Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males.
about
Experimental methods to preserve male fertility and treat male factor infertilityDAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human diseaseThe novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiencyNew NR5A1 mutations and phenotypic variations of gonadal dysgenesis.The signaling phospholipid PIP3 creates a new interaction surface on the nuclear receptor SF-1.X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men.Hedgehog signaling and steroidogenesis.Low-dose monobutyl phthalate stimulates steroidogenesis through steroidogenic acute regulatory protein regulated by SF-1, GATA-4 and C/EBP-beta in mouse Leydig tumor cells.The Genetics of Infertility: Current Status of the Field.Single gene defects leading to sperm quantitative anomalies.Recent findings on the genetics of disorders of sex development.Stability and Pharmacological Effects of Gene-Recombinant Wild Type and Mutant Human Adrenocorticotropic Hormone.SF-1 deficiency causes lipid accumulation in Leydig cells via suppression of STAR and CYP11A1.An Iranian family with azoospermia and premature ovarian insufficiency segregating NR5A1 mutation.NR5A1 mutations are not associated with male infertility in Indian men.Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans.Mutational screening of the NR5A1 in azoospermia.Distinct prophase arrest mechanisms in human male meiosis.Disorders of spermatogenesis: Perspectives for novel genetic diagnostics after 20 years of unchanged routine.X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family
P2860
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P2860
Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males.
description
2013 nî lūn-bûn
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2013 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2013年の論文
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2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Comprehensive sequence analysi ...... arge group of infertile males.
@ast
Comprehensive sequence analysi ...... arge group of infertile males.
@en
Comprehensive sequence analysi ...... arge group of infertile males.
@nl
type
label
Comprehensive sequence analysi ...... arge group of infertile males.
@ast
Comprehensive sequence analysi ...... arge group of infertile males.
@en
Comprehensive sequence analysi ...... arge group of infertile males.
@nl
prefLabel
Comprehensive sequence analysi ...... arge group of infertile males.
@ast
Comprehensive sequence analysi ...... arge group of infertile males.
@en
Comprehensive sequence analysi ...... arge group of infertile males.
@nl
P2093
P2860
P356
P1476
Comprehensive sequence analysi ...... arge group of infertile males.
@en
P2093
Albrecht Röpke
Jörg Gromoll
Peter Wieacker
Sabine Kliesch
P2860
P2888
P304
P356
10.1038/EJHG.2012.290
P577
2013-01-09T00:00:00Z