Zobrazeno 1 - 10
of 194
pro vyhledávání: '"Margus Punab"'
Autor:
Ravinder Anand-Ivell, Kee Heng, Leen Antonio, Gyorgy Bartfai, Felipe F. Casanueva, Mario Maggi, Terence W. O’Neill, Margus Punab, Giulia Rastrelli, Jolanta Slowikowska-Hilczer, Jos Tournoy, Dirk Vanderschueren, Frederick CW. Wu, Ilpo T. Huhtaniemi, Richard Ivell
Publikováno v:
The Aging Male, Vol 27, Iss 1 (2024)
AbstractInsulin-like peptide 3 (INSL3) is a circulating biomarker for Leydig cell functional capacity in men, also indicating Leydig Cell Insufficiency (LCI) and potential primary hypogonadism. Using results from large cohort studies we explore sourc
Externí odkaz:
https://doaj.org/article/f078b0006c6046e2b1a396c779d2c83f
Autor:
Seema D. Sharma, Michael J. Cook, Leen Antonio, Evelien Gielen, Gyorgy Bartfai, Felipe F. Casanueva, Ilpo T. Huhtaniemi, Mario Maggi, Margus Punab, Giulia Rastrelli, Jolanta Slowikowska-Hilczer, Jos Tournoy, Dirk Vanderschueren, Frederick C. Wu, Terence W. O’Neill
Publikováno v:
BMC Geriatrics, Vol 23, Iss 1, Pp 1-9 (2023)
Abstract Background Previous studies have suggested an association between sleep disturbance and frailty. The mechanism is unknown, although it has been suggested that hormonal factors may play a role. Methods The aim was to determine the association
Externí odkaz:
https://doaj.org/article/325d43a6b453497192433e12ffa4edf3
Autor:
Anna-Grete Juchnewitsch, Kristjan Pomm, Avirup Dutta, Erik Tamp, Anu Valkna, Kristiina Lillepea, Eisa Mahyari, Stanislav Tjagur, Galina Belova, Viljo Kübarsepp, Helen Castillo-Madeen, Antoni Riera-Escamilla, Lisanna Põlluaas, Liina Nagirnaja, Olev Poolamets, Vladimir Vihljajev, Mailis Sütt, Nassim Versbraegen, Sofia Papadimitriou, Robert I. McLachlan, Keith A. Jarvi, Peter N. Schlegel, Sven Tennisberg, Paul Korrovits, Katinka Vigh-Conrad, Moira K. O’Bryan, Kenneth I. Aston, Tom Lenaerts, Donald F. Conrad, Laura Kasak, Margus Punab, Maris Laan
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
RASopathies are syndromes caused by congenital defects in the Ras/mitogen-activated protein kinase (MAPK) pathway genes, with a population prevalence of 1 in 1,000. Patients are typically identified in childhood based on diverse characteristic featur
Externí odkaz:
https://doaj.org/article/a5a26794d89e45529badd269302ae0fc
Autor:
Nadjia Amini, Jolan Dupont, Laurence Lapauw, Laura Vercauteren, Leen Antonio, Terence W. O'Neill, Dirk Vanderschueren, Neil Pendleton, Giulia Rastrelli, Mario Maggi, Felipe F. Casanueva, Jolanta Słowikowska‐Hilczer, Margus Punab, Ilpo T. Huhtaniemi, Frederick C.W. Wu, Sabine Verschueren, Jos Tournoy, Evelien Gielen
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 14, Iss 3, Pp 1520-1532 (2023)
Abstract Background Previous research suggests that sarcopenia is associated with lower cognitive functioning. Evidence on the longitudinal relationship between cognition and sarcopenia, according to the revised criteria of the European Working Group
Externí odkaz:
https://doaj.org/article/2ca32f3b587a4034b55ba734a3f31de4
Autor:
Ann-Kristin Dicke, Adrian Pilatz, Margot J. Wyrwoll, Margus Punab, Christian Ruckert, Liina Nagirnaja, Kenneth I. Aston, Donald F. Conrad, Sara Di Persio, Nina Neuhaus, Daniela Fietz, Maris Laan, Birgit Stallmeyer, Frank Tüttelmann
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-7 (2023)
Analysing genetic data from 1,655 men with non-obstructive azoospermia (NOA) reveals four independent loss-of-function variants in DDX3Y, suggesting that it is a key gene in the AZFa region and should be considered in diagnostic workflows for NOA.
