Littérature scientifique sur le sujet « Nr5a1 »
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Articles de revues sur le sujet "Nr5a1"
Shi, Boyang, Huijie Lu, Lihong Zhang et Weimin Zhang. « Nr5a1b promotes and Nr5a2 inhibits transcription of lhb in the orange-spotted grouper, Epinephelus coioides† ». Biology of Reproduction 101, no 4 (17 juillet 2019) : 800–812. http://dx.doi.org/10.1093/biolre/ioz121.
Texte intégralKUO, Ming-Wei, John POSTLETHWAIT, Wen-Chih LEE, Show-Wan LOU, Woon-Khiong CHAN et Bon-chu CHUNG. « Gene duplication, gene loss and evolution of expression domains in the vertebrate nuclear receptor NR5A (Ftz-F1) family ». Biochemical Journal 389, no 1 (21 juin 2005) : 19–26. http://dx.doi.org/10.1042/bj20050005.
Texte intégralSuyama, Atsuhito, Nahoko Iwata, Yoshiaki Soejima, Yasuhiro Nakano, Koichiro Yamamoto, Takahiro Nada et Fumio Otsuka. « Involvement of NR5A1 and NR5A2 in the Regulation of Steroidogenesis by Clock Gene and BMPs by Human Granulosa Cells ». Journal of the Endocrine Society 5, Supplement_1 (1 mai 2021) : A768. http://dx.doi.org/10.1210/jendso/bvab048.1562.
Texte intégralSuzuki, Taiga, Megumi Kasahara, Hidefumi Yoshioka, Ken-ichirou Morohashi et Kazuhiko Umesono. « LXXLL-Related Motifs in Dax-1 Have Target Specificity for the Orphan Nuclear Receptors Ad4BP/SF-1 and LRH-1 ». Molecular and Cellular Biology 23, no 1 (1 janvier 2003) : 238–49. http://dx.doi.org/10.1128/mcb.23.1.238-249.2003.
Texte intégralMartin, Luc J., et Jacques J. Tremblay. « Glucocorticoids antagonize cAMP-induced Star transcription in Leydig cells through the orphan nuclear receptor NR4A1 ». Journal of Molecular Endocrinology 41, no 3 (1 juillet 2008) : 165–75. http://dx.doi.org/10.1677/jme-07-0145.
Texte intégralEmura, Natsuko, Chiung-Min Wang, William Harry Yang et Wei-Hsiung Yang. « Steroidogenic Factor 1 (NR5A1) Activates ATF3 Transcriptional Activity ». International Journal of Molecular Sciences 21, no 4 (20 février 2020) : 1429. http://dx.doi.org/10.3390/ijms21041429.
Texte intégralMorohashi, Ken-ichirou, Miki Inoue et Takashi Baba. « Coordination of Multiple Cellular Processes by NR5A1/Nr5a1 ». Endocrinology and Metabolism 35, no 4 (31 décembre 2020) : 756–64. http://dx.doi.org/10.3803/enm.2020.402.
Texte intégralLuppino, Giovanni, Malgorzata Wasniewska, Roberto Coco, Giorgia Pepe, Letteria Anna Morabito, Alessandra Li Pomi, Domenico Corica et Tommaso Aversa. « Role of NR5A1 Gene Mutations in Disorders of Sex Development : Molecular and Clinical Features ». Current Issues in Molecular Biology 46, no 5 (9 mai 2024) : 4519–32. http://dx.doi.org/10.3390/cimb46050274.
Texte intégralDomenice, Sorahia, Aline Zamboni Machado, Frederico Moraes Ferreira, Bruno Ferraz‐de‐Souza, Antonio Marcondes Lerario, Lin Lin, Mirian Yumie Nishi et al. « Wide spectrum of NR5A1‐related phenotypes in 46,XY and 46,XX individuals ». Birth Defects Research Part C : Embryo Today : Reviews 108, no 4 (décembre 2016) : 309–20. http://dx.doi.org/10.1002/bdrc.21145.
Texte intégralShima, Yuichi, Kanako Miyabayashi, Takami Mori, Koji Ono, Mizuki Kajimoto, Hae Lim Cho, Hitomi Tsuchida et al. « Intronic Enhancer Is Essential for Nr5a1 Expression in The Pituitary Gonadotrope and for Postnatal Development of Male Reproductive Organs in a Mouse Model ». International Journal of Molecular Sciences 24, no 1 (22 décembre 2022) : 192. http://dx.doi.org/10.3390/ijms24010192.
