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Select item 109526011.

FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination

Brittany Croft, Anthony D. Bird, Makoto Ono, Stefanie Eggers, Stefan Bagheri‐Fam, Janelle M. Ryan, Alejandra P. Reyes, Jocelyn van den Bergen, Anne Baxendale, Elizabeth M. Thompson, Andrew J. Kueh, Peter Stanton, Tim Thomas, Andrew H. Sinclair, Vincent R. Harley

Clin Genet. 2023 Mar; 103(3): 277–287. Published online 2022 Nov 28. doi: 10.1111/cge.14261

PMCID:: PMC10952601

Article PDF–6.9M

Select item 82957402.

A Novel Intronic Splice—Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development

Pawel Matusik, Agnieszka Gach, Olimpia Zajdel-Cwynar, Iwona Pinkier, Grzegorz Kudela, Aneta Gawlik

Int J Environ Res Public Health. 2021 Jul; 18(13): 7186. Published online 2021 Jul 5. doi: 10.3390/ijerph18137186

PMCID:: PMC8295740

Article PDF–1.5M

Select item 81026033.

High elevation increases the risk of Y chromosome loss in Alpine skink populations with sex reversal

Duminda S. B. Dissanayake, Clare E. Holleley, Janine E. Deakin, Arthur Georges

Heredity (Edinb) 2021 May; 126(5): 805–816. Published online 2021 Feb 1. doi: 10.1038/s41437-021-00406-z

PMCID:: PMC8102603

Article PDF–1.3M

Select item 72171794.

Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1‐related syndrome

Peer Arts, Jessica Garland, Alicia B. Byrne, Tristan S.E. Hardy, Milena Babic, Jinghua Feng, Paul Wang, Thuong Ha, Sarah L. King‐Smith, Andreas W. Schreiber, April Crawford, Nick Manton, Lynette Moore, Christopher P. Barnett, Hamish S. Scott

Am J Med Genet A. 2020 May; 182(5): 1273–1277. Published online 2020 Mar 6. doi: 10.1002/ajmg.a.61541

PMCID:: PMC7217179

Article PDF–5.3M

Select item 60346505.

Sex reversal following deletion of a single far upstream enhancer of Sox9

Nitzan Gonen, Chris R Futtner, Sophie Wood, S. Alexandra Garcia-Moreno, Isabella M Salamone, Shiela C Samson, Ryohei Sekido, Francis Poulat, Danielle M Maatouk, Robin Lovell-Badge

Science. Author manuscript; available in PMC 2018 Dec 29.

Published in final edited form as: Science. 2018 Jun 29; 360(6396): 1469–1473. Published online 2018 Jun 14. doi: 10.1126/science.aas9408

PMCID:: PMC6034650

Article PDF–1.6M

Select item 57896826.

Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y^POS mouse model

Hayk Barseghyan, Aleisha Symon, Mariam Zadikyan, Miguel Almalvez, Eva E. Segura, Ascia Eskin, Matthew S. Bramble, Valerie A. Arboleda, Ruth Baxter, Stanley F. Nelson, Emmanuèle C. Délot, Vincent Harley, Eric Vilain

Biol Sex Differ. 2018; 9: 8. Published online 2018 Jan 30. doi: 10.1186/s13293-018-0167-9

PMCID:: PMC5789682

Article PDF–2.8M

Select item 50168957.

Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene

Johanna Känsäkoski, Jarmo Jääskeläinen, Tiina Jääskeläinen, Johanna Tommiska, Lilli Saarinen, Rainer Lehtonen, Sampsa Hautaniemi, Mikko J. Frilander, Jorma J. Palvimo, Jorma Toppari, Taneli Raivio

Sci Rep. 2016; 6: 32819. Published online 2016 Sep 9. doi: 10.1038/srep32819

PMCID:: PMC5016895

Article PDF–781K

Select item 45684968.

Direct production of XY^DMY− sex reversal female medaka (Oryzias latipes) by embryo microinjection of TALENs

Daji Luo, Yun Liu, Ji Chen, Xiaoqin Xia, Mengxi Cao, Bin Cheng, Xuejuan Wang, Wuming Gong, Chao Qiu, Yunsheng Zhang, Christopher Hon Ki Cheng, Zuoyan Zhu, Wei Hu

Sci Rep. 2015; 5: 14057. Published online 2015 Sep 14. doi: 10.1038/srep14057

PMCID:: PMC4568496

Article PDF–2.4M

Select item 40015529.

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

Article PDF–1.9M

Select item 359629110.

