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https://www.readbyqxmd.com/read/29728193/2q24-deletion-in-a-9-month-old-girl-with-anal-atresia-hearing-impairment-and-hypotonia
#1
Peiwei Zhao, Bing Mao, Xiaonan Cai, Jun Jiang, Zhisheng Liu, Jun Lin, Xuelian He
Deletion of 2q24.2 is a rare cytogenetic aberration in patients, exhibiting heterogeneous clinical features, and common phenotypes included developmental delay, intellectual disability, hypotonia, and mild dysmorphic features. Hearing impairment and anal atresia are rarely described. Here we described a 9-month-old female patient with hypotonia in all four limbs, developmental delay, and intellectual disability. In addition, congenital anal atresia was diagnosed and treated after birth, and hearing impairment was found in right ear...
June 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29689891/systematics-of-the-combtooth-blenny-clade-omobranchus-blenniidae-omobranchini-with-notes-on-early-life-history-stages
#2
Sean Gibbs, Peter J Hundt, Andrea Nelson, Joshua P Egan, Prasert Tongnunui, Andrew M Simons
The combtooth blenny (Blenniidae) genus Omobranchus contains small, cryptobenthic fishes common to nearshore habitats throughout the Indo-West Pacific. Recent molecular systematic studies have resolved Omobranchus as monophyletic but little research has been done to resolve species-level relationships. Herein, phylogenetic analyses of one mitochondrial (CO1) and four nuclear (ENC1, myh6, sreb2, and tbr1) genes provide evidence for the monophyly of Omobranchus and support for the elongatus and banditus species group...
January 3, 2018: Zootaxa
https://www.readbyqxmd.com/read/29688272/cellular-plasticity-in-the-adult-murine-piriform-cortex-continuous-maturation-of-dormant-precursors-into-excitatory-neurons
#3
Peter Rotheneichner, Maria Belles, Bruno Benedetti, Richard König, Dominik Dannehl, Christina Kreutzer, Pia Zaunmair, Maren Engelhardt, Ludwig Aigner, Juan Nacher, Sebastien Couillard-Despres
Neurogenesis in the healthy adult murine brain is based on proliferation and integration of stem/progenitor cells and is thought to be restricted to 2 neurogenic niches: the subventricular zone and the dentate gyrus. Intriguingly, cells expressing the immature neuronal marker doublecortin (DCX) and the polysialylated-neural cell adhesion molecule reside in layer II of the piriform cortex. Apparently, these cells progressively disappear along the course of ageing, while their fate and function remain unclear...
April 21, 2018: Cerebral Cortex
https://www.readbyqxmd.com/read/29515369/mapping-of-human-foxp2-enhancers-reveals-complex-regulation
#4
Martin Becker, Paolo Devanna, Simon E Fisher, Sonja C Vernes
Mutations of the FOXP2 gene cause a severe speech and language disorder, providing a molecular window into the neurobiology of language. Individuals with FOXP2 mutations have structural and functional alterations affecting brain circuits that overlap with sites of FOXP2 expression, including regions of the cortex, striatum, and cerebellum. FOXP2 displays complex patterns of expression in the brain, as well as in non-neuronal tissues, suggesting that sophisticated regulatory mechanisms control its spatio-temporal expression...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29437173/human-brain-organoid-on-a-chip-to-model-prenatal-nicotine-exposure
#5
Yaqing Wang, Li Wang, Yujuan Zhu, Jianhua Qin
Nicotine has been recognized to trigger various neuronal disabilities in the fetal brain and long-lasting behavioral deficits in offspring. However, further understanding of fetal brain development under nicotine exposure is challenging due to the limitations of existing animal models. Here, we create a new brain organoid-on-a-chip system derived from human induced pluripotent stem cells (hiPSCs) that allows us to model neurodevelopmental disorders under prenatal nicotine exposure (PNE) at early stages. The brain organoid-on-a-chip system facilitates 3D culture, in situ neural differentiation, and self-organization of brain organoids under continuous perfused cultures in a controlled manner...
