Article
Medical Laboratory Technology
Dan Zhou, Hua Xu, Xiaorong Shen, Ruihuan Gu, Ying Chen, Guowu Chen, Pan Li, Huijuan Shi, Xiaoxi Sun, Aijie Xin
Summary: This study reported a novel mutation in the AR gene causing androgen insensitivity syndrome, which resulted in decreased mRNA and protein expression as well as reduced protein stability. In addition, the mutant AR failed to bind to ligand and translocate from cytoplasm to nucleus.
CLINICA CHIMICA ACTA
(2022)
Article
Neurosciences
Fengqin He, Bingjie Yan, Zhen Tian, Bo Wang, Xiaoxia Cheng, Zijian Wang, Bing Yu
Summary: This study reveals the significant role of hormone signalling in the development of male mate preference in the mandarin vole, providing important insights into the mechanisms of animal behavioral development.
EUROPEAN JOURNAL OF NEUROSCIENCE
(2022)
Article
Endocrinology & Metabolism
Maria Santa Rocca, Giovanni Minervini, Cinzia Vinanzi, Alberto Bottacin, Federica Lia, Carlo Foresta, Maria Pennuto, Alberto Ferlin
Summary: This study evaluated the frequency and type of androgen receptor (AR) gene variants in a large cohort of infertile males. The study found that patients with AR gene variants had lower sperm count, higher testosterone concentration, and higher androgen sensitivity index compared to patients without variants. Two novel potentially pathogenic AR variants were identified. Based on these findings, AR sequencing is suggested as a routine genetic test in cases of idiopathic oligozoospermia with high testosterone levels.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Biochemistry & Molecular Biology
Asma Tajouri, Maher Kharrat, Mediha Trabelsi, Ridha M'rad, Olaf Hiort, Ralf Werner
Summary: Androgens play a crucial role in male sex differentiation through the androgen receptor (AR). Mutations in AR can cause androgen insensitivity syndrome (AIS), with p.R856L and p.R856C mutations confirmed to be pathogenic in complete AIS. On the other hand, the p.R856H mutation showed less severe transcriptional constraints and is associated with a spectrum of AIS phenotypes.
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY
(2021)
Article
Pharmacology & Pharmacy
Francesca Cavaliere, Pietro Cozzini
Summary: This study used molecular dynamic simulations to reveal the structural effects of R-bicalutamide on the stability of AR homodimers. The results showed that the binding of R-bicalutamide increased the instability of the homodimer, preventing AR migration to the nucleus and transcriptional activity. The W741L mutation resulted in behavior similar to an agonistic system, which may explain the effect of this mutation on drug resistance.
TOXICOLOGY AND APPLIED PHARMACOLOGY
(2022)
Article
Genetics & Heredity
Yuan Yuan, Wen-Qing Xu, Ying Chen, Tao Luo, Hou-Yang Chen
Summary: This study reported a rare case of mild Androgen Insensitivity Syndrome (AIS) with normal serum hormones in a Chinese family. Genetic analysis revealed a novel AR gene mutation inherited from the mother. The findings provide new insights into the mechanism of AR gene mutations in MAIS.
FRONTIERS IN GENETICS
(2022)
Article
Obstetrics & Gynecology
Kai Wang, Qi Wang, Jing Chen, Yu Wang, Xue Ma
Summary: Androgen insensitivity syndrome (AIS) is a rare genetic disorder caused by mutations in the androgen receptor (AR) gene. This report presents a case of CAIS in a 10-year-old girl, confirmed through clinical, imaging, and genetic evaluations. Histological examination of the resected gonad showed abnormal testicular tissue.
REPRODUCTIVE SCIENCES
(2022)
Article
Health Care Sciences & Services
Xiu Zhao, Zhe Su, Shaoke Chen, Xiumin Wang, Yu Yang, Linqi Chen, Li Liang, Geli Liu, Yi Wang, Yanning Song, Lijun Fan, Xiaoya Ren, Chunxiu Gong
Summary: The study found that the growth patterns of children with androgen insensitivity syndrome (AIS) varied, while there was little difference in growth between complete AIS and partial AIS patients. Regional factors influenced the weight of AIS patients but had no significant impact on height.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Pediatrics
Aikaterini Kapama, Dimitrios T. T. Papadimitriou, George Mastorakos, Nikolaos F. F. Vlahos, Maria Papagianni
Summary: Complete Androgen Insensitivity Syndrome (CAIS) is a rare genetic condition characterized by mutations in the androgen receptor (AR) gene, resulting in resistance to androgens and a female phenotype in genetically male individuals. This study reports a case of CAIS in a 16-year-old patient, diagnosed through clinical evaluation, hormonal assessment, imaging studies, and genetic testing, highlighting the importance of prompt diagnosis and proper management.
