Article
Endocrinology & Metabolism
Malgorzata Trofimiuk-Muldner, Bartosz Domagala, Grzegorz Sokolowski, Anna Skalniak, Alicja Hubalewska-Dydejczyk
Summary: This study examined the frequency and characteristics of AIP gene mutations in Polish patients with apparently sporadic pituitary macroadenomas. The results showed that 5 out of 131 patients carried AIP gene mutations. However, patients with AIP gene mutations did not differ significantly from other patients in terms of age at diagnosis, tumor diameter, gender distribution, and tumor secretion frequency.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
L. M. Gaspar, C. I. Goncalves, C. Saraiva, L. Cortez, C. Amaral, E. Nobre, M. C. Lemos
Summary: This study aimed to determine the frequency of AIP germline mutations in patients with young-onset sporadic pituitary macroadenomas. Heterozygous rare sequence variants in AIP were identified in 8.3% of the patients, but only 1.8% had pathogenic or likely pathogenic variants. Four novel AIP mutations were identified in patients with GH-secreting adenomas diagnosed at a young age.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Review
Medicine, General & Internal
Anna Boguslawska, Marta Korbonits
Summary: GH-secreting pituitary tumors are highly genetically determined, with both germline and somatic mutations. Mutations can occur in known genes such as AIP, PRKAR1A, GPR101, GNAS, and others. Identifying genetic mutations can help in screening associated comorbidities and finding affected family members before clinical manifestation of the disease.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Endocrinology & Metabolism
M. Detomas, B. Altieri, J. Flitsch, W. Saeger, M. Korbonits, T. Deutschbein
Summary: This study reports a novel AIP mutation in a German family with acromegaly. It highlights the distinct clinical and histological features of AIP mutated pituitary neuroendocrine tumors and the poor responsiveness to dopamine agonists. Additionally, it emphasizes the increased mortality risk of comorbidities associated with acromegaly.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Article
Biology
Chloe R. Koulouris, Sian E. Gardiner, Tessa K. Harris, Karen T. Elvers, S. Mark Roe, Jason A. Gillespie, Simon E. Ward, Olivera Grubisha, Robert A. Nicholls, John R. Atack, Benjamin D. Bax
Summary: Human serine racemase (hSR) catalyzes the conversion of L-serine to D-serine and plays a role in the activation of NMDA receptors. The positioning of Tyr121 appears to be crucial in regulating the activity of hSR.
COMMUNICATIONS BIOLOGY
(2022)
Article
Genetics & Heredity
Laura C. Hernandez-Ramirez, Nathan Pankratz, John Lane, Fabio R. Faucz, Prashant Chittiboina, Denise M. Kay, Zachary Beethem, James L. Mills, Constantine A. Stratakis
Summary: This study aimed to determine the frequency and associated phenotypes of genetic drivers of Cushing's disease (CD). The study found that about 12.2% of patients had variants of interest at the germline level, 7.8% had variants at the somatic level, and 0.4% had coexisting germline and somatic variants.
GENETICS IN MEDICINE
(2022)
Article
Chemistry, Organic
Storm Hassell-Hart, Elisa Speranzini, Sirihathai Srikwanjai, Euan Hossack, S. Mark Roe, Daren Fearon, Daniel Akinbosede, Stephen Hare, John Spencer
Summary: A library of thiazoles and selenothiazoles were synthesized via Ir-catalyzed ylide insertion chemistry. This process is tolerant to functional groups and heterocycle substituents, making it applicable for the synthesis of anti-inflammatory drugs and enzyme-binding compounds in bacteria.
Review
Oncology
Emanuel Christ, Donato Iacovazzo, Marta Korbonits, Aurel Perren
Summary: Endogenous hyperinsulinemic hypoglycemia is a rare condition that is mostly caused by a single insulinoma. Recent evidence suggests that mutations in the MAFA gene may be associated with familial insulinomatosis.
ENDOCRINE-RELATED CANCER
(2023)
Editorial Material
Endocrinology & Metabolism
Kanokporn Sanpawithayakul, Gabor Czibik, Marta Korbonits
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Review
Endocrinology & Metabolism
P. Marques, M. Korbonits
Summary: The pituitary tumour microenvironment consists of various non-tumoural cells and signaling peptides, which can influence the behavior and development of pituitary tumours. Recent research has focused on immune and stromal cell subpopulations infiltrating pituitary tumours, as well as immune- and microenvironment-related pathways. Understanding the pituitary tumour microenvironment can improve the diagnosis and management of patients with aggressive or recurrent tumours.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Article
Endocrinology & Metabolism
Giampaolo Trivellin, Adrian F. Daly, Laura C. Hernandez-Ramirez, Elisa Araldi, Christina Tatsi, Ryan K. Dale, Gus Fridell, Arjun Mittal, Fabio R. Faucz, James R. Iben, Tianwei Li, Eleonora Vitali, Stanko S. Stojilkovic, Peter Kamenicky, Chiara Villa, Bertrand Baussart, Prashant Chittiboina, Camilo Toro, William A. Gahl, Erica A. Eugster, Luciana A. Naves, Marie-Lise Jaffrain-Rea, Wouter W. de Herder, Sebastian J. C. M. M. Neggers, Patrick Petrossians, Albert Beckers, Andrea G. Lania, Richard E. Mains, Betty A. Eipper, Constantine A. Stratakis
Summary: This study identified PAM as a candidate gene associated with pituitary hypersecretion, opening the possibility of developing novel therapeutics based on altering PAM function.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Editorial Material
Biochemistry & Molecular Biology
Chrisostomos Prodromou
Article
Biochemistry & Molecular Biology
Andrew J. Lessey, Samantha M. Mirczuk, Annisa N. Chand, Deborah M. Kurrasch, Marta Korbonits, Stijn J. M. Niessen, Craig A. Mcardle, Imelda M. Mcgonnell, Robert C. Fowkes
Summary: Human patients with mutations in NPPC or NPR2 genes have skeletal abnormalities, while mice with induced models of Nppc or Npr2 deletion exhibit achondroplasia, dwarfism, and early death. Using zebrafish as a model for vertebrate development, researchers altered the expression of CNP genes and found that CNP is crucial for normal embryonic development, specifically in regards to growth.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Oncology
Mariana Torres-Moran, Alexa L. Franco-alvarez, Rosa G. Rebollar-Vega, Laura C. Hernandez-Ramirez
Summary: Mutational hotspots have gained importance as oncological biomarkers in recent years because of their potential as predictors of clinical outcomes and/or therapeutic targets. However, the role of these hotspots in pituitary neuroendocrine tumors (PitNETs) is less clear, even though the most common genetic drivers of these tumors are located within mutational hotspots. Further research is required to fully define the role of these genetic defects as disease biomarkers and therapeutic targets in PitNETs.