Texte intégralThèses sur le sujet "Nr5a1"
Fabbri-Scallet, Helena 1987. « Análise molecular do gene NR5A1 em pacientes 46,XY com distúrbios da diferenciação do sexo ». [s.n.], 2013. http://repositorio.unicamp.br/jspui/handle/REPOSIP/317065.
Texte intégralDissertação (mestrado) - Universidade Estadual de Campinas, Instituto de Biologia
Made available in DSpace on 2018-08-22T17:47:27Z (GMT). No. of bitstreams: 1 Fabbri_HelenaCampos_M.pdf: 5693726 bytes, checksum: f3da0b3f4f94d25ac46393e9f831a748 (MD5) Previous issue date: 2013
Resumo: O termo Distúrbio da Diferenciação do Sexo (DDS) caracteriza-se pelo desenvolvimento genital ou gonadal incompleto ou desordenado. Os DDS com cariótipo 46,XY são caracterizados por genitália externa ambígua ou feminina, em alguns casos com gônadas disgenéticas, e presença ou ausência de derivados de Müller. Os mais frequentes são a insensibilidade androgênica, deficiência da 5-alfa-redutase tipo 2, disgenesia gonadal e DDS ovário-testicular. Vários são os genes que participam dos processos de determinação e diferenciação do sexo. Alterações no gene NR5A1, que codifica o fator de transcrição SF- 1, é responsável por diferentes fenótipos de DDS. A proteína SF-1 é expressa principalmente em tecidos esteroidogênicos (gônadas, adrenais e placenta), nas células de Sertoli, nas células de Leydig e nos ovários; é o principal regulador do metabolismo do colesterol nas células esteroidogênicas. Além disso, regula a atividade de outros genes, como os CYPs, HSD3B, StAR, SOX9, DAX1, entre outros. Na literatura são descritas alterações no gene NR5A1 associadas à DDS 46,XY, anorquia bilateral, amenorréia primária, falência ovariana precoce, hipospádia, infertilidade masculina, e alguns casos de tumores adrenais e endometrioses. Neste trabalho foi realizada a análise molecular do gene NR5A1 em 86 pacientes com DDS 46,XY, incluindo-se disgenesia gonadal completa (n = 7), disgenesia gonadal parcial (n = 18), DDS 46,XY idiopático (n = 41) e outros (n = 20). Doze alterações foram identificadas neste trabalho, sendo: sete na região codificante (p.Ser32Asn, p.Arg39Cis, p.Lis38*, p.Cis65Tir, p.L80Wfs*8, p.Cis247*, and p.Asp364Trefs*18), uma em sítio de splicing (c.1138+1G>T), duas no exon 1 nãocodificante (c.-133G>A e c.-156_-136ins18pb), três na região 5'UTR (c.-413G>A, c.- 208C>A, e c.-762C>T) e uma na região 3'UTR (c.*1286C>T). As variações aqui descritas, não foram identificadas em controles saudáveis. As análises in silico demonstraram o possível efeito deletério de cada alteração e, suas relações com o fenótipo dos indivíduos. Embora estes resultados demonstrem a importância de cada alteração para o fenótipo, haverá ainda a necessidade de se investigar os efeitos funcionais in vitro. As alterações com potencial deletério foram identificadas em maior frequência nos casos dos distúrbios da diferenciação gonadal (20%) e DDS 46,XY idiopático (22%)
Abstract: The term Disorders of Sex Differentiation (DSD) characterize incomplete or disorganized genital or gonadal development. The DSD with 46, XY karyotype may present either ambiguous or female genitalia and also dysgenetic gonads in some cases, with presence or absence of Müllerian derivatives. The most frequent are androgen insensitivity, 5-alpha-reductase type 2 deficiency, gonadal dysgenesis and ovarian-testicular DSD. There are several genes that participate in both sex determination and differentiation processes. Mutations in NR5A1 gene, which encoding SF-1, a transcription factor, are responsible for different phenotypes of DSD. The protein SF-1, which is expressed mainly in steroidogenic tissues (gonads, adrenal glands and placenta), is also express in Sertoli and Leydig cells, in the ovaries, and is the major regulator of cholesterol metabolism in steroidogenic cells. Moreover, it regulates the activity of other genes, such as CYPs, HSD3B, StAR, SOX9, DAX1, among others. The literature describes the association of changes in NR5A1 gene with 46, XY DSD, bilateral anorchia, primary amenorrhea, premature ovarian failure, hypospadias, male infertility, and some cases of adrenal tumors and endometriosis. The present work involved the molecular analysis of NR5A1 gene in 86 patients with 46, XY DSD including complete gonadal dysgenesis (n = 7), partial gonadal dysgenesis (n = 18), idiopathic 46, XY DSD (n = 41) and others (n = 20). Twelve variations had been identified: seven in the coding region (p.Ser32Asn, p.Arg39Cis, p.Lis38*, p.Cis65Tir, p.L80Wfs*8, p.Cis247*, and p.Asp364Trefs*18), one at a splice site (c.1138+1 G>T), two in the noncoding exon 1 (c.