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https://www.readbyqxmd.com/read/29668062/long-term-outcomes-and-molecular-analysis-of-a-large-cohort-of-patients-with-46-xy-disorder-of-sex-development-due-to-partial-gonadal-dysgenesis
#1
Nathalia Lisboa Gomes, Antônio Marcondes Lerário, Aline Machado Zamboni, Daniela Rodrigues de Moraes, Thatiana Evilen da Silva, Ivo Jorge Prado Arnhold, Rafael Loch Batista, José Antônio Diniz Faria Júnior, Elaine F Costa, Mirian Y Nishi, Marlene Inacio, Sorahia Domenice, Berenice B Mendonca
BACKGROUND: Follow-up data on patients with 46,XY partial gonadal dysgenesis (PGD) until adulthood are scarce, making information on prognosis difficult. OBJECTIVE: To analyse the long-term outcomes of patients with 46,XY PGD regarding testosterone production, germ cell tumour risk, genotype, and psychosexual adaptation. METHODS: A retrospective longitudinal study of 33 patients (20 assigned male and 13 patients assigned female at birth). Molecular diagnosis was performed by Sanger sequencing or by targeted massively parallel sequencing of 63 genes related to disorders of sex development (DSDs)...
April 18, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29627606/gestational-exposure-to-ziram-disrupts-rat-fetal-leydig-cell-development
#2
Jianpeng Liu, Yiyan Wang, Yinghui Fang, Chaobo Ni, Leikai Ma, Wenwen Zheng, Suhao Bao, Xiaoheng Li, Qingquan Lian, Ren-Shan Ge
Ziram is an endocrine disruptor and may cause birth abnormality of the male reproductive system. However, the effects of ziram on fetal Leydig cell (FLC) development are still unknown. The objective of the present study was to determine the endocrine-disrupting effect of ziram on rat FLC development after gestational exposure. Pregnant Sprague Dawley dams were randomly divided into 5 groups and were gavaged with 0 (corn oil, the control), 1, 2, 4, or 8 mg/kg ziram from gestational day 12 (GD12) to GD21. FLC development was evaluated by measuring serum testosterone, FLC number and distribution, and the expression levels of Leydig and Sertoli cell genes...
March 21, 2018: Chemosphere
https://www.readbyqxmd.com/read/29582157/next-generation-sequencing-reveals-genetic-landscape-in-46-xy-disorders-of-sexual-development-patients-with-variable-phenotypes
#3
Hao Wang, Lele Zhang, Nan Wang, Hui Zhu, Bing Han, Feng Sun, Haijun Yao, Qiang Zhang, Wenjiao Zhu, Tong Cheng, Kaixiang Cheng, Yang Liu, Shuangxia Zhao, Huaidong Song, Jie Qiao
Disorders of sexual development (DSD) are rare congenital conditions in which chromosomal, gonadal, or anatomical sex is atypical. Currently, less than 20% of patients receive an accurate genetic diagnosis. Targeted next-generation sequencing, consisting of 33 candidate genes and 47 genes involved in sexual differentiation and development, was performed on 70 46, XY DSD patients. Functional assays were performed to evaluate the expression and transcriptional activity of one reported and nine novel mutations of NR5A1...
March 2018: Human Genetics
https://www.readbyqxmd.com/read/29565736/smad-ubiquitylation-regulatory-factor-1-promotes-lim-homeobox-gene-9-degradation-and-represses-testosterone-production-in-leydig-cells
#4
Fan Hu, Qiong Zhu, Banruo Sun, Chunping Cui, Chunlin Li, Lingqiang Zhang
Testosterone is essential for spermatogenesis and the maintenance of secondary sexual characteristics in males. An important transcription factor, LIM-homeobox gene 9 (Lhx9) is indispensable for testis development and testosterone production; however, post-translational modifications of Lhx9 are largely unknown. Here, for the first time to our knowledge, we demonstrate that the level of Lhx9 protein increases in human chorionic gonadotropin-exposed Leydig cells and can be polyubiquitylated. We found that Smad ubiquitylation regulatory factor 1 (Smurf1), an E3 ubiquitin ligase, targets Lhx9 for ubiquitin-mediated proteasome degradation, thereby negatively modulating its function...
