Associated Papers
Functional analysis of AIP variants in a cohort of neuroendocrine neoplasms.
Carranza-Zavala BR et al.
Endocrine-related Cancer, 2026
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
Overlapping Presentations and Diverse Genetic Defects Characterize Neuroendocrine Neoplasms in a Mexican Cohort.
Hernández-Ramírez LC et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Genetic association of AIP gene variant c.910C>T with pituitary adenomaacromegaly patients of Pakistani origin.
Ghafoor J et al.
Jpma. the Journal of the Pakistan Medical Association, 2025
Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis.
Loughrey PB et al.
European Journal of Endocrinology, 2025
Activated AMP-protein kinase (pAMPK) is overexpressed in human somatotroph pituitary adenomas.
Bizzi MF et al.
Molecular and Cellular Endocrinology, 2024
Diagnosis and management of pituitary adenomas in children and adolescents.
Maiter D et al.
European Journal of Endocrinology, 2024
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
Novel AIP mutation in exon 6 causing acromegaly in a German family.
Detomas M et al.
Journal of Endocrinological Investigation, 2023
Major Genetic Motifs in Pituitary Adenomas: A Practical Literature Update.
Agrawal N et al.
World Neurosurgery, 2023
RET signalling provides tumorigenic mechanism and tissue specificity for AIP-related somatotrophinomas.
Garcia-Rendueles AR et al.
Oncogene, 2021
Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors.
Marques P et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
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
Somatic and germline mutations in the pathogenesis of pituitary adenomas.
Vandeva S et al.
European Journal of Endocrinology, 2019
Clinical genetic testing in endocrinology: Current concepts and contemporary challenges.
Newey PJ
Clinical Endocrinology, 2019
The causes and consequences of pituitary gigantism.
Beckers A et al.
Nature Reviews. Endocrinology, 2018
Reduced protein expression of the phosphodiesterases PDE4A4 and PDE4A8 in AIP mutation positive somatotroph adenomas.
Bizzi MF et al.
Molecular and Cellular Endocrinology, 2018
Interaction of AIP with protein kinase A (cAMP-dependent protein kinase).
Schernthaner-Reiter MH et al.
Human Molecular Genetics, 2018
Risk category system to identify pituitary adenoma patients with AIP mutations.
Caimari F 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
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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
Aryl Hydrocarbon Receptor-Interacting Protein (AIP) N-Terminus Gene Mutations Identified in Pituitary Adenoma Patients Alter Protein Stability and Function.
Formosa R et al.
Hormones & Cancer, 2017
Genetic Aspects of Pituitary Adenomas.
Marques P et al.
Endocrinology and Metabolism Clinics of North America, 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
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
Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland.
Radian S et al.
Human Mutation, 2017
Analysis of GPR101 and AIP genes mutations in acromegaly: a multicentric study.
Ferraù F et al.
Endocrine, 2016
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
AIP mutations impair AhR signaling in pituitary adenoma patients fibroblasts and in GH3 cells.
Lecoq AL et al.
Endocrine-related Cancer, 2016
cAMP-specific PDE4 phosphodiesterases and AIP in the pathogenesis of pituitary tumors.
Bolger GB et al.
Endocrine-related Cancer, 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
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
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
Genetic mutations in sporadic pituitary adenomas--what to screen for?
Lecoq AL et al.
Nature Reviews. Endocrinology, 2015
Regulation of aryl hydrocarbon receptor interacting protein (AIP) protein expression by MiR-34a in sporadic somatotropinomas.
Dénes J et al.
Plos One, 2015
Low rate of germline AIP mutations in patients with apparently sporadic pituitary adenomas before the age of 40: a single-centre adult cohort.
Preda V et al.
European Journal of Endocrinology, 2014
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
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