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JOURNAL ARTICLE
Caroline M Nievergelt, Adam X Maihofer, Elizabeth G Atkinson, Chia-Yen Chen, Karmel W Choi, Jonathan R I Coleman, Nikolaos P Daskalakis, Laramie E Duncan, Renato Polimanti, Cindy Aaronson, Ananda B Amstadter, Soren B Andersen, Ole A Andreassen, Paul A Arbisi, Allison E Ashley-Koch, S Bryn Austin, Esmina Avdibegoviç, Dragan Babić, Silviu-Alin Bacanu, Dewleen G Baker, Anthony Batzler, Jean C Beckham, Sintia Belangero, Corina Benjet, Carisa Bergner, Linda M Bierer, Joanna M Biernacka, Laura J Bierut, Jonathan I Bisson, Marco P Boks, Elizabeth A Bolger, Amber Brandolino, Gerome Breen, Rodrigo Affonseca Bressan, Richard A Bryant, Angela C Bustamante, Jonas Bybjerg-Grauholm, Marie Bækvad-Hansen, Anders D Børglum, Sigrid Børte, Leah Cahn, Joseph R Calabrese, Jose Miguel Caldas-de-Almeida, Chris Chatzinakos, Sheraz Cheema, Sean A P Clouston, Lucía Colodro-Conde, Brandon J Coombes, Carlos S Cruz-Fuentes, Anders M Dale, Shareefa Dalvie, Lea K Davis, Jürgen Deckert, Douglas L Delahanty, Michelle F Dennis, Frank Desarnaud, Christopher P DiPietro, Seth G Disner, Anna R Docherty, Katharina Domschke, Grete Dyb, Alma Džubur Kulenović, Howard J Edenberg, Alexandra Evans, Chiara Fabbri, Negar Fani, Lindsay A Farrer, Adriana Feder, Norah C Feeny, Janine D Flory, David Forbes, Carol E Franz, Sandro Galea, Melanie E Garrett, Bizu Gelaye, Joel Gelernter, Elbert Geuze, Charles F Gillespie, Slavina B Goleva, Scott D Gordon, Aferdita Goçi, Lana Ruvolo Grasser, Camila Guindalini, Magali Haas, Saskia Hagenaars, Michael A Hauser, Andrew C Heath, Sian M J Hemmings, Victor Hesselbrock, Ian B Hickie, Kelleigh Hogan, David Michael Hougaard, Hailiang Huang, Laura M Huckins, Kristian Hveem, Miro Jakovljević, Arash Javanbakht, Gregory D Jenkins, Jessica Johnson, Ian Jones, Tanja Jovanovic, Karen-Inge Karstoft, Milissa L Kaufman, James L Kennedy, Ronald C Kessler, Alaptagin Khan, Nathan A Kimbrel, Anthony P King, Nastassja Koen, Roman Kotov, Henry R Kranzler, Kristi Krebs, William S Kremen, Pei-Fen Kuan, Bruce R Lawford, Lauren A M Lebois, Kelli Lehto, Daniel F Levey, Catrin Lewis, Israel Liberzon, Sarah D Linnstaedt, Mark W Logue, Adriana Lori, Yi Lu, Benjamin J Luft, Michelle K Lupton, Jurjen J Luykx, Iouri Makotkine, Jessica L Maples-Keller, Shelby Marchese, Charles Marmar, Nicholas G Martin, Gabriela A Martínez-Levy, Kerrie McAloney, Alexander McFarlane, Katie A McLaughlin, Samuel A McLean, Sarah E Medland, Divya Mehta, Jacquelyn Meyers, Vasiliki Michopoulos, Elizabeth A Mikita, Lili Milani, William Milberg, Mark W Miller, Rajendra A Morey, Charles Phillip Morris, Ole Mors, Preben Bo Mortensen, Mary S Mufford, Elliot C Nelson, Merete Nordentoft, Sonya B Norman, Nicole R Nugent, Meaghan O'Donnell, Holly K Orcutt, Pedro M Pan, Matthew S Panizzon, Gita A Pathak, Edward S Peters, Alan L Peterson, Matthew Peverill, Robert H Pietrzak, Melissa A Polusny, Bernice Porjesz, Abigail Powers, Xue-Jun Qin, Andrew Ratanatharathorn, Victoria B Risbrough, Andrea L Roberts, Alex O Rothbaum, Barbara O Rothbaum, Peter Roy-Byrne, Kenneth J Ruggiero, Ariane Rung, Heiko Runz, Bart P F Rutten, Stacey Saenz de Viteri, Giovanni Abrahão Salum, Laura Sampson, Sixto E Sanchez, Marcos Santoro, Carina Seah, Soraya Seedat, Julia S Seng, Andrey Shabalin, Christina M Sheerin, Derrick Silove, Alicia K Smith, Jordan W Smoller, Scott R Sponheim, Dan J Stein, Synne Stensland, Jennifer S Stevens, Jennifer A Sumner, Martin H Teicher, Wesley K Thompson, Arun