March 22, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29546053/-positive-regulation-of-rna-metabolic-process-ontology-group-highly-regulated-in-porcine-oocytes-matured-in-vitro-a-microarray-approach
#5
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 oocytes before and after in vitro maturation (IVM). Interactions between differentially expressed genes/proteins belonging to "positive regulation of RNA metabolic process" ontology group were investigated by STRING10 software...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29527098/disorders-of-spermatogenesis-perspectives-for-novel-genetic-diagnostics-after-20-years-of-unchanged-routine
#6
REVIEW
Frank Tüttelmann, Christian Ruckert, Albrecht Röpke
Infertility is a common condition estimated to affect 10-15% of couples. The clinical causes are attributed in equal parts to the male and female partners. Diagnosing male infertility mostly relies on semen (and hormone) analysis, which results in classification into the two major phenotypes of oligo- and azoospermia. The clinical routine analyses have not changed over the last 20 years and comprise screening for chromosomal aberrations and Y‑chromosomal azoospermia factor deletions. These tests establish a causal genetic diagnosis in about 4% of unselected men in infertile couples and 20% of azoospermic men...
2018: Medizinische Genetik: Mitteilungsblatt des Berufsverbandes Medizinische Genetik E.V
https://www.readbyqxmd.com/read/29520253/tcf21-pod-1-a-transcritional-regulator-of-sf-1-nr5a1-as-a-potential-prognosis-marker-in-adult-and-pediatric-adrenocortical-tumors
#7
Barbara Dos Santos Passaia, Matheus Henrique Dias, Jean Lucas Kremer, Sonir Roberto Rauber Antonini, Madson Queiroz de Almeida, Maria Candida Barisson Villares Fragoso, Claudimara Ferini Pacicco Lotfi
With recent progress in understanding the pathogenesis of adrenocortical tumors (ACTs), identification of molecular markers to predict their prognosis has become possible. Transcription factor 21 (TCF21)/podocyte-expressed 1 (POD1) is a transcriptional regulatory protein expressed in mesenchymal cells at sites of epithelial-mesenchymal transition during the development of different systems. Adult carcinomas express less TCF21 than adenomas, in addition, the KEGG pathway analysis has shown that BUB1B , among others genes, is negatively correlated with TCF21 expression...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29429410/the-human-fetal-adrenal-produces-cortisol-but-no-detectable-aldosterone-throughout-the-second-trimester
#8
Zoe C Johnston, Michelle Bellingham, Panagiotis Filis, Ugo Soffientini, Denise Hough, Siladitya Bhattacharya, Marc Simard, Geoffrey L Hammond, Peter King, Peter J O'Shaughnessy, Paul A Fowler
BACKGROUND: Human fetal adrenal glands are highly active and, with the placenta, regulate circulating progesterone, estrogen and corticosteroids in the fetus. At birth the adrenals are essential for neonate salt retention through secretion of aldosterone, while adequate glucocorticoids are required to prevent adrenal insufficiency. The objective of this study was to carry out the first comprehensive analysis of adrenal steroid levels and steroidogenic enzyme expression in normal second trimester human fetuses...
February 12, 2018: BMC Medicine
https://www.readbyqxmd.com/read/29402198/the-essential-role-of-gata6-in-the-activation-of-estrogen-synthesis-in-endometriosis
#9
Lia A Bernardi, Matthew T Dyson, Hideki Tokunaga, Christia Sison, Muge Oral, Jared C Robins, Serdar E Bulun
Endometriotic stromal cells synthesize estradiol via the steroidogenic pathway. Nuclear receptor subfamily 5, group A, member 1 (NR5A1) is critical, but alone not sufficient, in activating this cascade that involves at least 5 genes. To evaluate whether another transcription factor is required for the activation of this pathway, we examined whether GATA Binding Protein 6 (GATA6) can transform a normal endometrial stromal cell (NoEM) into an endometriotic-like cell by conferring an estrogen-producing phenotype...
