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Select item 105675521.

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

Abstract Article PDF–18M

Select item 77105802.

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

Abstract Article PDF–910K

Select item 61958033.

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

Abstract Article PDF–2.0M

Select item 48021874.

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

Abstract Article PDF–676K

Select item 45945455.

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

Abstract Article PDF–849K

Select item 36052566.

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

Abstract Article PDF–968K

Select item 31310447.

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

Abstract Article PDF–222K

Select item 44760708.

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

Abstract Article PDF–2.6M

Select item 31316969.

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

Abstract Article PDF–732K

Select item 31699910.

Dmrt1, a gene related to worm and fly sexual regulators, is required for mammalian testis differentiation

Christopher S. Raymond, Mark W. Murphy, M. Gerard O'Sullivan, Vivian J. Bardwell, David Zarkower

Genes Dev. 2000 Oct 15; 14(20): 2587–2595. doi: 10.1101/gad.834100

PMCID:: PMC316999

Abstract Article PDF–8.1M

Select item 377390911.

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

Abstract Article PDF–261K

Select item 368003712.

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

Abstract Article PDF–246K

Select item 372393013.

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

Abstract Article PDF–1.0M

Select item 363026514.

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

Abstract Article PDF–2.3M

Select item 279972415.

The DM domain protein DMRT1 is a dose-sensitive regulator of fetal germ cell proliferation and pluripotency

Anthony D. Krentz, Mark W. Murphy, Shinseog Kim, Matthew S. Cook, Blanche Capel, Rui Zhu, Angabin Matin, Aaron L. Sarver, Keith L. Parker, Michael D. Griswold, Leendert H. J. Looijenga, Vivian J. Bardwell, David Zarkower

Proc Natl Acad Sci U S A. 2009 Dec 29; 106(52): 22323–22328. Published online 2009 Dec 10. doi: 10.1073/pnas.0905431106

PMCID:: PMC2799724

Abstract Article PDF–1.8M

Select item 1041608916.

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

Abstract Article PDF–1.4M

Select item 273408117.

DNA sequence and analysis of human chromosome 9

S. J. Humphray, K. Oliver, A. R. Hunt, R. W. Plumb, J. E. Loveland, K. L. Howe, T. D. Andrews, S. Searle, S. E. Hunt, C. E. Scott, M. C. Jones, R. Ainscough, J. P. Almeida, K. D. Ambrose, R. I. S. Ashwell, A. K. Babbage, S. Babbage, C. L. Bagguley, J. Bailey, R. Banerjee, D. J. Barker, K. F. Barlow, K. Bates, H. Beasley, O. Beasley, C. P. Bird, S. Bray-Allen, A. J. Brown, J. Y. Brown, D. Burford, W. Burrill, J. Burton, C. Carder, N. P. Carter, J. C. Chapman, Y. Chen, G. Clarke, S. Y. Clark, C. M. Clee, S. Clegg, R. E. Collier, N. Corby, M. Crosier, A. T. Cummings, J. Davies, P. Dhami, M. Dunn, I. Dutta, L. W. Dyer, M. E. Earthrowl, L. Faulkner, C. J. Fleming, A. Frankish, J. A. Frankland, L. French, D. G. Fricker, P. Garner, J. Garnett, J. Ghori, J. G. R. Gilbert, C. Glison, D. V. Grafham, S. Gribble, C. Griffiths, S. Griffiths-Jones, R. Grocock, J. Guy, R. E. Hall, S. Hammond, J. L. Harley, E. S. I. Harrison, E. A. Hart, P. D. Heath, C. D. Henderson, B. L. Hopkins, P. J. Howard, P. J. Howden, E. Huckle, C. Johnson, D. Johnson, A. A. Joy, M. Kay, S. Keenan, J. K. Kershaw, A. M. Kimberley, A. King, A. Knights, G. K. Laird, C. Langford, S. Lawlor, D. A. Leongamornlert, M. Leversha, C. Lloyd, D. M. Lloyd, J. Lovell, S. Martin, M. Mashreghi-Mohammadi, L. Matthews, S. McLaren, K. E. McLay, A. McMurray, S. Milne, T. Nickerson, J. Nisbett, G. Nordsiek, A. V. Pearce, A. I. Peck, K. M. Porter, R. Pandian, S. Pelan, B. Phillimore, S. Povey, Y. Ramsey, V. Rand, M. Scharfe, H. K. Sehra, R. Shownkeen, S. K. Sims, C. D. Skuce, M. Smith, C. A. Steward, D. Swarbreck, N. Sycamore, J. Tester, A. Thorpe, A. Tracey, A. Tromans, D. W. Thomas, M. Wall, J. M. Wallis, A. P. West, S. L. Whitehead, D. L. Willey, S. A. Williams, L. Wilming, P. W. Wray, L. Young, J. L. Ashurst, A. Coulson, H. Blöcker, R. Durbin, J. E. Sulston, T. Hubbard, M. J. Jackson, D. R. Bentley, S. Beck, J. Rogers, I. Dunham

Nature. Author manuscript; available in PMC 2009 Aug 28.

Published in final edited form as: Nature. 2004 May 27; 429(6990): 369–374. doi: 10.1038/nature02465

PMCID:: PMC2734081

Abstract Article PDF–1006K

Select item 800904818.

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

Abstract Article PDF–2.6M

Select item 352258719.

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

Abstract Article PDF–130K

Select item 283626720.

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

Abstract Article PDF–2.2M

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