Статті в журналах з теми "Nr5a1"
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Shi, Boyang, Huijie Lu, Lihong Zhang, and Weimin Zhang. "Nr5a1b promotes and Nr5a2 inhibits transcription of lhb in the orange-spotted grouper, Epinephelus coioides†." Biology of Reproduction 101, no. 4 (July 17, 2019): 800–812. http://dx.doi.org/10.1093/biolre/ioz121.
KUO, Ming-Wei, John POSTLETHWAIT, Wen-Chih LEE, Show-Wan LOU, Woon-Khiong CHAN, and 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 (June 21, 2005): 19–26. http://dx.doi.org/10.1042/bj20050005.
Suyama, Atsuhito, Nahoko Iwata, Yoshiaki Soejima, Yasuhiro Nakano, Koichiro Yamamoto, Takahiro Nada, and 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 (May 1, 2021): A768. http://dx.doi.org/10.1210/jendso/bvab048.1562.
Suzuki, Taiga, Megumi Kasahara, Hidefumi Yoshioka, Ken-ichirou Morohashi, and 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 (January 1, 2003): 238–49. http://dx.doi.org/10.1128/mcb.23.1.238-249.2003.
Martin, Luc J., and 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 (July 1, 2008): 165–75. http://dx.doi.org/10.1677/jme-07-0145.
Emura, Natsuko, Chiung-Min Wang, William Harry Yang, and Wei-Hsiung Yang. "Steroidogenic Factor 1 (NR5A1) Activates ATF3 Transcriptional Activity." International Journal of Molecular Sciences 21, no. 4 (February 20, 2020): 1429. http://dx.doi.org/10.3390/ijms21041429.
Morohashi, Ken-ichirou, Miki Inoue, and Takashi Baba. "Coordination of Multiple Cellular Processes by NR5A1/Nr5a1." Endocrinology and Metabolism 35, no. 4 (December 31, 2020): 756–64. http://dx.doi.org/10.3803/enm.2020.402.
Luppino, Giovanni, Malgorzata Wasniewska, Roberto Coco, Giorgia Pepe, Letteria Anna Morabito, Alessandra Li Pomi, Domenico Corica, and Tommaso Aversa. "Role of NR5A1 Gene Mutations in Disorders of Sex Development: Molecular and Clinical Features." Current Issues in Molecular Biology 46, no. 5 (May 9, 2024): 4519–32. http://dx.doi.org/10.3390/cimb46050274.
Domenice, 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 (December 2016): 309–20. http://dx.doi.org/10.1002/bdrc.21145.
Shima, 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 (December 22, 2022): 192. http://dx.doi.org/10.3390/ijms24010192.
Martínez de LaPiscina, Idoia, Rana AA Mahmoud, Kay-Sara Sauter, Isabel Esteva, Milagros Alonso, Ines Costa, Jose Manuel Rial-Rodriguez, et al. "Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1." International Journal of Molecular Sciences 21, no. 22 (November 13, 2020): 8554. http://dx.doi.org/10.3390/ijms21228554.
Tanaka, Tomoko, Chikao Aoyagi, Toshihiko Yanase, and Shohta Kodama. "ODP045 Implantation of Steroidogenic Cells Derived from Human Adipose-derived Stem Cells Extends Survival in a Mouse Model of Adrenal Insufficiency." Journal of the Endocrine Society 6, Supplement_1 (November 1, 2022): A60. http://dx.doi.org/10.1210/jendso/bvac150.124.
Tantawy, Sally, Inas Mazen, Hala Soliman, Ghada Anwar, Abeer Atef, Mona El-Gammal, Ahmed El-Kotoury, et al. "Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development." European Journal of Endocrinology 170, no. 5 (May 2014): 759–67. http://dx.doi.org/10.1530/eje-13-0965.
Faienza, Maria F., Mariangela Chiarito, Fulvia Baldinotti, Domenico Canale, Carmela Savino, Guglielmo Paradies, Domenico Corica, et al. "NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different Outcomes." Sexual Development 13, no. 5-6 (2019): 258–63. http://dx.doi.org/10.1159/000507411.
Sakai, Noriko, Hiromi Terami, Shinobu Suzuki, Megumi Haga, Ken Nomoto, Nobuko Tsuchida, Ken-ichirou Morohashi, et al. "Identification of NR5A1 (SF-1/AD4BP) gene expression modulators by large-scale gain and loss of function studies." Journal of Endocrinology 198, no. 3 (June 25, 2008): 489–97. http://dx.doi.org/10.1677/joe-08-0027.
