Zobrazeno 1 - 10
of 173
pro vyhledávání: '"Kenneth I. Aston"'
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
Publikováno v:
Clinical Epigenetics, Vol 15, Iss 1, Pp 1-14 (2023)
Abstract Background As the average age of fatherhood increases worldwide, so too does the need for understanding effects of aging in male germline cells. Molecular change, including epigenomic alterations, may impact offspring. Age-associated change
Externí odkaz:
https://doaj.org/article/5cc65ef36d3240949518b3115a3923b6
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:
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:
Ryan H. Miller, Chad A. Pollard, Kristin R. Brogaard, Andrew C. Olson, Ryan C. Barney, Larry I. Lipshultz, Erica B. Johnstone, Yetunde O. Ibrahim, James M. Hotaling, Enrique F. Schisterman, Sunni L. Mumford, Kenneth I. Aston, Tim G. Jenkins
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Complex diseases have multifactorial etiologies making actionable diagnostic biomarkers difficult to identify. Diagnostic research must expand beyond single or a handful of genetic or epigenetic targets for complex disease and explore a broader syste
Externí odkaz:
https://doaj.org/article/6e1d0276f1c64a5d961d442447b3049f
Autor:
Timothy G. Jenkins, Emma R. James, Kenneth I. Aston, Albert Salas-Huetos, Alexander W. Pastuszak, Ken R. Smith, Heidi A. Hanson, James M. Hotaling, Douglas T. Carrell
Publikováno v:
Epigenetics & Chromatin, Vol 12, Iss 1, Pp 1-8 (2019)
Abstract Background The impact of aging on the sperm methylome is well understood. However, the direct, subsequent impact on offspring and the role of altered sperm DNA methylation alterations in this process remain poorly understood. The well-define
Externí odkaz:
https://doaj.org/article/c2a6e9ae51154ee19c83b06868000d33
Autor:
Arthur S. Lee, Jannette Rusch, Ana C. Lima, Abul Usmani, Ni Huang, Maarja Lepamets, Katinka A. Vigh-Conrad, Ronald E. Worthington, Reedik Mägi, Xiaobo Wu, Kenneth I. Aston, John P. Atkinson, Douglas T. Carrell, Rex A. Hess, Moira K. O’Bryan, Donald F. Conrad
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Many molecular and physiological mechanisms in the regulation of fertility are shared between female and male mammals. Here, Lee et al. report an association of CNVs in CSMD1 with early idiopathic menopause in women and show that loss of Csmd1 leads
Externí odkaz:
https://doaj.org/article/60cd321fd0b3463ab76d53b0cfcb3f9d
Publikováno v:
BMC Genomics, Vol 19, Iss 1, Pp 1-10 (2018)
Abstract Background The relationship between aging and epigenetic profiles has been highlighted in many recent studies. Models using somatic cell methylomes to predict age have been successfully constructed. However, gamete aging is quite distinct an
Externí odkaz:
https://doaj.org/article/c58070fa31ea4fc9ab1487f52d896a4e
Autor:
Renske M. Verweij, Melinda C. Mills, Gert Stulp, Ilja M. Nolte, Nicola Barban, Felix C. Tropf, Douglas T. Carrell, Kenneth I. Aston, Krina T. Zondervan, Nilufer Rahmioglu, Marlene Dalgaard, Carina Skaarup, M. Geoffrey Hayes, Andrea Dunaif, Guang Guo, Harold Snieder
Publikováno v:
Frontiers in Sociology, Vol 4 (2019)
Biological, genetic, and socio-demographic factors are all important in explaining reproductive behavior, yet these factors are typically studied in isolation. In this study, we explore an innovative sociogenomic approach, which entails including key
Externí odkaz:
https://doaj.org/article/f9bdd78222304447b44073c11aa6dc5d
Autor:
Emma R. James, Douglas T. Carrell, Kenneth I. Aston, Timothy G. Jenkins, Marc Yeste, Albert Salas-Huetos
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 15, p 5377 (2020)
It is well-established that testicular spermatozoa are immature and acquire motility and fertilization capabilities during transit throughout the epididymis. The epididymis is a duct-like organ that connects the testis to the vas deferens and is comp
Externí odkaz:
https://doaj.org/article/9ff74c0322a14adf924e8bff2d00e5cc