Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Kenneth I. Aston"'
Autor:
Albert Salas-Huetos, Frank Tüttelmann, Antoni Riera-Escamilla, Kenneth I. Aston, Moira K O'Bryan, Miguel J. Xavier, Corinna Friedrich, Joris A. Veltman, Brendan J Houston, Margot J. Wyrwoll, Liina Nagirnaja, Manon S. Oud, Donald F. Conrad, Csilla Krausz
Publikováno v:
Human Reproduction Update
BACKGROUND Human male infertility has a notable genetic component, including well-established diagnoses such as Klinefelter syndrome, Y-chromosome microdeletions and monogenic causes. Approximately 4% of all infertile men are now diagnosed with a gen
Autor:
Liina Nagirnaja, Kristian Almstrup, Sofia B. Winge, Donald F. Conrad, Kenneth I. Aston, Filipa Carvalho, Peter N. Schlegel, Nina Mørup, Niels E. Skakkebæk, Alexandra M. Lopes, Niels Jørgensen, C. Joana Marques, Francesca Khani, Ieva Golubickaite, John E. Nielsen, Manon S. Oud, Ewa Rajpert-De Meyts, Joris A. Veltman, Rytis Stakaitis, Godfried W. van der Heijden
Publikováno v:
The New England Journal of Medicine, 385, 707-719
Nagirnaja, L, Mørup, N, Nielsen, J E, Stakaitis, R, Golubickaite, I, Oud, M S, Winge, S B, Carvalho, F, Aston, K I, Khani, F, Van Der Heijden, G W, Marques, C J, Skakkebaek, N E, Rajpert–de Meyts, E, Schlegel, P N, Jørgensen, N, Veltman, J A, Lopes, A M, Conrad, D F & Almstrup, K 2021, ' Variant PNLDC1, Defective piRNA Processing, and Azoospermia ', New England Journal of Medicine, vol. 385, no. 8, pp. 707-719 . https://doi.org/10.1056/NEJMoa2028973
The New England Journal of Medicine, 385, 8, pp. 707-719
Nagirnaja, L, Mørup, N, Nielsen, J E, Stakaitis, R, Golubickaite, I, Oud, M S, Winge, S B, Carvalho, F, Aston, K I, Khani, F, Van Der Heijden, G W, Marques, C J, Skakkebaek, N E, Rajpert–de Meyts, E, Schlegel, P N, Jørgensen, N, Veltman, J A, Lopes, A M, Conrad, D F & Almstrup, K 2021, ' Variant PNLDC1, Defective piRNA Processing, and Azoospermia ', New England Journal of Medicine, vol. 385, no. 8, pp. 707-719 . https://doi.org/10.1056/NEJMoa2028973
The New England Journal of Medicine, 385, 8, pp. 707-719
Item does not contain fulltext BACKGROUND: P-element-induced wimpy testis (PIWI)-interacting RNAs (piRNAs) are short (21 to 35 nucleotides in length) and noncoding and are found almost exclusively in germ cells, where they regulate aberrant expressio
Autor:
James M. Hotaling, Steven E. Boyden, Frank Tüttelmann, Alexandra M. Lopes, Marius Wöste, Albert Salas-Huetos, Sabine Kliesch, Donald F. Conrad, Margot J. Wyrwoll, Douglas T. Carrell, Kenneth I. Aston, João Gonçalves, Liina Nagirnaja
Publikováno v:
Hum Genet
HUMAN GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
HUMAN GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
GEMINI Consortium: Donald F Conrad, Kenneth I Aston, Douglas T Carrell, James M Hotaling, Liina Nagirnaja, Timothy G Jenkins, Moira K O'Bryan, Rob McLachlan, Peter N Schlegel, Michael L Eisenberg, Jay I Sandlow, James F Smith, Puneet Kamal, Carole Ob
Autor:
Darshan P. Patel, Alexander W. Pastuszak, Jingtao Guo, James M. Hotaling, Heidi A. Hanson, Kenneth I. Aston, Timothy G. Jenkins
Publikováno v:
Fertil Steril
The complexity of male reproductive impairment has hampered characterization of the underlying genetic causes of male infertility. However, in the last 20 years, more powerful and affordable tools to interrogate the genetic and epigenetic determinant
Autor:
Frank Tüttelmann, Csilla Krausz, Sabine Kliesch, Alexandra M. Lopes, Willy M. Baarends, Daniel Moreno-Mendoza, Donald F. Conrad, Douglas T. Carrell, Corinna Friedrich, Antoni Riera-Escamilla, Margot J. Wyrwoll, Kenneth I. Aston, Sara Pietroforte, Francesca Cioppi, Kaylee Holleman, Eduard Ruiz-Castañé, Ferran Algaba, Elisabet Ars, Adrian Pilatz, Marc Pybus, Elena Casamonti, Liina Nagirnaja
Publikováno v:
Genetics in Medicine, 22(12), 1956-1966. Lippincott Williams & Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics
