Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Manon S. Oud"'
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:
Brendan J. Houston, Manon S. Oud, Daniel M. Aguirre, D. Jo Merriner, Anne E. O’Connor, Ozlem Okutman, Stéphane Viville, Richard Burke, Joris A. Veltman, Moira K. O’Bryan
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 10, Iss 12, Pp 4449-4457 (2020)
Externí odkaz:
https://doaj.org/article/a7a59dd16d164fee95bf95fa6b6d41d2
Autor:
Lucia A. Torres-Fernández, Jana Emich, Yasmine Port, Sibylle Mitschka, Marius Wöste, Simon Schneider, Daniela Fietz, Manon S. Oud, Sara Di Persio, Nina Neuhaus, Sabine Kliesch, Michael Hölzel, Hubert Schorle, Corinna Friedrich, Frank Tüttelmann, Waldemar Kolanus
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Mutations affecting the germline can result in infertility or the generation of germ cell tumors (GCT), highlighting the need to identify and characterize the genes controlling germ cell development. The RNA-binding protein and E3 ubiquitin ligase TR
Externí odkaz:
https://doaj.org/article/bbb96f35293748e18f3b5a151fccdc44
Autor:
Verena Höffken, Sara Di Persio, Sandra Laurentino, Margot J. Wyrwoll, Nicole Terwort, Anke Hermann, Albrecht Röpke, Manon S. Oud, Joachim Wistuba, Sabine Kliesch, Hermann J. Pavenstädt, Frank Tüttelmann, Nina Neuhaus, Joachim Kremerskothen
Publikováno v:
The Faseb Journal, 37, 5
The Faseb Journal, 37
The Faseb Journal, 37
Contains fulltext : 292362.pdf (Publisher’s version ) (Open Access) The family of WWC proteins is known to regulate cell proliferation and organ growth control via the Hippo signaling pathway. As WWC proteins share a similar domain structure and a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed3019aff9315e714035150bbd0a5276
https://hdl.handle.net/2066/292362
https://hdl.handle.net/2066/292362
Autor:
Kim Joana Westerich, Solveig Reinecke, Jana Emich, Margot Julia Wyrwoll, Birgit Stallmeyer, Matthias Meyer, Manon S Oud, Daniela Fietz, Adrian Pilatz, Sabine Kliesch, Michal Reichman-Fried, Katsiaryna Tarbashevich, Tamara Limon, Martin Stehling, Corinna Friedrich, Frank Tüttelmann, Erez Raz
Publikováno v:
Human Reproduction, 38, 4, pp. 655-670
Human Reproduction, 38, 655-670
Human Reproduction, 38, 655-670
STUDY QUESTION Is the vertebrate protein Dead end (DND1) a causative factor for human infertility and can novel in vivo assays in zebrafish help in evaluating this? SUMMARY ANSWER Combining patient genetic data with functional in vivo assays in zebra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fceda312b080345bfe04c0174612b8e9
https://repository.ubn.ru.nl/handle/2066/291758
https://repository.ubn.ru.nl/handle/2066/291758
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e19849cbef0f22dba41c28b5331a1f00
https://doi.org/10.1093/humupd/dmab030
https://doi.org/10.1093/humupd/dmab030
Autor:
Jana Emich, Avinash S. Gaikwad, Birgit Stallmeyer, Daniela Fietz, Hans-Christian Schuppe, Manon S. Oud, Sabine Kliesch, Jörg Gromoll, Corinna Friedrich, Frank Tüttelmann
Publikováno v:
Fertility and Sterility, 119, 2, pp. 219-228
Fertility and Sterility, 119, 219-228
Fertility and Sterility, 119, 219-228
To study the impact of Doublesex and mab-3-related transcription factor 1 (DMRT1) gene variants on the encoded protein's function and the variants' pathogenic relevance for isolated male infertility caused by azoospermia.This study established a nove
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c4168580af6f26907d3ed2dedfe850a
https://pubmed.ncbi.nlm.nih.gov/36572623
https://pubmed.ncbi.nlm.nih.gov/36572623
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b28d06724b7f000a35e3361fb2466c6
https://doi.org/10.1056/nejmoa2028973
https://doi.org/10.1056/nejmoa2028973
Autor:
Richard Burke, Manon S. Oud, Anne E O'Connor, Ozlem Okutman, Daniel M Aguirre, Brendan J Houston, Moira K O'Bryan, Stéphane Viville, Joris A. Veltman, D. Jo Merriner
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 10, Iss 12, Pp 4449-4457 (2020)
G3: Genes|Genomes|Genetics
G3, 10, 12, pp. 4449-4457
G3, 10, 4449-4457
G3: Genes|Genomes|Genetics
G3, 10, 12, pp. 4449-4457
G3, 10, 4449-4457
Contains fulltext : 229297.pdf (Publisher’s version ) (Open Access) Globozoospermia is a rare form of male infertility where men produce round-headed sperm that are incapable of fertilizing an oocyte naturally. In a previous study where we undertoo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a573b79ccd2dc2c5880ae5bc2edccd1
http://g3journal.org/lookup/doi/10.1534/g3.120.401714
http://g3journal.org/lookup/doi/10.1534/g3.120.401714
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