Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.W183S
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MEN1

NM_001370259.2:p.W183S

Associated Papers

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

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

Clinical aspects of multiple endocrine neoplasia type 1.

Al-Salameh A et al.

Nature Reviews. Endocrinology, 2021

Multiple Endocrine Neoplasia Type 1 (MEN1) 5'UTR Deletion, in MEN1 Family, Decreases Menin Expression.

Kooblall KG et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2021

Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing.

Ellard S et al.

Clinical Endocrinology, 2005

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

Ikeo Y et al.

Endocrine Journal, 2004

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

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

[Genetics of neuroendocrine tumors].

Calender A

La Revue Du Praticien, 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

Molecular genetics of neuroendocrine tumors.

Calender A

Digestion, 2000

Multiple endocrine neoplasia type 1.

Pannett AA et al.

Endocrine-related Cancer, 1999

Alternative genetic pathways in parathyroid tumorigenesis.

Farnebo F et al.

The Journal of Clinical Endocrinology and Metabolism, 1999

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

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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."