Germline AIP variants in sporadic young acromegaly and pituitary gigantism: clinical and genetic insights from a Han Chinese cohort. | Germline AIP variants in sporadic young acromegaly and pituitary gigantism: clinical and genetic insights from a Han Chinese cohort. Xiang B, Zhang X, Liu W, Mao B, Zhao Y, Wang Y, Gong W, Ye H, Li Y, Zhang Z, Yu Y, He M. | 09/19/2024 |
The clinical and therapeutic profiles of prolactinomas associated with germline pathogenic variants in the aryl hydrocarbon receptor interacting protein (AIP) gene. | The clinical and therapeutic profiles of prolactinomas associated with germline pathogenic variants in the aryl hydrocarbon receptor interacting protein (AIP) gene. Vroonen L, Beckers A, Camby S, Cuny T, Beckers P, Jaffrain-Rea ML, Cogne M, Naves L, Ferriere A, Romanet P, Elenkova A, Karhu A, Brue T, Barlier A, Pétrossians P, Daly AF., Free PMC Article | 09/20/2023 |
Novel AIP mutation in exon 6 causing acromegaly in a German family. | Novel AIP mutation in exon 6 causing acromegaly in a German family. Detomas M, Altieri B, Flitsch J, Saeger W, Korbonits M, Deutschbein T., Free PMC Article | 07/21/2023 |
AIP gene germline variants in adult Polish patients with apparently sporadic pituitary macroadenomas. | AIP gene germline variants in adult Polish patients with apparently sporadic pituitary macroadenomas. Trofimiuk-Müldner M, Domagała B, Sokołowski G, Skalniak A, Hubalewska-Dydejczyk A., Free PMC Article | 03/1/2023 |
Functions of the Hsp90-Binding FKBP Immunophilins. | Functions of the Hsp90-Binding FKBP Immunophilins. Ortiz NR, Guy N, Garcia YA, Sivils JC, Galigniana MD, Cox MB. | 12/31/2022 |
Transcription factor GTF2B regulates AIP protein expression in growth hormone-secreting pituitary adenomas and influences tumor phenotypes. | Transcription factor GTF2B regulates AIP protein expression in growth hormone-secreting pituitary adenomas and influences tumor phenotypes. Cai F, Chen S, Yu X, Zhang J, Liang W, Zhang Y, Chen Y, Chen S, Hong Y, Yan W, Wang W, Zhang J, Wu Q., Free PMC Article | 06/11/2022 |
RET signalling provides tumorigenic mechanism and tissue specificity for AIP-related somatotrophinomas. | RET signalling provides tumorigenic mechanism and tissue specificity for AIP-related somatotrophinomas. Garcia-Rendueles AR, Chenlo M, Oroz-Gonjar F, Solomou A, Mistry A, Barry S, Gaston-Massuet C, Garcia-Lavandeira M, Perez-Romero S, Suarez-Fariña M, Pradilla-Dieste A, Dieguez C, Mehlen P, Korbonits M, Alvarez CV., Free PMC Article | 01/1/2022 |
Aryl hydrocarbon receptor interacting protein (AIP) significantly influences prognosis of pancreatic carcinoma. | Aryl hydrocarbon receptor interacting protein (AIP) significantly influences prognosis of pancreatic carcinoma. Fernández-Aceñero MJ, Barderas R, Peláez García A, Martínez-Useros J, Díez-Valladares L, Pérez-Aguirre, Ortega Medina L, de la Serna Esteban S, García-Botella S, Díaz Del Arco C, Galindo C. | 12/18/2021 |
Prognostic Role of Aryl Hydrocarbon Receptor Interacting Protein (AIP) Immunohistochemical Expression in Patients with Resected Gastric Carcinomas. | Prognostic Role of Aryl Hydrocarbon Receptor Interacting Protein (AIP) Immunohistochemical Expression in Patients with Resected Gastric Carcinomas. Díaz Del Arco C, Estrada Muñoz L, Barderas Manchado R, Peláez García A, Ortega Medina L, Molina Roldán E, Solís Fernández G, García Gómez de Las Heras S, Fernández Aceñero MJ. | 07/17/2021 |
AIP protected BCL6 from ubiquitin-mediated proteasomal degradation by FBXO11 by binding to UCHL1. | Aryl Hydrocarbon Receptor Interacting Protein Maintains Germinal Center B Cells through Suppression of BCL6 Degradation. Sun D, Stopka-Farooqui U, Barry S, Aksoy E, Parsonage G, Vossenkämper A, Capasso M, Wan X, Norris S, Marshall JL, Clear A, Gribben J, MacDonald TT, Buckley CD, Korbonits M, Haworth O., Free PMC Article | 07/11/2020 |
