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Items: 1 to 20 of 25

1.
DMRT1 regulates human germline commitment
Naoko Irie, Sun-Min Lee, Valentina Lorenzi, Haiqi Xu, Jinfeng Chen, Masato Inoue, Toshihiro Kobayashi, Carmen Sancho-Serra, Elena Drousioti, Sabine Dietmann, Roser Vento-Tormo, Chun-Xiao Song, M. Azim Surani
Nat Cell Biol. 2023; 25(10): 1439–1452. Published online 2023 Sep 14. doi: 10.1038/s41556-023-01224-7
PMCID:
PMC10567552
AbstractArticlePDF–18M
2.
Common Genetic Variation and Antidepressant Efficacy in Major Depressive Disorder: A Meta-Analysis of Three Genome-Wide Pharmacogenetic Studies
GENDEP Investigators, Rudolf Uher, Katherine E. Tansey, Marcella Rietschel, Neven Henigsberg, Wolfgang Maier, Ole Mors, Joanna Hauser, Anna Placentino, Daniel Souery, Anne Farmer, Katherine J. Aitchison, Ian Craig, Peter McGuffin, Cathryn M. Lewis, MARS Investigators, Marcus Ising, Susanne Lucae, Elisabeth B. Binder, Stefan Kloiber, Florian Holsboer, Bertram Müller-Myhsok, STAR*D Investigators, Stephan Ripke, Steven P. Hamilton, Jared Soundy, Gonzalo Laje, Francis J. McMahon, Maurizio Fava, A. John Rush, Roy H. Perlis
Am J Psychiatry. Author manuscript; available in PMC 2023 Aug 11.
Published in final edited form as: Am J Psychiatry. 2013 Feb; 170(2): 207–217. doi: 10.1176/appi.ajp.2012.12020237
PMCID:
PMC10416089
AbstractArticlePDF–1.4M
3.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
4.
Impact of cytosine methylation on DNA binding specificities of human transcription factors
Yimeng Yin, Ekaterina Morgunova, Arttu Jolma, Eevi Kaasinen, Biswajyoti Sahu, Syed Khund-Sayeed, Pratyush K. Das, Teemu Kivioja, Kashyap Dave, Fan Zhong, Kazuhiro R. Nitta, Minna Taipale, Alexander Popov, Paul A. Ginno, Silvia Domcke, Jian Yan, Dirk Schübeler, Charles Vinson, Jussi Taipale
Science. Author manuscript; available in PMC 2021 Mar 30.
Published in final edited form as: Science. 2017 May 5; 356(6337): eaaj2239. doi: 10.1126/science.aaj2239
PMCID:
PMC8009048
AbstractArticlePDF–2.6M
5.
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men
Csilla Krausz, Antoni Riera-Escamilla, Daniel Moreno-Mendoza, Kaylee Holleman, Francesca Cioppi, Ferran Algaba, Marc Pybus, Corinna Friedrich, Margot J. Wyrwoll, Elena Casamonti, Sara Pietroforte, Liina Nagirnaja, Alexandra M. Lopes, Sabine Kliesch, Adrian Pilatz, Douglas T. Carrell, Donald F. Conrad, Elisabet Ars, Eduard Ruiz-Castañé, Kenneth I. Aston, Willy M. Baarends, Frank Tüttelmann
Genet Med. Author manuscript; available in PMC 2021 Feb 3.
Published in final edited form as: Genet Med. 2020 Dec; 22(12): 1956–1966. Published online 2020 Aug 3. doi: 10.1038/s41436-020-0907-1
PMCID:
PMC7710580
AbstractArticlePDF–910K
6.
DMRT1 repression using a novel approach to genetic manipulation induces testicular dysgenesis in human fetal gonads
Joni Macdonald, Karen R Kilcoyne, Richard M Sharpe, Áine Kavanagh, Richard A Anderson, Pamela Brown, Lee B Smith, Anne Jørgensen, Rod T Mitchell
Hum Reprod. 2018 Nov; 33(11): 2107–2121. Published online 2018 Sep 29. doi: 10.1093/humrep/dey289
PMCID:
PMC6195803
AbstractArticlePDF–2.0M
7.
