217 related articles for article (PubMed ID: 22441105)
1. A novel SRY mutation leads to asymmetric SOX9 activation and is responsible for mixed 46,XY gonadal dysgenesis.
Klee P; Béna F; Birraux J; Dahoun S; Dirlewanger M; Girardin C; Plotton I; Rougemont AL; Morel Y; Schwitzgebel VM
Horm Res Paediatr; 2012; 78(3):188-92. PubMed ID: 22441105
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis.
Georg I; Bagheri-Fam S; Knower KC; Wieacker P; Scherer G; Harley VR
Sex Dev; 2010; 4(6):321-5. PubMed ID: 20838034
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. XX Maleness and XX true hermaphroditism in SRY-negative monozygotic twins: additional evidence for a common origin.
Maciel-Guerra AT; de Mello MP; Coeli FB; Ribeiro ML; Miranda ML; Marques-de-Faria AP; Baptista MT; Moraes SG; Guerra-Júnior G
J Clin Endocrinol Metab; 2008 Feb; 93(2):339-43. PubMed ID: 18056774
[TBL] [Abstract][Full Text] [Related]
6. The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants.
Nishi MY; Costa EM; Oliveira SB; Mendonca BB; Domenice S
Horm Res Paediatr; 2011; 75(1):26-31. PubMed ID: 20699606
[TBL] [Abstract][Full Text] [Related]
7. Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations.
Scherer G; Held M; Erdel M; Meschede D; Horst J; Lesniewicz R; Midro AT
Cytogenet Cell Genet; 1998; 80(1-4):188-92. PubMed ID: 9678356
[TBL] [Abstract][Full Text] [Related]
8. Molecular evaluation of the SRY gene for gonads of patients with mixed gonadal dysgenesis.
Mizuno K; Kojima Y; Tozawa K; Sasaki S; Hayashi Y; Kohri K
Int J Urol; 2005 Jul; 12(7):673-6. PubMed ID: 16045561
[TBL] [Abstract][Full Text] [Related]
9. Inhibition of SRY-calmodulin complex formation induces ectopic expression of ovarian cell markers in developing XY gonads.
Sim H; Argentaro A; Czech DP; Bagheri-Fam S; Sinclair AH; Koopman P; Boizet-Bonhoure B; Poulat F; Harley VR
Endocrinology; 2011 Jul; 152(7):2883-93. PubMed ID: 21558314
[TBL] [Abstract][Full Text] [Related]
10. Inherited human sex reversal due to impaired nucleocytoplasmic trafficking of SRY defines a male transcriptional threshold.
Chen YS; Racca JD; Phillips NB; Weiss MA
Proc Natl Acad Sci U S A; 2013 Sep; 110(38):E3567-76. PubMed ID: 24003159
[TBL] [Abstract][Full Text] [Related]
11. Novel pathogenic mutations in disorders of sex development associated genes cause 46,XY complete gonadal dysgenesis.
Xue M; Wang X; Li C; Zhao M; He F; Li X
Gene; 2019 Nov; 718():144072. PubMed ID: 31446095
[TBL] [Abstract][Full Text] [Related]
12. A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis.
Helszer Z; Dmochowska A; Szemraj J; Słowikowska-Hilczer J; Wieczorek M; Jędrzejczyk S; Kałużewski B
Gene; 2013 Sep; 526(2):467-70. PubMed ID: 23624391
[TBL] [Abstract][Full Text] [Related]
13. Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import.
Wang X; Xue M; Zhao M; He F; Li C; Li X
Gene; 2018 Apr; 651():143-151. PubMed ID: 29378242
[TBL] [Abstract][Full Text] [Related]
14. Identification of a novel mutation in the SRY gene in a 46, XY female patient.
Salehi LB; Scarciolla O; Vanni GF; Nardone AM; Frajese G; Novelli G; Stuppia L
Eur J Med Genet; 2006; 49(6):494-8. PubMed ID: 16675314
[TBL] [Abstract][Full Text] [Related]
15. Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.
McElreavey K; Vilain E; Barbaux S; Fuqua JS; Fechner PY; Souleyreau N; Doco-Fenzy M; Gabriel R; Quereux C; Fellous M; Berkovitz GD
Proc Natl Acad Sci U S A; 1996 Aug; 93(16):8590-4. PubMed ID: 8710915
[TBL] [Abstract][Full Text] [Related]
16. Epigenetic abnormality of SRY gene in the adult XY female with pericentric inversion of the Y chromosome.
Mitsuhashi T; Warita K; Sugawara T; Tabuchi Y; Takasaki I; Kondo T; Hayashi F; Wang ZY; Matsumoto Y; Miki T; Takeuchi Y; Ebina Y; Yamada H; Sakuragi N; Yokoyama T; Nanmori T; Kitagawa H; Kant JA; Hoshi N
Congenit Anom (Kyoto); 2010 Jun; 50(2):85-94. PubMed ID: 20184645
[TBL] [Abstract][Full Text] [Related]
17. Identification of X monosomy cells from a gonad of mixed gonadal dysgenesis with a 46,XY karyotype: case report.
Nishina-Uchida N; Fukuzawa R; Hasegawa Y; Morison IM
Medicine (Baltimore); 2015 Apr; 94(14):e720. PubMed ID: 25860218
[TBL] [Abstract][Full Text] [Related]
18. [Study of sex determination gene (SRY) in 46,XY gonadal dysgenesis].
Boucekkine C; Vilain E; McElreavey K; Jaubert F; Brauner R; Thibaud E; Battin J; Toublanc JE; Kucheria K; Chaabouni S
Ann Endocrinol (Paris); 1994; 54(5):315-21. PubMed ID: 8085778
[TBL] [Abstract][Full Text] [Related]
19. DNA binding activity studies and computational approach of mutant SRY in patients with 46, XY complete pure gonadal dysgenesis.
Sánchez-Moreno I; Canto P; Munguía P; de León MB; Cisneros B; Vilchis F; Reyes E; Méndez JP
Mol Cell Endocrinol; 2009 Feb; 299(2):212-8. PubMed ID: 19007850
[TBL] [Abstract][Full Text] [Related]
20. Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis.
Tagliarini EB; Assumpção JG; Scolfaro MR; Mello MP; Maciel-Guerra AT; Guerra Júnior G; Hackel C
Braz J Med Biol Res; 2005 Jan; 38(1):17-25. PubMed ID: 15665984
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
