Varaico: Literature-Extracted Genetic Variants

Gene:AIP
Variant:p.R271W
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AIP

NM_003977.4:p.R271W

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

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

Zainab R et al.

Pituitary, 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

Pituitary macroadenomas in childhood and adolescence: a clinical analysis of 7 patients.

Aguilar-Riera C et al.

Clinical Diabetes and Endocrinology, 2023

Novel AIP mutation in exon 6 causing acromegaly in a German family.

Detomas M et al.

Journal of Endocrinological Investigation, 2023

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

Garcia-Rendueles AR et al.

Oncogene, 2021

Clinical and genetic characteristics in patients under 30 years with sporadic pituitary adenomas.

Martínez de LaPiscina I et al.

European Journal of Endocrinology, 2021

miR-34a is upregulated in AIP-mutated somatotropinomas and promotes octreotide resistance.

Bogner EM et al.

International Journal of Cancer, 2020

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

Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members' View in an AIP Mutation-Positive Family.

Marques P et al.

International Journal of Endocrinology, 2018

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

Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours.

De Sousa SMC et al.

European Journal of Endocrinology, 2017

Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With Missense AIP Mutations.

Hernández-Ramírez LC et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

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

Bolger GB et al.

Endocrine-related Cancer, 2016

SNPs in the aryl hydrocarbon receptor-interacting protein gene associated with sporadic non-functioning pituitary adenoma.

Hu Y et al.

Experimental and Therapeutic Medicine, 2016

Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers.

Hernández-Ramírez LC et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

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

Daly AF et al.

Endocrinology and Metabolism Clinics of North America, 2015

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

Familial isolated pituitary adenoma caused by a Aip gene mutation not described before in a family context.

García-Arnés JA et al.

Endocrine Pathology, 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

[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

High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas.

Tichomirowa MA et al.

European 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

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

The R304X mutation of the aryl hydrocarbon receptor interacting protein gene in familial isolated pituitary adenomas: Mutational hot-spot or founder effect?

Occhi G et al.

Journal of Endocrinological Investigation, 2010

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

Aggressive pituitary adenomas occurring in young patients in a large Polynesian kindred with a germline R271W mutation in the AIP gene.

Jennings JE et al.

European Journal of Endocrinology, 2009

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

The tyrosine kinase receptor RET interacts in vivo with aryl hydrocarbon receptor-interacting protein to alter survivin availability.

Vargiolu M et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

Familial pituitary adenomas.

Tichomirowa MA et al.

Journal of Internal Medicine, 2009

Mutations of the gene for the aryl hydrocarbon receptor-interacting protein in pituitary adenomas.

Cazabat L et al.

Hormone Research, 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

Characteristics of familial isolated pituitary adenomas.

Daly AF et al.

Expert Review of Endocrinology & Metabolism, 2007

The clinical, pathological, and genetic features of familial isolated pituitary adenomas.

Beckers A et al.

European Journal of Endocrinology, 2007

AIP gene in pituitary adenoma predisposition.

Vahteristo P et al.

Expert Review of Endocrinology & Metabolism, 2007

Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families.

Daly AF et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with sporadic pituitary adenomas.

Barlier A et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

Susceptibility to pituitary neoplasia related to MEN-1, CDKN1B and AIP mutations: an update.

Karhu A et al.

Human Molecular Genetics, 2007

Aryl hydrocarbon receptor-interacting protein and acromegaly.

Aaltonen LA

Hormone Research, 2007

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

Tamburrano G et al.

Annales D'endocrinologie, 1992

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