Rare DMRT1 regulatory variants in severe spermatogenic failure
Ana Cristina Lima, Filipa Carvalho, João Gonçalves, Susana Fernandes, Patrícia Isabel Marques, Mário Sousa, Alberto Barros, Susana Seixas, António Amorim, Donald Franklin Conrad, Alexandra Manuel Lopes
Andrology. Author manuscript; available in PMC 2016 Sep 1.
Published in final edited form as: Andrology. 2015 Sep; 3(5): 825–833. Published online 2015 Jul 2. doi: 10.1111/andr.12063
PMCID:
PMC4802187
AbstractArticlePDF–676K
8.
Mitochondria represent another locale for the divalent metal transporter 1 (DMT1)
Natascha A Wolff, Laura M Garrick, Lin Zhao, Michael D Garrick, Frank Thévenod
Channels (Austin) 2014 Sep-Oct; 8(5): 458–466. Published online 2014 Oct 31. doi: 10.4161/19336950.2014.956564
PMCID:
PMC4594545
AbstractArticlePDF–849K
9.
An ancient protein-DNA interaction underlying metazoan sex determination
Mark W. Murphy, John K. Lee, Sandra Rojo, Micah D. Gearhart, Kayo Kurahashi, Surajit Banerjee, Guy-André Loeuille, Anu Bashamboo, Kenneth McElreavey, David Zarkower, Hideki Aihara, Vivian J. Bardwell
Nat Struct Mol Biol. Author manuscript; available in PMC 2015 Dec 1.
Published in final edited form as: Nat Struct Mol Biol. 2015 Jun; 22(6): 442–451. Published online 2015 May 25. doi: 10.1038/nsmb.3032
PMCID:
PMC4476070
AbstractArticlePDF–2.6M
10.
Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer
Clare Turnbull, Elizabeth A. Rapley, Sheila Seal, David Pernet, Anthony Renwick, Deborah Hughes, Michelle Ricketts, Rachel Linger, Jeremie Nsengimana, Panagiotis Deloukas, The UK Testicular Cancer Collaboration, Robert A. Huddart, D Timothy Bishop, Douglas F. Easton, Michael R. Stratton, Nazneen Rahman
Nat Genet. Author manuscript; available in PMC 2013 Sep 16.
Published in final edited form as: Nat Genet. 2010 Jul; 42(7): 604–607. Published online 2010 Jun 13. doi: 10.1038/ng.607
PMCID:
PMC3773909
AbstractArticlePDF–261K
11.
Meta-analysis identifies four new loci associated with testicular germ cell tumor
Charles C. Chung, Peter A. Kanetsky, Zhaoming Wang, Michelle A. T. Hildebrandt, Roelof Koster, Rolf I. Skotheim, Christian P. Kratz, Clare Turnbull, Victoria K. Cortessis, Anne C. Bakken, D. Timothy Bishop, Michael B. Cook, R. Loren Erickson, Sophie D. Fosså, Kevin B. Jacobs, Larissa A. Korde, Sigrid M. Kraggerud, Ragnhild A. Lothe, Jennifer T. Loud, Nazneen Rahman, Eila C. Skinner, Duncan C. Thomas, Xifeng Wu, Meredith Yeager, Fredrick R. Schumacher, Mark H. Greene, Stephen M. Schwartz, Katherine A. McGlynn, Stephen J. Chanock, Katherine L. Nathanson
Nat Genet. Author manuscript; available in PMC 2013 Dec 1.
Published in final edited form as: Nat Genet. 2013 Jun; 45(6): 680–685. Published online 2013 May 12. doi: 10.1038/ng.2634
PMCID:
PMC3723930
AbstractArticlePDF–1.0M
12.
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14
Elise Ruark, Sheila Seal, Heather McDonald, Feng Zhang, Anna Elliot, KingWai Lau, Elizabeth Perdeaux, Elizabeth Rapley, Rosalind Eeles, Julian Peto, Zsofia Kote-Jarai, Kenneth Muir, Jeremie Nsengimana, Janet Shipley, UKTCC, D. Timothy Bishop, Michael R Stratton, Douglas F Easton, Robert A Huddart, Nazneen Rahman, Clare Turnbull
Nat Genet. Author manuscript; available in PMC 2013 Dec 1.