Review
Endocrinology & Metabolism
Jia-Ming Wang, Zhen-Fang Li, Wan-Xi Yang
Summary: The androgen receptor signaling pathway is crucial for spermatogenesis in the testes. Sertoli cells, the only somatic cell type in seminiferous tubules, are regulated by this pathway, which affects both Sertoli and germ cells. The pathway plays roles in Sertoli cell proliferation and maturation, as well as the integrity of the blood-testis barrier. Meiotic and post-meiotic processes are also regulated by this pathway, ensuring the development and release of mature sperm.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Christine Helsen, Maria Santa Rocca, Tien T. Nguyen, Roy Eerlings, Xiao Yin Lee, Sofie De Block, Cinzia Vinanzi, Francesco Di Millo, Vito Giagulli, Arnout Voet, Alberto Ferlin, Frank Claessens
Summary: We discovered the missense mutation V770D in the androgen receptor of two sisters with complete androgen insensitivity. The mutation resulted in transcriptional inactivity and impaired dimerization and ligand binding affinity. We found that the AR LBD dimer structure could be better described by a GR-like LBD dimer model, and the V770 residue played a key role in the stability of this dimer.
Review
Endocrinology & Metabolism
E. Delli Paoli, S. Di Chiano, D. Paoli, A. Lenzi, F. Lombardo, F. Pallotti
Summary: Androgen insensitivity syndrome (AIS) is a disorder characterized by peripheral androgen resistance due to androgen receptor mutations in individuals with a 46 XY karyotype. The severity of hormone resistance determines the wide variety of phenotypes. A multidisciplinary approach involving physicians, surgeons, and psychologists is recommended for the management of AIS, to provide support in gender identity choices and appropriate therapeutic decisions.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Article
Biochemistry & Molecular Biology
Shahrzad Aghaei, Sepideh Parvizpour, Effat Farrokhi, Newsha Molavi, Marziyeh Hoseinzadeh, Mohammad Amin Tabatabaiefar
Summary: This study utilized Whole Exome Sequencing and bioinformatics analysis to identify the underlying cause of DSD in a consanguineous Iranian family. A novel pathogenic variant in the AR gene was identified, leading to the loss of AR function and causing complete androgen insensitivity syndrome.
JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS
(2023)
Article
Andrology
Guangjie Chen, Dongyan Zhao, Linfeng Zhu, Yijun Zhao, Jiahua Zhang, Xiaohao Wang, Hongjuan Tian, Daxing Tang, Qiang Shu, Shenglong Qiao
Summary: A novel mutation in the androgen receptor gene was identified in a patient diagnosed with complete androgen insensitivity syndrome (AIS), expanding the spectrum of AR mutations and highlighting the potential of targeted exome sequencing in diagnosing complex disorders in sexual development. This study presented a case of a patient with a 46, XY karyotype presenting as female and with normal female external genitalia, demonstrating the role of AR gene mutations in AIS.
Article
Genetics & Heredity
Lu Jiang, Peng Jia, Baofeng Duan, Yan Zhang
Summary: In this study, a case of complete androgen insensitivity syndrome (CAIS) was reported in a patient who was diagnosed with seminoma and an extratesticular benign tumor after surgery. This is the first family report of CAIS with germ cell tumors. Whole-exome sequencing (WES) identified an uncommon mutation in the AR gene.
