Associated Papers
Functional analysis of AIP variants in a cohort of neuroendocrine neoplasms.
Carranza-Zavala BR et al.
Endocrine-related Cancer, 2026
From misclassified AIP variant to carney complex: a case report and retrospective evaluation of PRKAR1A in pituitary tumor predisposition.
Piazzola C 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
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
An Update on the Genetic Drivers of Corticotroph Tumorigenesis.
Hernández-Ramírez LC et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 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
Alleviating misclassified germline variants in underrepresented populations: A strategy using popmax.
Lee NY et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
AIP gene germline variants in adult Polish patients with apparently sporadic pituitary macroadenomas.
Trofimiuk-Müldner M et al.
Frontiers in Endocrinology, 2023
Concurrent mutations of germline GPR101 and somatic USP8 in a pediatric giant pituitary ACTH adenoma: a case report.
Bao XD et al.
Bmc Endocrine Disorders, 2022
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
Mutations in Hsp90 Cochaperones Result in a Wide Variety of Human Disorders.
Johnson JL
Frontiers in Molecular Biosciences, 2021
Phenotypic and genotypic features of a large kindred with a germline AIP variant.
Dal J et al.
Clinical Endocrinology, 2020
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
Mutation Spectrum of Cancer-Associated Genes in Patients With Early Onset of Colorectal Cancer.
Zhunussova G et al.
Frontiers in Oncology, 2019
Screening of AIP Gene Variations in a Cohort of Turkish Patients with Young-Onset Sporadic Hormone-Secreting Pituitary Adenomas.
Tuncer FN et al.
Genetic Testing and Molecular Biomarkers, 2018
In vivo bioassay to test the pathogenicity of missense human AIP variants.
Aflorei ED et al.
Journal of Medical Genetics, 2018
Genetics of Cushing's Syndrome.
Hernández-Ramírez LC et al.
Endocrinology and Metabolism Clinics of North America, 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
Somatic USP8 mutations are frequent events in corticotroph tumor progression causing Nelson's tumor.
Pérez-Rivas LG et al.
European Journal of Endocrinology, 2018
Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease.
Newey PJ et al.
Journal of the Endocrine Society, 2017
AIP mutations in Brazilian patients with sporadic pituitary adenomas: a single-center evaluation.
Araujo PB et al.
Endocrine Connections, 2017
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
Genetic Aspects of Pituitary Adenomas.
Marques P et al.
Endocrinology and Metabolism Clinics of North America, 2017
Analysis of GPR101 and AIP genes mutations in acromegaly: a multicentric study.
Ferraù F 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
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
An unusual case of an ACTH-secreting macroadenoma with a germline variant in the aryl hydrocarbon receptor-interacting protein (AIP) gene.
Dinesen PT et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2015
Frequency of AIP gene mutations in young patients with acromegaly: a registry-based study.
Schöfl C et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
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 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
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
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
Aryl hydrocarbon receptor interacting protein (AIP) mutations occur rarely in sporadic parathyroid adenomas.
Pardi E et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Should aip gene screening be recommended in family members of FIPA patients with R16H variant?
Zatelli MC et al.
Pituitary, 2013
Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis.
Cuny T 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
[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
Germline AIP mutations in apparently sporadic pituitary adenomas: prevalence in a prospective single-center cohort of 443 patients.
Cazabat L et al.
The Journal of Clinical Endocrinology and Metabolism, 2012