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Select item 53925981.

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

Dorien Baetens, Hans Stoop, Frank Peelman, Anne-Laure Todeschini, Toon Rosseel, Frauke Coppieters, Reiner A. Veitia, Leendert H.J. Looijenga, Elfride De Baere, Martine Cools

Genet Med. 2017 Apr; 19(4): 367–376. Published online 2016 Aug 4. doi: 10.1038/gim.2016.118

PMCID:: PMC5392598

Abstract Article PDF–2.9M

Select item 53885692.

A 46,XX ovotesticular disorder of sex development likely caused by a SF-1 (NR5A1) variant

Jonathan M Swartz, Ryan Ciarlo, Michael H Guo, Aser Abrha, Benjamin Weaver, David A Diamond, Yee-Ming Chan, Joel N Hirschhorn

Horm Res Paediatr. Author manuscript; available in PMC 2018 Jan 1.

Published in final edited form as: Horm Res Paediatr. 2017; 87(3): 191–195. Published online 2016 Nov 18. doi: 10.1159/000452888

PMCID:: PMC5388569

Abstract Article PDF–759K

Select item 51799413.

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

Anu Bashamboo, Patricia A. Donohoue, Eric Vilain, Sandra Rojo, Pierre Calvel, Sumudu N. Seneviratne, Federica Buonocore, Hayk Barseghyan, Nathan Bingham, Jill A. Rosenfeld, Surya Narayan Mulukutla, Mahim Jain, Lindsay Burrage, Shweta Dhar, Ashok Balasubramanyam, Brendan Lee, Members of UDN, Marie-Charlotte Dumargne, Caroline Eozenou, Jenifer P. Suntharalingham, KSH de Silva, Lin Lin, Joelle Bignon-Topalovic, Francis Poulat, Carlos F. Lagos, Ken McElreavey, John C. Achermann

Hum Mol Genet. 2016 Aug 15; 25(16): 3446–3453. Published online 2016 Jul 4. doi: 10.1093/hmg/ddw186

Correction in:: Hum Mol Genet. 2016 Dec 1; 25(23): 5286.

PMCID:: PMC5179941

Abstract Article PDF–658K

Select item 39006684.

The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency

Helena Campos Fabbri, Juliana Gabriel Ribeiro de Andrade, Fernanda Caroline Soardi, Flávia Leme de Calais, Reginaldo José Petroli, Andréa Trevas Maciel-Guerra, Gil Guerra-Júnior, Maricilda Palandi de Mello

BMC Med Genet. 2014; 15: 7. Published online 2014 Jan 10. doi: 10.1186/1471-2350-15-7

PMCID:: PMC3900668

Abstract Article PDF–2.2M

Select item 37083625.

cAMP-stimulated transcription of DGKθ requires steroidogenic factor 1 and sterol regulatory element binding protein 1

Kai Cai, Marion B. Sewer

J Lipid Res. 2013 Aug; 54(8): 2121–2132. doi: 10.1194/jlr.M035634

PMCID:: PMC3708362

Abstract Article PDF–1.0M

Select item 36301316.

Scavenger Receptors Mediate the Role of SUMO and Ftz-f1 in Drosophila Steroidogenesis

Ana Talamillo, Leire Herboso, Lucia Pirone, Coralia Pérez, Monika González, Jonatan Sánchez, Ugo Mayor, Fernando Lopitz-Otsoa, Manuel S. Rodriguez, James D. Sutherland, Rosa Barrio

PLoS Genet. 2013 Apr; 9(4): e1003473. Published online 2013 Apr 18. doi: 10.1371/journal.pgen.1003473

PMCID:: PMC3630131

Abstract Article PDF–26M

Select item 31979157.

Upstream Stimulatory Factor Induces Nr5a1 and Shbg Gene Expression During the Onset of Rat Sertoli Cell Differentiation

Michelle A. Wood, Priya Mukherjee, Corey A. Toocheck, William H. Walker

Biol Reprod. 2011 Nov; 85(5): 965–976. Published online 2011 Jul 6. doi: 10.1095/biolreprod.111.093013

PMCID:: PMC3197915

Abstract Article PDF–618K

Select item 31780598.

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

Abstract Article PDF–1.0M

Select item 31775669.

