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Adrian F Daly, David A Cano, Eva Venegas-Moreno, Patrick Petrossians, Elena Dios, Emilie Castermans, Alvaro Flores-Martínez, Vincent Bours, Albert Beckers and Alfonso Soto-Moreno

) in association with a number of germline genetic mutations. Of these, the aryl hydrocarbon receptor-interacting protein ( AIP ) gene and the MEN1 gene have been widely studied in the clinical setting. Germline MEN1 mutations lead to multiple

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Paula Bruna Araujo, Leandro Kasuki, Carlos Henrique de Azeredo Lima, Liana Ogino, Aline H S Camacho, Leila Chimelli, Márta Korbonits and Monica R Gadelha

hydrocarbon receptor-interacting protein ( AIP ) gene mutations ( AIPmut ) were first described by Vierimaa and coworkers in 2006 ( 3 ). This study has found AIPmut in seemingly sporadic acromegaly patients and in familial isolated pituitary adenomas (FIPA

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Marko Stojanovic, Zida Wu, Craig E Stiles, Dragana Miljic, Ivan Soldatovic, Sandra Pekic, Mirjana Doknic, Milan Petakov, Vera Popovic, Christian Strasburger and Márta Korbonits

Introduction Aryl hydrocarbon receptor-interacting protein (AIP) is a molecular co-chaperone to heat-shock proteins. Interest in its nature and function originated from the discovery that heterozygous loss-of-function AIP mutations

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Adrian F Daly, Liliya Rostomyan, Daniela Betea, Jean-François Bonneville, Chiara Villa, Natalia S Pellegata, Beatrice Waser, Jean-Claude Reubi, Catherine Waeber Stephan, Emanuel Christ and Albert Beckers

peptide ( AIP ) gene account for the largest proportion of genetic/inheritable forms of acromegaly. Among unselected acromegaly populations, 0–4% of patients have AIP mutations/deletions, which rises in more focused groups such as familial isolated

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Anna-Pauliina Iivonen, Johanna Känsäkoski, Atte Karppinen, Leena Kivipelto, Camilla Schalin-Jäntti, Auli Karhu and Taneli Raivio

these eight patients were Gsp mutation negative. The germline WGS data did not reveal mutations in known genes linked to inherited forms of pituitary adenoma ( 11 ). All patients had been previously sequenced negative for AIP (aryl hydrocarbon

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Elena Pardi, Stefano Mariotti, Natalia S Pellegata, Katiuscia Benfini, Simona Borsari, Federica Saponaro, Liborio Torregrossa, Antonello Cappai, Chiara Satta, Marco Mastinu, Claudio Marcocci and Filomena Cetani

Hoz C Perez-Nanclares G Castano L Gaztambide S Spanish MENG . Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain . Clinical Endocrinology 2012 76 719 – 724 . ( doi:10

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Julie M Silverstein

complement GH/IGF1 in assessing treatment response, such as sKlotho (as previously described) (56, 57, 58) , increased Ki-67 levels, positive AIP mutation, large tumor size, or sparse granular pattern (61) . Updating guidance on discrepant GH/IGF1 levels

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Hélène Lasolle, Amandine Ferriere, Alexandre Vasiljevic, Sandrine Eimer, Marie-Laure Nunes and Antoine Tabarin

years (16-61), and IGF-1 and basal GH at diagnosis were 3.2 ULN (1.7–5.4) and 18.6 ng/mL (3.2-162), respectively. All but one patient had a macroadenoma. One 29-year-old patient had germinal AIP mutation (n°4, Table 1 ). Table 1 Patients