Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.L22R
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MEN1

NM_001370259.2:p.L22R

Associated Papers

[The 514th case: urinary stone excretion, elevated blood glucose, pancreatic mass,and co-secretion of multiple hormones].

Zhang YR et al.

Zhonghua Nei Ke Za Zhi, 2025

Menin orchestrates macrophage reprogramming to maintain the pulmonary immune homeostasis.

Zhu X et al.

Cell Reports, 2025

Multiple Endocrine Neoplasia Type 1 Regulates TGFβ-Mediated Suppression of Tumor Formation and Metastasis in Melanoma.

Boudreault J et al.

Cells, 2024

Alternative splicing generates isoform diversity in MEN1.

Ramachandran A et al.

Endocrine Oncology (bristol, England), 2024

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

Investigating the Effects of Amino Acid Variations in Human Menin.

Biancaniello C et al.

Molecules (basel, Switzerland), 2022

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

Comprehensive Analysis of MEN1 Mutations and Their Role in Cancer.

Nelakurti DD et al.

Cancers, 2020

Menin epigenetically represses Hedgehog signaling in MEN1 tumor syndrome.

Gurung B et al.

Cancer Research, 2013

Menin/PRMT5/hedgehog signaling: a potential target for the treatment of multiple endocrine neoplasia type 1 tumors.

Gurung B et al.

Epigenomics, 2013

Impaired transforming growth factor-β (TGF-β) transcriptional activity and cell proliferation control of a menin in-frame deletion mutant associated with multiple endocrine neoplasia type 1 (MEN1).

Canaff L et al.

The Journal of Biological Chemistry, 2012

Cushing's syndrome in multiple endocrine neoplasia type 1.

Simonds WF et al.

Clinical Endocrinology, 2012

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

A novel splice site mutation of the MEN1 gene identified in a patient with primary hyperparathyroidism.

Nagamura Y et al.

Endocrine Journal, 2012

Application of an intracellular stability test of a novel missense menin mutant to the diagnosis of multiple endocrine neoplasia type 1.

Nagamura Y et al.

Endocrine Journal, 2012

Menin represses malignant phenotypes of melanoma through regulating multiple pathways.

Gao SB et al.

Journal of Cellular and Molecular Medicine, 2011

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

DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors.

Jiao Y et al.

Science (new York, N.y.), 2011

The menin tumor suppressor protein is phosphorylated in response to DNA damage.

Francis J et al.

Plos One, 2011

Lung cancer cell migration is regulated via repressing growth factor PTN/RPTP β/ζ signaling by menin.

Feng ZJ et al.

Oncogene, 2010

Regulation of cyclin B2 expression and cell cycle G2/m transition by menin.

Wu T et al.

The Journal of Biological Chemistry, 2010

Suppression of lung adenocarcinoma through menin and polycomb gene-mediated repression of growth factor pleiotrophin.

Gao SB et al.

Oncogene, 2009

The multiple endocrine neoplasia type 1 (MEN1) tumor suppressor regulates peroxisome proliferator-activated receptor gamma-dependent adipocyte differentiation.

Dreijerink KM et al.

Molecular and Cellular Biology, 2009

Menin promotes the Wnt signaling pathway in pancreatic endocrine cells.

Chen G et al.

Molecular Cancer Research : Mcr, 2008

Menin critically links MLL proteins with LEDGF on cancer-associated target genes.

Yokoyama A et al.

Cancer Cell, 2008

MEN1 gene mutations in Hungarian patients with multiple endocrine neoplasia type 1.

Balogh K et al.

Clinical Endocrinology, 2007

Menin-mediated caspase 8 expression in suppressing multiple endocrine neoplasia type 1.

La P et al.

The Journal of Biological Chemistry, 2007

Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus.

Hughes CM et al.

Molecular Cell, 2004

Menin, a tumor suppressor, associates with nonmuscle myosin II-A heavy chain.

Obungu VH et al.

Oncogene, 2003

The 32-kilodalton subunit of replication protein A interacts with menin, the product of the MEN1 tumor suppressor gene.

Sukhodolets KE et al.

Molecular and Cellular Biology, 2003

Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.

Wautot V et al.

Human Mutation, 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

The MEN1 gene and associated diseases: an update.

Tsukada T et al.

Endocrine Pathology, 2001

Multiple endocrine neoplasia type 1.

Pannett AA et al.

Endocrine-related Cancer, 1999

Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription.

Agarwal SK et al.

Cell, 1999

Identification and characterization of the multiple endocrine neoplasia type 1 (MEN1) gene.

Guru SC et al.

Journal of Internal Medicine, 1998

Multiple endocrine neoplasia 1 gene alterations in MEN1-associated and sporadic lipomas.

Vortmeyer AO et al.

Journal of the National Cancer Institute, 1998

Mutations of the MEN1 tumor suppressor gene in pituitary tumors.

Zhuang Z et al.

Cancer Research, 1997

Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.

Agarwal SK et al.

Human Molecular Genetics, 1997

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

Lemmens I et al.

Human Molecular Genetics, 1997

Localization of the multiple endocrine neoplasia type I (MEN1) gene based on tumor loss of heterozygosity analysis.

Emmert-Buck MR et al.

Cancer Research, 1997

Haplotype analysis defines a minimal interval for the multiple endocrine neoplasia type 1 (MEN1) gene.

Debelenko LV et al.

Cancer Research, 1997

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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."