نتایج جستجو برای: nr5a1

تعداد نتایج: 360  

Journal: :PLoS ONE 2008
Miyuki Suzawa Holly A. Ingraham

Atrazine (ATR) remains a widely used broadleaf herbicide in the United States despite the fact that this s-chlorotriazine has been linked to reproductive abnormalities in fish and amphibians. Here, using zebrafish we report that environmentally relevant ATR concentrations elevated zcyp19a1 expression encoding aromatase (2.2 microg/L), and increased the ratio of female to male fish (22 microg/L)...

Journal: :Human molecular genetics 2011
Kamal Bouhali Aurélie Dipietromaria Anastasia Fontaine Sandrine Caburet Ottavia Barbieri Brice Bellessort Marc Fellous Reiner A Veitia Giovanni Levi

Primary ovarian insufficiency (POI) is characterized by the loss of ovarian function before the age of 40 in humans. Although most cases of POI are idiopathic, many are familial, underlying a genetic origin of the disease. Mutations in genes involved in the control of steroidogenesis, such as NR5A1 (SF-1, Steroidogenic Factor 1), CYP17, CYP19A1 (aromatase), StAR (Steroidogenic Acute Regulatory)...

Journal: :International journal of andrology 2012
M Welsh L Moffat K Belling L R de França T M Segatelli P T K Saunders R M Sharpe L B Smith

Testosterone synthesis depends on normal Leydig cell (LC) development, but the mechanisms controlling this development remain unclear. We recently demonstrated that androgen receptor (AR) ablation from a proportion of testicular peritubular myoid cells (PTM-ARKO) did not affect LC number, but resulted in compensated LC failure. The current study extends these investigations, demonstrating that ...

2018
Piotr Celichowski Mariusz J Nawrocki Marta Dyszkiewicz-Konwińska Maurycy Jankowski Joanna Budna Artur Bryja Wiesława Kranc Sylwia Borys Sandra Knap Sylwia Ciesiółka Michal Jeseta Karolina Piasecka-Stryczyńska Ronza Khozmi Dorota Bukowska Paweł Antosik Klaus P Brüssow Małgorzata Bruska Michał Nowicki Maciej Zabel Bartosz Kempisty

The cumulus-oocyte complexes (COCs) growth and development during folliculogenesis and oogenesis are accompanied by changes involving synthesis and accumulation of large amount of RNA and proteins. In this study, the transcriptomic profile of genes involved in "oocytes RNA synthesis" in relation to in vitro maturation in pigs was investigated for the first time. The RNA was isolated from oocyte...

Journal: :Endocrinology 2007
Matthias Mueller Atanas Atanasov Igor Cima Nadia Corazza Kristina Schoonjans Thomas Brunner

Glucocorticoids are steroid hormones with important functions in development, immune regulation, and glucose metabolism. The adrenal glands are the predominant source of glucocorticoids; however, there is increasing evidence for extraadrenal glucocorticoid synthesis in thymus, brain, skin, and vascular endothelium. We recently identified intestinal epithelial cells as an important source of glu...

Journal: :Molecular and cellular endocrinology 2014
Bala Bhagavath Lawrence C Layman Reinhard Ullmann Yiping Shen Kyungsoo Ha Khurram Rehman Stephen Looney Paul G McDonough Hyung-Goo Kim Bruce R Carr

BACKGROUND 46,XY sex reversal is a rare disorder and familial cases are even more rare. The purpose of the present study was to determine the molecular basis for a family with three affected siblings who had 46,XY sex reversal. METHODS DNA was extracted from three females with 46,XY sex reversal, two normal sisters, and both unaffected parents. All protein coding exons of the SRY and NR5A1 ge...

2005
Yuko Katoh-Fukui Akiko Owaki Yoshiro Toyama Masatomo Kusaka Yuko Shinohara Mamiko Maekawa Kiyotaka Toshimori Ken-ichirou Morohashi

Mice with disrupted mammalian PcG (Polycomb group) genes commonly show skeletal transformation of anterior-posterior identities. Disruption of the murine M33 gene, a PcG member, displayed posterior transformation of the vertebral columns and sternal ribs. In addition, failure of T-cell expansion and hypoplasia and sex-reversal of the gonads, have been observed. In the present study, we identifi...

2015
Masafumi Kon Maki Fukami

BACKGROUND Mutations in known causative genes and cytogenetically detectable chromosomal rearrangements account for a fraction of cases with 46,XY disorders of sex development (DSD). Recent advances in molecular cytogenetic technologies, including array-based comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MLPA), have enabled the identification of ...

Journal: :Molecular endocrinology 2003
Hirofumi Mizusaki Ken Kawabe Tokuo Mukai Etsuko Ariyoshi Megumi Kasahara Hidefumi Yoshioka Amanda Swain Ken-Ichirou Morohashi

Dax-1 [dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (NR0B1)] is an orphan nuclear receptor acting as a suppressor of Ad4 binding protein/steroidogenic factor 1 [Ad4BP/SF-1 (NR5A1)] and as an anti-Sry factor in the process of gonadal sex differentiation. The roles of these nuclear receptors in the differentiation of the gonads and the adr...

2014
Junye Shen Chuanli Zhou Shien Zhu Wenqing Shi Maishun Hu Xiangwei Fu Chuduan Wang Yachun Wang Qin Zhang Ying Yu

Early and accurate diagnosis of pregnancy is important for effective management of an economical pig farm. Besides the currently available methods used in early diagnosis of sows, circulating nucleic acids in peripheral blood may contain some early pregnancy-specific molecular markers. For the first time, microarray analysis of peripheral blood from pregnant sows versus non-pregnant sows identi...

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