Antagonistic regulation of Cyp26b1 by transcription factors SOX9/SF1 and FOXL2 during gonadal development in mice

Kenichi Kashimada, Terje Svingen, Chun-Wei Feng, Emanuele Pelosi, Stefan Bagheri-Fam, Vincent R. Harley, David Schlessinger, Josephine Bowles, Peter Koopman

FASEB J. 2011 Oct; 25(10): 3561–3569. doi: 10.1096/fj.11-184333

PMCID:: PMC3177566

Abstract Article

Select item 315748110.

Eliminating SF-1 (NR5A1) Sumoylation In Vivo Results in Ectopic Hedgehog Signaling and Disruption of Endocrine Development

Florence Y. Lee, Emily J. Faivre, Miyuki Suzawa, Erik Lontok, Daniel Ebert, Fang Cai, Denise D. Belsham, Holly A. Ingraham

Dev Cell. Author manuscript; available in PMC 2012 Aug 16.

Published in final edited form as: Dev Cell. 2011 Aug 16; 21(2): 315–327. Published online 2011 Aug 4. doi: 10.1016/j.devcel.2011.06.028

PMCID:: PMC3157481

Abstract Article PDF–5.4M

Select item 310021711.

Novel markers of early ovarian pre-granulosa cells are expressed in an Sry-like pattern

Hyunjoo J. Lee, Dorothy E. Pazin, Ravi S. Kahlon, Stephanie M. Correa, Kenneth H. Albrecht

Dev Dyn. Author manuscript; available in PMC 2011 May 23.

Published in final edited form as: Dev Dyn. 2009 Apr; 238(4): 812–825. doi: 10.1002/dvdy.21902

PMCID:: PMC3100217

Abstract Article PDF–1.7M

Select item 305589912.

Failure of SOX9 Regulation in 46XY Disorders of Sex Development with SRY, SOX9 and SF1 Mutations

Kevin C. Knower, Sabine Kelly, Louisa M. Ludbrook, Stefan Bagheri-Fam, Helena Sim, Pascal Bernard, Ryohei Sekido, Robin Lovell-Badge, Vincent R. Harley

PLoS One. 2011; 6(3): e17751. Published online 2011 Mar 11. doi: 10.1371/journal.pone.0017751

PMCID:: PMC3055899

Abstract Article PDF–660K

Select item 293317313.

Nuclear Factor Y and Steroidogenic Factor 1 Physically and Functionally Interact to Contribute to Cell-Specific Expression of the Mouse Follicle-Stimulating Hormone-β Gene

Suzanne B. R. Jacobs, Djurdjica Coss, Shauna M. McGillivray, Pamela L. Mellon

Mol Endocrinol. Author manuscript; available in PMC 2010 Sep 3.

Published in final edited form as: Mol Endocrinol. 2003 Aug; 17(8): 1470–1483. Published online 2003 May 1. doi: 10.1210/me.2002-0286

PMCID:: PMC2933173

Abstract Article PDF–926K

Select item 282078514.

Farnesoid X Receptor, through the Binding with Steroidogenic Factor 1-responsive Element, Inhibits Aromatase Expression in Tumor Leydig Cells

Stefania Catalano, Rocco Malivindi, Cinzia Giordano, Guowei Gu, Salvatore Panza, Daniela Bonofiglio, Marilena Lanzino, Diego Sisci, Maria Luisa Panno, Sebastiano Andò

J Biol Chem. 2010 Feb 19; 285(8): 5581–5593. Published online 2009 Dec 21. doi: 10.1074/jbc.M109.052670

PMCID:: PMC2820785

Abstract Article PDF–2.4M

Select item 275372515.

Transcriptional activity of the murine retinol binding protein gene is regulated by a multiprotein complex containing HMGA1, p54nrb/NonO, protein-associated splicing factor (PSF) and steroidogenic factor 1 (SF1)/liver receptor homologue 1 (LRH-1)

Adriana Bianconcini, Angelo Lupo, Silvana Capone, Loredana Quadro, Maria Monti, Diana Zurlo, Alessandra Fucci, Lina Sabatino, Antonio Brunetti, Eusebio Chiefari, Max E. Gottesman, William S. Blaner, Vittorio Colantuoni

Int J Biochem Cell Biol. Author manuscript; available in PMC 2010 Nov 1.

Published in final edited form as: Int J Biochem Cell Biol. 2009 Nov; 41(11): 2189–2203. Published online 2009 Apr 21. doi: 10.1016/j.biocel.2009.04.011