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https://www.readbyqxmd.com/read/27933109/functional-characterization-of-rare-foxp2-variants-in-neurodevelopmental-disorder
#1
Sara B Estruch, Sarah A Graham, Swathi M Chinnappa, Pelagia Deriziotis, Simon E Fisher
BACKGROUND: Heterozygous disruption of FOXP2 causes a rare form of speech and language impairment. Screens of the FOXP2 sequence in individuals with speech/language-related disorders have identified several rare protein-altering variants, but their phenotypic relevance is often unclear. FOXP2 encodes a transcription factor with a forkhead box DNA-binding domain, but little is known about the functions of protein regions outside this domain. METHODS: We performed detailed functional analyses of seven rare FOXP2 variants found in affected cases, including three which have not been previously characterized, testing intracellular localization, transcriptional regulation, dimerization, and interaction with other proteins...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27888071/cell-type-specific-expression-of-foxp2-in-the-ferret-and-mouse-retina
#2
Chihiro Sato, Lena Iwai-Takekoshi, Yoshie Ichikawa, Hiroshi Kawasaki
Although the anatomical and physiological properties of subtypes of retinal ganglion cells (RGCs) have been extensively investigated, their molecular properties are still unclear. Here, we examined the expression patterns of FoxP2 in the retina of ferrets and mice. We found that FoxP2 was expressed in small subsets of neurons in the adult ferret retina. FoxP2-positive neurons in the ganglion cell layer were divided into two groups. Large FoxP2-positive neurons expressed Brn3a and were retrogradely labeled with cholera toxin subunit B injected into the optic nerve, indicating that they are RGCs...
November 22, 2016: Neuroscience Research
https://www.readbyqxmd.com/read/27877146/a-gradualist-scenario-for-language-evolution-precise-linguistic-reconstruction-of-early-human-and-neandertal-grammars
#3
Ljiljana Progovac
In making an argument for the antiquity of language, based on comparative evidence, Dediu and Levinson (2013) express hope that some combinations of structural features will prove so conservative that they will allow deep linguistic reconstruction. I propose that the earliest stages of syntax/grammar as reconstructed in Progovac (2015a), based on a theoretical and data-driven linguistic analysis, provide just such a conservative platform, which would have been commanded also by Neandertals and the common ancestor...
2016: Frontiers in Psychology
https://www.readbyqxmd.com/read/27867345/language-impairment-resulting-from-a-de-novo-deletion-of-7q32-1q33
#4
María S Jiménez-Romero, Montserrat Barcos-Martínez, Isabel Espejo-Portero, Antonio Benítez-Burraco
We report on a girl who presents with hearing loss, behavioral disturbances (according to the Inventory for Client and Agency Planning) as well as motor and cognitive delay (according to Battelle Developmental Inventories) which have a significant impact on her speech and language abilities [according to the Peabody Picture Vocabulary Test (ed 3), and the Prueba de Lenguaje Oral de Navarra-Revisada (Navarra Oral Language Test, Revised)]. Five copy number variations (CNVs) were identified in the child: arr[hg18] 7q32...
October 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27832815/in-vivo-human-adipose-derived-mesenchymal-stem-cell-tracking-after-intra-articular-delivery-in-a-rat-osteoarthritis-model
#5
Meng Li, Xuan Luo, Xiaoteng Lv, Victor Liu, Guangyu Zhao, Xue Zhang, Wei Cao, Richard Wang, Wen Wang
BACKGROUND: Human adipose-derived mesenchymal stem cells (haMSCs) have shown efficacy in treating osteoarthritis (OA) both preclinically and clinically via intra-articular (IA) injection. However, understanding the mode of action of the cell therapy has been limited by cell tracking capability and correlation between the pharmacokinetics of the injected cells and the intended pharmacodynamics effect. This study aims to explore methodology and to understand in vivo biodistribution of clinical-grade haMSCs labeled with fluorescent dye and injected into an immunocompetent OA rat model...
