Article
Medicine, Research & Experimental
Phoebe Carter, Ulrike Schnell, Christopher Chaney, Betty Tong, Xinchao Pan, Jianhua Ye, Glenda Mernaugh, Jennifer L. Cotton, Vitaly Margulis, Junhao Mao, Roy Zent, Bret M. Evers, Payal Kapur, Thomas J. Carroll
Summary: Misregulation of the Warts pathway can drive renal tumor formation in mice, and human tumors with active YAP may represent a unique subset of RCCs that can be therapeutically targeted.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Genetics & Heredity
Lixue Liu, Lihong Yao, Zeyu Lu, Lili Jiang, Xiaohan Zhang, Xinpeng Liu, Wenxuan Zhang, Xinrui Luan, Shujian Zhang, Wenxia Xu, Tuo Wang, Fangping Zhang, Xuancheng Wei, Junlong Da, Jianqun Wang, Jiahui Zhang, Ying Li, Han Jin, Bin Zhang
Summary: This study identifies the important role of Fam20a in tooth root development and eruption, regulating cell polarity and the WNT/β-catenin/Cdc42 pathway. Knockout of Fam20a leads to shortened roots, incomplete epithelial root sheath development, and delayed tooth eruption.
Review
Biology
Zachary A. Grieb, Joseph S. Lonstein
Summary: The interaction between oxytocin and central dopamine and serotonin systems is crucial for behavioral adaptations during the postpartum period. Oxytocin-dopamine interaction regulates maternal motivation and active caregiving behaviors, while oxytocin-serotonin interaction influences other aspects such as nursing, aggression, anxiety-like behavior, and stress coping strategy.
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
(2022)
Article
Gastroenterology & Hepatology
Yeeun Choi, Min-Ji Song, Woong-Jae Jung, Haengdueng Jeong, Seokjae Park, Bobae Yang, Eun-Chong Lee, Jung-Sik Joo, Dahee Choi, Seung-Hoi Koo, Eun-Kyoung Kim, Ki Taek Nam, Hyoung-Pyo Kim
Summary: This study demonstrated that liver-specific deletion of CTCF leads to hepatic steatosis and inflammation in mice, which is associated with increased nuclear accumulation of PPAR gamma and upregulation of downstream target genes such as CD36. Repression of PPAR gamma through pharmacologic blockade or adenovirus-mediated knockdown could ameliorate hepatic steatosis in CTCF-deficient mice.
CELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY
(2021)
Article
Genetics & Heredity
Jerome Ezan, Maite M. Moreau, Tamrat M. Mamo, Miki Shimbo, Maureen Decroo, Nathalie Sans, Mireille Montcouquiol
Summary: This study investigates the function of Scrib specifically in excitatory neurons and finds that Scrib plays an essential role in forebrain development and locomotor behavior.
FRONTIERS IN GENETICS
(2022)
Article
Cell Biology
Xiao-Wei Song, Feng Zhao, Jing Yang, Qing-Ning Yuan, Zhen-Yu Zeng, Ming Shen, Ying Tang, Mi Cao, Ya-Feng Shen, Song-Hua Li, Yong-Ji Yang, Hong Wu, Xian-Xian Zhao, Shu-Ting Hu
Summary: The downregulation of PSEN1 in cardiomyocytes may lead to heart failure and cardiomyopathy, with abnormalities in calcium ion regulation being implicated. This has important implications for the treatment of aging-related heart diseases.
CELL BIOLOGY INTERNATIONAL
(2022)
Article
Cell Biology
Wen-Long Lei, Yuan-Yuan Li, Tie-Gang Meng, Yan Ning, Si-Min Sun, Chun-Hui Zhang, Yaoting Gui, Zhen-Bo Wang, Wei-Ping Qian, Qing-Yuan Sun
Summary: The study revealed a novel function of PPP6C in male germ cell survival and differentiation by regulating cell-cell communication through dephosphorylation of beta-catenin at S552.
CELL DEATH & DISEASE
(2021)
Article
Multidisciplinary Sciences
Thirupura S. Shankar, Dinesh K. A. Ramadurai, Kira Steinhorst, Salah Sommakia, Rachit Badolia, Aspasia Thodou Krokidi, Dallen Calder, Sutip Navankasattusas, Paulina Sander, Oh Sung Kwon, Aishwarya Aravamudhan, Jing Ling, Andreas Dendorfer, Changmin Xie, Ohyun Kwon, Emily H. Y. Cheng, Kevin J. Whitehead, Thomas Gudermann, Russel S. Richardson, Frank B. Sachse, Johann Schredelseker, Kenneth W. Spitzer, Dipayan Chaudhuri, Stavros G. Drakos
Summary: The study found that VDAC2 plays a crucial role in influencing mitochondrial calcium dynamics and cellular calcium signaling. A VDAC2 agonist, efsevin, rescued the heart failure phenotype, identifying a new potential therapeutic target for heart failure.