K Tiwari, Edward Trapido, Monica Uddin, Robert J Ursano, Unnur Valdimarsdóttir, Miranda Van Hooff, Eric Vermetten, Christiaan H Vinkers, Joanne Voisey, Yunpeng Wang, Zhewu Wang, Monika Waszczuk, Heike Weber, Frank R Wendt, Thomas Werge, Michelle A Williams, Douglas E Williamson, Bendik S Winsvold, Sherry Winternitz, Christiane Wolf, Erika J Wolf, Yan Xia, Ying Xiong, Rachel Yehuda, Keith A Young, Ross McD Young, Clement C Zai, Gwyneth C Zai, Mark Zervas, Hongyu Zhao, Lori A Zoellner, John-Anker Zwart, Terri deRoon-Cassini, Sanne J H van Rooij, Leigh L van den Heuvel, Murray B Stein, Kerry J Ressler, Karestan C Koenen
Post-traumatic stress disorder (PTSD) genetics are characterized by lower discoverability than most other psychiatric disorders. The contribution to biological understanding from previous genetic studies has thus been limited. We performed a multi-ancestry meta-analysis of genome-wide association studies across 1,222,882 individuals of European ancestry (137,136 cases) and 58,051 admixed individuals with African and Native American ancestry (13,624 cases). We identified 95 genome-wide significant loci (80 new)...
April 18, 2024: Nature Genetics
#2
JOURNAL ARTICLE
Aylar Nazari, Tayyebeh Ghasemi, Mohammad Khalaj-Kondori, Ramin Fathi
Aberrant DNA methylation plays essential roles in the colorectal cancer (CRC) carcinogenesis and has been demonstrated as a promising marker for cancer early detection. In this project, methylation status of the MORT promoter was studied in CRC and their marginal tissues using qMSP assay. Furthermore, we investigated the molecular function of MORT in CRC progression using computational analysis. The results showed a high methylation level of MORT promoter in CRC tissues. By in silico analysis, we found that MORT downregulation could promote the proliferation of CRC cells via sponging of has-miR-574-5p and has-miR-31-5p , and alteration of their targets expression pattern such as MYOCD and FOXP2 ...
April 15, 2024: Nucleosides, Nucleotides & Nucleic Acids
#3
JOURNAL ARTICLE
Wenya Su, Song Hu, Lin Zhou, Hui Bi, Zhiying Li
Lung cancer is associated with high morbidity and mortality rates. Forkhead box P2 ( FOXP2 ) functions as an antitumor gene in various cancers. However, its role in lung cancer remains to be elucidated. The present study explored the potential role of FOXP2 in lung cancer. mRNA levels and protein expression were determined using RT-qPCR and western blotting, respectively. Functional analysis was performed using the CCK-8, Transwell and TUNEL assays. FOXP2 expression was downregulated in lung cancer. Notably, FOXP2 suppressed the proliferative, migratory and invasive abilities of lung cancer cells and promoted tumor cell apoptosis...
May 2024: Oncology Letters
#4
JOURNAL ARTICLE
Katherine E Pendleton, Andres Hernandez-Garcia, Jennifer M Lyu, Ian M Campbell, Chad A Shaw, Julie Vogt, Frances A High, Patricia K Donahoe, Wendy K Chung, Daryl A Scott
FOXP1 encodes a transcription factor involved in tissue regulation and cell-type-specific functions. Haploinsufficiency of FOXP1 is associated with a neurodevelopmental disorder: autosomal dominant mental retardation with language impairment with or without autistic features. More recently, heterozygous FOXP1 variants have also been shown to cause a variety of structural birth defects including central nervous system (CNS) anomalies, congenital heart defects, congenital anomalies of the kidney and urinary tract, cryptorchidism, and hypospadias...