November 10, 2016: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/27812326/a-foxp2-mutation-implicated-in-human-speech-deficits-alters-sequencing-of-ultrasonic-vocalizations-in-adult-male-mice
#6
Jonathan Chabout, Abhra Sarkar, Sheel R Patel, Taylor Radden, David B Dunson, Simon E Fisher, Erich D Jarvis
Development of proficient spoken language skills is disrupted by mutations of the FOXP2 transcription factor. A heterozygous missense mutation in the KE family causes speech apraxia, involving difficulty producing words with complex learned sequences of syllables. Manipulations in songbirds have helped to elucidate the role of this gene in vocal learning, but findings in non-human mammals have been limited or inconclusive. Here, we performed a systematic study of ultrasonic vocalizations (USVs) of adult male mice carrying the KE family mutation...
2016: Frontiers in Behavioral Neuroscience
https://www.readbyqxmd.com/read/27734906/early-neuroimaging-markers-of-foxp2-intragenic-deletion
#7
Frédérique J Liégeois, Michael S Hildebrand, Alexandra Bonthrone, Samantha J Turner, Ingrid E Scheffer, Melanie Bahlo, Alan Connelly, Angela T Morgan
FOXP2 is the major gene associated with severe, persistent, developmental speech and language disorders. While studies in the original family in which a FOXP2 mutation was found showed volume reduction and reduced activation in core language and speech networks, there have been no imaging studies of different FOXP2 mutations. We conducted a multimodal MRI study in an eight-year-old boy (A-II) with a de novo FOXP2 intragenic deletion. A-II showed marked bilateral volume reductions in the hippocampus, thalamus, globus pallidus, and caudate nucleus compared with 26 control males (effect sizes from -1 to -3)...
October 13, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27721656/role-of-mirna-9-in-brain-development
#8
Balachandar Radhakrishnan, A Alwin Prem Anand
MicroRNAs (miRNAs) are a class of small regulatory RNAs involved in gene regulation. The regulation is effected by either translational inhibition or transcriptional silencing. In vertebrates, the importance of miRNA in development was discovered from mice and zebrafish dicer knockouts. The miRNA-9 (miR-9) is one of the most highly expressed miRNAs in the early and adult vertebrate brain. It has diverse functions within the developing vertebrate brain. In this article, the role of miR-9 in the developing forebrain (telencephalon and diencephalon), midbrain, hindbrain, and spinal cord of vertebrate species is highlighted...
2016: Journal of Experimental Neuroscience
https://www.readbyqxmd.com/read/27595386/foxp2-controls-synaptic-wiring-of-corticostriatal-circuits-and-vocal-communication-by-opposing-mef2c
#9
Yi-Chuan Chen, Hsiao-Ying Kuo, Ulrich Bornschein, Hiroshi Takahashi, Shih-Yun Chen, Kuan-Ming Lu, Hao-Yu Yang, Gui-May Chen, Jing-Ruei Lin, Yi-Hsin Lee, Yun-Chia Chou, Sin-Jhong Cheng, Cheng-Ting Chien, Wolfgang Enard, Wulf Hevers, Svante Pääbo, Ann M Graybiel, Fu-Chin Liu
Cortico-basal ganglia circuits are critical for speech and language and are implicated in autism spectrum disorder, in which language function can be severely affected. We demonstrate that in the mouse striatum, the gene Foxp2 negatively interacts with the synapse suppressor gene Mef2c. We present causal evidence that Mef2c inhibition by Foxp2 in neonatal mouse striatum controls synaptogenesis of corticostriatal inputs and vocalization in neonates. Mef2c suppresses corticostriatal synapse formation and striatal spinogenesis, but can itself be repressed by Foxp2 through direct DNA binding...
November 2016: Nature Neuroscience
https://www.readbyqxmd.com/read/27572252/foxp2-variants-in-14-individuals-with-developmental-speech-and-language-disorders-broaden-the-mutational-and-clinical-spectrum
#10
Miriam S Reuter, Angelika Riess, Ute Moog, Tracy A Briggs, Kate E Chandler, Anita Rauch, Miriam Stampfer, Katharina Steindl, Dieter Gläser, Pascal Joset, Mandy Krumbiegel, Harald Rabe, Uta Schulte-Mattler, Peter Bauer, Stefanie Beck-Wödl, Jürgen Kohlhase, André Reis, Christiane Zweier
BACKGROUND: Disruptions of the FOXP2 gene, encoding a forkhead transcription factor, are the first known monogenic cause of a speech and language disorder. So far, mainly chromosomal rearrangements such as translocations or larger deletions affecting FOXP2 have been reported. Intragenic deletions or convincingly pathogenic point mutations in FOXP2 have up to date only been reported in three families. We thus aimed at a further characterisation of the mutational and clinical spectrum. METHODS: Chromosomal microarray testing, trio exome sequencing, multigene panel sequencing and targeted sequencing of FOXP2 were performed in individuals with variable developmental disorders, and speech and language deficits...