January 1, 2018: Reproductive Sciences
https://www.readbyqxmd.com/read/29393271/phenotypic-variation-in-46-xx-disorders-of-sex-development-due-to-the-nr5a1-p-r92w-variant-a-sibling-case-report-and-literature-review
#10
Kei Takasawa, Maki Igarashi, Makoto Ono, Akira Takemoto, Shuji Takada, Atsuyuki Yamataka, Tsutomu Ogata, Tomohiro Morio, Maki Fukami, Kenichi Kashimada
Recently, a heterozygous missense mutation in NR5A1, p.R92W, was identified as a cause of 46,XX testicular/ovo-testicular disorders of sexual development (DSD). We report a sibling pair with 46,XX DSD due to an NR5A1 mutation with distinct phenotypes, including external and internal genitalia and gonads, for whom different rearing sexes were selected. Thus, the phenotypes of p.R92W vary, even within a family. The father of the patients showed oligozoospermia with the p.R92W mutation, suggesting that in 46,XY individuals, the mutation would cause various gonadal phenotypes...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29332064/recurrent-intragenic-duplication-within-the-nr5a1-gene-and-severe-proximal-hypospadias
#11
Matthieu Peycelon, Lamisse Mansour-Hendili, Capucine Hyon, Nathalie Collot, Muriel Houang, Marie Legendre, Maud Chabaud, Marie-Dominique Bouvier, Georges Audry, Serge Amselem, Jean-Pierre Siffroi
A heterozygous intragenic duplication within the repeated area (CTGCAGCTG)×2 of the NR5A1 gene was found in a 15-year-old 46,XY DSD (disorders/differences of sex development) patient with micropenis and severe proximal hypospadias. This heterozygous duplication has already been described twice in boys with a similar phenotype, whereas a deletion of 3 amino acids at the same position in the protein SF-1 has been described in a 46,XX patient with primary ovarian failure and short stature. These data suggest that this region within the NR5A1 gene has an important role for SF-1 protein function in gonads and is a hotspot for intragenic rearrangements...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29330500/integration-of-gwas-pathway-and-network-analyses-reveals-novel-mechanistic-insights-into-the-synthesis-of-milk-proteins-in-dairy-cows
#12
Sara Pegolo, Núria Mach, Yuliaxis Ramayo-Caldas, Stefano Schiavon, Giovanni Bittante, Alessio Cecchinato
The quantities and proportions of protein fractions have notable effects on the nutritional and technological value of milk. Although much is known about the effects of genetic variants on milk proteins, the complex relationships among the set of genes and pathways regulating the different protein fractions synthesis and secretion into milk in dairy cows are still not completely understood. We conducted genome-wide association studies (GWAS) for milk nitrogen fractions in a cohort of 1,011 Brown Swiss cows, which uncovered 170 significant single nucleotide polymorphism (SNPs), mostly located on BTA6 and BTA11...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29306929/comparison-between-two-inhibin-b-elisa-assays-in-46-xy-testicular-disorders-of-sex-development-dsd-with-normal-testosterone-secretion
#13
Guilherme Guaragna-Filho, Antônio Ramos Calixto, Georgette Beatriz De Paula, Laurione Cândido De Oliveira, André Moreno Morcillo, Maricilda Palandi De Mello, Andrea Trevas Maciel-Guerra, Gil Guerra-Junior
BACKGROUND: Inhibin B is a hormone produced by the Sertoli cells that can provide important information for the investigation of disorders of sex development (DSD) with 46,XY karyotype. The aim of this study is to compare two enzyme-linked immunosorbent assay (ELISA) assays for dosage of serum inhibin B in patients with 46,XY DSD with normal testosterone secretion. METHODS: Twenty-nine patients with 46,XY DSD and normal testosterone secretion (partial androgen insensitivity syndrome [PAIS] [n=8]; 5α-reductase deficiency [n=7] and idiopathic 46,XY DSD [n=14]) were included...
January 26, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29190620/four-novel-nr5a1-mutations-in-46-xy-gonadal-dysgenesis-patients-including-frameshift-mutations-with-altered-subcellular-sf-1-localization
#14
Jan Rehkämper, Ann-Christin Tewes, Judit Horvath, Gerd Scherer, Peter Wieacker, Susanne Ledig
46,XY gonadal dysgenesis (46,XY GD) is a disorder of sexual development caused by mutations in genes involved in early gonadal development (bipotential gonads) and testis differentiation. In 46,XY GD individuals, mutations of the SRY gene are detected most frequently, followed by mutations in the NR5A1 (SF-1) gene, but in a lot of cases, the underlying molecular mechanism remains elusive. In this study, we retrospectively performed sequence analyses of the NR5A1 (SF-1) gene in 84 patients with complete, partial, and syndromic forms of 46,XY GD...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29151085/a-novel-mutation-in-the-critical-p-box-residue-of-steroidogenic-factor-1-presenting-with-xy-sex-reversal-and-transient-adrenal-failure
#15
Anna S Orekhova, Natalia Kalinchenko, Ivan A Morozov, Evgeny V Vasilyev, Petr M Rubtsov, Ivan I Dedov, Anatoly Tiulpakov
BACKGROUND: Although the importance of steroidogenic factor-1 (SF1, NR5A1) for adrenal development is supported by numerous in vitro and in vivo studies, cases of SF1 deficiency associated with adrenal failure are exceptionally rare. The first human NR5A1 mutation was a heterozygous de novo p.G35E variant identified in a patient with disorder of sex development (DSD) 46,XY and primary adrenal insufficiency. Here we describe another association of the "classic" SF1 phenotype with a novel NR5A1 mutation affecting G35 residue...