NATURE COMMUNICATIONS
(2021)
Article
Biochemistry & Molecular Biology
Tifenn Desroziers, Gregoire Prevot, Aurore Coulomb, Valerie Nau, Florence Dastot-Le Moal, Philippe Duquesnoy, Melanie Hery, Aurelie Le Borgne, Serge Amselem, Marie Legendre, Nadia Nathan
Summary: This paper reports two related adults with pulmonary fibrosis due to a new homozygous SFTPB pathogenic variant. The variant induces aberrant splicing and almost complete loss of SP-B expression, leading to epithelial cell dysfunction and ILD. This finding highlights the importance of considering SFTPB pathogenic variants in atypical and/or early-onset forms of ILD, especially when a family history is present.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Jung-Hoon Pyun, Byeong-Yun Ahn, Tuan Anh Vuong, Su Woo Kim, Yunju Jo, Jaehyung Jeon, Seung Ho Baek, Jaewon Kim, Sungsu Park, Gyu-Un Bae, Jun-Hyuk Choi, Jae-Ryong Kim, Dongryeol Ryu, Sang-Jin Lee, Jong-Sun Kang
Summary: Prmt1 plays a crucial role in maintaining vascular smooth muscle cell function, and its ablation may lead to aortic diseases. Ablation of Prmt1 affects the expression of contractile genes, causing VSMCs to switch phenotypes and resulting in aortic dilation and dissection.
EXPERIMENTAL AND MOLECULAR MEDICINE
(2021)
Article
Neurosciences
Mauricio Sepulveda, Elizabeth E. Manning, Andrea Gogos, Matthew Hale, Maarten van den Buuse
Summary: This study evaluated the long-term effects of chronic METH treatment on the serotonin system in the brain using various techniques. The results indicated that METH treatment can lead to long-term or selective effects on brain serotonin systems. METH pretreatment may affect 5-HT1A receptor binding and reduce DRN cell counts selectively in BDNF HET mice.
Article
Cell Biology
Yu Zhou, Wanli Tian, Xiaoyan Jiang, Huining Yang, Zhilin Jiang, Xiao Li, Dan Jiang, Kuanxiang Sun, Yeming Yang, Wenjing Liu, Xianjun Zhu
Summary: By generating an Asrgl1 knockout mouse model using CRISPR/Cas9, the study found that Asrgl1 KO mice exhibited weakened ERG response at 8 months, decreased ONL thickness starting from 9 months, and progressive degeneration of rod and cone cells. RNA-seq identified 149 DEGs in Asrgl1 KO retina, associated with biological processes such as gastrointestinal disease and organismal injury. Glucocorticoid receptor signaling was highlighted as a significantly altered canonical pathway in Asrgl1 KO retina, with key molecules like NFE2L2, IL-4, Foxp3, and Fos in the central nodes of the interaction network.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Fen Ji, Wenwen Wang, Chao Feng, Fei Gao, Jianwei Jiao
Summary: This study demonstrates the critical role of Wilms' tumor 1 (Wt1) in embryonic neurogenesis and behavioral modulation, showing its influence on neural progenitor cell proliferation, neuronal differentiation, and the development of depressive-like behaviors. Wt1 recruits Tet2 to regulate erythropoietin (Epo) expression via 5-hydroxymethylcytosine (5hmC) levels, and administration of Epo can partially restore the deficiency caused by Wt1 deletion in mice. Moreover, Wt1 plays a similar role in human neural progenitor cells proliferation and differentiation, providing insights into the etiology and therapy of major depressive disorder.
MOLECULAR PSYCHIATRY
(2021)
Article
Cell Biology
Karla C. Fischer, Carmel P. Daunt, Cedric S. Tremblay, Sheila Dias, James E. Vince, Anissa M. Jabbour
Summary: The I kappa B kinase complex is crucial for haematopoietic cell development and function, particularly with the deletion of IKK2 leading to various abnormalities such as neutrophilia, severe anaemia, thrombocytosis, and immune inflammation.