August 29, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27536221/development-and-maturation-of-embryonic-cortical-neurons-grafted-into-the-damaged-adult-motor-cortex
#11
Nissrine Ballout, Isabelle Frappé, Sophie Péron, Mohamed Jaber, Kazem Zibara, Afsaneh Gaillard
Injury to the human central nervous system can lead to devastating consequences due to its poor ability to self-repair. Neural transplantation aimed at replacing lost neurons and restore functional circuitry has proven to be a promising therapeutical avenue. We previously reported in adult rodent animal models with cortical lesions that grafted fetal cortical neurons could effectively re-establish specific patterns of projections and synapses. The current study was designed to provide a detailed characterization of the spatio-temporal in vivo development of fetal cortical transplanted cells within the lesioned adult motor cortex and their corresponding axonal projections...
2016: Frontiers in Neural Circuits
https://www.readbyqxmd.com/read/27497476/foxp2-expression-in-frontotemporal-lobar-degeneration-tau
#12
Irene López-González, Andre Palmeira, Ester Aso, Margarita Carmona, Liana Fernandez, Isidro Ferrer
FOXP2 is altered in a variety of language disorders. We found reduced mRNA and protein expression of FOXP2 in frontal cortex area 8 in Pick's disease, and frontotemporal lobar degeneration-tau linked to P301L mutation presenting with language impairment in comparison with age-matched controls and cases with parkinsonian variant progressive supranuclear palsy. Foxp2 mRNA and protein are also reduced with disease progression in the somatosensory cortex in transgenic mice bearing the P301S mutation in MAPT when compared with wild-type littermates...
September 6, 2016: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27489533/partial-conservation-between-mice-and-humans-in-olfactory-bulb-interneuron-transcription-factor-codes
#13
Nana Fujiwara, John W Cave
The mammalian main olfactory bulb (OB) has a large population of GABAergic inhibitory interneurons that contains several subtypes defined by the co-expression other neurotransmitters and calcium binding proteins. The three most commonly studied OB interneuron subtypes co-express either Calretinin, Calbindin, or Tyrosine hydroxylase (Th). Combinations of transcription factors used to specify the phenotype of progenitors are referred to as transcription factor codes, and the current understanding of transcription factor codes that specify OB inhibitory neuron phenotypes are largely based on studies in mice...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/27384060/foxp2-regulates-identities-and-projection-patterns-of-thalamic-nuclei-during-development
#14
Haruka Ebisu, Lena Iwai-Takekoshi, Eriko Fujita-Jimbo, Takashi Momoi, Hiroshi Kawasaki
The molecular mechanisms underlying the formation of the thalamus during development have been investigated intensively. Although transcription factors distinguishing the thalamic primordium from adjacent brain structures have been uncovered, those involved in patterning inside the thalamus are largely unclear. Here, we show that Foxp2, a member of the forkhead transcription factor family, regulates thalamic patterning during development. We found a graded expression pattern of Foxp2 in the thalamic primordium of the mouse embryo...
July 6, 2016: Cerebral Cortex
https://www.readbyqxmd.com/read/27382302/microrna-190-regulates-foxp2-genes-in-human-gastric-cancer
#15
Wen-Zhuo Jia, Tao Yu, Qi An, Hua Yang, Zhu Zhang, Xiao Liu, Gang Xiao
OBJECTIVE: To investigate how microRNA-190 (miR-190) regulates FOXP2 genes in gastric cancer (GC) cell line SGC7901. METHODS: We identified that miR-190 could target FOXP2 genes by using dual luciferase enzyme assay. Precursor fragment transfection of miR-190 was performed with GC cell line SGC7901 and human gastric mucosal cell line GES-1. miR-190 expression was detected by reverse transcription-polymerase chain reaction (RT-PCR) and FOXP2 protein expression was measured by Western blotting...
