1.

Pannett AA et al.

Endocrine-related Cancer, 1999

Characterization of the MEN1 gene product, menin, by site-specific polyclonal antibodies.

Ikeo Y et al.

Japanese Journal of Cancer Research : Gann, 1999

Novel V184E MEN1 germline mutation in a Japanese kindred with familial hyperparathyroidism.

Fujimori M et al.

American Journal of Medical Genetics, 1998

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."