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Solène Castellnou, Alexandre Vasiljevic, Véronique Lapras, Véronique Raverot, Eudeline Alix, Françoise Borson-Chazot, Emmanuel Jouanneau, Gérald Raverot and Hélène Lasolle

, 18 , 19 ). However, using immunohistochemistry (IHC), SST5 expression was only found in 20 to 55% of corticotroph tumors ( 20 , 21 , 22 ). Somatic driver mutations in the ubiquitin-specific protease 8 ( USP8 ) gene, identified in 35% to 60% of

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Esben S Lauritzen, Nikolaj Rittig, Ermina Bach, Niels Møller and Mette Bjerre

regulated by other transcription factors ( 8 , 9 ). Free fatty acids (FFA) are among some of the substrates that activate PPARα ( 10 ), and in concordance, FGF21 increases during fasting in rodent models ( 5 ). In humans, however, fasting is not associated

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Rui M B Maciel, Cleber P Camacho, Lígia V M Assumpção, Natassia E Bufalo, André L Carvalho, Gisah A de Carvalho, Luciana A Castroneves, Francisco M de Castro Jr, Lucieli Ceolin, Janete M Cerutti, Rossana Corbo, Tânia M B L Ferraz, Carla V Ferreira, M Inez C França, Henrique C R Galvão, Fausto Germano-Neto, Hans Graf, Alexander A L Jorge, Ilda S Kunii, Márcio W Lauria, Vera L G Leal, Susan C Lindsey, Delmar M Lourenço Jr, Léa M Z Maciel, Patrícia K R Magalhães, João R M Martins, M Cecília Martins-Costa, Gláucia M F S Mazeto, Anelise I Impellizzeri, Célia R Nogueira, Edenir I Palmero, Cencita H C N Pessoa, Bibiana Prada, Débora R Siqueira, Maria Sharmila A Sousa, Rodrigo A Toledo, Flávia O F Valente, Fernanda Vaisman, Laura S Ward, Shana S Weber, Rita V Weiss, Ji H Yang, Magnus R Dias-da-Silva, Ana O Hoff, Sergio P A Toledo and Ana L Maia

:79,462 ( 6 ). MEN2A and MEN2B are caused by germline mutations of the RET gene ( 7 , 8 , 9 , 10 , 11 ). The demonstration that RET mutations are associated with the MEN2 phenotype have altered not only the diagnosis but also the treatment of these

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Marilena Nakaguma, Fernanda A Correa, Lucas S Santana, Anna F F Benedetti, Ricardo V Perez, Martha K P Huayllas, Mirta B Miras, Mariana F A Funari, Antonio M Lerario, Berenice B Mendonca, Luciani R S Carvalho, Alexander A L Jorge and Ivo J P Arnhold

posterior pituitary (EPP) lobe (68%, n  = 79) ( Fig. 1 ). The median age of the first visit was 11 years (ranging from 6 days to 51.9 years), height SDS of –3.8 (ranging from –1.8 to –7.4) and GH peak of 1.7 µg/dL (ranging from undetectable to 4.7 µg

Open access

Nikolaj Rittig, Mads Svart, Niels Jessen, Niels Møller, Holger J Møller and Henning Grønbæk

increased circulating free fatty acid (FFA) levels ( 7 , 8 , 9 ). Administration of LPS to healthy human volunteers is a well-established model simulating the initial steps of sepsis ( 10 ). The model excels itself by producing a homogeneous and uniform

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P G Murray, D Hanson, T Coulson, A Stevens, A Whatmore, R L Poole, D J Mackay, G C M Black and P E Clayton

) and coiled-coil domain containing 8 ( CCDC8 ) (3) . CUL7 is a scaffold protein forming part of an E3 ubiquitin ligase enzyme responsible for cytoplasmic protein degradation (4) , while OBSL1 is a cytoskeletal adaptor protein which localises to the

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Wolfgang Koechling, Daniel Plaksin, Glenn E Croston, Janni V Jeppesen, Kirsten T Macklon and Claus Yding Andersen

,3- and alpha 2,6-linked sialic acid ( 7 , 8 , 9 ). Recently follitropin delta has been described (FE 999049), the first recombinant FSH protein in clinical development that is expressed in a human cell line (PER.C6), with individualized dosing

Open access

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

hormones and a normal pituitary MRI ( Fig. 1C ). This patient’s tissue sample has been tested negative for somatic ubiquitin-specific protease 8 (USP8) gene ( 30 ). No mutations were detected among patients with NFPA. There was no difference regarding age