Varaico: Literature-Extracted Genetic Variants

Gene:AIP
Variant:p.R81*
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AIP

NM_003977.4:p.R81*

Associated Papers

Genetic evaluation of pediatric pituitary adenomas and USP8-related genotype-phenotype correlations in Cushing's disease.

Zainab R et al.

Pituitary, 2025

Aryl hydrocarbon receptor interacting protein and syndromic gene variants detected in Turkish isolated pituitary adenoma families by whole exome sequencing.

Ertorer ME et al.

Scientific Reports, 2025

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

Loughrey PB et al.

European Journal of Endocrinology, 2025

40070360 (PubMed )
Supplement: lvaf044_supplementary_data.docx

Germline AIP variants in sporadic young acromegaly and pituitary gigantism: clinical and genetic insights from a Han Chinese cohort.

Xiang B et al.

Endocrine, 2024

Low frequency of AIP mutations in patients with young-onset sporadic pituitary macroadenomas.

Gaspar LM et al.

Journal of Endocrinological Investigation, 2023

Surgery, Octreotide, Temozolomide, Bevacizumab, Radiotherapy, and Pegvisomant Treatment of an AIP Mutation‒Positive Child.

Dutta P et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

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

In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism.

Salvatori R et al.

European Journal of Endocrinology, 2017

Genetic and clinical characteristics of Japanese patients with sporadic somatotropinoma.

Matsumoto R et al.

Endocrine Journal, 2016

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

Bolger GB et al.

Endocrine-related Cancer, 2016

A novel germline mutation in the aryl hydrocarbon receptor-interacting protein (AIP) gene in an Italian family with gigantism.

Urbani C et al.

Journal of Endocrinological Investigation, 2014

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

Screening for AIP gene mutations in a Han Chinese pituitary adenoma cohort followed by LOH analysis.

Cai F et al.

European Journal of Endocrinology, 2013

Should aip gene screening be recommended in family members of FIPA patients with R16H variant?

Zatelli MC et al.

Pituitary, 2013

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

Genetic analysis in a patient presenting with meningioma and familial isolated pituitary adenoma (FIPA) reveals selective involvement of the R81X mutation of the AIP gene in the pathogenesis of the pituitary tumor.

Guaraldi F et al.

Pituitary, 2012

[Aryl hydrocarbon receptor interacting protein gene and familial isolated pituitary adenomas].

Cai F et al.

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae, 2012

Familial isolated pituitary adenomas: an emerging clinical entity.

Martucci F et al.

Journal of Endocrinological Investigation, 2012

Familial pituitary adenomas - who should be tested for AIP mutations?

Korbonits M et al.

Clinical Endocrinology, 2012

AIP and its interacting partners.

Trivellin G et al.

The Journal of Endocrinology, 2011

Genetic susceptibility in pituitary adenomas: from pathogenesis to clinical implications.

Jaffrain-Rea ML et al.

Expert Review of Endocrinology & Metabolism, 2011

Familial isolated pituitary adenomas: from genetics to therapy.

Guaraldi F et al.

Clinical and Translational Science, 2011

Clinical features and treatment of pediatric somatotropinoma: case study of an aggressive tumor due to a new AIP mutation and extensive literature review.

Personnier C et al.

Hormone Research in Paediatrics, 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

The genetics of pituitary adenomas.

Vandeva S et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2010

Isolated familial somatotropinoma: 11q13-loh and gene/protein expression analysis suggests a possible involvement of aip also in non-pituitary tumorigenesis.

Toledo RA et al.

Clinics (sao Paulo, Brazil), 2010

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 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."