March 13, 2018: Lab on a Chip
https://www.readbyqxmd.com/read/29417440/caffeine-protects-against-anticonvulsant-induced-impaired-neurogenesis-in-the-developing-rat-brain
#6
Stefanie Endesfelder, Ulrike Weichelt, Cornelia Schiller, Katja Winter, Clarissa von Haefen, Christoph Bührer
In preterm infants, phenobarbital is the first-line antiepileptic drug for neonatal seizures while caffeine is used for the treatment of apnea. Data from experimental animals suggest that phenobarbital and other anticonvulsants are toxic for the developing brain, while neuroprotective effects have been reported for caffeine both in newborn rodents and preterm human infants. To characterize the interaction of phenobarbital and caffeine in the hippocampus of the developing rodent brain, we examined the effects of both drugs given separately or together on postnatal neurogenesis after administration to neonatal rats throughout postnatal day (P) 4 to P6...
February 7, 2018: Neurotoxicity Research
https://www.readbyqxmd.com/read/29288087/the-tbr1-related-autistic-spectrum-disorder-phenotype-and-its-clinical-spectrum
#7
J H McDermott, D D D Study, J Clayton-Smith, T A Briggs
A diverse range of genetic aberrations can lead to Autistic Spectrum Disorder (ASD) and many of these have been identified via Next Generation Sequencing (NGS) as part of large scale consortium studies. ASD is a phenotypically variable disorder and detailed clinical descriptions are essential to appreciate genotype-phenotype relationships. In this report, we provide a comprehensive clinical description of a child with ASD in whom a TBR1 variant was identified. We review this case in the context of the current TBR1 literature and highlight the variable spectrum of disease associated with this gene...
December 27, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29273633/otx1-regulates-cell-cycle-progression-of-neural-progenitors-in-the-developing-cerebral-cortex
#8
Baoshan Huang, Xue Li, Xiaomeng Tu, Wei Zhao, Dan Zhu, Yue Feng, Xiang Si, Jie-Guang Chen
The progenitor cells in the cerebral cortex coordinate proliferation and mitotic exit to generate the correct number of neurons and glial cells during development. However, mechanisms for regulating the mitotic cycle of cortical progenitors are not fully understood. Otx1 is one of the homeobox-containing transcription factors frequently implicated in the development of the central nervous system. Mice bearing a targeted deletion of Otx1 exhibit brain hypoplasia and a decrease in the number of cortical neurons...
February 9, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29259547/a-radial-glia-fascicle-leads-principal-neurons-from-the-pallial-subpallial-boundary-into-the-developing-human-insula
#9
Emilio González-Arnay, Miriam González-Gómez, Gundela Meyer
The human insular lobe, in the depth of the Sylvian fissure, displays three main cytoarchitectonic divisions defined by the differentiation of granular layers II and IV. These comprise a rostro-ventral agranular area, an intermediate dysgranular area, and a dorso-caudal granular area. Immunohistochemistry in human embryos and fetuses using antibodies against PCNA, Vimentin, Nestin, Tbr1, and Tb2 reveals that the insular cortex is unique in that it develops far away from the ventricular zone (VZ), with most of its principal neurons deriving from the subventricular zone (SVZ) of the pallial-subpallial boundary (PSB)...
2017: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/29217680/non-newly-generated-immature-neurons-in-the-sheep-brain-are-not-restricted-to-cerebral-cortex
#10
Matteo Piumatti, Ottavia Palazzo, Chiara La Rosa, Paola Crociara, Roberta Parolisi, Federico Luzzati, Frederic Lévy, Luca Bonfanti
A newly proposed form of brain structural plasticity consists of non-newly generated, "immature" neurons of the adult cerebral cortex. Similar to newly generated neurons, these cells express the cytoskeletal protein Doublecortin (DCX), yet they are generated prenatally and then remain in a state of immaturity for long periods. In rodents, the immature neurons are restricted to the paleocortex, whereas in other mammals, they are also found in neocortex. Here, we analyzed the DCX-expressing cells in the whole sheep brain of both sexes to search for an indicator of structural plasticity at a cellular level in a relatively large-brained, long-living mammal...
January 24, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29205104/coup-tf1-modulates-thyroid-hormone-action-in-an-embryonic-stem-cell-model-of-cortical-pyramidal-neuronal-differentiation
#11
Xiaochun Teng, Yan-Yun Liu, Weiping Teng, Gregory A Brent
BACKGROUND: Thyroid hormone is critical for normal brain development and acts in a spatial and temporal specific pattern. Thyroid hormone excess, or deficiency, can lead to irreversible impairment of brain and sensory development. Chicken ovalbumin upstream-transcription factor 1 (COUP-TF1), expressed early in neuronal development, is essential to achieve normal brain structure. Thyroid hormone stimulation of gene expression is inversely correlated with the level of COUP-TF1 expression...
