Detalhe da pesquisa
1.
FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination.
Clin Genet
; 103(3): 277-287, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36349847
2.
Ovotesticular disorders of sex development in FGF9 mouse models of human synostosis syndromes.
Hum Mol Genet
; 29(13): 2148-2161, 2020 08 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32452519
3.
Sex-specific neuroprotection by inhibition of the Y-chromosome gene, SRY, in experimental Parkinson's disease.
Proc Natl Acad Sci U S A
; 116(33): 16577-16582, 2019 08 13.
Artigo
Inglês
| MEDLINE | ID: mdl-31371505
4.
ATR-X syndrome: genetics, clinical spectrum, and management.
Hum Genet
; 140(12): 1625-1634, 2021 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-34524523
5.
A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.
Clin Genet
; 99(2): 325-329, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33174625
6.
In mammalian foetal testes, SOX9 regulates expression of its target genes by binding to genomic regions with conserved signatures.
Nucleic Acids Res
; 45(12): 7191-7211, 2017 Jul 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28472341
7.
Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer.
Hum Mutat
; 39(12): 1861-1874, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30067310
8.
FGFR2 mutation in 46,XY sex reversal with craniosynostosis.
Hum Mol Genet
; 24(23): 6699-710, 2015 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-26362256
9.
Purification and Transcriptomic Analysis of Mouse Fetal Leydig Cells Reveals Candidate Genes for Specification of Gonadal Steroidogenic Cells.
Biol Reprod
; 92(6): 145, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25855264
10.
The male fight-flight response: a result of SRY regulation of catecholamines?
Bioessays
; 34(6): 454-7, 2012 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22408002
11.
A role for TRPC3 in mammalian testis development.
Front Cell Dev Biol
; 12: 1337714, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38425503
12.
Y chromosome damage underlies testicular abnormalities in ATR-X syndrome.
iScience
; 27(5): 109629, 2024 May 17.
Artigo
Inglês
| MEDLINE | ID: mdl-38616920
13.
Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome.
Hum Mol Genet
; 20(11): 2213-24, 2011 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-21427128
14.
SOX9 regulates microRNA miR-202-5p/3p expression during mouse testis differentiation.
Biol Reprod
; 89(2): 34, 2013 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-23843232
15.
Sox9 gene regulation and the loss of the XY/XX sex-determining mechanism in the mole vole Ellobius lutescens.
Chromosome Res
; 20(1): 191-9, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22215485
16.
Identification of mediator complex 26 (Crsp7) gametologs on platypus X1 and Y5 sex chromosomes: a candidate testis-determining gene in monotremes?
Chromosome Res
; 20(1): 127-38, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22215486
17.
Genetic control of typical and atypical sex development.
Nat Rev Urol
; 20(7): 434-451, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37020056
18.
Somatic FGFR2 is Required for Germ Cell Maintenance in the Mouse Ovary.
Endocrinology
; 164(5)2023 03 13.
Artigo
Inglês
| MEDLINE | ID: mdl-36786658
19.
A "Four Core Genotypes" rat model to distinguish mechanisms underlying sex-biased phenotypes and diseases.
bioRxiv
; 2023 Feb 10.
Artigo
Inglês
| MEDLINE | ID: mdl-36798326
20.
The human testis-determining factor SRY localizes in midbrain dopamine neurons and regulates multiple components of catecholamine synthesis and metabolism.
J Neurochem
; 122(2): 260-71, 2012 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-22568433