Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.A242V
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MEN1

NM_001370259.2:p.A242V

Associated Papers

Functional assessment of protein variants in structured domains by fluorescence cross-correlation spectroscopy.

Mateu-Regué À et al.

Scientific Reports, 2026

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

Clinical profile and treatment outcomes among patients with sporadic and multiple endocrine neoplasia syndrome-related primary hyperparathyroidism.

Mathew UE et al.

Clinical Endocrinology, 2023

Diagnostic and therapeutic challenges of glioblastoma as an initial malignancy of constitutional mismatch repair deficiency (CMMRD): two case reports and a literature review.

Onishi S et al.

Bmc Medical Genomics, 2023

36647049 (PubMed )
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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 )
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Comprehensive Analysis of MEN1 Mutations and Their Role in Cancer.

Nelakurti DD et al.

Cancers, 2020

Menin and Daxx Interact to Suppress Neuroendocrine Tumors through Epigenetic Control of the Membrane Metallo-Endopeptidase.

Feng Z et al.

Cancer Research, 2017

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

Nozières C et al.

Annales D'endocrinologie, 2014

Menin directly represses Gli1 expression independent of canonical Hedgehog signaling.

Gurung B et al.

Molecular Cancer Research : Mcr, 2013

Menin epigenetically represses Hedgehog signaling in MEN1 tumor syndrome.

Gurung B et al.

Cancer Research, 2013

The embryonic transcription factor Hlxb9 is a menin interacting partner that controls pancreatic β-cell proliferation and the expression of insulin regulators.

Shi K et al.

Endocrine-related Cancer, 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

The same pocket in menin binds both MLL and JUND but has opposite effects on transcription.

Huang J et al.

Nature, 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

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

Crystal structure of menin reveals binding site for mixed lineage leukemia (MLL) protein.

Murai MJ et al.

The Journal of Biological Chemistry, 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

MEN1 in pancreatic endocrine tumors: analysis of gene and protein status in 169 sporadic neoplasms reveals alterations in the vast majority of cases.

Corbo V et al.

Endocrine-related Cancer, 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

Menin regulates endocrine diseases by controlling histone modification and gene transcription.

Gao SB et al.

Annales D'endocrinologie, 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

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

Genetic disorders of calcium and phosphorus metabolism.

Root AW

Critical Reviews in Clinical Laboratory Sciences, 2000

A newly recognized germline mutation of MEN1 gene identified in a patient with parathyroid adenoma and carcinoma.

Sato M et al.

Endocrine, 2000

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

Multiple endocrine neoplasia type 1: clinical and genetic topics.

Marx S et al.

Annals of Internal Medicine, 1998

Germline and somatic mutation of the gene for multiple endocrine neoplasia type 1 (MEN1).

Marx SJ et al.

Journal of Internal Medicine, 1998

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

Agarwal SK et al.

Human Mutation, 1998

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

Agarwal SK et al.

Human Molecular Genetics, 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."