January 10, 2018: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/29160172/neural-differentiation-of-spheroids-derived-from-human-induced-pluripotent-stem-cells-mesenchymal-stem-cells-coculture
#12
Liqing Song, Ang-Chen Tsai, Xuegang Yuan, Julie Bejoy, Sébastien Sart, Teng Ma, Yan Li
Organoids, the condensed three-dimensional (3D) tissues emerged at the early stage of organogenesis, are a promising approach to regenerate functional and vascularized organ mimics. While incorporation of heterotypic cell types, such as human mesenchymal stem cells (hMSCs) and human induced pluripotent stem cells (hiPSCs)-derived neural progenitors aid neural organ development, the interactions of secreted factors during neurogenesis have not been well understood. The objective of this study is to investigate the impact of the composition and structure of 3D hybrid spheroids of hiPSCs and hMSCs on dorsal cortical differentiation and the secretion of extracellular matrices and trophic factors in vitro...
January 3, 2018: Tissue Engineering. Part A
https://www.readbyqxmd.com/read/29128818/comparison-of-2d-and-3d-neural-induction-methods-for-the-generation-of-neural-progenitor-cells-from-human-induced-pluripotent-stem-cells
#13
COMPARATIVE STUDY
Abinaya Chandrasekaran, Hasan X Avci, Anna Ochalek, Lone N Rösingh, Kinga Molnár, Lajos László, Tamás Bellák, Annamária Téglási, Krisztina Pesti, Arpad Mike, Phetcharat Phanthong, Orsolya Bíró, Vanessa Hall, Narisorn Kitiyanant, Karl-Heinz Krause, Julianna Kobolák, András Dinnyés
Neural progenitor cells (NPCs) from human induced pluripotent stem cells (hiPSCs) are frequently induced using 3D culture methodologies however, it is unknown whether spheroid-based (3D) neural induction is actually superior to monolayer (2D) neural induction. Our aim was to compare the efficiency of 2D induction with 3D induction method in their ability to generate NPCs, and subsequently neurons and astrocytes. Neural differentiation was analysed at the protein level qualitatively by immunocytochemistry and quantitatively by flow cytometry for NPC (SOX1, PAX6, NESTIN), neuronal (MAP2, TUBB3), cortical layer (TBR1, CUX1) and glial markers (SOX9, GFAP, AQP4)...
December 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28939666/the-e2a-splice-variant-e47-regulates-the-differentiation-of-projection-neurons-via-p57-kip2-during-cortical-development
#14
Sabrina Pfurr, Yu-Hsuan Chu, Christian Bohrer, Franziska Greulich, Robert Beattie, Könül Mammadzada, Miriam Hils, Sebastian J Arnold, Verdon Taylor, Kristina Schachtrup, N Henriette Uhlenhaut, Christian Schachtrup
During corticogenesis, distinct classes of neurons are born from progenitor cells located in the ventricular and subventricular zones, from where they migrate towards the pial surface to assemble into highly organized layer-specific circuits. However, the precise and coordinated transcriptional network activity defining neuronal identity is still not understood. Here, we show that genetic depletion of the basic helix-loop-helix (bHLH) transcription factor E2A splice variant E47 increased the number of Tbr1-positive deep layer and Satb2-positive upper layer neurons at E14...
November 1, 2017: Development
https://www.readbyqxmd.com/read/28891227/expression-of-regulatory-genes-in-the-embryonic-brain-of-a-lizard-and-implications-for-understanding-pallial-organization-and-evolution
#15
Ester Desfilis, Antonio Abellán, Vicente Sentandreu, Loreta Medina
The comparison of gene expression patterns in the embryonic brain of mouse and chicken is being essential for understanding pallial organization. However, the scarcity of gene expression data in reptiles, crucial for understanding evolution, makes it difficult to identify homologues of pallial divisions in different amniotes. We cloned and analyzed the expression of the genes Emx1, Lhx2, Lhx9, and Tbr1 in the embryonic telencephalon of the lacertid lizard Psammodromus algirus. The comparative expression patterns of these genes, critical for pallial development, are better understood when using a recently proposed six-part model of pallial divisions...
