436 related articles for article (PubMed ID: 30552336)
1. 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]
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. 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]
4. 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]
5. 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. PubMed ID: 26108792
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.
Knower KC; Kelly S; Ludbrook LM; Bagheri-Fam S; Sim H; Bernard P; Sekido R; Lovell-Badge R; Harley VR
PLoS One; 2011 Mar; 6(3):e17751. PubMed ID: 21412441
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. The regulation of Sox9 expression in the gonad.
Gonen N; Lovell-Badge R
Curr Top Dev Biol; 2019; 134():223-252. PubMed ID: 30999977
[TBL] [Abstract][Full Text] [Related]
10. 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]
11.
Dujardin E; André M; Dewaele A; Mandon-Pépin B; Poulat F; Frambourg A; Thépot D; Jouneau L; Jolivet G; Pailhoux E; Pannetier M
Elife; 2023 Oct; 12():. PubMed ID: 37847154
[TBL] [Abstract][Full Text] [Related]
12. Altered SOX9 genital tubercle enhancer region in hypospadias.
Sreenivasan R; Gordon CT; Benko S; de Iongh R; Bagheri-Fam S; Lyonnet S; Harley V
J Steroid Biochem Mol Biol; 2017 Jun; 170():28-38. PubMed ID: 27989796
[TBL] [Abstract][Full Text] [Related]
13. SRY upregulation of SOX9 is inefficient and delayed, allowing ovarian differentiation, in the B6.Y(TIR) gonad.
Park S; Zeidan K; Shin JS; Taketo T
Differentiation; 2011 Jul; 82(1):18-27. PubMed ID: 21592645
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Identification of a New Enhancer That Promotes Sox9 Expression by a Comparative Analysis of Mouse and Sry-Deficient Amami Spiny Rat.
Hirata Y; Mizushima S; Mitsukawa S; Kon M; Kuroki Y; Jogahara T; Shinohara N; Kuroiwa A
Cytogenet Genome Res; 2023; 163(5-6):307-316. PubMed ID: 38246151
[TBL] [Abstract][Full Text] [Related]
16. Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development.
Ushijima K; Ogawa Y; Terao M; Asakura Y; Muroya K; Hayashi M; Ishii T; Hasegawa T; Sekido R; Fukami M; Takada S; Narumi S
Am J Med Genet A; 2021 Apr; 185(4):1067-1075. PubMed ID: 33399274
[TBL] [Abstract][Full Text] [Related]
17. Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer.
Sreenivasan R; Ludbrook L; Fisher B; Declosmenil F; Knower KC; Croft B; Bird AD; Ryan J; Bashamboo A; Sinclair AH; Koopman P; McElreavey K; Poulat F; Harley VR
Hum Mutat; 2018 Dec; 39(12):1861-1874. PubMed ID: 30067310
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Autosomal XX sex reversal caused by duplication of SOX9.
Huang B; Wang S; Ning Y; Lamb AN; Bartley J
Am J Med Genet; 1999 Dec; 87(4):349-53. PubMed ID: 10588843
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]