Martinez de Lapiscina, Idoia, Chrysanthi Kouri, Josu Aurrekoetxea, Mirian Sanchez, Rawda Naamneh Elzenaty, Kay-Sara Sauter, Núria Camats, et al. "Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations." PLOS ONE 18, no. 7 (July 11, 2023): e0287515. http://dx.doi.org/10.1371/journal.pone.0287515.
Camats, N., A. V. Pandey, M. Fernández-Cancio, P. Andaluz, M. Janner, N. Torán, F. Moreno, et al. "Ten Novel Mutations in the NR5A1 Gene Cause Disordered Sex Development in 46,XY and Ovarian Insufficiency in 46,XX Individuals." Journal of Clinical Endocrinology & Metabolism 97, no. 7 (July 1, 2012): E1294—E1306. http://dx.doi.org/10.1210/jc.2011-3169.
Kato, Tomoko, Michiyo Esaki, Ayami Matsuzawa, and Yayoi Ikeda. "NR5A1 is required for functional maturation of Sertoli cells during postnatal development." REPRODUCTION 143, no. 5 (May 2012): 663–72. http://dx.doi.org/10.1530/rep-11-0365.
Köhler, Birgit, Lin Lin, Inas Mazen, Cigdem Cetindag, Heike Biebermann, Ilker Akkurt, Rainer Rossi, Olaf Hiort, Annette Grüters, and John C. Achermann. "The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency." European Journal of Endocrinology 161, no. 2 (August 2009): 237–42. http://dx.doi.org/10.1530/eje-09-0067.
Kherouatou-Chaoui, Naouel, Djalila Chellat-Rezgoune, Mohamed Larbi Rezgoune, Ken Mc Elreavey, Laaldja Souhem Touabti, Noreddine Abadi, and Dalila Satta. "SRY and NR5A1 gene mutation in Algerian children and adolescents with DSD and testicular dysgenesis." African Health Sciences 21, no. 3 (September 27, 2021): 1491–97. http://dx.doi.org/10.4314/ahs.v21i3.61.
Orekhova, Anna S., Natalia Kalinchenko, Ivan A. Morozov, Evgeny V. Vasilyev, Petr M. Rubtsov, Ivan I. Dedov, and Anatoly Tiulpakov. "A Novel Mutation in the Critical P-Box Residue of Steroidogenic Factor-1 Presenting with XY Sex Reversal and Transient Adrenal Failure." Hormone Research in Paediatrics 89, no. 6 (November 17, 2017): 450–54. http://dx.doi.org/10.1159/000481776.
Piprek, Rafal P., Izabela Rams-Pociecha, Robert Zdanowski, Malgorzata Kloc, and Jacek Z. Kubiak. "Desmoplakin (Dsp) conditional knockout in NR5A1+ somatic cells affects germ cell survival in developing mouse gonads." Reproduction 163, no. 4 (April 1, 2022): 199–207. http://dx.doi.org/10.1530/rep-21-0295.
Hattori, Atsushi, and Maki Fukami. "Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development." Biomolecules 13, no. 4 (April 19, 2023): 691. http://dx.doi.org/10.3390/biom13040691.
Meinsohn, Marie-Charlotte, Olivia E. Smith, Kalyne Bertolin, and Bruce D. Murphy. "The Orphan Nuclear Receptors Steroidogenic Factor-1 and Liver Receptor Homolog-1: Structure, Regulation, and Essential Roles in Mammalian Reproduction." Physiological Reviews 99, no. 2 (April 1, 2019): 1249–79. http://dx.doi.org/10.1152/physrev.00019.2018.
Wei, Xianzhen, Shan Li, and Yu He. "NR5A1-related 46,XY partial gonadal dysgenesis: A case report and literature review." Medicine 102, no. 52 (December 29, 2023): e36725. http://dx.doi.org/10.1097/md.0000000000036725.
Minh Duc, Bui, Luong Thi Lan Anh, Nong Van Hai, and Nguyen Thuy Duong. "Association study of NR5A1 rs1110061 with infertile male in 401 Vietnamese individuals." Vietnam Journal of Biotechnology 19, no. 4 (May 3, 2022): 625–31. http://dx.doi.org/10.15625/1811-4989/16358.
Mönig, Isabel, Julia Schneidewind, Trine H. Johannsen, Anders Juul, Ralf Werner, Ralf Lünstedt, Wiebke Birnbaum, Louise Marshall, Lutz Wünsch, and Olaf Hiort. "Pubertal development in 46,XY patients with NR5A1 mutations." Endocrine 75, no. 2 (October 6, 2021): 601–13. http://dx.doi.org/10.1007/s12020-021-02883-y.
