Varaico: Literature-Extracted Genetic Variants

Gene:AIP
Variant:p.A299V
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AIP

NM_003977.4:p.A299V

Associated Papers

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

Gaspar LM et al.

Journal of Endocrinological Investigation, 2023

AIP and MEN1 mutations and AIP immunohistochemistry in pituitary adenomas in a tertiary referral center.

Daly AF et al.

Endocrine Connections, 2019

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

Aflorei ED et al.

Journal of Medical Genetics, 2018

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

AIP mutations in Brazilian patients with sporadic pituitary adenomas: a single-center evaluation.

Araujo PB et al.

Endocrine Connections, 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

AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience.

Ramírez-Rentería C et al.

Endocrine, 2016

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

Very low frequency of germline GPR101 genetic variation and no biallelic defects with AIP in a large cohort of patients with sporadic pituitary adenomas.

Lecoq AL et al.

European Journal of Endocrinology, 2016

Genetic mutations in sporadic pituitary adenomas--what to screen for?

Lecoq AL et al.

Nature Reviews. Endocrinology, 2015

Clinical experience in the screening and management of a large kindred with familial isolated pituitary adenoma due to an aryl hydrocarbon receptor interacting protein (AIP) mutation.

Williams F et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

[Genetic screening for mutations enables early diagnosis of pituitary adenomas].

Dal J et al.

Ugeskrift for Laeger, 2014

Familial isolated pituitary adenomas: an emerging clinical entity.

Martucci F et al.

Journal of Endocrinological Investigation, 2012

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

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 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

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

Cazabat L et al.

Hormone Research, 2009

Characteristics of familial isolated pituitary adenomas.

Daly AF et al.

Expert Review of Endocrinology & Metabolism, 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

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

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