FRONTIERS IN GENETICS
(2023)
Article
Endocrinology & Metabolism
Bryan A. Jones, Lydia S. Wagner, Neil V. Watson
Article
Endocrinology & Metabolism
Davide Ponzi, Samuele Zilioli, Pranjal H. Mehta, Alexander Maslov, Neil V. Watson
PSYCHONEUROENDOCRINOLOGY
(2016)
Article
Behavioral Sciences
Yin Wu, Christoph Eisenegger, Samuele Zilioli, Neil V. Watson, Luke Clark
HORMONES AND BEHAVIOR
(2017)
Article
Behavioral Sciences
Samuele Zilioli, Aaron N. Sell, Michael Stirrat, Justin Jagore, William Vickerman, Neil V. Watson
AGGRESSIVE BEHAVIOR
(2015)
Article
Psychology, Biological
Samuele Zilioli, Pranjal H. Mehta, Neil V. Watson
BIOLOGICAL PSYCHOLOGY
(2014)
Article
Behavioral Sciences
Samuele Zilioli, Evan Caldbick, Neil V. Watson
HORMONES AND BEHAVIOR
(2014)
Article
Neurosciences
Scott A. Yuzwa, Xiaoyang Shan, Bryan A. Jones, Gang Zhao, Melissa L. Woodward, Xiaojing Li, Yanping Zhu, Ernest J. McEachern, Michael A. Silverman, Neil V. Watson, Cheng-Xin Gong, David J. Vocadlo
MOLECULAR NEURODEGENERATION
(2014)
Article
Neurosciences
Brian M. Bird, Shawn N. Geniole, Tanya L. Procyshyn, Triana L. Ortiz, Justin M. Carre, Neil V. Watson
NEUROPSYCHOPHARMACOLOGY
(2019)
Article
Biology
Sham N. Geniole, Valentina Proietti, Brian M. Bird, Triana L. Ortiz, Pierre L. Bonin, Bernard Goldfarb, Neil Watson, Justin M. Carre
PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
(2019)
Article
Biology
Amos Nadler, Colin F. Camerer, David T. Zava, Triana L. Ortiz, Neil Watson, Justin M. Carre, Gideon Nave
PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
(2019)
Article
Endocrinology & Metabolism
Paula Duarte-Guterman, Stephanie E. Lieblich, Steven R. Wainwright, Carmen Chow, Jessica A. Chaiton, Neil V. Watson, Liisa A. M. Galea
Article
Psychology, Multidisciplinary
Shawn N. Geniole, Tanya L. Procyshyn, Nicole Marley, Triana L. Ortiz, Brian M. Bird, Ashley L. Marcellus, Keith M. Welker, Pierre L. Bonin, Bernard Goldfarb, Neil V. Watson, Justin M. Carre
PSYCHOLOGICAL SCIENCE
(2019)
Article
Behavioral Sciences
Giuseppe Danese, Eugenia Fernandes, Neil V. Watson, Samuele Zilioli
FRONTIERS IN BEHAVIORAL NEUROSCIENCE
(2017)
Article
Biology
Tanya L. Procyshyn, Jason Spence, Silven Read, Neil V. Watson, Bernard J. Crespi
Article
Psychology, Biological
Jaime L. Palmer-Hague, Neil V. Watson
ADAPTIVE HUMAN BEHAVIOR AND PHYSIOLOGY
(2016)
Article
Psychology, Biological
Umit Yilmaz, Kevser Tanbek
Summary: This study investigated the effects of intracerebroventricular administration of Spexin on the hypothalamus-pituitary-thyroid axis and energy expenditure in rats. The results showed that Spexin reduced food consumption and body weight, increased thyroid hormones, and enhanced energy metabolism.
PHYSIOLOGY & BEHAVIOR
(2024)
Article
Psychology, Biological
Kuei-Yu Chien, Yun-Ju Chen, Kuo-Jen Hsu, Chiao-Nan Chen
Summary: This study investigated the effects of a high-protein diet and high-intensity interval training on appetite and weight loss in obese middle-aged individuals. The results showed that consuming a high-protein drink and following a high-protein diet after exercise can reduce post-exercise appetite and the frequency of late-night snacking.
PHYSIOLOGY & BEHAVIOR
(2024)
Review
Psychology, Biological
Melissa Alves Braga Oliveira, Ana Carolina Odebrecht Vergne de Abreu, Debora Barroggi Constantino, Andre C. Tonon, Antoni Diez-Noguera, Fernanda Gaspar Amaral, Maria Paz Hidalgo
Summary: Biological processes in living organisms exhibit strong rhythmicity and are regulated by internal timing systems. Understanding the influence of biological rhythms is crucial for experimental design and reporting.
PHYSIOLOGY & BEHAVIOR
(2024)
Article
Psychology, Biological
Yanqun Cao, Hao Chen, Yinna Tan, Xu-Dong Yu, Chuli Xiao, Yin Li, James Reilly, Zhiming He, Xinhua Shu
Summary: There is evidence to suggest that chronic stress impacts neurochemical homeostasis and contributes to mental disorders. This study investigates the therapeutic potential of p-coumaric acid (p-CA), a natural compound found in vegetables and fruits, against stress-associated mental disorders. The findings suggest that p-CA could alleviate cognitive deficits and depression-like behavior in mice exposed to chronic restraint stress (CRS) by regulating the PKA-CREB-BDNF signaling pathway.
