E4F1 coordinates pyruvate metabolism and the activity of the elongator complex to ensure translation fidelity during brain development by Michela Di Michele, Aurore Attina, Pierre-François Roux, Imène Tabet, Sophie Laguesse, Javier Florido, Morane Houdeville, Armelle Choquet, Betty Encislai, Giuseppe Arena, Carlo De Blasio, Olivia Wendling, François-Xavier Frenois, Laura Papon, Lucille Stuani, Maryse Fuentes, Céline Jahannault Talignani, Mélanie Rousseau, Justine Guégan, Yoan Buscail, Pierrick Dupré, Henri-Alexandre Michaud, Geneviève Rodier, Floriant Bellvert, Hanna Kulyk, Carole Ferraro Peyret, Hugo Mathieu, Pierre Close, Francesca Rapino, Cédric Chaveroux, Nelly Pirot, Lucie Rubio, Adeline Torro, Tania Sorg, Fabrice Ango, Christophe Hirtz, Vincent Compan, Elise Lebigot, Andrea Legati, Daniele Ghezzi, Laurent Nguyen, Alexandre David, Claude Sardet, Matthieu Lacroix, Laurent Le Cam

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MO-GCN: A multi-omics graph convolutional network for discriminative analysis of schizophrenia by Haiyuan Wang, Runlin Peng, Yuanyuan Huang, Liqin Liang, Wei Wang, Baoyuan Zhu, Chenyang Gao, Minxin Guo, Jing Zhou, Hehua Li, Xiaobo Li, Yuping Ning, Fengchun Wu, Kai Wu

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Endothelial-secreted Endocan activates PDGFRA and regulates vascularity and spatial phenotype in glioblastoma by Soniya Bastola, Marat S. Pavlyukov, Neel Sharma, Yasmin Ghochani, Mayu A. Nakano, Sree Deepthi Muthukrishnan, Sang Yul Yu, Min Soo Kim, Alireza Sohrabi, Natalia P. Biscola, Daisuke Yamashita, Ksenia S. Anufrieva, Tatyana F. Kovalenko, Grace Jung, Tomas Ganz, Beatrice O’Brien, Riki Kawaguchi, Yue Qin, Stephanie K. Seidlits, Alma L. Burlingame, Juan A. Oses-Prieto, Leif A. Havton, Steven A. Goldman, Anita B. Hjelmeland, Ichiro Nakano, Harley I. Kornblum

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Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive att... by José Hernández-Rodríguez, Fernando Martínez-Valle, Xènia Acebes, Carmen Alerany, Jordi Antón, Gonzalo Calvo, Marian Corral, Jordi Cruz, M. Antònia Mangues-Bafalluy, José Mateo, Josefa Rivera, Albert Salazar, Roser Francisco, Cristina Mallol, Rita Reig-Viader, Ariadna Tigri-Santiña, Assumpta Ricart, Francesc Palau

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Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America by Joel Oger, Joshua D Green, Bryan J Traynor, Richard J Barohn, Michael Benatar, Emanuela Bartoccion, Derrick Blackmore, Vinay Chaudhry, Manisha Chopra, Andrea Corse, Mazen M Dimachkie, Amelia Evoli, Julaine Florence, Miriam Freimer, James F Howard, Theresa Jiwa, Henry J Kaminski, John T Kissel, Wilma J Koopman, Bernadette Lipscomb, Michelanglo Maestri, Mariapaola Marino, Janice M Massey, April McVey, Michelle M Mezei, Srikanth Muppidi, Michael W Nicolle, Robert M Pascuzzi, Mamatha Pasnoor, Alan Pestronk, Carlo Provenzano, Roberta Ricciardi, David P Richman, Julie Rowin, Donald B Sanders, Zaeem Siddiqi, Aimee Soloway, Gil I Wolfe, Charlie Wulf, Daniel B Drachman

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Pleiotropic effects of mutant huntingtin on retinopathy in two mouse models of Huntington's disease by Hui Xu, Anakha Ajayan, Ralf Langen, Jeannie Chen

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Edge-centric connectome-genetic markers of bridging factor to comorbidity between depression and anxiety by Zhiyi Chen, Yancheng Tang, Xuerong Liu, Wei Li, Yuanyuan Hu, Bowen Hu, Ting Xu, Rong Zhang, Lei Xia, Jing-Xuan Zhang, Zhibing Xiao, Ji Chen, Zhengzhi Feng, Yuan Zhou, Qinghua He, Jiang Qiu, Xu Lei, Hong Chen, Shaozheng Qin, Tingyong Feng