CELL DEATH & DISEASE
(2021)
Article
Cardiac & Cardiovascular Systems
Jesse Gammons, Mohamed Trebak, Salvatore Mancarella
Summary: Orai3 plays a critical role in the heart, mediating Ca2+ signaling essential for maintaining sarcomere integrity and proper mitochondrial function in adult mammalian cardiomyocytes. Loss of Orai3 in mice results in ventricular dysfunction progressing to dilated cardiomyopathy and heart failure, with significant changes in myocardial Ca2+ cycling and expression of critical proteins involved in Ca2+ clearance mechanisms.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2021)
Article
Biochemistry & Molecular Biology
Britt Mossink, Jon-Ruben Van Rhijn, Shan Wang, Katrin Linda, Maria R. Vitale, Johanna E. M. Zoller, Eline J. H. van Hugte, Jitske Bak, Anouk H. A. Verboven, Martijn Selten, Moritz Negwer, Brooke L. Latour, Ilse van der Werf, Jason M. Keller, Teun M. Klein Gunnewiek, Chantal Schoenmaker, Astrid Oudakker, Alessia Anania, Sophie Jansen, Klaus-Peter Lesch, Monica Frega, Hans van Bokhoven, Dirk Schubert, Nael Nadif Kasri
Summary: This study revealed the regulatory role of CDH13 in inhibitory synapse function by establishing a human neuronal model. By culturing iGABAs in vitro, we found that CDH13 deficiency increases inhibition, thereby reducing the excitatory/inhibitory balance. Through these findings, we identified a potential mechanism by which CDH13 may contribute to the pathophysiology of brain disorders.
MOLECULAR PSYCHIATRY
(2022)
Article
Neurosciences
Chun-Hui He, Lei Zhang, Ning-Ning Song, Wan-Ying Mei, Jia-Yin Chen, Ling Hu, Qiong Zhang, Yu-Bing Wang, Yu-Qiang Ding
Summary: Soma spacing and dendritic arborization are crucial for the establishment of proper neural circuitry and function during brain development. This study reveals the involvement of transcription factor Satb2 in regulating these processes. Satb2 is shown to be necessary for the regionalization of retrosplenial cortex, the determination of callosal neuron fate, and the regulation of soma spacing and dendritic self-avoidance of cortical pyramidal neurons. The study also identifies EphA7 as a downstream effector of Satb2, with Satb2 directly suppressing the expression of EphA7. These findings provide new insights into the transcriptional regulation of cerebral cortex morphogenesis.
Article
Biochemistry & Molecular Biology
Tatyana Strekalova, Dmitrii Pavlov, Alexander Trofimov, Daniel C. Anthony, Andrei Svistunov, Andrey Proshin, Aleksei Umriukhin, Alexei Lyundup, Klaus-Peter Lesch, Raymond Cespuglio
Summary: The role of hippocampal cyclooxygenase-2 (COX-2) in stress-induced anhedonia has been investigated. Inhibition of COX-2 in the hippocampus has antidepressant effects.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Neurosciences
Tatyana Strekalova, Yanzhi Liu, Daniel Kiselev, Sharafuddin Khairuddin, Jennifer Lok Yu Chiu, Justin Lam, Ying-Shing Chan, Dmitrii Pavlov, Andrey Proshin, Klaus-Peter Lesch, Daniel C. Anthony, Lee Wei Lim
Summary: The Chronic Mild Stress (CMS) paradigm is a widely used model for finding antidepressant drugs for Major Depressive Disorder (MDD). While literature analysis supports the validity of this model, further improvements could be achieved by stratifying animals, using refined experimental protocols, and systematically evaluating non-specific effects.
PSYCHOPHARMACOLOGY
(2022)
Article
Genetics & Heredity
Noelia Fernandez-Castillo, Judit Cabana-Dominguez, Djenifer B. Kappel, Barbara Torrico, Heike Weber, Klaus-Peter Lesch, Oscar Lao, Andreas Reif, Bru Cormand
Summary: By studying genes related to Mendelian disorders presenting with ADHD symptoms, we identified new candidate risk genes for ADHD that are mainly associated with neurodevelopment and brain function. We also found rare variants associated with the severity of inattention symptoms and identified common variants associated with ADHD and its comorbidities.
Article
Environmental Sciences
Yun-Qing Hu, Ting-Ting Niu, Jian-Ming Xu, Li Peng, Qing-Hua Sun, Ying Huang, Ji Zhou, Yu-Qiang Ding
Summary: The exposure to negative air ions (NAI) has been found to alleviate depressive-like behaviors induced by chronic mild stress (CMS) in mice, possibly by modulating corticosterone levels and rebalancing the function of Th1 and Th2 cells.
ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH
(2022)
Article
Genetics & Heredity
Andrew D. Grotzinger, Travis T. Mallard, Wonuola A. Akingbuwa, Hill F. Ip, Mark J. Adams, Cathryn M. Lewis, Andrew M. McIntosh, Jakob Grove, Soren Dalsgaard, Klaus-Peter Lesch, Nora Strom, Sandra M. Meier, Manuel Mattheisen, Anders D. Borglum, Ole Mors, Gerome Breen, Phil H. Lee, Kenneth S. Kendler, Jordan W. Smoller, Elliot M. Tucker-Drob, Michel G. Nivard
Summary: A joint analysis of 11 major psychiatric disorders identified four broad factors underlying the genetic correlations among the disorders, along with multiple loci acting on these factors. These findings suggest the presence of genetic overlap among different psychiatric disorders, but also highlight the heterogeneity within each factor. However, a single dimension of genetic risk does not appear to be useful in explaining the biobehavioral correlates or individual variants of psychiatric disorders.
