Journal Article10.1007/S40618-014-0123-4
A novel germline mutation in the aryl hydrocarbon receptor-interacting protein ( Aip ) gene in an Italian family with gigantism
Claudio Urbani,Dania Russo,Francesco Raggi,Massimo Lombardi,Chiara Sardella,Ilaria Scattina,Isabella Lupi,Luca Manetti,Luca Tomisti,Claudio Marcocci,Enio Martino,Fausto Bogazzi +11 more
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TL;DR: A new AIP germline mutation predicted to produce a truncated AIP protein, lacking its biological properties due to the disruption of the C-terminus binding sites for both the chaperones and the client proteins of AIP.
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Abstract: Purpose
Acromegaly usually occurs as a sporadic disease, but it may be a part of familial pituitary tumor syndromes in rare cases. Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene have been associated with a predisposition to familial isolated pituitary adenoma. The aim of the present study was to evaluate the AIP gene in a patient with gigantism and in her relatives.
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Citations
Clinical, genetic and molecular characterisation of patients with familial isolated pituitary adenomas (FIPA)
H Chahal
- 01 Apr 2011
TL;DR: The clinical, genetic and molecular features of patients with FIPA are discussed and it is suggested that AIP is a tumor suppressor gene and although experimental data support this hypothesis, the exact molecular mechanism by which its disruption leads to tumorigenesis is unclear.
89
The role of AIP variants in pituitary adenomas and concomitant thyroid carcinomas in the Netherlands: a nationwide pathology registry (PALGA) study.
Eva C Coopmans,Ammar Muhammad,Adrian Daly,W. W. de Herder,F.J. van Kemenade,Albert Beckers,M. de Haan,A. J. van der Lely,Esther Korpershoek,Sebastian J C M M Neggers +9 more
TL;DR: Investigation of the prevalence of AIP gene mutations and mutations in genes that have been associated with neuroendocrine tumors in series of tumors from patients presenting with both pituitary adenomas and differentiated thyroid carcinomas revealed no mutations, while among the thyroid tumor samples BRAF was the most frequently mutated gene.
Genetics of Pituitary Tumor Syndromes
Adrian Daly,Albert Beckers +1 more
- 18 Jan 2017
TL;DR: Knowledge of the clinical features of genetically determined pituitary adenomas can help guide genetic testing strategies and optimize the diagnosis and follow-up of mutation carriers.
5
The Aryl Hydrocarbon Receptor Interacting Protein in cancer and immunity: Beyond a chaperone protein for the dioxin receptor.
Sarah A. Kazzaz,John Tawil,Edward W. Harhaj +2 more
TL;DR: The Aryl Hydrocarbon Receptor Interacting Protein (AIP) has diverse roles in cancer and immunity, acting as a tumor suppressor in the pituitary gland, and regulating innate and adaptive immunity through interactions with IRF7 and the CARMA1-BCL10-MALT1 complex.
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Genetic Causes of Familial Pituitary Tumors
Maria Manuel Costa,Márta Korbonits +1 more
- 01 Jan 2014
TL;DR: The data is summarized on multiple endocrine neoplasia type 1 and type 4, Carney complex, pheochromocytoma/paraganglioma and pituitary adenoma, and pituitsary blastoma, as well as on familial isolated pituitaries conditions associated with AIP or GPR101 mutations.
3
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Adrian Daly,Maria A. Tichomirowa,Patrick Petrossians,Elina Heliövaara,Marie Lise Jaffrain-Rea,Anne Barlier,Luciana Ansaneli Naves,Tapani Ebeling,Auli Karhu,Antti Raappana,Laure Cazabat,Ernesto De Menis,Carmen Fajardo Montañana,Gérald Raverot,Robert J. Weil,Timo Sane,Dominique Maiter,Sebastian J C M M Neggers,Maria Yaneva,AntoineAntoine Tabarin,Elisa Verrua,Eija Eloranta,Arnaud Murat,Outi Vierimaa,Pasi I. Salmela,Philippe Emy,Rodrigo A. Toledo,Maria Isabel Sabaté,Chiara Villa,Chiara Villa,Marc Popelier,Roberto Salvatori,Juliet Jennings,Ángel Ferrández Longás,José Ignacio Labarta Aizpún,Marianthi Georgitsi,Ralf Paschke,Cristina L. Ronchi,Matti Välimäki,Carola Saloranta,Wouter W. de Herder,Renato Cozzi,Mirtha Guitelman,Flavia Magri,Maria Stefania Lagonigro,Georges Halaby,Vinciane Corman,Marie-Thérèse Hagelstein,Jean-Francis Vanbellinghen,Gustavo Barcelos Barra,Anne-Paule Gimenez-Roqueplo,Fergus J. Cameron,Françoise Borson-Chazot,Ian M. Holdaway,Sergio P. A. Toledo,Günter K. Stalla,Anna Spada,Sabina Zacharieva,Jérôme Bertherat,Thierry Brue,Vincent Bours,Philippe Chanson,Lauri A. Aaltonen,Albert Beckers +63 more
TL;DR: Prisposition for aggressive disease in young patients, often in a familial setting, suggests that earlier diagnosis of AIPmut pituitary adenomas may have clinical utility.
Familial Isolated Pituitary Adenomas (FIPA) and the Pituitary Adenoma Predisposition due to Mutations in the Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene
TL;DR: This review assesses the current clinical and therapeutic characteristics of more than 200 FIPA families and addresses research findings among AIP mutation-bearing patients in different populations with pituitary adenomas.
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The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes.
Constantine A. Stratakis,Maria A. Tichomirowa,Sosipatros Boikos,Monalisa F. Azevedo,Maya Lodish,Marco Martari,Somya Verma,Adrian Daly,Margarita Raygada,Meg Keil,Jason Papademetriou,Limor Drori-Herishanu,Anelia Horvath,Kit Man Tsang,Maria Nesterova,Sherry Franklin,Jean-François Vanbellinghen,Vincent Bours,Roberto Salvatori,Albert Beckers +19 more
TL;DR: The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes is investigated.
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Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families
Susana Igreja,Harvey S Chahal,Peter J. King,Graeme B. Bolger,Umasuthan Srirangalingam,Leonardo Guasti,Paul Chapple,Giampaolo Trivellin,Maria Gueorguiev,Katie Guegan,Karen Stals,Bernard Khoo,Ajith Kumar,Sian Ellard,Ashley B. Grossman,Márta Korbonits +15 more
TL;DR: Exonic, promoter, splice‐site, and large deletion mutations in AIP are implicated in 31% of families in the authors' FIPA cohort, and missense and silent mutations are characterized using minigene constructs, luciferase and β‐galactosidase assays, as well as in silico predictions.