“…Our findings revealed a general factor of bridging symptoms and its neurobiological architectures, which enriched neurogenetic understanding of depression-anxiety comorbidity.…”
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Reliability of high-quantity human brain organoids for modeling microcephaly, glioma invasion and drug screening by Anand Ramani, Giovanni Pasquini, Niklas J. Gerkau, Vaibhav Jadhav, Omkar Suhas Vinchure, Nazlican Altinisik, Hannes Windoffer, Sarah Muller, Ina Rothenaigner, Sean Lin, Aruljothi Mariappan, Dhanasekaran Rathinam, Ali Mirsaidi, Olivier Goureau, Lucia Ricci-Vitiani, Quintino Giorgio D’Alessandris, Bernd Wollnik, Alysson Muotri, Limor Freifeld, Nathalie Jurisch-Yaksi, Roberto Pallini, Christine R. Rose, Volker Busskamp, Elke Gabriel, Kamyar Hadian, Jay Gopalakrishnan

“…Thus, the Hi-Q approach can easily be adapted to reliably harness brain organoids’ application for personalized neurogenetic disease modeling and drug discovery.…”
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Disproportionate adverse event signals of selumetinib in neurofibromatosis type I: insights from FAERS by Lin Li

“…BackgroundNeurofibromatosis type 1 (NF1) is a rare neurogenetic disorder with limited treatment options. …”
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Patient-Specific Pluripotent Stem Cells in Neurological Diseases by Serpen Durnaoglu, Sermin Genc, Kursad Genc

“…Patient-specific iPSC-based modeling of neurogenetic and neurodegenerative diseases is an emerging efficient tool for in vitro modeling to understand disease and to screen for genes and drugs that modify the disease process. …”
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Dias-Logan syndrome with a p.Leu360Profs*212 heterozygous pathogenic variant of in a Chinese patient: A case report by Yizhuo Shu, Xiaoling Chen, Zhuoqun Wei, Chunyue Chen

“…Dias-Logan syndrome, also known as intellectual developmental disorder with persistence of fetal hemoglobin (HbF), or BCL11A -related intellectual developmental disorder, is an extremely rare neurogenetic disorder characterized by intellectual disability (ID), delayed psychomotor development, variable dysmorphic features, and asymptomatic persistence of fetal hemoglobin. …”
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Identifying unstable CNG repeat loci in the human genome: a heuristic approach and implications for neurological disorders by Varun Suroliya, Bharathram Uppili, Manish Kumar, Vineet Jha, Achal K. Srivastava, Mohammed Faruq

“…In this study, we aimed to identify novel unstable CNG repeat loci associated with the neurogenetic disorder spinocerebellar ataxia (SCA). Using a computational approach, 15,069 CNG repeat loci in the coding and noncoding regions of the human genome were identified. …”
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Instationary metabolic flux analysis reveals that NPC1 inhibition increases glycolysis and decreases mitochondrial metabolism in brain microvascular endothelial cells by Bilal Moiz, Matthew Walls, Viviana Alpizar Vargas, Anirudh Addepalli, Callie Weber, Andrew Li, Ganesh Sriram, Alisa Morss Clyne

“…Niemann Pick Disease Type C (NP-C), a rare neurogenetic disease with no known cure, is caused by mutations in the cholesterol trafficking protein NPC1. …”
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Microbial Changes in Subgingival Plaque and Polymicrobial Intracellular Flora in Buccal Cells after Fixed Orthodontic Appliance Therapy: A Preliminary Study by Caterina Montaldo, Matteo Erriu, Francesca Maria Giovanna Pili, Carla Peluffo, Annalisa Nucaro, Germano Orrù, Gloria Denotti

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DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders by Dandan Wu, Ran Chen, Jerry Zhang, Wu Yan, Mengyin Chen, Dongqing Xia, Xiaonan Li, Yanyan Dai, Yinhua Chen, Rong Li

“…Thus, whole-exome sequencing may be recommended for precise diagnosis of neurogenetic diseases in such cases.…”
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Long-Lasting Anti-Inflammatory Activity of Human Microfragmented Adipose Tissue by Sara Nava, Valeria Sordi, Luisa Pascucci, Carlo Tremolada, Emilio Ciusani, Offer Zeira, Moris Cadei, Gianni Soldati, Augusto Pessina, Eugenio Parati, Mark Slevin, Giulio Alessandri

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