2016: OncoTargets and Therapy
https://www.readbyqxmd.com/read/27351196/a-common-cyfip1-variant-at-the-15q11-2-disease-locus-is-associated-with-structural-variation-at-the-language-related-left-supramarginal-gyrus
#16
Young Jae Woo, Tao Wang, Tulio Guadalupe, Rebecca A Nebel, Arianna Vino, Victor A Del Bene, Sophie Molholm, Lars A Ross, Marcel P Zwiers, Simon E Fisher, John J Foxe, Brett S Abrahams
Copy number variants (CNVs) at the Breakpoint 1 to Breakpoint 2 region at 15q11.2 (BP1-2) are associated with language-related difficulties and increased risk for developmental disorders in which language is compromised. Towards underlying mechanisms, we investigated relationships between single nucleotide polymorphisms (SNPs) across the region and quantitative measures of human brain structure obtained by magnetic resonance imaging of healthy subjects. We report an association between rs4778298, a common variant at CYFIP1, and inter-individual variation in surface area across the left supramarginal gyrus (lh...
2016: PloS One
https://www.readbyqxmd.com/read/27314063/silencing-foxp2-in-breast-cancer-cells-promotes-cancer-stem-cell-traits-and-metastasis
#17
Benjamin G Cuiffo, Antoine E Karnoub
In a recent article in Cell Stem Cell, we showed that mesenchymal stem cells (MSCs), progenitor cells that populate the breast tumor stroma, induce microRNA-mediated FOXP2 repression in breast cancer cells (BCCs), thus promoting cancer stem cell (CSC) and metastatic traits. Here, we discuss the implications of these findings for understanding metastatic CSC genesis.
May 2016: Molecular & Cellular Oncology
https://www.readbyqxmd.com/read/27224915/foxp2-positive-diffuse-large-b-cell-lymphomas-exhibit-a-poor-response-to-r-chop-therapy-and-distinct-biological-signatures
#18
Kah Keng Wong, Duncan M Gascoyne, Elizabeth J Soilleux, Linden Lyne, Hayley Spearman, Giovanna Roncador, Lars M Pedersen, Michael B Møller, Tina M Green, Alison H Banham
FOXP2 shares partially overlapping normal tissue expression and functionality with FOXP1; an established diffuse large B-cell lymphoma (DLBCL) oncogene and marker of poor prognosis. FOXP2 is expressed in the plasma cell malignancy multiple myeloma but has not been studied in DLBCL, where a poor prognosis activated B-cell (ABC)-like subtype display partially blocked plasma cell differentiation. FOXP2 protein expression was detected in ABC-DLBCL cell lines, and in primary DLBCL samples tumoral FOXP2 protein expression was detected in both germinal center B-cell-like (GCB) and non-GCB DLBCL...
May 20, 2016: Oncotarget
https://www.readbyqxmd.com/read/27215640/duplication-of-foxp2-binding-sites-within-cntnap2-gene-in-a-girl-with-neurodevelopmental-delay
#19
Renato Polimanti, Rosanna Squitti, Marilena Pantaleo, Sabrina Giglio, Giancarlo Zito
No abstract text is available yet for this article.
May 24, 2016: Minerva Pediatrica
https://www.readbyqxmd.com/read/27210758/two-pairs-of-on-and-off-retinal-ganglion-cells-are-defined-by-intersectional-patterns-of-transcription-factor-expression
#20
David L Rousso, Mu Qiao, Ruth D Kagan, Masahito Yamagata, Richard D Palmiter, Joshua R Sanes
Visual information is conveyed to the brain by axons of >30 retinal ganglion cell (RGC) types. Characterization of these types is a prerequisite to understanding visual perception. Here, we identify a family of RGCs that we call F-RGCs on the basis of expression of the transcription factor Foxp2. Intersectional expression of Foxp1 and Brn3 transcription factors divides F-RGCs into four types, comprising two pairs, each composed of closely related cells. One pair, F-mini(ON) and F-mini(OFF), shows robust direction selectivity...
May 31, 2016: Cell Reports
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