Kelly, Victoria R., Bin Xu, Rork Kuick, Ronald J. Koenig, and Gary D. Hammer. "Dax1 Up-Regulates Oct4 Expression in Mouse Embryonic Stem Cells via LRH-1 and SRA." Molecular Endocrinology 24, no. 12 (December 1, 2010): 2281–91. http://dx.doi.org/10.1210/me.2010-0133.
Lin, Lin, Pascal Philibert, Bruno Ferraz-de-Souza, Daniel Kelberman, Tessa Homfray, Assunta Albanese, Veruska Molini, et al. "Heterozygous Missense Mutations in Steroidogenic Factor 1 (SF1/Ad4BP, NR5A1) Are Associated with 46,XY Disorders of Sex Development with Normal Adrenal Function." Journal of Clinical Endocrinology & Metabolism 92, no. 3 (March 1, 2007): 991–99. http://dx.doi.org/10.1210/jc.2006-1672.
Fan, Jinjiang, Enrico Campioli, Andrew Midzak, Martine Culty, and Vassilios Papadopoulos. "Conditional steroidogenic cell-targeted deletion of TSPO unveils a crucial role in viability and hormone-dependent steroid formation." Proceedings of the National Academy of Sciences 112, no. 23 (May 26, 2015): 7261–66. http://dx.doi.org/10.1073/pnas.1502670112.
Guzmán, Adrian, Camilla H. K. Hughes, and Bruce D. Murphy. "Orphan nuclear receptors in angiogenesis and follicular development." Reproduction 162, no. 3 (September 1, 2021): R35—R54. http://dx.doi.org/10.1530/rep-21-0118.
Abisad, Daniela Aguilar, Andrea Montano Ballesteros, and Alejandro Diaz. "RF02 | PMON309 Two Siblings with p.Arg92Trp Variant in NR5A1 Presenting with Testicular Disorder of Sexual Differentiation." Journal of the Endocrine Society 6, Supplement_1 (November 1, 2022): A709—A710. http://dx.doi.org/10.1210/jendso/bvac150.1462.
Lourenço, Diana, Raja Brauner, Lin Lin, Arantzazu De Perdigo, Georges Weryha, Mihaela Muresan, Radia Boudjenah, et al. "Mutations in NR5A1 Associated With Ovarian Insufficiency." Obstetrical & Gynecological Survey 64, no. 10 (October 2009): 665–66. http://dx.doi.org/10.1097/01.ogx.0000359268.91477.36.
de Oliveira, Felipe Rodrigues, Taís Nitsch Mazzola, Maricilda Palandi de Mello, Ana Paula Francese-Santos, Sofia Helena V. de Lemos-Marini, Andrea Trevas Maciel-Guerra, Olaf Hiort, Ralf Werner, Gil Guerra-Junior, and Helena Fabbri-Scallet. "DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis." Life 13, no. 5 (April 27, 2023): 1093. http://dx.doi.org/10.3390/life13051093.
Mello, Maricilda Palandi de, Emerson Salvador de Souza França, Helena Campos Fabbri, Andréa Trevas Maciel-Guerra, and Gil Guerra-Júnior. "Multifunctional role of steroidogenic factor 1 and disorders of sex development." Arquivos Brasileiros de Endocrinologia & Metabologia 55, no. 8 (November 2011): 607–12. http://dx.doi.org/10.1590/s0004-27302011000800015.
Kalinchenko, Natalia Yur'evna, Tatiana Aleksandrovna Anosova, Vitaliy Alekseevich Ioutsi, and Anatoly Nikolaevich Tiulpakov. "The first clinical presentation of disorders of sex development 46 XY due to mutation in Steroidogenic factor 1 (SF1) in Russian Literature." Problems of Endocrinology 62, no. 1 (January 13, 2016): 55–59. http://dx.doi.org/10.14341/probl201662155-59.
Morales-Miranda, A., F. Vilchis, B. Chávez, C. Chan, G. Robles-Díaz, and V. Díaz-Sánchez. "EXPRESSION OF NR5A1/SF-1, NR5A2/SF-2, CYP11A1 (P450SCC) AND STAR PROTEIN IN NORMAL HUMAN PANCREAS." Pancreas 29, no. 4 (November 2004): 346. http://dx.doi.org/10.1097/00006676-200411000-00085.