November 17, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29090230/genetic-screening-of-iranian-patients-with-46-xy-disorders-of-sex-development
#16
Azadeh Shojaei, Reza Ebrahimzadeh-Vesal, Ali Ahani, Maryam Razzaghy-Azar, Golnaz Khakpour, Farideh Ghazi, Javad Tavakkoly-Bazzaz
BACKGROUND: Disorders of sex development (DSDs) belong to uncommon pathologies and result from abnormalities during gonadal determination and differentiation. Various gene mutations involved in gonadal determination and differentiation have been associated with gonadal dysgenesis. Despite advances in exploration of genes and mechanisms involved in sex disorders, most children with severe 46,XY DSDs have no definitive etiological diagnoses; therefore, the possibility that other genes or loci might play important roles in these disorders needs to be explored...
October 2017: Reports of Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/29027717/functional-characterization-of-five-nr5a1-gene-mutations-found-in-patients-with-46-xy-disorders-of-sex-development
#17
Helena Fabbri-Scallet, Maricilda Palandi de Mello, Gil Guerra-Júnior, Andréa Trevas Maciel-Guerra, Juliana Gabriel Ribeiro de Andrade, Camila Maia Costa de Queiroz, Isabella Lopes Monlleó, Dagmar Struve, Olaf Hiort, Ralf Werner
Steroidogenic factor-1 (SF1), encoded by the NR5A1 gene, is a key regulator of steroidogenesis and reproductive development. NR5A1 mutations described in 46,XY patients with disorders of sex development (DSD) can be associated with a range of conditions of phenotypes; however, the genotype-phenotype correlation remains elusive in many cases. In the present study, we describe the impact of five NR5A1 variants (three novel: p.Arg39Cys, p.Ser32Asn, and p.Lys396Argfs*34; and two previously described: p.Cys65Tyr and p...
January 2018: Human Mutation
https://www.readbyqxmd.com/read/29027299/functional-characterization-of-novel-nr5a1-variants-reveals-multiple-complex-roles-in-disorders-of-sex-development
#18
Gorjana Robevska, Jocelyn A van den Bergen, Thomas Ohnesorg, Stefanie Eggers, Chloe Hanna, Remko Hersmus, Elizabeth M Thompson, Anne Baxendale, Charles F Verge, Antony R Lafferty, Nanis S Marzuki, Ardy Santosa, Nurin A Listyasari, Stefan Riedl, Garry Warne, Leendert Looijenga, Sultana Faradz, Katie L Ayers, Andrew H Sinclair
Variants in the NR5A1 gene encoding SF1 have been described in a diverse spectrum of disorders of sex development (DSD). Recently, we reported the use of a targeted gene panel for DSD where we identified 15 individuals with a variant in NR5A1, nine of which are novel. Here, we examine the functional effect of these changes in relation to the patient phenotype. All novel variants tested had reduced trans-activational activity, while several had altered protein level, localization, or conformation. In addition, we found evidence of new roles for SF1 protein domains including a region within the ligand binding domain that appears to contribute to SF1 regulation of Müllerian development...
January 2018: Human Mutation
https://www.readbyqxmd.com/read/28973382/ziram-delays-pubertal-development-of-rat-leydig-cells
#19
Xiaoling Guo, Songyi Zhou, Yong Chen, Xianwu Chen, Jianpeng Liu, Fei Ge, Qingquan Lian, Xiaomin Chen, Ren-Shan Ge
Ziram [zinc, bis (dimethyldithiocarbamate)] is an agricultural dithiocarbamate fungicide. By virtual screening, we have identified that ziram is a potential endocrine disruptor. To investigate its effects on pubertal development of Leydig cells, 35-day-old male Sprague Dawley rats orally received ziram (2 or 4 mg/kg/d) for 4 weeks and immature Leydig cells isolated from 35-day-old rat testes were treated with ziram (0.5-50 μM in vitro). Serum hormones, Leydig cell number and specific gene or protein expression levels after in vivo treatment were determined and medium androgen levels were measured as well as apoptosis of Leydig cells after in vitro treatment were determined...
December 1, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/28893949/timing-of-adrenal-regression-controlled-by-synergistic-interaction-between-sf1-sumoylation-and-dax1
#20
Yewei Xing, Ken-Ichirou Morohashi, Holly A Ingraham, Gary D Hammer
The nuclear receptor steroidogenic factor 1 (Sf1, Nr5a1, Ad4bp) is crucial for formation, development and function of steroidogenic tissues. A fetal adrenal enhancer (FAdE) in the Sf1 gene was previously identified to direct Sf1 expression exclusively in the fetal adrenal cortex and is bound by both Sf1 and Dax1. Here, we have examined the function of Sf1 SUMOylation and its interaction with Dax1 on FAdE function . A diffused prolonged pattern of FAdE expression and delayed regression of the postnatal fetal cortex (X-zone) were detected in both the SUMOylation-deficient- Sf12KR/2KR and Dax1 knockout mouse lines, with FAdE expression/activity retained in the postnatal 20αHSD-positive postnatal X-zone cells...
October 15, 2017: Development
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