Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.W183*
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MEN1

NM_001370259.2:p.W183*

Associated Papers

Germline genetic variants in young-onset sporadic pituitary macroadenomas: A multigene panel analysis.

Gaspar LM et al.

Journal of Clinical & Translational Endocrinology, 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 profile and treatment outcomes among patients with sporadic and multiple endocrine neoplasia syndrome-related primary hyperparathyroidism.

Mathew UE et al.

Clinical Endocrinology, 2023

Multiple endocrine neoplasia type 1 in children and adolescents: Clinical features and treatment outcomes.

Shariq OA et al.

Surgery, 2022

Aberrant methylation underlies insulin gene expression in human insulinoma.

Karakose E et al.

Nature Communications, 2020

Radiological surveillance in multiple endocrine neoplasia type 1: a double-edged sword?

Casey RT et al.

Endocrine Connections, 2017

28298337 (PubMed )
Supplement: ec-6-151-t001.pdf

Glucose-dependent insulinotropic peptide receptor overexpression in adrenocortical hyperplasia in MEN1 syndrome without loss of heterozygosity at the 11q13 locus.

Costa MH et al.

Clinics (sao Paulo, Brazil), 2011

Clinical testing for mutations in the MEN1 gene in Sweden: a report on 200 unrelated cases.

Tham E et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

Novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1.

Jap TS et al.

Clinical Endocrinology, 2005

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

Genetics of neuroendocrine and carcinoid tumours.

Leotlela PD et al.

Endocrine-related Cancer, 2003

[Genetics of neuroendocrine tumors].

Calender A

La Revue Du Praticien, 2002

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

Molecular genetics of neuroendocrine tumors.

Calender A

Digestion, 2000

Multiple endocrine neoplasia type 1.

Pannett AA et al.

Endocrine-related Cancer, 1999

Multiple endocrine neoplasia type 1: clinical and genetic topics.

Marx S et al.

Annals of Internal Medicine, 1998

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

Bassett JH et al.

American Journal of Human Genetics, 1998

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

Agarwal SK et al.

Human Mutation, 1998

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

Lemmens I et al.

Human Molecular Genetics, 1997

Role of multiple endocrine neoplasia type 1 mutational analysis in clinical practice.

Newey PJ et al.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 0

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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."