Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 65

1.

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

Meyers-Wallen VN, Boyko AR, Danko CG, Grenier JK, Mezey JG, Hayward JJ, Shannon LM, Gao C, Shafquat A, Rice EJ, Pujar S, Eggers S, Ohnesorg T, Sinclair AH.

PLoS One. 2017 Oct 20;12(10):e0186331. doi: 10.1371/journal.pone.0186331. eCollection 2017.

2.

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

Shankara Narayana N, Kean AM, Ewans L, Ohnesorg T, Ayers KL, Watson G, Vasilaras A, Sinclair AH, Twigg SM, Handelsman DJ.

Endocrinol Diabetes Metab Case Rep. 2017 Jun 7;2017. pii: 17-0045. doi: 10.1530/EDM-17-0045. eCollection 2017.

3.

In mammalian foetal testes, SOX9 regulates expression of its target genes by binding to genomic regions with conserved signatures.

Rahmoun M, Lavery R, Laurent-Chaballier S, Bellora N, Philip GK, Rossitto M, Symon A, Pailhoux E, Cammas F, Chung J, Bagheri-Fam S, Murphy M, Bardwell V, Zarkower D, Boizet-Bonhoure B, Clair P, Harley VR, Poulat F.

Nucleic Acids Res. 2017 Jul 7;45(12):7191-7211. doi: 10.1093/nar/gkx328.

4.

In Vivo Characterization of an AHR-Dependent Long Noncoding RNA Required for Proper Sox9b Expression.

Garcia GR, Goodale BC, Wiley MW, La Du JK, Hendrix DA, Tanguay RL.

Mol Pharmacol. 2017 Jun;91(6):609-619. doi: 10.1124/mol.117.108233. Epub 2017 Apr 6.

5.

Sex determination and maintenance: the role of DMRT1 and FOXL2.

Huang S, Ye L, Chen H.

Asian J Androl. 2017 Nov-Dec;19(6):619-624. doi: 10.4103/1008-682X.194420. Review.

6.

Normal Levels of Sox9 Expression in the Developing Mouse Testis Depend on the TES/TESCO Enhancer, but This Does Not Act Alone.

Gonen N, Quinn A, O'Neill HC, Koopman P, Lovell-Badge R.

PLoS Genet. 2017 Jan 3;13(1):e1006520. doi: 10.1371/journal.pgen.1006520. eCollection 2017 Jan. Erratum in: PLoS Genet. 2017 Feb 1;13(2):e1006584.

7.

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH.

Genome Biol. 2016 Nov 29;17(1):243.

8.

Recent findings on the genetics of disorders of sex development.

Kremen J, Chan YM, Swartz JM.

Curr Opin Urol. 2017 Jan;27(1):1-6. Review.

9.

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

Baetens D, Stoop H, Peelman F, Todeschini AL, Rosseel T, Coppieters F, Veitia RA, Looijenga LH, De Baere E, Cools M.

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

10.

Sry-Independent Overexpression of Sox9 Supports Spermatogenesis and Fertility in the Mouse.

Ortega EA, Ruthig VA, Ward MA.

Biol Reprod. 2015 Dec;93(6):141. doi: 10.1095/biolreprod.115.135400. Epub 2015 Nov 4.

11.

A duplication upstream of SOX9 was not positively correlated with the SRY‑negative 46,XX testicular disorder of sex development: A case report and literature review.

Xia XY, Zhang C, Li TF, Wu QY, Li N, Li WW, Cui YX, Li XJ, Shi YC.

Mol Med Rep. 2015 Oct;12(4):5659-64. doi: 10.3892/mmr.2015.4202. Epub 2015 Aug 10.

12.

Gonadal Identity in the Absence of Pro-Testis Factor SOX9 and Pro-Ovary Factor Beta-Catenin in Mice.

Nicol B, Yao HH.

Biol Reprod. 2015 Aug;93(2):35. doi: 10.1095/biolreprod.115.131276. Epub 2015 Jun 24.

13.

46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing.

Werner R, Merz H, Birnbaum W, Marshall L, Schröder T, Reiz B, Kavran JM, Bäumer T, Capetian P, Hiort O.

J Clin Endocrinol Metab. 2015 Jul;100(7):E1022-9. doi: 10.1210/jc.2015-1314. Epub 2015 Apr 30.

14.

The versatile functions of Sox9 in development, stem cells, and human diseases.

Jo A, Denduluri S, Zhang B, Wang Z, Yin L, Yan Z, Kang R, Shi LL, Mok J, Lee MJ, Haydon RC.

Genes Dis. 2014 Dec;1(2):149-161.

15.

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

Vetro A, Dehghani MR, Kraoua L, Giorda R, Beri S, Cardarelli L, Merico M, Manolakos E, Parada-Bustamante A, Castro A, Radi O, Camerino G, Brusco A, Sabaghian M, Sofocleous C, Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Grammatico P, Giglio S, Basly M, Chaabouni M, Carella M, Russo G, Bonaglia MC, Zuffardi O.

Eur J Hum Genet. 2015 Aug;23(8):1025-32. doi: 10.1038/ejhg.2014.237. Epub 2014 Nov 5.

16.

Mutations in the testis-specific enhancer of SOX9 in the SRY independent sex-determining mechanism in the genus Tokudaia.

Kimura R, Murata C, Kuroki Y, Kuroiwa A.

PLoS One. 2014 Sep 29;9(9):e108779. doi: 10.1371/journal.pone.0108779. eCollection 2014.

17.

Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.

Laino L, Majore S, Preziosi N, Grammatico B, De Bernardo C, Scommegna S, Rapone AM, Marrocco G, Bottillo I, Grammatico P.

Endocr Connect. 2014 Dec;3(4):180-92. doi: 10.1530/EC-14-0085. Epub 2014 Sep 23.

18.

DSDs: genetics, underlying pathologies and psychosexual differentiation.

Arboleda VA, Sandberg DE, Vilain E.

Nat Rev Endocrinol. 2014 Oct;10(10):603-15. doi: 10.1038/nrendo.2014.130. Epub 2014 Aug 5. Review.

19.

A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication.

Lee GM, Ko JM, Shin CH, Yang SW.

Ann Pediatr Endocrinol Metab. 2014 Jun;19(2):108-12. doi: 10.6065/apem.2014.19.2.108. Epub 2014 Jun 30.

20.

Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs.

Rossi E, Radi O, De Lorenzi L, Vetro A, Groppetti D, Bigliardi E, Luvoni GC, Rota A, Camerino G, Zuffardi O, Parma P.

PLoS One. 2014 Jul 10;9(7):e101244. doi: 10.1371/journal.pone.0101244. eCollection 2014.

Supplemental Content

Support Center