Review
Endocrinology & Metabolism
Cesar L. Boguszewski, Marta Korbonits, Audrey Artignan, Almudena Martin Garcia, Aude Houchard, Antonio Ribeiro-Oliveira, Wouter W. de Herder
Summary: Home injections of somatostatin analogs have similar efficacy, safety, and adherence outcomes compared to healthcare-setting injections. Patients generally find injections at home more convenient and it also leads to cost savings.
Article
Chemistry, Multidisciplinary
Khodayar Gholivand, Mohammad Faraghi, Samaneh K. Tizhoush, Sara Ahmadi, Mostafa Yousefian, Fahimeh Mohammadpanah, S. Mark Roe
Summary: Two new Ag(i) complexes were synthesized and fully characterized. One of the complexes showed stronger antibacterial and anticancer activity. The crystal structure and intermolecular interactions of the complexes were studied, and the mechanism of cell death induced by the complexes was evaluated through apoptosis and other experiments.
NEW JOURNAL OF CHEMISTRY
(2022)
Meeting Abstract
Developmental Biology
Rieko Tadokoro Cuccaro, Ieuan Hughes, Martine Cools, Koen van de Vijver, Berenice Bilharinho de Mendonca, Sorahia Domenice, Rafael L. Batista, Renata Thomazini Dallago, Nathalia Lisboa Gomes, Elaine F. Costa, Andrea T. Maciel-Guerra, Gil Guerra-Junior, Juliana Gabriel Ribeiro de Andrade, Angela Lucas-Herald, Jillian Bryce, Sabine Hannema, Anders Juul, Eugenia Globa, Kenneth M. Elreavey, Federico Baronio, Jimena Lopez Dacal, Feyza Darendeliler, Sukran Poyrazoglu, Zofia Kolesinska, Marek Niedziela, Hedi Claahsen, Erica L. T. van den Akker, Gloria Herrmann, Navoda Atapattu, Vandana Jain, Rajni Sharma, Markus Betterdorf, Daniel Konrad, Paul Martin Holterhus, Simona Fica, Mars Skae, Gianni Russo, Marianna Rita Stancampiano, Gabriella Gazdagh, Justin H. Davies, Zainaba Mohamed, Sumudu Nimali Seneviratne, Tulay Guran, Ayla Guven, Malgorzata Wasniewska, Vilhelm Mladenov, Gilvydas Verkauskas, Renata Markosyan, Marta Korbonits, Olaf Hiort, IsabelViola Wagner, S. Faisal Ahmed, Ajay Thankamony
SEXUAL DEVELOPMENT
(2022)
Article
Endocrinology & Metabolism
Tatiane S. Silva, Fabio R. Faucz, Laura C. Hernandez-Ramirez, Nathan Pankratz, John Lane, Denise M. Kay, Arthur Lyra, Cristiane Kochi, Constantine A. Stratakis, Carlos A. Longui, James L. Mills
Summary: This study found that EPP cases with identified variants of interest are more likely to present with severe clinical disease. Several variants were identified in genes not previously associated with EPP. These findings confirm that EPP is a multigenic disorder.
JOURNAL OF THE ENDOCRINE SOCIETY
(2022)
Correction
Endocrinology & Metabolism
I Potorac, J-F Bonneville, A. F. Daly, W. de Herder, P. Fainstein-Day, P. Chanson, M. Korbonits, F. Cordido, E. B. Lamback, M. Abid, V Raverot, G. Raverot, E. A. Apinaniz, P. Caron, H. Du Boullay, M. Bidlingmaier, M. Bolanowski, M. Laloi-Michelin, F. Borson-Chazot, O. Chabre, S. Christin-Maitre, C. Briet, G. Diaz-Soto, F. Bonneville, F. Castinetti, M. R. Gadelha, N. O. Santana, M. Stelmachowska-Banas, T. Gudbjartsson, R. Villar-Taibo, T. Zornitzki, L. Tshibanda, P. Petrossians, A. Beckers
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)