Article
Psychiatry
Ling Hu, Bing-Yao Zhou, Cui-Ping Yang, Da-Yun Lu, Yun-Chao Tao, Lin Chen, Lei Zhang, Jun-Hui Su, Ying Huang, Ning-Ning Song, Jia-Yin Chen, Li Zhao, Yi Chen, Chun-Hui He, Yu-Bing Wang, Bing Lang, Yu-Qiang Ding
Summary: This study identifies a potential association between Ulk4 deficiency and schizophrenia, and demonstrates this association through experiments on mice. The study also finds that Ulk4 may regulate downstream signaling pathways through modulating GSK-3 signaling.
SCHIZOPHRENIA BULLETIN
(2022)
Article
Cell Biology
Ling Hu, Guan-Yu Jiang, Ying-Ping Wang, Zhi-Bin Hu, Bing-Yao Zhou, Lei Zhang, Ning-Ning Song, Ying Huang, Guo-Dong Chai, Jia-Yin Chen, Bing Lang, Lin Xu, Jun-Ling Liu, Yong Li, Qing-Xiu Wang, Yu-Qiang Ding
Summary: PTEN is a tumor suppressor gene that plays a crucial role in brain development. This study reveals that PTEN is also involved in processing itch and thermal information in adult mice. PTEN deletion leads to pathological itch and enhanced itch responses, as well as enhanced thermal stimulation.
Article
Cell Biology
Evgeniy Svirin, Ekaterina Veniaminova, Joao Pedro Costa-Nunes, Anna Gorlova, Aleksei Umriukhin, Allan Kalueff, Andrey Proshin, Daniel C. Anthony, Andrey Nedorubov, Anna Chung Kwan Tse, Susanne Walitza, Lee Wei Lim, Klaus-Peter Lesch, Tatyana Strekalova
Summary: The interaction between brain serotonin deficiency and environmental adversity leads to excessive aggression in females. Complete inactivation of the gene encoding tryptophan hydroxylase-2 results in the absence of neuronal serotonin synthesis and aggression in male and female mice. Moderate reduction in brain serotonin levels and exposure to stress also lead to increased aggression in male mice. Furthermore, changes in gene expression and myelination-related processes may underlie the molecular mechanisms of aggressive behavior.
Review
Cell & Tissue Engineering
Ling Hu, Lei Zhang
Summary: Schizophrenia is a devastating and complex mental disorder, and understanding the role of adult neural stem cells in its pathogenesis and treatment is crucial for uncovering the etiology and developing therapeutic approaches.
WORLD JOURNAL OF STEM CELLS
(2022)
Article
Biochemistry & Molecular Biology
Shangyao Qin, Yimin Yuan, Xiao Huang, Zijian Tan, Xin Hu, Hong Liu, Yingyan Pu, Yu-qiang Ding, Zhida Su, Cheng He
Summary: This study reveals the preferential expression of TOP2a in neurogenic niches and its crucial role in the self-renewal and proliferation of adult neural stem cells. The researchers identified Usp37 as a direct target gene of TOP2a through RNA sequencing and chromatin immunoprecipitation sequencing, and found that overexpression of Usp37 can rescue the impaired self-renewal ability of adult neural stem cells caused by Top2a knockout.
NUCLEIC ACIDS RESEARCH
(2022)
Article
Multidisciplinary Sciences
Pengcheng Ma, Li Pear Wan, Yuwei Li, Chun-Hui He, Ning-Ning Song, Shiping Zhao, Huishan Wang, Yu-Qiang Ding, Bingyu Mao, Nengyin Sheng
Summary: RNF220 acts as an E3 ubiquitin ligase for AMPARs, playing a significant role in excitatory synaptic transmission and brain function. Lack of RNF220 increases AMPAR protein levels, enhancing basal synaptic activity and impairing synaptic plasticity.
Article
Cell Biology
Chun-Hui He, Ning-Ning Song, Pin-Xi Xie, Yu-Bing Wang, Jia-Yin Chen, Ying Huang, Ling Hu, Zhao Li, Jun-Hui Su, Xiao-Qing Zhang, Lei Zhang, Yu-Qiang Ding
Summary: Overexpression of EphB6 or EphrinB2 leads to clustering of cortical neurons, but co-overexpression of both proteins prevents this phenomenon, indicating a synergistic role of EphrinB2/EphB6 in controlling soma spacing in cortical development.
CELL DEATH & DISEASE
(2023)