Varaico: Literature-Extracted Genetic Variants

Gene:AIP
Variant:p.Q14*
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AIP

NM_003977.4:p.Q14*

Associated Papers

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

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

Genetic Aspects of Pituitary Adenomas.

Marques P et al.

Endocrinology and Metabolism Clinics of North America, 2017

AIP mutations and gigantism.

Rostomyan L et al.

Annales D'endocrinologie, 2017

Sporadic pituitary adenomas: the role of germline mutations and recommendations for genetic screening.

Iacovazzo D et al.

Expert Review of Endocrinology & Metabolism, 2017

The role of AIP mutations in pituitary adenomas: 10 years on.

Daly AF et al.

Endocrine, 2017

Impact of AIP and inhibitory G protein alpha 2 proteins on clinical features of sporadic GH-secreting pituitary adenomas.

Ritvonen E et al.

European Journal of Endocrinology, 2017

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

Do the aryl hydrocarbon receptor interacting protein variants (Q228K and Q307R) play a role in patients with familial and sporadic hormone-secreting pituitary adenomas?

Yarman S et al.

Genetic Testing and Molecular Biomarkers, 2015

AIP inactivation leads to pituitary tumorigenesis through defective Gαi-cAMP signaling.

Tuominen I et al.

Oncogene, 2015

The AIP (aryl hydrocarbon receptor-interacting protein) gene and its relation to the pathogenesis of pituitary adenomas.

Lloyd C et al.

Endocrine, 2014

Familial acromegaly due to aryl hydrocarbon receptor-interacting protein (AIP) gene mutation in a Turkish cohort.

Niyazoglu M et al.

Pituitary, 2014

Genetic and epigenetic mutations of tumor suppressive genes in sporadic pituitary adenoma.

Zhou Y et al.

Molecular and Cellular Endocrinology, 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

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: an emerging clinical entity.

Martucci F et al.

Journal of Endocrinological Investigation, 2012

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 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

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

Igreja S et al.

Human Mutation, 2010

The expression of AIP-related molecules in elucidation of cellular pathways in pituitary adenomas.

Heliövaara E et al.

The American Journal of Pathology, 2009

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

Familial pituitary tumor syndromes.

Elston MS et al.

Nature Reviews. Endocrinology, 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

No evidence of somatic aryl hydrocarbon receptor interacting protein mutations in sporadic endocrine neoplasia.

Raitila A et al.

Endocrine-related Cancer, 2007

Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas.

Cazabat L et al.

European Journal of Endocrinology, 2007

AIP gene in pituitary adenoma predisposition.

Vahteristo P et al.

Expert Review of Endocrinology & Metabolism, 2007

[Familial pituitary adenomas: clinical and genetic aspects].

Bricaire L et al.

Annales D'endocrinologie, 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

The aryl hydrocarbon receptor-interacting protein gene is rarely mutated in sporadic GH-secreting adenomas.

Iwata T et al.

Clinical Endocrinology, 2007

AIP Mutations are not identified in patients with sporadic pituitary adenomas.

DiGiovanni R et al.

Endocrine Pathology, 2007

Aryl hydrocarbon receptor-interacting protein and acromegaly.

Aaltonen LA

Hormone Research, 2007

Aryl hydrocarbon receptor interacting protein variants in sporadic pituitary adenomas.

Yu R et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

Pituitary adenoma predisposition caused by germline mutations in the AIP gene.

Vierimaa O et al.

Science (new York, N.y.), 2006

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

Tamburrano G et al.

Annales D'endocrinologie, 1992

Genetics of gigantism and acromegaly.

Hannah-Shmouni F et al.

Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 0

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