Varaico: Literature-Extracted Genetic Variants

Gene:AIP
Variant:p.C238Y
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AIP

NM_003977.4:p.C238Y

Associated Papers

Functional analysis of AIP variants in a cohort of neuroendocrine neoplasms.

Carranza-Zavala BR et al.

Endocrine-related Cancer, 2026

Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis.

Loughrey PB et al.

European Journal of Endocrinology, 2025

RET signalling provides tumorigenic mechanism and tissue specificity for AIP-related somatotrophinomas.

Garcia-Rendueles AR et al.

Oncogene, 2021

HEREDITARY PITUITARY TUMOR SYNDROMES: GENETIC AND CLINICAL ASPECTS.

García-Guzmán B et al.

Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 2020

In vivo bioassay to test the pathogenicity of missense human AIP variants.

Aflorei ED et al.

Journal of Medical Genetics, 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

Multi-chaperone function modulation and association with cytoskeletal proteins are key features of the function of AIP in the pituitary gland.

Hernández-Ramírez LC et al.

Oncotarget, 2018

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

Bolger GB et al.

Endocrine-related Cancer, 2016

A novel C-terminal nonsense mutation, Q315X, of the aryl hydrocarbon receptor-interacting protein gene in a Japanese familial isolated pituitary adenoma family.

Iwata T et al.

Endocrine Pathology, 2014

Familial pituitary tumors.

Alband N et al.

Handbook of Clinical Neurology, 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

Familial isolated pituitary adenomas: from genetics to therapy.

Guaraldi F et al.

Clinical and Translational Science, 2011

The immunophilin-like protein XAP2 is a negative regulator of estrogen signaling through interaction with estrogen receptor α.

Cai W et al.

Plos One, 2011

Familial pituitary adenomas.

Vandeva S et al.

Annales D'endocrinologie, 2010

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

The epidemiology and genetics of pituitary adenomas.

Daly AF et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2009

[Genetics of familial pituitary adenomas].

Beckers A et al.

Bulletin De L'academie Nationale De Medecine, 2009

Familial pituitary adenomas.

Tichomirowa MA et al.

Journal of Internal Medicine, 2009

The molecular biology of pituitary tumors: a personal perspective.

Grossman AB

Pituitary, 2009

The role of the aryl hydrocarbon receptor-interacting protein gene in familial and sporadic pituitary adenomas.

Leontiou CA et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

[Familial acromegaly. Apropos of a case. Review of the literature].

Tamburrano G et al.

Annales D'endocrinologie, 1992

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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."