March 2024: Journal of Pediatric Genetics
#5
JOURNAL ARTICLE
Yanjing Chen, Ping Liu, Sijie Yi, Chunhua Fan, Wei Zhao, Jun Liu
BACKGROUND: This study aims to explore the genetic architecture shared between Attention-Deficit/Hyperactivity Disorder (ADHD) and risk behavior. METHODS: Based on the latest large-scale Genome-wide association studies (GWAS), we firstly employed Linkage disequilibrium score regression (LDSC) and Local Analysis of Variant Association (LAVA) to investigate the genetic correlation between risk behavior and ADHD. Then, we conducted cross-trait analysis to identified the Pleiotropic loci...
March 31, 2024: Journal of Affective Disorders
#6
Fengyu Che, Chenhao Li, Liyu Zhang, Chenxi Qian, Lidangzhi Mo, Benchang Li, Haibin Wu, Lifang Wang, Ying Yang
No abstract text is available yet for this article.
March 25, 2024: Journal of Applied Genetics
#7
REVIEW
Mauliza Mauliza, Herlina Dimiati, Muslim Akmal, Imran Imran
Preterm infants, born before the 37-week gestation period, have limited storage for nutrients at birth and are vulnerable to poor feeding, severe nutritional deficits and growth retardation. The immature gastrointestinal system leads preterm infants to experience a delay in initiating enteral nutrition. Inappropriate feeding can cause acute and long-term morbidity, prolonged hospitalization and increased treatment cost. Generally, preterm infants that are born after 32 weeks of gestation without severe comorbidities do not have dysphagia and should start oral feeding soon after birth...
August 2023: Narra J
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JOURNAL ARTICLE
Fengyu Che, Chenhao Li, Liyu Zhang, Chenxi Qian, Lidangzhi Mo, Benchang Li, Haibin Wu, Lifang Wang, Ying Yang
Since its initial identification, the Forkhead Box P2 gene (FOXP2) has maintained its singular status as the archetypal monogenic determinant implicated in Mendelian forms of human speech and language impairments. Despite the passage of two decades subsequent to its discovery, extant literature remains disproportionately sparse with regard to case-specific instances and loci of mutational perturbations. The objective of the current investigation centers on furnishing an enriched delineation of both its clinical manifestations and its mutational heterogeneity...
February 28, 2024: Journal of Applied Genetics
#9
JOURNAL ARTICLE
David Shin, Chang N Kim, Jayden Ross, Kelsey M Hennick, Sih-Rong Wu, Neha Paranjape, Rachel Leonard, Jerrick C Wang, Matthew G Keefe, Bryan J Pavlovic, Kevin C Donohue, Clara Moreau, Emilie M Wigdor, H Hanh Larson, Denise E Allen, Cathryn R Cadwell, Aparna Bhaduri, Galina Popova, Carrie E Bearden, Alex A Pollen, Sebastien Jacquemont, Stephan J Sanders, David Haussler, Arun P Wiita, Nicholas A Frost, Vikaas S Sohal, Tomasz J Nowakowski
Thalamic dysfunction has been implicated in multiple psychiatric disorders. We sought to study the mechanisms by which abnormalities emerge in the context of the 22q11.2 microdeletion, which confers significant genetic risk for psychiatric disorders. We investigated early stages of human thalamus development using human pluripotent stem cell-derived organoids and show that the 22q11.2 microdeletion underlies widespread transcriptional dysregulation associated with psychiatric disorders in thalamic neurons and glia, including elevated expression of FOXP2...
February 13, 2024: Cell Stem Cell
#10
REVIEW
Angela T Morgan, David J Amor, Miya D St John, Ingrid E Scheffer, Michael S Hildebrand
Severe speech disorders lead to poor literacy, reduced academic attainment and negative psychosocial outcomes. As early as the 1950s, the familial nature of speech disorders was recognized, implying a genetic basis; but the molecular genetic basis remained unknown. In 2001, investigation of a large three generational family with severe speech disorder, known as childhood apraxia of speech (CAS), revealed the first causative gene; FOXP2. A long hiatus then followed for CAS candidate genes, but in the past three years, genetic analysis of cohorts ascertained for CAS have revealed over 30 causative genes...
