Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.W126*
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MEN1

NM_001370259.2:p.W126*

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

Turning Points in Cross-Disciplinary Perspective of Primary Hyperparathyroidism and Pancreas Involvements: Hypercalcemia-Induced Pancreatitis, MEN1 Gene-Related Tumors, and Insulin Resistance.

Carsote M et al.

International Journal of Molecular Sciences, 2024

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

Two distinct classes of thymic tumors in patients with MEN1 show LOH at the MEN1 locus.

Mandl A et al.

Endocrine-related Cancer, 2021

Mutational landscape and potential therapeutic targets for sporadic pancreatic neuroendocrine tumors based on target next-generation sequencing.

Zheng K et al.

Experimental and Therapeutic Medicine, 2021

33747156 (PubMed )
Supplement: Supplementary_Data3.xlsx › Table_SII

Clinical aspects of multiple endocrine neoplasia type 1.

Al-Salameh A et al.

Nature Reviews. Endocrinology, 2021

The Management of Neuroendocrine Tumors of the Lung in MEN1: Results From the Dutch MEN1 Study Group.

van den Broek MFM et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Thymic Carcinoid as the First Manifestation of Multiple Endocrine Neoplasia Type 1 Syndrome: A Case Report and Review of the Literature.

Zheng M et al.

Annals of Clinical and Laboratory Science, 2020

Comprehensive Analysis of MEN1 Mutations and Their Role in Cancer.

Nelakurti DD et al.

Cancers, 2020

Comprehensive treatment of rare multiple endocrine neoplasia type 1: A case report.

Ma CH et al.

World Journal of Clinical Cases, 2020

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

Marini F et al.

Endocrine, 2018

High throughput gene sequencing reveals altered landscape in DNA damage responses and chromatin remodeling in sporadic pancreatic neuroendocrine tumors.

Ji S et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 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

Loss of p27 expression is associated with MEN1 gene mutations in sporadic parathyroid adenomas.

Borsari S et al.

Endocrine, 2017

A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers.

Ferrari A et al.

Nature Communications, 2016

27406316 (PubMed )
Supplement: ncomms12222-s3.xlsx › genetab.txt

Histologic and Molecular Profile of Pediatric Insulinomas: Evidence of a Paternal Parent-of-Origin Effect.

Bhatti TR et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

Thyroid incidentalomas in patients with multiple endocrine neoplasia type 1.

Lodewijk L et al.

European Journal of Endocrinology, 2015

Natural course and survival of neuroendocrine tumors of thymus and lung in MEN1 patients.

de Laat JM et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

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

Crépin M et al.

Electrophoresis, 2003

Adrenal involvement in multiple endocrine neoplasia type 1.

Langer P et al.

World Journal of Surgery, 2002

[Genetics of neuroendocrine tumors].

Calender A

La Revue Du Praticien, 2002

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

Molecular genetics of neuroendocrine tumors.

Calender A

Digestion, 2000

Multiple endocrine neoplasia type 1.

Pannett AA et al.

Endocrine-related Cancer, 1999

Characterization of mutations in patients with multiple endocrine neoplasia type 1.

Bassett JH et al.

American Journal of Human Genetics, 1998

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