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Select item 107971501.

Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development

Chrysanthi Kouri, Grit Sommer, Idoia Martinez de Lapiscina, Rawda Naamneh Elzenaty, Lloyd J.W. Tack, Martine Cools, S. Faisal Ahmed, Christa E. Flück, SF1next study group

eBioMedicine. 2024 Jan; 99: 104941. Published online 2024 Jan 1. doi: 10.1016/j.ebiom.2023.104941

PMCID:: PMC10797150

Abstract Article PDF–1.5M

Select item 103356842.

Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations

Idoia Martinez de Lapiscina, Chrysanthi Kouri, Josu Aurrekoetxea, Mirian Sanchez, Rawda Naamneh Elzenaty, Kay-Sara Sauter, Núria Camats, Gema Grau, Itxaso Rica, Amaia Rodriguez, Amaia Vela, Alicia Cortazar, Maria Concepción Alonso-Cerezo, Pilar Bahillo, Laura Bertholt, Isabel Esteva, Luis Castaño, Christa E. Flück

PLoS One. 2023; 18(7): e0287515. Published online 2023 Jul 11. doi: 10.1371/journal.pone.0287515

PMCID:: PMC10335684

Abstract Article PDF–1.4M

Select item 99594023.

Steroidogenic Factor 1, a Goldilocks Transcription Factor from Adrenocortical Organogenesis to Malignancy

Lauriane Relav, Mabrouka Doghman-Bouguerra, Carmen Ruggiero, João C. D. Muzzi, Bonald C. Figueiredo, Enzo Lalli

Int J Mol Sci. 2023 Feb; 24(4): 3585. Published online 2023 Feb 10. doi: 10.3390/ijms24043585

PMCID:: PMC9959402

Abstract Article PDF–1.8M

Select item 88164194.

Pubertal development in 46,XY patients with NR5A1 mutations

Isabel Mönig, Julia Schneidewind, Trine H. Johannsen, Anders Juul, Ralf Werner, Ralf Lünstedt, Wiebke Birnbaum, Louise Marshall, Lutz Wünsch, Olaf Hiort

Endocrine. 2022; 75(2): 601–613. Published online 2021 Oct 6. doi: 10.1007/s12020-021-02883-y

PMCID:: PMC8816419

Abstract Article PDF–913K

Select item 70663425.

Overexpression of Nuclear Receptor 5A1 Induces and Maintains an Intermediate State of Conversion between Primed and Naive Pluripotency

Kaori Yamauchi, Tatsuhiko Ikeda, Mihoko Hosokawa, Norio Nakatsuji, Eihachiro Kawase, Shinichiro Chuma, Kouichi Hasegawa, Hirofumi Suemori

Stem Cell Reports. 2020 Mar 10; 14(3): 506–519. Published online 2020 Feb 20. doi: 10.1016/j.stemcr.2020.01.012

PMCID:: PMC7066342

Abstract Article PDF–3.4M

Select item 64921476.

NR5A1 gene variants repress the ovarian‐specific WNT signaling pathway in 46,XX disorders of sex development patients

Ingrid M. Knarston, Gorjana Robevska, Jocelyn A van den Bergen, Stefanie Eggers, Brittany Croft, Jason Yates, Remko Hersmus, Leendert H. J. Looijenga, Fergus J. Cameron, Klaus Monhike, Katie L. Ayers, Andrew H. Sinclair

Hum Mutat. 2019 Feb; 40(2): 207–216. Published online 2018 Nov 30. doi: 10.1002/humu.23672

PMCID:: PMC6492147

Abstract Article PDF–1.2M

Select item 57654307.

Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development

Gorjana Robevska, Jocelyn A. van den Bergen, Thomas Ohnesorg, Stefanie Eggers, Chloe Hanna, Remko Hersmus, Elizabeth M. Thompson, Anne Baxendale, Charles F. Verge, Antony R. Lafferty, Nanis S. Marzuki, Ardy Santosa, Nurin A. Listyasari, Stefan Riedl, Garry Warne, Leendert Looijenga, Sultana Faradz, Katie L. Ayers, Andrew H. Sinclair

Hum Mutat. 2018 Jan; 39(1): 124–139. Published online 2017 Nov 2. doi: 10.1002/humu.23354

PMCID:: PMC5765430

Abstract Article PDF–3.2M

Select item 53479708.

Wide spectrum of NR5A1‐related phenotypes in 46,XY and 46,XX individuals

Sorahia Domenice, Aline Zamboni Machado, Frederico Moraes Ferreira, Bruno Ferraz‐de‐Souza, Antonio Marcondes Lerario, Lin Lin, Mirian Yumie Nishi, Nathalia Lisboa Gomes, Thatiana Evelin da Silva, Rosana Barbosa Silva, Rafaela Vieira Correa, Luciana Ribeiro Montenegro, Amanda Narciso, Elaine Maria Frade Costa, John C Achermann, Berenice Bilharinho Mendonca

Birth Defects Res C Embryo Today. 2016 Dec; 108(4): 309–320. Published online 2016 Dec 29. doi: 10.1002/bdrc.21145

PMCID:: PMC5347970

Abstract Article PDF–486K

Select item 51597469.

Steroidogenic Factor-1 and Human Disease

Ranna El-Khairi, John C. Achermann

Semin Reprod Med. Author manuscript; available in PMC 2016 Dec 16.

Published in final edited form as: Semin Reprod Med. 2012 Oct; 30(5): 374–381. Published online 2012 Oct 8. doi: 10.1055/s-0032-1324720

PMCID:: PMC5159746

Abstract Article PDF–1.0M

Select item 466657210.

Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1

Stefanie Eggers, Katherine R Smith, Melanie Bahlo, Leendert HJ Looijenga, Stenvert LS Drop, Zulfa A Juniarto, Vincent R Harley, Peter Koopman, Sultana MH Faradz, Andrew H Sinclair

Eur J Hum Genet. 2015 Apr; 23(4): 486–493. Published online 2014 Aug 6. doi: 10.1038/ejhg.2014.130

PMCID:: PMC4666572

Abstract Article PDF–1.7M

Select item 421028211.

The signaling phospholipid PIP₃ creates a new interaction surface on the nuclear receptor SF-1

Raymond D. Blind, Elena P. Sablin, Kristopher M. Kuchenbecker, Hsiu-Ju Chiu, Ashley M. Deacon, Debanu Das, Robert J. Fletterick, Holly A. Ingraham

Proc Natl Acad Sci U S A. 2014 Oct 21; 111(42): 15054–15059. Published online 2014 Oct 6. doi: 10.1073/pnas.1416740111

PMCID:: PMC4210282

Abstract Article PDF–1.5M

Select item 400155212.

Testicular differentiation factor SF-1 is required for human spleen development

David Zangen, Yotam Kaufman, Ehud Banne, Ariella Weinberg-Shukron, Abdulsalam Abulibdeh, Benjamin P. Garfinkel, Dima Dweik, Moein Kanaan, Núria Camats, Christa Flück, Paul Renbaum, Ephrat Levy-Lahad

J Clin Invest. 2014 May 1; 124(5): 2071–2075. Published online 2014 Apr 8. doi: 10.1172/JCI73186

PMCID:: PMC4001552

Abstract Article PDF–1.9M

Select item 393641713.

Methylation of a Novel CpG Island of Intron 1 Is Associated With Steroidogenic Factor 1 Expression in Endometriotic Stromal Cells

Qing Xue, Yang Xu, Huixia Yang, Lei Zhang, Jing Shang, Cheng Zeng, Ping Yin, Serdar E. Bulun

Reprod Sci. 2014 Mar; 21(3): 395–400. doi: 10.1177/1933719113497283

PMCID:: PMC3936417

Abstract Article PDF–412K

Select item 378803414.

Screening and Familial Characterization of Copy-Number Variations in NR5A1 in 46,XY Disorders of Sex Development and Premature Ovarian Failure

Steven M. Harrison, Ian M. Campbell, Melise Keays, Candace F. Granberg, Carlos Villanueva, Grace Tannin, Andrew R. Zinn, Diego H. Castrillon, Chad A. Shaw, Paweł Stankiewicz, Linda A. Baker

Am J Med Genet A. Author manuscript; available in PMC 2014 Oct 1.

Published in final edited form as: Am J Med Genet A. 2013 Oct; 161(10): 2487–2494. Published online 2013 Aug 5. doi: 10.1002/ajmg.a.36084

PMCID:: PMC3788034

Abstract Article PDF–1.0M

Select item 374626615.

Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males

Albrecht Röpke, Ann-Christin Tewes, Jörg Gromoll, Sabine Kliesch, Peter Wieacker, Frank Tüttelmann

Eur J Hum Genet. 2013 Sep; 21(9): 1012–1015. Published online 2013 Jan 9. doi: 10.1038/ejhg.2012.290

PMCID:: PMC3746266

Abstract Article PDF–760K

Select item 338134816.

Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations

Sally Tantawy, Lin Lin, Ilker Akkurt, Guntram Borck, Dietrich Klingmüller, Berthold P Hauffa, Heiko Krude, Heike Biebermann, John C Achermann, Birgit Köhler

Eur J Endocrinol. 2012 Jul; 167(1): 125–130. Prepublished online 2012 Feb 17. doi: 10.1530/EJE-11-0944

PMCID:: PMC3381348

Abstract Article PDF–131K

Select item 334314417.

Hypermethylation of the CpG Island Spanning From Exon II to Intron III is Associated With Steroidogenic Factor 1 Expression in Stromal Cells of Endometriosis

Qing Xue, Ying Fang Zhou, Sai Nan Zhu, Serdar E. Bulun

Reprod Sci. 2011 Nov; 18(11): 1080–1084. doi: 10.1177/1933719111404614

PMCID:: PMC3343144

Abstract Article PDF–523K

Select item 319757918.

Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias

Slimane Allali, Jean-Baptiste Muller, Raja Brauner, Diana Lourenço, Radia Boudjenah, Vasiliki Karageorgou, Christine Trivin, Henri Lottmann, Stephen Lortat-Jacob, Claire Nihoul-Fékété, Olivier De Dreuzy, Ken McElreavey, Anu Bashamboo

PLoS One. 2011; 6(10): e24117. Published online 2011 Oct 20. doi: 10.1371/journal.pone.0024117

PMCID:: PMC3197579

Abstract Article PDF–581K

Select item 305735719.

SF-1 in the Ventral Medial Hypothalamic Nucleus: A Key Regulator of Homeostasis

Ki Woo Kim, Jong-Woo Sohn, Daisuke Kohno, Yong Xu, Kevin Williams, Joel K. Elmquist

Mol Cell Endocrinol. Author manuscript; available in PMC 2012 Apr 10.

Published in final edited form as: Mol Cell Endocrinol. 2011 Apr 10; 336(1-2): 219–223. Published online 2010 Nov 24. doi: 10.1016/j.mce.2010.11.019

PMCID:: PMC3057357

Abstract Article PDF–1.0M

Select item 305701720.

Steroidogenic factor-1 (SF-1, NR5A1) and human disease

Bruno Ferraz-de-Souza, Lin Lin, John C. Achermann

Mol Cell Endocrinol. 2011 Apr 10; 336(1-2): 198–205. doi: 10.1016/j.mce.2010.11.006

PMCID:: PMC3057017

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