The entire coding sequence of the AIP gene, along with exon/intron boundaries and the untranslated regions of 41 newly recruited pituitary adenoma patients, were sequenced for germline variations.The AIP c.911G>A: p.Arg304Gln (rs104894190) variant was detected in only two patients with functional PA: one with somatotropinoma and one with prolactinoma. None of the corticotrophinomas had AIP gene alterations. | Screening of AIP Gene Variations in a Cohort of Turkish Patients with Young-Onset Sporadic Hormone-Secreting Pituitary Adenomas. Tuncer FN, Çiftçi Doğanşen S, Serbest E, Tanrıkulu S, Ekici Y, Bilgiç B, Yarman S. | 05/9/2020 |
results suggest that a crosstalk between the tumor and its microenvironment plays a key role in the invasive nature of AIP-mutation-positive tumors | Tumor microenvironment defines the invasive phenotype of AIP-mutation-positive pituitary tumors. Barry S, Carlsen E, Marques P, Stiles CE, Gadaleta E, Berney DM, Roncaroli F, Chelala C, Solomou A, Herincs M, Caimari F, Grossman AB, Crnogorac-Jurcevic T, Haworth O, Gaston-Massuet C, Korbonits M., Free PMC Article | 02/15/2020 |
AIP interacts with the PKA pathway on multiple levels, including a physical interaction with both the main regulatory PRKAR1A and catalytic PRKACA subunits.AIP protein levels are regulated both by translation and the ubiquitin/proteasome pathway. | Interaction of AIP with protein kinase A (cAMP-dependent protein kinase). Schernthaner-Reiter MH, Trivellin G, Stratakis CA., Free PMC Article | 12/7/2019 |
We propose a user-friendly risk categorisation system that can reliably group patients into high-risk, moderate-risk and low-risk groups for the presence of AIP mutations, thus providing guidance in identifying patients at high risk of carrying an AIP mutation. This risk score is based on a cohort with high prevalence of AIP mutations and should be applied cautiously in other populations. | Risk category system to identify pituitary adenoma patients with AIP mutations. Caimari F, Hernández-Ramírez LC, Dang MN, Gabrovska P, Iacovazzo D, Stals K, Ellard S, Korbonits M, International FIPA consortium., Free PMC Article | 09/21/2019 |
lack of AIP hinders the upregulation of PDE4A8 and PDE4A4 protein seen in sporadic somatotrophinomas. | Reduced protein expression of the phosphodiesterases PDE4A4 and PDE4A8 in AIP mutation positive somatotroph adenomas. Bizzi MF, Pinheiro SVB, Bolger GB, Schweizer JROL, Giannetti AV, Dang MN, Ribeiro-Oliveira A Jr, Korbonits M. | 05/4/2019 |
The novel missense mutation in the AIP gene, p.T171I, identified in a Chinese growth hormone (GH)-secreting Familial Isolated Pituitary Adenoma case, is a pathogenic variant that stimulated tumor cell proliferation and invasiveness and GH hypersecretion. The AIP-SSTR2-ZAC1 and AIP-IL-6-STAT3 pathways might be involved in these cell processes. | A Novel Mutation of Aryl Hydrocarbon Receptor Interacting Protein Gene Associated with Familial Isolated Pituitary Adenoma Mediates Tumor Invasion and Growth Hormone Hypersecretion. Cai F, Hong Y, Xu J, Wu Q, Reis C, Yan W, Wang W, Zhang J. | 04/6/2019 |
AIP mutation is associated with familial pituitary adenoma syndromes. | Frequency of familial pituitary adenoma syndromes among patients with functioning pituitary adenomas in a reference outpatient clinic. Marques NV, Kasuki L, Coelho MC, Lima CHA, Wildemberg LE, Gadelha MR. | 08/4/2018 |