GENETICS IN MEDICINE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
Genetics in medicine : official journal of the American College of Medical Genetics
GENETICS IN MEDICINE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
Purpose Azoospermia affects 1% of men and it can be the consequence of spermatogenic maturation arrest (MA). Although the etiology of MA is likely to be of genetic origin, only 13 genes have been reported as recurrent potential causes of MA. Methods
Autor:
Timothy G. Jenkins, Albert Salas-Huetos, Emma R. James, Marc Yeste, Kenneth I. Aston, Douglas T. Carrell
Publikováno v:
Europe PubMed Central
Background The presence of miRNAs in human reproductive tissue is intriguing and suggests the possibility that these important regulatory molecules play a role in reproductive function. However, the regulatory role of miRNAs in reproductive tissue re
Autor:
Abul Usmani, John P. Atkinson, Douglas T. Carrell, Moira K O'Bryan, Arthur Lee, Donald F. Conrad, Katinka A. Vigh-Conrad, Xiaobo Wu, Ronald E. Worthington, Ana C. Lima, Maarja Lepamets, Rex A. Hess, Kenneth I. Aston, Ni Huang, Jannette Rusch, Reedik Mägi
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Nature Communications
Nature Communications
Infertility in men and women is a complex genetic trait with shared biological bases between the sexes. Here, we perform a series of rare variant analyses across 73,185 women and men to identify genes that contribute to primary gonadal dysfunction. W
Comparative single-cell analysis of biopsies clarifies pathogenic mechanisms in Klinefelter syndrome
Autor:
Jingtao Guo, Katinka Vigh-Conrad, Donald F. Conrad, Nicole B. Rockweiler, Eisa Mahyari, Ana C. Lima, Liina Nagirnaja, James M. Hotaling, Daniel P. Lewinsohn, Douglas T. Carrell, Xichen Nie, Kenneth I. Aston, Alexandra M. Stendahl
Publikováno v:
Am J Hum Genet
Summary Klinefelter syndrome (KS), also known as 47, XXY, is characterized by a distinct set of physiological abnormalities, commonly including infertility. The molecular basis for Klinefelter-related infertility is still unclear, largely because of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9089d7cc3ef8dd2c1fe01fa98c6c1c59
https://europepmc.org/articles/PMC8546046/
https://europepmc.org/articles/PMC8546046/
Autor:
Kenneth I. Aston, Albert Salas-Huetos
Publikováno v:
Transl Androl Urol
Male infertility is a common and complex disease, manifesting as a wide range of phenotypes, ranging from apparently normal semen parameters with an inexplicable inability to conceive, to the complete absence of sperm production. The diversity of mal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a5d61f118a37f9805d370beecedfe30
https://europepmc.org/articles/PMC8039605/
https://europepmc.org/articles/PMC8039605/
Autor:
P de Vries, E Schaafsma, L. E. L. M. Vissers, Simon Cockell, Mauro Santibanez-Koref, Christian Gilissen, Miguel J. Xavier, Sabine Kliesch, Harsh Sheth, G S Holt, Frank Tüttelmann, Gdn Astuti, Jonathan Coxhead, Moira K O'Bryan, GW van der Heijden, Corinna Friedrich, Helen Turner, Brendan J Houston, Kathrin Fleischer, Antoni Riera-Escamilla, Joris A. Veltman, Kenneth I. Aston, Aneta Mikulasova, H Ismail, David J. Elliott, L. Ramos, Kevin McEleny, HE Smith, Liina Nagirnaja, Csilla Krausz, J Greenwood, Roos M. Smits, Francesco K. Mastrorosa, Bks Alobaidi, Claudia Gonzaga-Jauregui, LE Batty, Kwm D’Hauwers, D.D.M. Braat, Donald F. Conrad, Oud
IntroductionDe novo mutations (DNMs) are known to play a prominent role in sporadic disorders with reduced fitness1. We hypothesize that DNMs play an important role in male infertility and explain a significant fraction of the genetic causes of this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b25224d79980a7a76f4c1d8e08942fba
https://doi.org/10.1101/2021.02.27.433155
https://doi.org/10.1101/2021.02.27.433155