Detalhe da pesquisa
1.
SOX9 and SRY binding sites on mouse mXYSRa/Enh13 enhancer redundantly regulate Sox9 expression to varying degrees.
Hum Mol Genet
; 32(1): 55-64, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35921234
2.
Chromosomal microdeletion leading to pituitary gigantism through hormone-gene overexpression.
Hum Mol Genet
; 32(14): 2318-2325, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37070740
3.
Integrator complex subunit 15 controls mRNA splicing and is critical for eye development.
Hum Mol Genet
; 32(12): 2032-2045, 2023 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36851842
4.
Turnover of mammal sex chromosomes in the Sry-deficient Amami spiny rat is due to male-specific upregulation of Sox9.
Proc Natl Acad Sci U S A
; 119(49): e2211574119, 2022 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36442104
5.
Humanization of a tandem repeat in IG-DMR causes stochastic restoration of paternal imprinting at mouse Dlk1-Dio3 domain.
Hum Mol Genet
; 30(7): 564-574, 2021 05 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33709141
6.
Exploring trophoblast-specific Tead4 enhancers through chromatin conformation capture assays followed by functional screening.
Nucleic Acids Res
; 48(1): 278-289, 2020 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31777916
7.
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.
Am J Med Genet A
; 185(4): 1067-1075, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33399274
8.
Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis.
J Am Soc Nephrol
; 30(5): 877-889, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30962325
9.
Renal medullary tonicity regulates RNF183 expression in the collecting ducts via NFAT5.
Biochem Biophys Res Commun
; 514(2): 436-442, 2019 06 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31053298
10.
Cord blood-derived endothelial colony-forming cell function is disrupted in congenital diaphragmatic hernia.
Am J Physiol Lung Cell Mol Physiol
; 310(11): L1143-54, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27130531
11.
Microinjection-based generation of mutant mice with a double mutation and a 0.5 Mb deletion in their genome by the CRISPR/Cas9 system.
J Reprod Dev
; 62(5): 531-536, 2016 Oct 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-27396308
12.
Establishment and visual analysis of CBA/J-Pde6bY347Y/Y347X and C3H/HeJ-Pde6bY347Y/Y347X mice.
Exp Anim
; 73(2): 203-210, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38171880
13.
LZTR1 deficiency exerts high metastatic potential by enhancing sensitivity to EMT induction and controlling KLHL12-mediated collagen secretion.
Cell Death Dis
; 14(8): 556, 2023 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37626065
14.
Human SRY Expression at the Sex-determining Period is Insufficient to Drive Testis Development in Mice.
Endocrinology
; 163(1)2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34662386
15.
POU1F1/Pou1f1 c.143-83A > G Variant Disrupts the Branch Site in Pre-mRNA and Leads to Dwarfism.
Endocrinology
; 164(2)2022 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36427334
16.
Tmsb10 triggers fetal Leydig differentiation by suppressing the RAS/ERK pathway.
Commun Biol
; 5(1): 974, 2022 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36109592
17.
Rnd2 differentially regulates oligodendrocyte myelination at different developmental periods.
Mol Biol Cell
; 32(8): 769-787, 2021 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33596091
18.
A Testis-Specific Long Noncoding RNA, Start, Is a Regulator of Steroidogenesis in Mouse Leydig Cells.
Front Endocrinol (Lausanne)
; 12: 665874, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33897623
19.
Efficient production and transmission of CRISPR/Cas9-mediated mutant alleles at the IG-DMR via generation of mosaic mice using a modified 2CC method.
Sci Rep
; 9(1): 20202, 2019 12 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31882978
20.
Mapping of a responsible region for sex reversal upstream of Sox9 by production of mice with serial deletion in a genomic locus.
Sci Rep
; 8(1): 17514, 2018 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30504911