-133G>A and c.-156_-136ins18pb), three in the 5'UTR region (c.- 413G>A, c.-208C>A and c.-762C>T) and one in the 3'UTR (c.*1286C>T). The variations herein described, have not been identified in healthy controls. In silico analysis showed possible deleterious effects for each change and its correlations to individual phenotypes. Although those results demonstrate the importance of each change for the phenotype, there in vitro functional effects must be investigated. The potentially deleterious changes were identified more frequently in cases of disorders of gonadal development (20%) and idiopathic 46, XY DSD (22%)
Mestrado
Genetica Animal e Evolução
Mestra em Genética e Biologia Molecular
Astudillo, Rebekka Anna-Maria [Verfasser]. « Funktionelle Charakterisierung von heterozygoten Mutationen des Steroidogenetischen Faktors 1 (SF1/NR5A1) bei 46,XY Störungen der Geschlechtsentwicklung / Rebekka Anna-Maria Astudillo ». Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2021. http://d-nb.info/1241538085/34.
Texte intégralKöhler, Birgit [Verfasser]. « XY Störungen der Geschlechtsentwicklung (XY DSD) : die Rolle des Wilms-Tumorsuppressorgens (WT1) und des „Steroidogenic Factor 1“ (NR5A1, SF1) sowie Langzeitergebnisse / Birgit Köhler ». Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2013. http://d-nb.info/1043480951/34.
Texte intégralTantawy, Sally [Verfasser]. « Untersuchung des Steroidogenic Factor 1 kodierenden Gens NR5A1 in einer Kohorte von 50 ägyptischen Patienten mit 46,XY Störungen der Geschlechtsentwicklung / Sally Moustafa Elsayed Tantawy ». Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2017. http://d-nb.info/1133074278/34.
Texte intégralTantawy, Sally Moustafa Elsayed [Verfasser]. « Untersuchung des Steroidogenic Factor 1 kodierenden Gens NR5A1 in einer Kohorte von 50 ägyptischen Patienten mit 46,XY Störungen der Geschlechtsentwicklung / Sally Moustafa Elsayed Tantawy ». Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2017. http://d-nb.info/1133074278/34.
Texte intégralGarner, Hannah Claire. « The role of Nr4a1 in the development of Ly6Clow monocytes ». Thesis, King's College London (University of London), 2016. https://kclpure.kcl.ac.uk/portal/en/theses/the-role-of-nr4a1-in-the-development-of-ly6clow-monocytes(bdc403c1-200f-4b12-8617-4cc23ce46171).html.
Texte intégralHofsten, Jonas von. « Developmental and reproductive regulation of NR5A genes in teleosts ». Doctoral thesis, Umeå : Univ, 2004. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-374.
Texte intégralWilcots, Josiah. « Determination of induction of Nur77 (NR4A1), Nor1 (NR4A3), and Nurr1 (NR4A2) ». Master's thesis, Mississippi State : Mississippi State University, 2009. http://library.msstate.edu/etd/show.asp?etd=etd-04032009-165154.
Texte intégralSchwaderer, Juliane [Verfasser]. « LRH-1/NR5a2 in regulation of the immune system / Juliane Schwaderer ». Konstanz : Bibliothek der Universität Konstanz, 2017. http://d-nb.info/1140736418/34.
Texte intégralEdey, Caitlin. « Retinoid-mediated Regulation of NR6A1, Prickle1 and Ror2 During Development of the Mouse Embryo ». Thèse, Université d'Ottawa / University of Ottawa, 2012. http://hdl.handle.net/10393/23609.
Texte intégralChapitres de livres sur le sujet "Nr5a1"
Grgurevic, Neza, et Gregor Majdic. « NR5a1 ». Dans Encyclopedia of Signaling Molecules, 3574–84. Cham : Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-67199-4_101872.
