Varaico: Literature-Extracted Genetic Variants

Gene:AIP
Variant:p.Q164*
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AIP

NM_003977.4:p.Q164*

Associated Papers

The landscape of germline variants in breast and colorectal cancer susceptibility genes in patients with pituitary tumours.

Orsmond A et al.

Journal of Neuro-oncology, 2025

Increased Prevalence of Germline Pathogenic CHEK2 Variants in Individuals With Pituitary Adenomas.

De Sousa SMC et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Activated AMP-protein kinase (pAMPK) is overexpressed in human somatotroph pituitary adenomas.

Bizzi MF et al.

Molecular and Cellular Endocrinology, 2024

Reduced protein expression of the phosphodiesterases PDE4A4 and PDE4A8 in AIP mutation positive somatotroph adenomas.

Bizzi MF et al.

Molecular and Cellular Endocrinology, 2018

Risk category system to identify pituitary adenoma patients with AIP mutations.

Caimari F et al.

Journal of Medical Genetics, 2018

29440248 (PubMed )
Supplement: jmedgenet-2017-104957supp001.docx

cAMP-specific PDE4 phosphodiesterases and AIP in the pathogenesis of pituitary tumors.

Bolger GB et al.

Endocrine-related Cancer, 2016

Frequency of AIP gene mutations in young patients with acromegaly: a registry-based study.

Schöfl C et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene.

Beckers A et al.

Endocrine Reviews, 2013

AIP and its interacting partners.

Trivellin G et al.

The Journal of Endocrinology, 2011

Familial isolated pituitary adenomas: from genetics to therapy.

Guaraldi F et al.

Clinical and Translational Science, 2011

AIP gene and familial isolated pituitary adenomas.

Ozfirat Z et al.

Molecular and Cellular Endocrinology, 2010

Role of the aryl hydrocarbon receptor-interacting protein in familial isolated pituitary adenoma.

Cain JW et al.

Expert Review of Endocrinology & Metabolism, 2010

Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families.

Igreja S et al.

Human Mutation, 2010

20506337 (PubMed )
Supplement: humu0031-0950-SD1.pdf
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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."