414 related articles for article (PubMed ID: 25604083)
1. Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.
Kim GJ; Sock E; Buchberger A; Just W; Denzer F; Hoepffner W; German J; Cole T; Mann J; Seguin JH; Zipf W; Costigan C; Schmiady H; Rostásy M; Kramer M; Kaltenbach S; Rösler B; Georg I; Troppmann E; Teichmann AC; Salfelder A; Widholz SA; Wieacker P; Hiort O; Camerino G; Radi O; Wegner M; Arnold HH; Scherer G
J Med Genet; 2015 Apr; 52(4):240-7. PubMed ID: 25604083
[TBL] [Abstract][Full Text] [Related]
2. Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.
Benko S; Gordon CT; Mallet D; Sreenivasan R; Thauvin-Robinet C; Brendehaug A; Thomas S; Bruland O; David M; Nicolino M; Labalme A; Sanlaville D; Callier P; Malan V; Huet F; Molven A; Dijoud F; Munnich A; Faivre L; Amiel J; Harley V; Houge G; Morel Y; Lyonnet S
J Med Genet; 2011 Dec; 48(12):825-30. PubMed ID: 22051515
[TBL] [Abstract][Full Text] [Related]
3. Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).
Hyon C; Chantot-Bastaraud S; Harbuz R; Bhouri R; Perrot N; Peycelon M; Sibony M; Rojo S; Piguel X; Bilan F; Gilbert-Dussardier B; Kitzis A; McElreavey K; Siffroi JP; Bashamboo A
Am J Med Genet A; 2015 Aug; 167A(8):1851-8. PubMed ID: 25900885
[TBL] [Abstract][Full Text] [Related]
4. Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9.
Croft B; Ohnesorg T; Hewitt J; Bowles J; Quinn A; Tan J; Corbin V; Pelosi E; van den Bergen J; Sreenivasan R; Knarston I; Robevska G; Vu DC; Hutson J; Harley V; Ayers K; Koopman P; Sinclair A
Nat Commun; 2018 Dec; 9(1):5319. PubMed ID: 30552336
[TBL] [Abstract][Full Text] [Related]
5. Investigation of mutations in the SRY, SOX9, and DAX1 genes in sex reversal patients from the Sichuan region of China.
Chen L; Ding XP; Wei X; Li LX
Genet Mol Res; 2014 Mar; 13(1):1518-26. PubMed ID: 24668626
[TBL] [Abstract][Full Text] [Related]
6. Association between polymorphisms in the SOX9 region and canine disorder of sex development (78,XX; SRY-negative) revisited in a multibreed case-control study.
Nowacka-Woszuk J; Szczerbal I; Stachowiak M; Szydlowski M; Nizanski W; Dzimira S; Maslak A; Payan-Carreira R; Wydooghe E; Nowak T; Switonski M
PLoS One; 2019; 14(6):e0218565. PubMed ID: 31220175
[TBL] [Abstract][Full Text] [Related]
7. Deep sequencing of a candidate region harboring the SOX9 gene for the canine XX disorder of sex development.
Nowacka-Woszuk J; Szczerbal I; Pausch H; Hundi S; Hytönen MK; Grzemski A; Flisikowski K; Lohi H; Switonski M; Szydlowski M
Anim Genet; 2017 Jun; 48(3):330-337. PubMed ID: 28094446
[TBL] [Abstract][Full Text] [Related]
8. A rare case of 46, XX SRY-negative male with approximately 74-kb duplication in a region upstream of SOX9.
Xiao B; Ji X; Xing Y; Chen YW; Tao J
Eur J Med Genet; 2013 Dec; 56(12):695-8. PubMed ID: 24140641
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 25351776
[TBL] [Abstract][Full Text] [Related]
10. Excess DAX1 leads to XY ovotesticular disorder of sex development (DSD) in mice by inhibiting steroidogenic factor-1 (SF1) activation of the testis enhancer of SRY-box-9 (Sox9).