PHYSIOLOGY & BEHAVIOR
(2024)
Article
Psychology, Biological
Mai O. Spaulding, Jessica R. Hoffman, Grace C. Madu, Magen N. Lord, Caroline Soares Iizuka, Kevin P. Myers, Emily E. Noble
Summary: Food insecurity is associated with obesity and disordered eating behaviors. Studying a rodent model, researchers found that adolescent food insecurity may increase susceptibility to obesity and altered eating behaviors during adulthood.
PHYSIOLOGY & BEHAVIOR
(2024)
Article
Psychology, Biological
K. Oberman, B. L. van Leeuwen, M. Nabben, J. E. Villafranca, R. G. Schoemaker
Summary: The present study investigated the post-operative complications and therapeutic potential of J147 in male Zucker rats, and found that J147 treatment had positive effects on behavioral and metabolic parameters, but did not affect neuroinflammation. The results suggest that a combination of acute and chronic J147 treatment may be optimal for treatment.
PHYSIOLOGY & BEHAVIOR
(2024)
Review
Psychology, Biological
Mathieu Cournoyer, Alice Maldera, Alexandre-Charles Gauthier, Fabien Dal Maso, Marie-Eve Mathieu
Summary: This article provides a comprehensive view of the literature on the effect of different odors on physical activity through a systematic review. It was found that pleasant odors have a positive impact on participants' physical activity. However, better methodological consistency is needed in studies to produce more meaningful results.
PHYSIOLOGY & BEHAVIOR
(2024)
Article
Psychology, Biological
Gabriel R. Gilmore, Jeff Dyche
Summary: This study examined sleep, sleep/wake regularity, and cognition in college students diagnosed with depression and using serotonergic antidepressants, comparing them to those without a depression diagnosis. The results showed that students using antidepressants had slightly longer wake after sleep onset and lower sleep efficiency, but these differences were likely not noticed by the participants. There were no differences in sleep regularity or cognition between the two groups.
PHYSIOLOGY & BEHAVIOR
(2024)
Article
Psychology, Biological
Erica A. Cross, Kim L. Huhman, H. Elliott Albers
Summary: Social stress plays a significant role in the development of neuropsychiatric disorders and can lead to behavioral deficits such as social withdrawal. This study investigates the impact of social stress on social reward in Syrian hamsters. The results show that subordinate and socially defeated males have reduced motivation for social interactions compared to dominant males. Additionally, winning males exhibit greater activation in the mesolimbic dopamine system compared to losers. In females, there were no differences in social entries between winners and losers, but winning females display more activation in the NAc shell.
PHYSIOLOGY & BEHAVIOR
(2024)
Article
Psychology, Biological
Daniel A. R. Cabral, Maria L. M. Rego, Eduardo B. Fontes, Vagner D. O. Tavares
Summary: This study examined the association between body mass index (BMI) and negative emotional states (NES) in men with substance use disorders (SUD) undergoing treatment. The findings showed a positive correlation between BMI and stress, anxiety, and depression. These results suggest that reducing body fat accumulation may contribute to improving mental health in individuals with SUD during recovery.
PHYSIOLOGY & BEHAVIOR
(2024)
Review
Psychology, Biological
Elizabeth Agbor Epse Muluh, Jessica C. McCormack, Yunfan Mo, Michael Garratt, Mei Peng
Summary: This PROSPERO pre-registered systematic review and meta-analysis evaluated the olfactory and gustatory changes in pregnant individuals. The meta-analysis revealed that pregnant individuals performed poorer in odour identification, rated olfactory stimuli to be more intense during the second and third trimester, and had increased pleasantness for sweet taste in the first trimester. No major difference was observed in terms of gustatory functions between pregnant and non-pregnant subjects.
PHYSIOLOGY & BEHAVIOR
(2024)
Article
Psychology, Biological
Renee Spiteri Douglas, Mackenzie R. Hartley, J. Renee Yang, Tamara B. Franklin
Summary: The expression of Hdac2 in the hippocampus is associated with social status, while the expression of closely related genes Hdac1 and HDAC2 protein is not associated with social rank in the hippocampus.
PHYSIOLOGY & BEHAVIOR
(2024)