The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice.
about
New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders.CRISPR/Cas9-mediated simultaneous knockout of Dmrt1 and Dmrt3 does not recapitulate the 46,XY gonadal dysgenesis observed in 9p24.3 deletion patientsGenome editing for the reproduction and remedy of human diseases in mice.Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.
P2860
The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh
2016年學術文章
@zh-hant
name
The p.R92W variant of NR5A1/Nr ...... nts and mutation-induced mice.
@en
The p.R92W variant of NR5A1/Nr ...... nts and mutation-induced mice.
@nl
type
label
The p.R92W variant of NR5A1/Nr ...... nts and mutation-induced mice.
@en
The p.R92W variant of NR5A1/Nr ...... nts and mutation-induced mice.
@nl
prefLabel
The p.R92W variant of NR5A1/Nr ...... nts and mutation-induced mice.
@en
The p.R92W variant of NR5A1/Nr ...... nts and mutation-induced mice.
@nl
P2093
P2860
P50
P1476
The p.R92W variant of NR5A1/Nr ...... nts and mutation-induced mice.
@en
P2093
Akiko Hakoda
Junko Kanno
Kenji Miyado
Maki Fukami
Maki Igarashi
Mami Miyado
Moe Tamano
Shuji Takada
Yuko Katoh-Fukui
P2860
P2888
P356
10.1186/S13293-016-0114-6
P577
2016-11-08T00:00:00Z
P6179
1030482467