Ludbrook LM; Bernard P; Bagheri-Fam S; Ryan J; Sekido R; Wilhelm D; Lovell-Badge R; Harley VR
Endocrinology; 2012 Apr; 153(4):1948-58. PubMed ID: 22294746
[TBL] [Abstract][Full Text] [Related]
11. Extended pedigree with multiple cases of XX sex reversal in the absence of SRY and of a mutation at the SOX9 locus.
Temel SG; Gulten T; Yakut T; Saglam H; Kilic N; Bausch E; Jin WJ; Leipoldt M; Scherer G
Sex Dev; 2007; 1(1):24-34. PubMed ID: 18391513
[TBL] [Abstract][Full Text] [Related]
12. RevSex duplication-induced and sex-related differences in the SOX9 regulatory region chromatin landscape in human fibroblasts.
Lybæk H; de Bruijn D; den Engelsman-van Dijk AH; Vanichkina D; Nepal C; Brendehaug A; Houge G
Epigenetics; 2014 Mar; 9(3):416-27. PubMed ID: 24351654
[TBL] [Abstract][Full Text] [Related]
13. A transgenic insertion upstream of sox9 is associated with dominant XX sex reversal in the mouse.
Bishop CE; Whitworth DJ; Qin Y; Agoulnik AI; Agoulnik IU; Harrison WR; Behringer RR; Overbeek PA
Nat Genet; 2000 Dec; 26(4):490-4. PubMed ID: 11101852
[TBL] [Abstract][Full Text] [Related]
14. A Duplication Upstream of SOX9 Associated with
Mengen E; Kayhan G; Kocaay P; Uçaktürk SA
J Clin Res Pediatr Endocrinol; 2020 Sep; 12(3):308-314. PubMed ID: 31476840
[TBL] [Abstract][Full Text] [Related]
15. Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative).
Marcinkowska-Swojak M; Szczerbal I; Pausch H; Nowacka-Woszuk J; Flisikowski K; Dzimira S; Nizanski W; Payan-Carreira R; Fries R; Kozlowski P; Switonski M
Sci Rep; 2015 Oct; 5():14696. PubMed ID: 26423656
[TBL] [Abstract][Full Text] [Related]
16. Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD.
Seeherunvong T; Ukarapong S; McElreavey K; Berkovitz GD; Perera EM
J Pediatr Endocrinol Metab; 2012; 25(1-2):121-3. PubMed ID: 22570960
[TBL] [Abstract][Full Text] [Related]
17. A Rare Case of Testicular Disorder of Sex Development in a Dog (78,XX; SRY-Negative) with Male External Genitalia and Detection of Copy Number Variation in the Region Upstream of the SOX9 Gene.
Szczerbal I; Nowacka-Woszuk J; Dzimira S; Atamaniuk W; Nizanski W; Switonski M
Sex Dev; 2016; 10(2):74-8. PubMed ID: 27089505
[TBL] [Abstract][Full Text] [Related]
18. Similar Cause, Different Phenotype: SOX9 Enhancer Duplication in a Family.
Pinti E; Piko H; Lengyel A; Luczay A; Karcagi V; Fekete G; Haltrich I
Horm Res Paediatr; 2019; 92(5):335-339. PubMed ID: 31661700
[TBL] [Abstract][Full Text] [Related]
19. XY Sox9 embryonic loss-of-function mouse mutants show complete sex reversal and produce partially fertile XY oocytes.
Lavery R; Lardenois A; Ranc-Jianmotamedi F; Pauper E; Gregoire EP; Vigier C; Moreilhon C; Primig M; Chaboissier MC
Dev Biol; 2011 Jun; 354(1):111-22. PubMed ID: 21466799
[TBL] [Abstract][Full Text] [Related]
20. Mapping of a responsible region for sex reversal upstream of Sox9 by production of mice with serial deletion in a genomic locus.
Ogawa Y; Terao M; Hara S; Tamano M; Okayasu H; Kato T; Takada S
Sci Rep; 2018 Nov; 8(1):17514. PubMed ID: 30504911
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]