Externí odkaz:
https://doaj.org/article/b6fc71cd78ac4af686a3f5be73425dc6
Autor:
Triin Kikas, Anna Maria Punab, Laura Kasak, Olev Poolamets, Vladimir Vihljajev, Kristjan Pomm, Mario Reiman, Stanislav Tjagur, Paul Korrovits, Margus Punab, Maris Laan
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Data on the clinical validity of DNA copy number variants (CNVs) in spermatogenic failure (SPGF) is limited. This study analyzed the genome-wide CNV profile in 215 men with idiopathic SPGF and 62 normozoospermic fertile men, recruited at the
Externí odkaz:
https://doaj.org/article/9474f93be7174ceebcfd86f6f9a6c362
Autor:
Liina Nagirnaja, Alexandra M. Lopes, Wu-Lin Charng, Brian Miller, Rytis Stakaitis, Ieva Golubickaite, Alexandra Stendahl, Tianpengcheng Luan, Corinna Friedrich, Eisa Mahyari, Eloise Fadial, Laura Kasak, Katinka Vigh-Conrad, Manon S. Oud, Miguel J. Xavier, Samuel R. Cheers, Emma R. James, Jingtao Guo, Timothy G. Jenkins, Antoni Riera-Escamilla, Alberto Barros, Filipa Carvalho, Susana Fernandes, João Gonçalves, Christina A. Gurnett, Niels Jørgensen, Davor Jezek, Emily S. Jungheim, Sabine Kliesch, Robert I. McLachlan, Kenan R. Omurtag, Adrian Pilatz, Jay I. Sandlow, James Smith, Michael L. Eisenberg, James M. Hotaling, Keith A. Jarvi, Margus Punab, Ewa Rajpert-De Meyts, Douglas T. Carrell, Csilla Krausz, Maris Laan, Moira K. O’Bryan, Peter N. Schlegel, Frank Tüttelmann, Joris A. Veltman, Kristian Almstrup, Kenneth I. Aston, Donald F. Conrad
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
The GEMINI consortium sequenced 1,000 cases of idiopathic male infertility and identified a plausible Mendelian cause in 20% of cases. The infertility genes can be grouped by expression pattern, facilitating their interpretation and follow-up.
Externí odkaz:
https://doaj.org/article/d33757f275f346459883626f17daf68f
Autor:
Jolan Dupont, Leen Antonio, Lenore Dedeyne, Terence W. O'Neill, Dirk Vanderschueren, Giulia Rastrelli, Mario Maggi, György Bártfai, Felipe F. Casanueva, Aleksander Giwercman, Jolanta Słowikowska‐Hilczer, Margus Punab, Ilpo T. Huhtaniemi, Frederick C.W. Wu, Jos Tournoy, Katrien Koppo, Evelien Gielen
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 12, Iss 6, Pp 1818-1831 (2021)
Abstract Background Age‐related chronic low‐grade inflammation (inflammaging) is one of the proposed mechanisms behind sarcopenia. However, findings regarding inflammatory markers in sarcopenic older adults are conflicting. This study aimed to de
Externí odkaz:
https://doaj.org/article/205a4cd7861e42fa8a0c90556815a593
Autor:
Richard Ivell, Kee Heng, Katie Severn, Leen Antonio, Gyorgy Bartfai, Felipe F. Casanueva, Ilpo T. Huhtaniemi, Aleksander Giwercman, Mario Maggi, Daryl B. O’Connor, Terence W. O’Neill, Margus Punab, Giulia Rastrelli, Jolanta Slowikowska-Hilczer, Jos Tournoy, Dirk Vanderschueren, Frederick C. W. Wu, Ravinder Anand-Ivell
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
BackgroundInsulin-like peptide 3 (INSL3) is a constitutive hormone secreted in men by the mature Leydig cells of the testes. It is an accurate biomarker for Leydig cell functional capacity, reflecting their total cell number and differentiation statu
Externí odkaz:
https://doaj.org/article/9827f7c591bb40f0b21cc1259e706eb3
Autor:
Pille Hallast, Laura Kibena, Margus Punab, Elena Arciero, Siiri Rootsi, Marina Grigorova, Rodrigo Flores, Mark A Jobling, Olev Poolamets, Kristjan Pomm, Paul Korrovits, Kristiina Rull, Yali Xue, Chris Tyler-Smith, Maris Laan
Publikováno v:
eLife, Vol 10 (2021)
Male infertility is a prevalent condition, affecting 5–10% of men. So far, few genetic factors have been described as contributors to spermatogenic failure. Here, we report the first re-sequencing study of the Y-chromosomal Azoospermia Factor c (AZ
Externí odkaz:
https://doaj.org/article/8edcf883b35d416381d5dc683d243d22