Kalinchenko, Natalia Yu, Anna A. Kolodkina, Nadezda Y. Raygorodskaya, and Anatoly N. Tiulpakov. "Clinical and molecular characteristics of patients with 46,XY DSD due to NR5A1 gene mutations." Problems of Endocrinology 66, no. 3 (September 16, 2020): 62–69. http://dx.doi.org/10.14341/probl12445.
Zheng, Weiming, Jingying Yang, Qiaorong Jiang, Zhibin He, and Lisa M. Halvorson. "Liver receptor homologue-1 regulates gonadotrope function." Journal of Molecular Endocrinology 38, no. 2 (February 2007): 207–19. http://dx.doi.org/10.1677/jme-06-0001.
Shi, Boyang, Huijie Lu, Lihong Zhang, and Weimin Zhang. "A homologue of Nr5a1 activates cyp19a1a transcription additively with Nr5a2 in ovarian follicular cells of the orange-spotted grouper." Molecular and Cellular Endocrinology 460 (January 2018): 85–93. http://dx.doi.org/10.1016/j.mce.2017.07.008.
Ferraz-de-Souza, Bruno, Lin Lin, and John C. Achermann. "Steroidogenic factor-1 (SF-1, NR5A1) and human disease." Molecular and Cellular Endocrinology 336, no. 1-2 (April 2011): 198–205. http://dx.doi.org/10.1016/j.mce.2010.11.006.
Werner, Ralf, Isabel Mönig, Ralf Lünstedt, Lutz Wünsch, Christoph Thorns, Benedikt Reiz, Alexandra Krause, et al. "New NR5A1 mutations and phenotypic variations of gonadal dysgenesis." PLOS ONE 12, no. 5 (May 1, 2017): e0176720. http://dx.doi.org/10.1371/journal.pone.0176720.
Zhu, Zhengya, Zhongyuan He, Tao Tang, Fuan Wang, Hongkun Chen, Baoliang Li, Guoliang Chen, et al. "Integrative Bioinformatics Analysis Revealed Mitochondrial Dysfunction-Related Genes Underlying Intervertebral Disc Degeneration." Oxidative Medicine and Cellular Longevity 2022 (October 11, 2022): 1–35. http://dx.doi.org/10.1155/2022/1372483.
Lalli, Enzo. "Adrenocortical development and cancer: focus on SF-1." Journal of Molecular Endocrinology 44, no. 6 (March 3, 2010): 301–7. http://dx.doi.org/10.1677/jme-09-0143.
Hu, S. C., J. Ye, A. K. Fathi, X. Fu, S. Huang, Q. Ning, and X. P. Luo. "Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism." Genetics and Molecular Research 11, no. 4 (2012): 4575–84. http://dx.doi.org/10.4238/2012.october.9.6.
Bashamboo, A., and K. McElreavey. "NR5A1/SF-1 and development and function of the ovary." Annales d'Endocrinologie 71, no. 3 (May 2010): 177–82. http://dx.doi.org/10.1016/j.ando.2010.02.013.
Métivier, Raphaël, Yves Le Dréan, Gilles Salbert, and Farzad Pakdel. "Interplay between liganded and orphan nuclear receptors controls reproductive pathways." Biochemistry and Cell Biology 78, no. 3 (April 2, 2000): 345–58. http://dx.doi.org/10.1139/o00-057.
Whitby, Richard J., Jozef Stec, Raymond D. Blind, Sally Dixon, Lisa M. Leesnitzer, Lisa A. Orband-Miller, Shawn P. Williams, et al. "Small Molecule Agonists of the Orphan Nuclear Receptors Steroidogenic Factor-1 (SF-1, NR5A1) and Liver Receptor Homologue-1 (LRH-1, NR5A2)." Journal of Medicinal Chemistry 54, no. 7 (April 14, 2011): 2266–81. http://dx.doi.org/10.1021/jm1014296.
Zhang, Lingling, Lijun Ding, Yifan Li, Fangxi Zhang, Yanhong Xu, Hongjie Pan, Xiaofeng Wan, Guijun Yan, Fei Yu, and Runsheng Li. "EHD3 positively regulated by NR5A1 participates in testosterone synthesis via endocytosis." Life Sciences 278 (August 2021): 119570. http://dx.doi.org/10.1016/j.lfs.2021.119570.
Wang, Chiung-Min, Runhua Liu, Lizhong Wang, and Wei-Hsiung Yang. "Acidic Residue Glu199 Increases SUMOylation Level of Nuclear Hormone Receptor NR5A1." International Journal of Molecular Sciences 14, no. 11 (November 13, 2013): 22331–45. http://dx.doi.org/10.3390/ijms141122331.