Texte intégralGrgurevic, Neza, et Gregor Majdic. « NR5a1 ». Dans Encyclopedia of Signaling Molecules, 1–11. New York, NY : Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4614-6438-9_101872-1.
Texte intégralMcElreavey, Ken, et Anu Bashamboo. « Steroidogenic Factor 1 (SF-1 ; NR5A1) ». Dans Encyclopedia of Endocrine Diseases, 415–20. Elsevier, 2019. http://dx.doi.org/10.1016/b978-0-12-801238-3.65242-x.
Texte intégralBashamboo, A., L. Lin, B. Ferraz de Souza, D. Lourenco, D. Montjean, C. Ravel, H. Rouba, J. Achermann et K. McElreavey. « Mutations in NR5A1 Encoding Steroidogenic Factor 1 Are Associated with Spermatogenic Failure. » Dans The Endocrine Society's 92nd Annual Meeting, June 19–22, 2010 - San Diego, P2–367—P2–367. Endocrine Society, 2010. http://dx.doi.org/10.1210/endo-meetings.2010.part2.p8.p2-367.
Texte intégralFerraz-de-Souza, B., L. Lin et JC Achermann. « A Role for Steroidogenic Factor-1 (SF-1, NR5A1, Ad4BP) in Adrenal Angiogenesis. » Dans The Endocrine Society's 92nd Annual Meeting, June 19–22, 2010 - San Diego, P1–612—P1–612. Endocrine Society, 2010. http://dx.doi.org/10.1210/endo-meetings.2010.part1.p13.p1-612.
Texte intégralFranca, Monica Malheiros, Mariza Gerdulo Santos et Claudimara Ferini Pacicco Lotfi. « Sf-1/NR5A1 and Pod-1/TCF21 Expression in Different Human Adrenocortical Tumor Cell Cultures ». Dans The Endocrine Society's 93rd Annual Meeting & ; Expo, June 4–7, 2011 - Boston, P1–628—P1–628. The Endocrine Society, 2011. http://dx.doi.org/10.1210/endo-meetings.2011.part2.p14.p1-628.
Texte intégral« SF-1 (Ftz-F1, fushi tarazu factor homolog, nuclear receptor subfamily 5 group A member 1[NR5A1]) ». Dans Encyclopedia of Genetics, Genomics, Proteomics and Informatics, 1801. Dordrecht : Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_15507.
Texte intégralLin, Lin, Rahul Parnaik, Bruno Ferraz-de-Souza et John C. Achermann. « Novel Interacting Proteins for Steroidogenic Factor-1 (SF-1, NR5A1, Ad4BP) in the Developing Human Adrenal Gland ». Dans BASIC/TRANSLATIONAL - Gene Regulation : Inflammation, Stress & ; Metabolism, P3–85—P3–85. The Endocrine Society, 2011. http://dx.doi.org/10.1210/endo-meetings.2011.part3.p21.p3-85.
Texte intégralEl-Khairi, Ranna, Alejandro Martinez-Aguayo, Bruno Ferraz-de-Souza, Lin Lin et John C. Achermann. « Role of DAX-1 (NR0B1) and Steroidogenic Factor-1 (NR5A1) in Human Adrenal Function ». Dans Pediatric Adrenal Diseases, 38–46. S. Karger AG, 2010. http://dx.doi.org/10.1159/000321213.
Texte intégralDemura, Masashi, Fen Wang, Takashi Yoneda, Shigehiro Karashima, Shunsuke Mori, Masashi Oe, Mitsuhiro Kometani et al. « Multiple Noncoding Exons 1 of Nuclear Receptors NR4A Family (NGFIB,NURR1,NOR1) and NR5A1 (SF1) in Human Vascular and Adrenal Tissues ». Dans BASIC - Regulation of Nuclear Receptors & ; Gene Expression, P2–8—P2–8. The Endocrine Society, 2011. http://dx.doi.org/10.1210/endo-meetings.2011.part2.p21.p2-8.
Texte intégralActes de conférences sur le sujet "Nr5a1"
Wang, Chiung-Min, Victoria Brennan, Ninoska Gutierrez, Xirui Wang, Lizhong Wang et Wei-Hsiung Yang. « Abstract 763A : SUMOylation of ATF3 alters MC2R, NR5A1, STAR, and TP53 gene activities. » Dans Proceedings : AACR 104th Annual Meeting 2013 ; Apr 6-10, 2013 ; Washington, DC. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1538-7445.am2013-763a.