Published in final edited form as: Nat Genet. 2013 Jun; 45(6): 10.1038/ng.2635. Published online 2013 May 12. doi: 10.1038/ng.2635
PMCID:
PMC3680037
AbstractArticlePDF–246K
13.
Interaction between DMRT1 function and genetic background modulates signaling and pluripotency to control tumor susceptibility in the fetal germ line
Anthony D. Krentz, Mark W. Murphy, Teng Zhang, Aaron L. Sarver, Sanjay Jain, Michael D. Griswold, Vivian J. Bardwell, David Zarkower
Dev Biol. Author manuscript; available in PMC 2014 May 1.
Published in final edited form as: Dev Biol. 2013 May 1; 377(1): 67–78. Published online 2013 Mar 6. doi: 10.1016/j.ydbio.2013.02.014
PMCID:
PMC3630265
AbstractArticlePDF–2.3M
14.
Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1
Alexandra M. Lopes, Kenneth I. Aston, Emma Thompson, Filipa Carvalho, João Gonçalves, Ni Huang, Rune Matthiesen, Michiel J. Noordam, Inés Quintela, Avinash Ramu, Catarina Seabra, Amy B. Wilfert, Juncheng Dai, Jonathan M. Downie, Susana Fernandes, Xuejiang Guo, Jiahao Sha, António Amorim, Alberto Barros, Angel Carracedo, Zhibin Hu, Matthew E. Hurles, Sergey Moskovtsev, Carole Ober, Darius A. Paduch, Joshua D. Schiffman, Peter N. Schlegel, Mário Sousa, Douglas T. Carrell, Donald F. Conrad
PLoS Genet. 2013 Mar; 9(3): e1003349. Published online 2013 Mar 21. doi: 10.1371/journal.pgen.1003349
PMCID:
PMC3605256
AbstractArticlePDF–968K
15.
Novel Genetic Loci Identified for the Pathophysiology of Childhood Obesity in the Hispanic Population
Anthony G. Comuzzie, Shelley A. Cole, Sandra L. Laston, V. Saroja Voruganti, Karin Haack, Richard A. Gibbs, Nancy F. Butte
PLoS One. 2012; 7(12): e51954. Published online 2012 Dec 14. doi: 10.1371/journal.pone.0051954
PMCID:
PMC3522587
AbstractArticlePDF–130K
16.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
17.
Variants in or near KITLG, BAK1, DMRT1, and TERT-CLPTM1L predispose to familial testicular germ cell tumour
Christian P Kratz, Summer S Han, Philip S Rosenberg, Sonja I Berndt, Laurie Burdett, Meredith Yeager, Larissa A Korde, Phuong L Mai, Ruth Pfeiffer, Mark H Greene
J Med Genet. Author manuscript; available in PMC 2012 Jul 1.
Published in final edited form as: J Med Genet. 2011 Jul; 48(7): 473–476. Published online 2011 May 26. doi: 10.1136/jmedgenet-2011-100001
PMCID:
PMC3131696
AbstractArticlePDF–732K
18.
A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility
Peter A. Kanetsky, Nandita Mitra, Saran Vardhanabhuti, David J. Vaughn, Mingyao Li, Stephanie L. Ciosek, Richard Letrero, Kurt D'Andrea, Madhavi Vaddi, David R. Doody, JoEllen Weaver, Chu Chen, Jacqueline R. Starr, Håkon Håkonarson, Daniel J. Rader, Andrew K. Godwin, Muredach P. Reilly, Stephen M. Schwartz, Katherine L. Nathanson
Hum Mol Genet. 2011 Aug 1; 20(15): 3109–3117. Published online 2011 May 6. doi: 10.1093/hmg/ddr207
PMCID:
PMC3131044
AbstractArticlePDF–222K
19.
Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score
Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl
Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159
Correction in:
Mol Med. 2012; 18(1): 729.
PMCID:
PMC2896464
AbstractArticlePDF–2.4M
20.
An atlas of combinatorial transcriptional regulation in mouse and man
The FANTOM consortium and RIKEN Omics Science Center
Cell. Author manuscript; available in PMC 2011 Mar 5.
Published in final edited form as: Cell. 2010 Mar 5; 140(5): 744–752. doi: 10.1016/j.cell.2010.01.044
Correction in:
volume 141 on page 369
PMCID:
PMC2836267
AbstractArticlePDF–2.2M

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