Gadd45g Is Essential for Primary Sex Determination, Male Fertility and Testis Development

Heiko Johnen, Laura González-Silva, Laura Carramolino, Juana Maria Flores, Miguel Torres, Jesús M. Salvador

PLoS One. 2013; 8(3): e58751. Published online 2013 Mar 13. doi: 10.1371/journal.pone.0058751

PMCID:: PMC3596291

Article PDF–735K

Select item 352677911.

Gadd45γ and Map3k4 Interactions Regulate Mouse Testis Determination via p38 MAPK-Mediated Control of Sry Expression

Nick Warr, Gwenn-Aël Carre, Pam Siggers, Jessica Vitos Faleato, Rachel Brixey, Madeleine Pope, Debora Bogani, Melissa Childers, Sara Wells, Cheryl L. Scudamore, Marianna Tedesco, Ivan del Barco Barrantes, Angel R. Nebreda, Paul A. Trainor, Andy Greenfield

Dev Cell. 2012 Nov 13; 23(5): 1020–1031. doi: 10.1016/j.devcel.2012.09.016

PMCID:: PMC3526779

Article

Select item 319607212.

Mammalian Testis-determining Factor SRY and the Enigma of Inherited Human Sex Reversal: FRUSTRATED INDUCED FIT IN A BENT PROTEIN-DNA COMPLEX

Nelson B. Phillips, Joseph Racca, Yen-Shan Chen, Rupinder Singh, Agnes Jancso-Radek, James T. Radek, Nalinda P. Wickramasinghe, Elisha Haas, Michael A. Weiss

J Biol Chem. 2011 Oct 21; 286(42): 36787–36807. Published online 2011 Aug 17. doi: 10.1074/jbc.M111.260091

PMCID:: PMC3196072

Article PDF–3.7M

Select item 308692713.

Minor Abnormalities of Testis Development in Mice Lacking the Gene Encoding the MAPK Signalling Component, MAP3K1

Nick Warr, Debora Bogani, Pam Siggers, Rachel Brixey, Hilda Tateossian, Asha Dopplapudi, Sara Wells, Michael Cheeseman, Ying Xia, Harry Ostrer, Andy Greenfield

PLoS One. 2011; 6(5): e19572. Published online 2011 May 3. doi: 10.1371/journal.pone.0019572

PMCID:: PMC3086927

Article PDF–2.0M

Select item 268099214.

Ovaries and Female Phenotype in a Girl with 46,XY Karyotype and Mutations in the CBX2 Gene

Anna Biason-Lauber, Daniel Konrad, Monika Meyer, Carine deBeaufort, Eugen J. Schoenle

Am J Hum Genet. 2009 May 15; 84(5): 658–663. doi: 10.1016/j.ajhg.2009.03.016

PMCID:: PMC2680992

Article PDF–494K

Select item 180136815.

Mutations in SOX9, the Gene Responsible for Campomelic Dysplasia and Autosomal Sex Reversal

Cheni Kwok, Polly A. Weller, Silvana Guioli, Jamie W. Foster, Sahar Mansour, Orsetta Zuffardi, Hope H. Punnett, Marina A. Dominguez-Steglich, J. David Brook, Ian D. Young, Peter N. Goodfellow, Alan J. Schafer

Am J Hum Genet. 1995 Nov; 57(5): 1028–1036.

PMCID:: PMC1801368

Summary Page Browse PDF–1.7M

Select item 105063116.

Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects.

C Kwok, C Tyler-Smith, B B Mendonca, I Hughes, G D Berkovitz, P N Goodfellow, J R Hawkins

J Med Genet. 1996 Jun; 33(6): 465–468. doi: 10.1136/jmg.33.6.465

PMCID:: PMC1050631

Summary Page Browse PDF–796K

Select item 101376417.

X-Y translocation in a retarded phenotypic male. Clinical, cytogenetic, biochemical, and serogenetic studies.

R Bernstein, J Wagner, J Isdale, G T Nurse, A B Lane, T Jenkins

J Med Genet. 1978 Dec; 15(6): 466–474. doi: 10.1136/jmg.15.6.466

PMCID:: PMC1013764

Summary Page Browse PDF–2.3M

Select item 1107659318.

Complete male-to-female sex reversal in XY mice lacking the miR-17~92 cluster

Alicia Hurtado, Irene Mota-Gómez, Miguel Lao, Francisca M. Real, Johanna Jedamzick, Miguel Burgos, Darío G. Lupiáñez, Rafael Jiménez, Francisco J. Barrionuevo

Nat Commun. 2024; 15: 3809. Published online 2024 May 7. doi: 10.1038/s41467-024-47658-x