Associated Papers
Functional analysis of AIP variants in a cohort of neuroendocrine neoplasms.
Carranza-Zavala BR et al.
Endocrine-related Cancer, 2026
Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.
Wang Y et al.
Orphanet Journal of Rare Diseases, 2024
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W et al.
American Journal of Human Genetics, 2023
37729906 (PubMed )
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RET signalling provides tumorigenic mechanism and tissue specificity for AIP-related somatotrophinomas.
Garcia-Rendueles AR et al.
Oncogene, 2021
Mutations in Hsp90 Cochaperones Result in a Wide Variety of Human Disorders.
Johnson JL
Frontiers in Molecular Biosciences, 2021
In vivo bioassay to test the pathogenicity of missense human AIP variants.
Aflorei ED et al.
Journal of Medical Genetics, 2018
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
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
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
Familial isolated pituitary adenomas: an emerging clinical entity.
Martucci F et al.
Journal of Endocrinological Investigation, 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
Structure of the TPR domain of AIP: lack of client protein interaction with the C-terminal α-7 helix of the TPR domain of AIP is sufficient for pituitary adenoma predisposition.
Morgan RM et al.
Plos One, 2012
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