February 16, 2024: Molecular Psychiatry
#11
JOURNAL ARTICLE
Bo-Han He, Ya-Hui Yang, Bo-Wen Hsiao, Wan-Ting Lin, Yi-Fang Chuang, Shih-Yun Chen, Fu-Chin Liu
The forkhead box protein P2 (Foxp2), initially identified for its role in speech and language development, plays an important role in neural development. Previous studies investigated the function of the Foxp2 gene by deleting or mutating Foxp2 from developmental stages. Little is known about its physiological function in adult brains. Although Foxp2 has been well studied in the dorsal striatum, its function in the nucleus accumbens (NAc) of the ventral striatum remains elusive. Here, we examine the physiological function of Foxp2 in NAc of mouse brains...
February 12, 2024: Neuroscience
#12
REVIEW
Vivian van Wijngaarden, Hester de Wilde, Dieuwke Mink van der Molen, Jildo Petter, Inge Stegeman, Ellen Gerrits, Adriana L Smit, Marie-José van den Boogaard
INTRODUCTION: Developmental language disorder (DLD) is a common childhood condition negatively influencing communication and psychosocial development. An increasing number of pathogenic variants or chromosomal anomalies possibly related to DLD have been identified. To provide a base for accurate clinical genetic diagnostic work-up for DLD patients, understanding the specific genetic background is crucial. This study aims to give a systematic literature overview of pathogenic variants or chromosomal anomalies causative for DLD in children...
2024: Frontiers in Pediatrics
#13
JOURNAL ARTICLE
Aasiya Lakhi, Sylvia Fanucchi
Forkhead box P2 (FOXP2) regulates expression of various genes and is associated with language, speech and neural development as well as cancer. Since there may be a putative link between sex and language and because transcription factors rarely function in isolation, this study aims to investigate whether FOXP2 directly associates with oestrogen receptor α (ER1), a nuclear receptor responsible for sexual differentiation that is also associated with cancer. Isothermal titration calorimetry and fluorescence anisotropy were used to investigate the interaction between the DNA-binding forkhead domain (FHD) of FOXP2, the N-terminal region (NT) of FOXP2, and the ligand-binding domain (LBD) of ER1...
January 29, 2024: Biochimie
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JOURNAL ARTICLE
Maya Wang, Juanjuan Luo, Lu Dai, Meilan Feng, Xiaoqian Cao, Jiannan Zhang, Yiping Wan, Xiaojun Yang, Yajun Wang
FOXP2 was initially characterized as a transcription factor linked to speech and language disorders. Single-cell RNA sequencing (scRNA-seq) reveals that Foxp2 is enriched in the gonadotrope cluster of the pituitary gland and colocalized with the hormones LHB and FSHB in chickens and mice, implying that FOXP2 might be associated with reproduction in vertebrates. Herein, we investigated the roles of foxp2 in reproduction in a Foxp2-deficient zebrafish model. The results indicated that the loss of Foxp2 inhibits courtship behavior in adult male zebrafish...
January 30, 2024: Biology of Reproduction
#15
Sara A Skiba, Alek Hansen, Ryan McCall, Azeeza Byers, Sarah Waldron, Amanda J Epping, Jared P Taglialatela, Martin L Hudson
Single-nucleotide polymorphisms (SNPs) in forkhead box protein P2 ( FOXP2 ) and oxytocin receptor ( OXTR ) genes have been associated with linguistic and social development in humans, as well as to symptom severity in autism spectrum disorder (ASD). Studying biobehavioral mechanisms in the species most closely related to humans can provide insights into the origins of human communication, and the impact of genetic variation on complex behavioral phenotypes. Here, we aimed to determine if bonobos ( Pan paniscus ) exhibit individual variation in FOXP2 and OXTR loci that have been associated with human social development and behavior...
December 23, 2023: bioRxiv
#16
Harrison M Carvour, Charlotte A E G Roemer, D'Erick P Underwood, Edith Padilla, Oscar Sandoval, Megan Robertson, Mallory Miller, Natella Parsadanyan, Thomas W Perry, Anna K Radke
Mu-opioid receptors (MORs) in the amygdala and striatum are important in addictive and rewarding behaviors. Foxp2 is a marker of intercalated (ITC) cells in the amygdala and a subset of striatal medium spiny neurons (MSNs), both of which express MORs in wild-type mice. For the current series of studies, we characterized the behavior of mice with genetic deletion of the MOR gene Oprm1 in Foxp2-expressing neurons (Foxp2-Cre/Oprm1 fl/fl ). Male and female Foxp2-Cre/Oprm1 fl/fl mice were generated and heterozygous Cre+ (knockout) and homozygous Cre-(control) animals were tested for aversion-resistant alcohol consumption using an intermittent access (IA) task, operant responding for a sucrose reward, conditioned place aversion (CPA) to morphine withdrawal, and locomotor sensitization to morphine...
