Literature DB >> 28317102

A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb.

T Ohnesorg1, J A van den Bergen1, D Belluoccio2, N Shankara-Narayana3,4, A-M Kean3, A Vasilaras3, L Ewans5,6, K L Ayers1,7, A H Sinclair1,7.   

Abstract

A custom CGH microarray that covers the SOX9 regulatory region. Log2 ratio scatterplot showing individual data points. Blue box highlights copy number gain with 3' breakpoint region magnified.
© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Entities:  

Keywords:  zzm321990SOX9zzm321990; disorders of sex development; enhancer; gonads; testis; transcriptional regulation

Mesh：

Substances：

Year:  2017        PMID： 28317102     DOI： 10.1111/cge.12976

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  11 in total

Review 1.  Cis-Regulatory Control of Mammalian Sex Determination.

Authors:  Meshi Ridnik; Stefan Schoenfelder; Nitzan Gonen
Journal:  Sex Dev       Date:  2021-10-28       Impact factor: 1.824

2.  Decreased expression of microRNA-145 promotes the biological functions of fibroblasts in hypertrophic scar tissues by upregulating the expression of transcription factor SOX-9.

Authors:  Shoujie Wang; Caiyun Li; Yijia Yu; Jianjun Qiao
Journal:  Exp Ther Med       Date:  2019-09-05       Impact factor: 2.447

Review 3.  Male Hypogonadism and Disorders of Sex Development.

Authors:  Romina P Grinspon; Ignacio Bergadá; Rodolfo A Rey
Journal:  Front Endocrinol (Lausanne)       Date:  2020-04-15       Impact factor: 5.555

Review 4.  Molecular Characterization of XX Maleness.

Authors:  Romina P Grinspon; Rodolfo A Rey
Journal:  Int J Mol Sci       Date:  2019-12-03       Impact factor: 5.923

Review 5.  Diverse Regulation but Conserved Function: SOX9 in Vertebrate Sex Determination.

Authors:  Brittany Vining; Zhenhua Ming; Stefan Bagheri-Fam; Vincent Harley
Journal:  Genes (Basel)       Date:  2021-03-26       Impact factor: 4.096

6.  Painful ovulation in a 46,XX SRY -ve adult male with SOX9 duplication.

Authors:  Nandini Shankara Narayana; Anne-Maree Kean; Lisa Ewans; Thomas Ohnesorg; Katie L Ayers; Geoff Watson; Arthur Vasilaras; Andrew H Sinclair; Stephen M Twigg; David J Handelsman
Journal:  Endocrinol Diabetes Metab Case Rep       Date:  2017-06-07

7.  Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.

Authors:  Anu Bashamboo; Caroline Eozenou; Anne Jorgensen; Joelle Bignon-Topalovic; Jean-Pierre Siffroi; Capucine Hyon; Attila Tar; Péter Nagy; Janos Sólyom; Zita Halász; Annnabel Paye-Jaouen; Sophie Lambert; David Rodriguez-Buritica; Rita Bertalan; Laetitia Martinerie; Ewa Rajpert-De Meyts; John C Achermann; Ken McElreavey
Journal:  Am J Hum Genet       Date:  2018-02-22       Impact factor: 11.025

8.  XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris).

Authors:  Vicki N Meyers-Wallen; Adam R Boyko; Charles G Danko; Jennifer K Grenier; Jason G Mezey; Jessica J Hayward; Laura M Shannon; Chuan Gao; Afrah Shafquat; Edward J Rice; Shashikant Pujar; Stefanie Eggers; Thomas Ohnesorg; Andrew H Sinclair
Journal:  PLoS One       Date:  2017-10-20       Impact factor: 3.240

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

Authors:  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
Journal:  Hum Mutat       Date:  2018-11-30       Impact factor: 4.878

10.  A Duplication Upstream of SOX9 Associated with SRY Negative 46,XX Ovotesticular Disorder of Sex Development: A Case Report

Authors:  Eda Mengen; Gülsüm Kayhan; Pınar Kocaay; Seyit Ahmet Uçaktürk
Journal:  J Clin Res Pediatr Endocrinol       Date:  2019-09-03
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