Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Miguel J. Xavier"'
Autor:
Birgit Stallmeyer, Clara Bühlmann, Rytis Stakaitis, Ann-Kristin Dicke, Farah Ghieh, Luisa Meier, Ansgar Zoch, David MacKenzie MacLeod, Johanna Steingröver, Özlem Okutman, Daniela Fietz, Adrian Pilatz, Antoni Riera-Escamilla, Miguel J. Xavier, Christian Ruckert, Sara Di Persio, Nina Neuhaus, Ali Sami Gurbuz, Ahmet Şalvarci, Nicolas Le May, Kevin McEleny, Corinna Friedrich, Godfried van der Heijden, Margot J. Wyrwoll, Sabine Kliesch, Joris A. Veltman, Csilla Krausz, Stéphane Viville, Donald F. Conrad, Dónal O’Carroll, Frank Tüttelmann
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract piRNAs are crucial for transposon silencing, germ cell maturation, and fertility in male mice. Here, we report on the genetic landscape of piRNA dysfunction in humans and present 39 infertile men carrying biallelic variants in 14 different p
Externí odkaz:
https://doaj.org/article/f298226160c54693a03e5498d577cfea
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:
Natalie A. Trigg, David A. Skerrett-Byrne, Miguel J. Xavier, Wei Zhou, Amanda L. Anderson, Simone J. Stanger, Aimee L. Katen, Geoffry N. De Iuliis, Matthew D. Dun, Shaun D. Roman, Andrew L. Eamens, Brett Nixon
Publikováno v:
Cell Reports, Vol 37, Iss 1, Pp 109787- (2021)
Summary: Paternal exposure to environmental stressors elicits distinct changes to the sperm sncRNA profile, modifications that have significant post-fertilization consequences. Despite this knowledge, there remains limited mechanistic understanding o
Externí odkaz:
https://doaj.org/article/f8d0c118265e452d8c695225b5375140
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:
Antoni Riera-Escamilla, Matthias Vockel, Liina Nagirnaja, Miguel J. Xavier, Albert Carbonell, Daniel Moreno-Mendoza, Marc Pybus, Ginevra Farnetani, Viktoria Rosta, Francesca Cioppi, Corinna Friedrich, Manon S. Oud, Godfried W. van der Heijden, Armin Soave, Thorsten Diemer, Elisabet Ars, Josvany Sánchez-Curbelo, Sabine Kliesch, Moira K. O’Bryan, Eduard Ruiz-Castañe, Fernando Azorín, Joris A. Veltman, Kenneth I. Aston, Donald F. Conrad, Frank Tüttelmann, Csilla Krausz
Publikováno v:
American Journal of Human Genetics, 109, 1458-1471
American Journal of Human Genetics, 109, 8, pp. 1458-1471
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Am J Hum Genet
American Journal of Human Genetics, 109, 8, pp. 1458-1471
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Am J Hum Genet
Although the evolutionary history of the X chromosome indicates its specialization in male fitness, its role in spermatogenesis has largely been unexplored. Currently only three X chromosome genes are considered of moderate-definitive diagnostic valu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b161d8ffe4e99ebcb9376fce2f507b0
http://hdl.handle.net/2066/282690
http://hdl.handle.net/2066/282690
Publikováno v:
Human Reproduction. 34:1876-1890
STUDY QUESTION Do all regions of the paternal genome within the gamete display equivalent vulnerability to oxidative DNA damage? SUMMARY ANSWER Oxidative DNA damage is not randomly distributed in mature human spermatozoa but is instead targeted, with
Autor:
Wei Zhou, Miguel J. Xavier, Simone J. Stanger, Shaun D. Roman, Aimee L. Katen, Matthew D. Dun, Amanda L. Anderson, Natalie A. Trigg, Andrew L. Eamens, Brett Nixon, David A. Skerrett-Byrne, Geoffry N. De Iuliis
Publikováno v:
Cell Reports, Vol 37, Iss 1, Pp 109787-(2021)
Summary: Paternal exposure to environmental stressors elicits distinct changes to the sperm sncRNA profile, modifications that have significant post-fertilization consequences. Despite this knowledge, there remains limited mechanistic understanding o
Publikováno v:
Reproduction. 156:269-282
The Big Blue λSelect-cII selection system has been employed along with whole-exome sequencing to examine the susceptibility of the male germ line to mutation in two challenging situations (i) exposure to a chemotherapeutic regime including bleomycin
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
Autor:
Miguel J Xavier, Michael J Williams
Publikováno v:
PLoS ONE, Vol 6, Iss 5, p e19504 (2011)
BACKGROUND: When the parasitoid wasp Leptopilina boulardi lays an egg in a Drosophila larva, phagocytic cells called plasmatocytes and specialized cells known as lamellocytes encapsulate the egg. The Drosophila β-integrin Myospheroid (Mys) is necess
Externí odkaz:
https://doaj.org/article/27373aaf56a7469b970c56abaa2b2b6a