VHL-P138R and VHL-L163R Novel Variants: Mechanisms of VHL Pathogenicity Involving HIF-Dependent and HIF-Independent Actions

Autor: Cecilia Mathó, María Celia Fernández, Jenner Bonanata, Xian-De Liu, Ayelen Martin, Ana Vieites, Gabriela Sansó, Marta Barontini, Eric Jonasch, E. Laura Coitiño, Patricia Alejandra Pennisi

Publikováno v: Frontiers in Endocrinology, Vol 13 (2022)

The von Hippel–Lindau (VHL) disease is an autosomal dominant cancer syndrome caused by mutations in the VHL tumor suppressor gene. VHL protein (pVHL) forms a complex (VBC) with Elongins B-C, Cullin2, and Rbx1. Although other functions have been dis

Externí odkaz: https://doaj.org/article/0530ee22a66f41148a78696477d8fad4

Supplementary Methods from Insulin-Mediated Acceleration of Breast Cancer Development and Progression in a Nonobese Model of Type 2 Diabetes

Autor: Derek LeRoith, Teresa L. Wood, Shoshana Yakar, Stefania Santopietro, Wilson Mejia, Naamit Kurshan, Alfredo A. Molinolo, Patricia A. Pennisi, Marco M. Gottardis, Joan M. Carboni, Yvonne Fierz, Deborah A. Lazzarino, Anne Rowzee, Archana Vijayakumar, Danielle E. Lann, Ruslan Novosyadlyy

Supplementary Methods from Insulin-Mediated Acceleration of Breast Cancer Development and Progression in a Nonobese Model of Type 2 Diabetes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c12d21fe838380e0ef7c3908feb7790
https://doi.org/10.1158/0008-5472.22385397.v1

Novel Insulin-Like Growth Factor 1 Gene Mutation: Broadening of the Phenotype and Implications for Insulin Resistance

Autor: Claudio Giacomozzi, Ayelen Martin, María Celia Fernández, Mariana Gutiérrez, Maria Iascone, Horacio M Domené, Fernando P Dominici, Ignacio Bergadá, Biagio Cangiano, Luca Persani, Patricia A Pennisi

Publikováno v: The Journal of clinical endocrinology and metabolism.

Context Insulin-like growth factor (IGF)1 gene mutations are extremely rare causes of pre- and postnatal growth retardation. Phenotype can be heterogenous with varying degrees of neurosensory deafness, cognitive defects, glucose metabolism impairment

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7881ba4884c97ee2704655395cea3de2
https://pubmed.ncbi.nlm.nih.gov/36546343

Safety of growth hormone replacement in survivors of cancer and intracranial and pituitary tumours: a consensus statement

Autor: Margaret C S Boguszewski, Cesar L Boguszewski, Wassim Chemaitilly, Laurie E Cohen, Judith Gebauer, Claire Higham, Andrew R Hoffman, Michel Polak, Kevin C J Yuen, Nathalie Alos, Zoltan Antal, Martin Bidlingmaier, Beverley M K Biller, George Brabant, Catherine S Y Choong, Stefano Cianfarani, Peter E Clayton, Regis Coutant, Adriane A Cardoso-Demartini, Alberto Fernandez, Adda Grimberg, Kolbeinn Guðmundsson, Jaime Guevara-Aguirre, Ken K Y Ho, Reiko Horikawa, Andrea M Isidori, Jens Otto Lunde Jørgensen, Peter Kamenicky, Niki Karavitaki, John J Kopchick, Maya Lodish, Xiaoping Luo, Ann I McCormack, Lillian Meacham, Shlomo Melmed, Sogol Mostoufi Moab, Hermann L Müller, Sebastian J C M M Neggers, Manoel H Aguiar Oliveira, Keiichi Ozono, Patricia A Pennisi, Vera Popovic, Sally Radovick, Lars Savendahl, Philippe Touraine, Hanneke M van Santen, Gudmundur Johannsson

Publikováno v: European Journal of Endocrinology, 186(6), 35-52. Bioscientifica Ltd
Boguszewski, M C S, Boguszewski, C L, Chemaililly, W, Cohen, L E, Gebauer, J, Higham, C, Hoffman, A R, Polak, M, Yuen, K C J, Alos, N, Antal, Z, Bidlingmaier, M, Biller, B M K, Brabant, G, Choong, C S Y, Cianfarani, S, Clayton, P E, Coutant, R, Cardoso-Demartini, A A, Fernandez, A, Grimberg, A, Guðmundsson, K, Guevara-Aquirre, J, Ho, K K Y, Horikawa, R, Isidori, A M, Jørgensen, J O L, Kamenicky, P, Karavitaki, N, Kopchick, J J, Lodish, M, Luo, X, McCormack, A I, Meacham, L, Melmed, S, Mostoufi Moab, S, Müller, H L, Neggers, S J C M M, Aguiar Oliveira, M H, Ozono, K, Pennisi, P A, Popovic, V, Radovick, S, Savendahl, L, Touraine, P, van Santen, H H & Johannsson, G 2022, ' Safety of growth hormone replacement in survivors of cancer and intracranial and pituitary tumours : a consensus statement ', European Journal of Endocrinology, vol. 186, no. 6, pp. P35-P52 . https://doi.org/10.1530/EJE-21-1186

Growth hormone (GH) has been used for over 35 years, and its safety and efficacy has been studied extensively. Experimental studies showing the permissive role of GH/insulin-like growth factor 1 (IGF-I) in carcinogenesis have raised concerns regardin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::656b82066b0d0c11e3dc29a1b649370b
https://hdl.handle.net/2108/313619

Reduced expression of insulin-like growth factor I receptors in MCF-7 breast cancer cells leads to a more metastatic phenotype

Autor: Patricia A, Pennisi, Valarie, Barr, Nomeli P, Nunez, Bethel, Stannard, Derek, Le Roith

Publikováno v: Cancer research. 62(22)

Several lines of evidence support an important role for the insulin-like growth factor system in breast cancer. Alterations in insulin-like growth factor I receptor (IGF-IR) have been associated with breast cancer metastasis; however, the specific ro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::aaabec63238a10b41a935bd31e2a1d88
https://pubmed.ncbi.nlm.nih.gov/12438247