December 1, 2023: bioRxiv
#17
Andrew E Worthy, JoAnna T Anderson, Alicia R Lane, Laura Gomez-Perez, Anthony A Wang, Ronald W Griffith, Andre F Rivard, Jay B Bikoff, Francisco J Alvarez
UNLABELLED: Spinal cord interneurons play a crucial role in shaping motor output, but their precise identity and circuit connectivity remain unclear. Focusing on the cardinal class of inhibitory V1 interneurons, we define the diversity of four major V1 subsets according to timing of neurogenesis, genetic lineage-tracing, synaptic output to motoneurons, and synaptic inputs from muscle afferents. Birthdating delineates two early-born (Renshaw and Pou6f2) and two late-born V1 clades (Foxp2 and Sp8) suggesting sequential neurogenesis gives rise to different V1 clades...
December 1, 2023: bioRxiv
#18
JOURNAL ARTICLE
Nobuhiko Hasegawa, Takuo Hayashi, Hidetaka Niizuma, Kazutaka Kikuta, Jungo Imanishi, Makoto Endo, Hiroshi Ikeuchi, Keita Sasa, Kei Sano, Kaoru Hirabayashi, Tatsuya Takagi, Muneaki Ishijima, Shunsuke Kato, Shinji Kohsaka, Tsuyoshi Saito, Yoshiyuki Suehara
BACKGROUND: Approximately 1% of clinically treatable tyrosine kinase fusions, including anaplastic lymphoma kinase, neurotrophic tyrosine receptor kinase, RET proto-oncogene, and ROS proto-oncogene 1, have been identified in soft tissue sarcomas via comprehensive genome profiling based on DNA sequencing. Histologic tumor-specific fusion genes have been reported in approximately 20% of soft tissue sarcomas; however, unlike tyrosine kinase fusion genes, these fusions cannot be directly targeted in therapy...
November 28, 2023: Clinical Orthopaedics and related Research
#19
JOURNAL ARTICLE
Ened Rodríguez-Urgellés, Diana Casas-Torremocha, Anna Sancho-Balsells, Iván Ballasch, Esther García-García, Lluis Miquel-Rio, Arnau Manasanch, Ignacio Del Castillo, Wanqi Chen, Anika Pupak, Veronica Brito, Daniel Tornero, Manuel J Rodríguez, Analia Bortolozzi, Maria V Sanchez-Vives, Albert Giralt, Jordi Alberch
BACKGROUND: Huntington's Disease (HD) is a disorder that affects body movements. Altered glutamatergic innervation of the striatum is a major hallmark of the disease. Approximately 30% of those glutamatergic inputs come from thalamic nuclei. Foxp2 is a transcription factor involved in cell differentiation and reported low in patients with HD. However, the role of the Foxp2 in the thalamus in HD remains unexplored. METHODS: We used two different mouse models of HD, the R6/1 and the HdhQ111 mice, to demonstrate a consistent thalamic Foxp2 reduction in the context of HD...
November 21, 2023: Cellular and Molecular Life Sciences: CMLS
#20
JOURNAL ARTICLE
Lei Tang, Nana Xu, Mengyao Huang, Wei Yi, Xuan Sang, Mingting Shao, Ye Li, Zhao-Zhe Hao, Ruifeng Liu, Yuhui Shen, Feng Yue, Xialin Liu, Chuan Xu, Sheng Liu
The degenerative process in Parkinson's disease (PD) causes a progressive loss of dopaminergic neurons (DaNs) in the nigrostriatal system. Resolving the differences in neuronal susceptibility warrants an amenable PD model that, in comparison to post-mortem human specimens, controls for environmental and genetic differences in PD pathogenesis. Here we generated high-quality profiles for 250,173 cells from the substantia nigra (SN) and putamen (PT) of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-induced parkinsonian macaques and matched controls...
November 18, 2023: Nature Communications
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