January 1, 2018: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/28833756/multinodular-and-vacuolating-neuronal-tumors-in-epilepsy-dysplasia-or-neoplasia
#16
Maria Thom, Joan Liu, Anika Bongaarts, Roy J Reinten, Beatrice Paradiso, Hans Rolf Jäger, Cheryl Reeves, Alyma Somani, Shu An, Derek Marsdon, Andrew McEvoy, Anna Miserocchi, Lewis Thorne, Fay Newman, Sorin Bucur, Mrinalini Honavar, Tom Jacques, Eleonora Aronica
Multinodular and vacuolating neuronal tumor (MVNT) is a new pattern of neuronal tumour included in the recently revised WHO 2016 classification of tumors of the CNS. There are 15 reports in the literature to date. They are typically associated with late onset epilepsy and a neoplastic vs. malformative biology has been questioned. We present a series of ten cases and compare their pathological and genetic features to better characterized epilepsy-associated malformations including focal cortical dysplasia type II (FCDII) and low-grade epilepsy-associated tumors (LEAT)...
March 2018: Brain Pathology
https://www.readbyqxmd.com/read/28726548/wnt-yes-associated-protein-interactions-during-neural-tissue-patterning-of-human-induced-pluripotent-stem-cells
#17
Julie Bejoy, Liqing Song, Yi Zhou, Yan Li
Human induced pluripotent stem cells (hiPSCs) have special ability to self-assemble into neural spheroids or mini-brain-like structures. During the self-assembly process, Wnt signaling plays an important role in regional patterning and establishing positional identity of hiPSC-derived neural progenitors. Recently, the role of Wnt signaling in regulating Yes-associated protein (YAP) expression (nuclear or cytoplasmic), the pivotal regulator during organ growth and tissue generation, has attracted increasing interests...
August 31, 2017: Tissue Engineering. Part A
https://www.readbyqxmd.com/read/28677231/development-of-deep-and-upper-neuronal-layers-in-the-domestic-cat-sheep-and-pig-neocortex
#18
M Glatzle, M Hoops, J Kauffold, J Seeger, S A Fietz
The neocortex plays a key role in cognition, volitional motor control and sensory perception and has undergone tremendous expansion during evolution. The mature neocortex consists of radially aligned neurons that are arranged in six layers. Layers II-VI are often split into two groups: deep and upper layers, both building up the so-called cortical plate during embryonic and foetal development. So far cortical neurogenesis, including the generation of deep and upper layers, has mostly been studied in laboratory rodents and primates...
August 2017: Anatomia, Histologia, Embryologia
https://www.readbyqxmd.com/read/28647514/aqueous-cigarette-tar-extracts-disrupt-corticogenesis-from-human-embryonic-stem-cells-in-vitro
#19
Aynun N Begum, Jose S Aguilar, Yiling Hong
BACKGROUND: Cigarette butts are the most common form of litter in the world, and approximately 4.5 trillion smoked cigarettes are discarded every year worldwide. Cigarette butts contain over 4000 chemicals, many of which are known to have neurotoxic effects. Stem cell neuronal differentiation provides an excellent cellular model with which to examine the impact of aqueous cigarette tar extracts (ACTEs) on neurodevelopment. METHODS: We have developed a neurosphere-based stem cell neuronal differentiation protocol that can recapitulate corticogenesis and produce cell types that are similar to upper and lower layer cortical projection neurons found in the germinal zone of the developing human cortex...
October 2017: Environmental Research
https://www.readbyqxmd.com/read/28607372/enhanced-derivation-of-human-pluripotent-stem-cell-derived-cortical-glutamatergic-neurons-by-a-small-molecule
#20
Shi-Ying Cao, Yao Hu, Cheng Chen, Fang Yuan, Min Xu, Qi Li, Kai-Heng Fang, Yaoyu Chen, Yan Liu
Human pluripotent stem cells (hPSCs) play important role in studying the function of human glutamatergic neurons and related disease pathogenesis. However, the current hPSC-derived cortical system produced a significant number of inhibitory GABAergic neurons that reduced the purity of excitatory neurons. In this study, we established a robust hPSC-derived cortical neurogenesis system by applying the SHH inhibitor cyclopamine. Cyclopamine specified the dorsal cortical fate in a dose-dependent manner and enhanced the generation of cortical glutamatergic neurons, expressing PAX6, TBR1, TBR2, CTIP2, SATB2, and vesicular glutamate transporters (vGLUT)...
June 12, 2017: Scientific Reports
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