A missense variant in aryl hydrocarbon receptor-interacting protein (AIP) gene and a truncating mutation in multiple endocrine neoplasia I protein (MEN1) gene were both detected in the proband and his father, showing limited co-segregation with phenotype. | Co-occurrence of MEN1 p.Gly111fs and AIP p.Arg16His Variants in Familial MEN1 Phenotype. DE Melo FM, Bastos-Rodrigues L, Sarquis MM, Friedman E, DE Marco L. | 06/16/2018 |
The array was immunoscreened with serum from the patient in dilution 1:2000, and a strong signal on the array was identified as AIPL1, a protein with expression specifically restricted to the retina and the pineal gland. | Aryl Hydrocarbon Receptor-Interacting Protein-Like 1 in Cancer-Associated Retinopathy. Dalin F, Adamus G, Yang S, Landgren E, Palle J, Hallgren Å, Frost BM, Hugosson T, Landegren N, Eriksson D, Andréasson S, Tabbara KF, Kämpe O, Alimohammadi M. | 06/1/2018 |
Earlier diagnosis of AIP-related acromegaly-gigantism cases enables timely clinical evaluation and treatment, thereby improving outcomes in terms of excessive linear growth and acromegaly comorbidities--{REVIEW} | AIP mutations and gigantism. Rostomyan L, Potorac I, Beckers P, Daly AF, Beckers A. | 03/24/2018 |
Therefore, both functional and structural studies reveal that N-terminus mutations in the AIP gene alter protein behaviour significantly and hence can truly be pathogenic in nature. | Aryl Hydrocarbon Receptor-Interacting Protein (AIP) N-Terminus Gene Mutations Identified in Pituitary Adenoma Patients Alter Protein Stability and Function. Formosa R, Vassallo J., Free PMC Article | 02/24/2018 |
This study of human fibroblasts bearing endogenous heterozygous AIP mutations and transfected pituitary GH3 cells shows that AIP mutations affect the AIP protein level and alter AhR transcriptional activity in a gene- and tissue-dependent manner. | AIP mutations impair AhR signaling in pituitary adenoma patients fibroblasts and in GH3 cells. Lecoq AL, Viengchareun S, Hage M, Bouligand J, Young J, Boutron A, Zizzari P, Lombès M, Chanson P, Kamenický P. | 01/13/2018 |
The expression of PDE4A4 and PDE4A8 in normal pituitary, their increased expression in adenomatous pituitary cells where AIP is meant to participate, and the disruption of the PDE4A4-AIP interaction by AIP mutants may play a role in pituitary tumorigenesis. | cAMP-specific PDE4 phosphodiesterases and AIP in the pathogenesis of pituitary tumors. Bolger GB, Bizzi MF, Pinheiro SV, Trivellin G, Smoot L, Accavitti MA, Korbonits M, Ribeiro-Oliveira A Jr., Free PMC Article | 01/13/2018 |
The aryl hydrocarbon receptor interacting protein (AIP) founder mutation R304(*) is frequent in Mid Ulster, resulting in numerous acromegaly/gigantism cases. | Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland. Radian S, Diekmann Y, Gabrovska P, Holland B, Bradley L, Wallace H, Stals K, Bussell AM, McGurren K, Cuesta M, Ryan AW, Herincs M, Hernández-Ramírez LC, Holland A, Samuels J, Aflorei ED, Barry S, Dénes J, Pernicova I, Stiles CE, Trivellin G, McCloskey R, Ajzensztejn M, Abid N, Akker SA, Mercado M, Cohen M, Thakker RV, Baldeweg S, Barkan A, Musat M, Levy M, Orme SM, Unterländer M, Burger J, Kumar AV, Ellard S, McPartlin J, McManus R, Linden GJ, Atkinson B, Balding DJ, Agha A, Thompson CJ, Hunter SJ, Thomas MG, Morrison PJ, Korbonits M., Free PMC Article | 01/13/2018 |
the well-known interaction between AIP and 2 different isoforms of phosphodiesterases (PDEs), PDE2A3 and PDE4A5, is of particular interest. While the interaction with over-expressed AIP does not seem to affect PDE2A3 function, the reported effect on PDE4A5 is, in contrast, reduced enzymatic activity. | Role of Phosphodiesterases on the Function of Aryl Hydrocarbon Receptor-Interacting Protein (AIP) in the Pituitary Gland and on the Evaluation of AIP Gene Variants. Hernández-Ramírez LC, Trivellin G, Stratakis CA. | 12/16/2017 |