Texte intégralMAIA DE SOUSA, LIZANDRA, MARICILDA PALANDI DE MELLO et Luiz Filipe Barbosa-Martins. « BUSCA DE NOVAS MUTAÇÕES NO GENE NR5A1 EM UM GRUPO DE HOMENS INFÉRTEIS. » Dans XXIV Congresso de Iniciação Científica da UNICAMP - 2016. Campinas - SP, Brazil : Galoa, 2016. http://dx.doi.org/10.19146/pibic-2016-50634.
Texte intégralJin, Jingling, Roma Patel, Nan Ge Jin, Yan Shi, Wenjing Sun, Jianhua Yang, Jed G. Nuchtern et Sanjeev A. Vasudevan. « Abstract B16 : NR5A2 as a potential therapeutic target for hepatoblastoma ». Dans Abstracts : AACR Special Conference : Advances in Pediatric Cancer Research : From Mechanisms and Models to Treatment and Survivorship ; November 9-12, 2015 ; Fort Lauderdale, Florida. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7445.pedca15-b16.
Texte intégralNissim, Sahar, Julia Wucherpfennig, Xiao-Xu Wang, Alec Kimmelman et Wolfram Goessling. « Abstract 1953 : The role of NR5a2 in pancreas development and carcinogenesis ». Dans Proceedings : AACR Annual Meeting 2014 ; April 5-9, 2014 ; San Diego, CA. American Association for Cancer Research, 2014. http://dx.doi.org/10.1158/1538-7445.am2014-1953.
Texte intégralNissim, Sahar, Julia Wucherpfennig, Xiao-Xu Wang, Alec Kimmelman et Wolfram Goessling. « Abstract 2657 : The role of NR5A2 in pancreas development and oncogenesis. » Dans Proceedings : AACR 104th Annual Meeting 2013 ; Apr 6-10, 2013 ; Washington, DC. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1538-7445.am2013-2657.
Texte intégralBeeghly-Fadiel, Alicia, Dajah Chase, Johnathan Cooks, Marta Crispens, Dineo Khabele et Andrew J. Wilson. « Abstract A42 : TR3/NR4A1 as a therapeutic target for ovarian cancer ». Dans Abstracts : AACR Special Conference : Addressing Critical Questions in Ovarian Cancer Research and Treatment ; October 1-4, 2017 ; Pittsburgh, PA. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1557-3265.ovca17-a42.
Texte intégralNissim, Sahar, Olivia Weeks, John Hedgepeth, Julia Wucherpfennig, Xiao-Xu Wang, Alec Kimmelman et Wolfram Goessling. « Abstract 5148 : NR5A2 is essential for pancreas development and affects pancreas carcinogenesis ». Dans Proceedings : AACR 106th Annual Meeting 2015 ; April 18-22, 2015 ; Philadelphia, PA. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.am2015-5148.
Texte intégralBeeghly-Fadiel, Alicia, Johnathan Cooks, Dajah Chase, Marta Crispens, Dineo Khabele et Andrew J. Wilson. « Abstract NT-088 : PROGNOSTIC SIGNIFICANCE OF NR4A1/TR3 EXPRESSION IN OVARIAN CANCER ». Dans Abstracts : 12th Biennial Ovarian Cancer Research Symposium ; September 13-15, 2018 ; Seattle, Washington. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1557-3265.ovcasymp18-nt-088.
Texte intégralMohankumar, Kumaravel, Keshav Karki, Stephen Safe et Maen Abdelrahim. « Abstract 1149 : Nuclear receptor 4A1 (NR4A1) antagonists target PD-L1 in colon cancer ». Dans Proceedings : AACR Annual Meeting 2021 ; April 10-15, 2021 and May 17-21, 2021 ; Philadelphia, PA. American Association for Cancer Research, 2021. http://dx.doi.org/10.1158/1538-7445.am2021-1149.
Texte intégralKarki, Keshav, Gus Wright, Jin Un-Ho, Kumaravel Mohankumar, Xing Zhang et Stephen Safe. « Abstract B41 : Bis-indole derived NR4A1 antagonist induces PD-L1 degradation and enhances antitumor immunity ». Dans Abstracts : AACR Special Conference on Tumor Immunology and Immunotherapy ; November 17-20, 2019 ; Boston, MA. American Association for Cancer Research, 2020. http://dx.doi.org/10.1158/2326-6074.tumimm19-b41.
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