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https://www.readbyqxmd.com/read/28448525/brorin-is-required-for-neurogenesis-gliogenesis-and-commissural-axon-guidance-in-the-zebrafish-forebrain
#1
Ayumi Miyake, Yoko Mekata, Hidenori Fujibayashi, Kazuya Nakanishi, Morichika Konishi, Nobuyuki Itoh
Bmps regulate numerous neural functions with their regulators. We previously identified Brorin, a neural-specific secreted antagonist of Bmp signaling, in humans, mice, and zebrafish. Mouse Brorin has two cysteine-rich domains containing 10 cysteine residues in its core region, and these are located in similar positions to those in the cysteine-rich domains of Chordin family members, which are secreted Bmp antagonists. Zebrafish Brorin had two cysteine-rich domains with high similarity to those of mouse Brorin...
2017: PloS One
https://www.readbyqxmd.com/read/28445456/floor-plate-derived-netrin-1-is-dispensable-for-commissural-axon-guidance
#2
Chloé Dominici, Juan Antonio Moreno-Bravo, Sergi Roig Puiggros, Quentin Rappeneau, Nicolas Rama, Pauline Vieugue, Agns Bernet, Patrick Mehlen, Alain Chédotal
Netrin-1 is an evolutionarily conserved, secreted extracellular matrix protein involved in axon guidance at the central nervous system midline. Netrin-1 is expressed by cells localized at the central nervous system midline, such as those of the floor plate in vertebrate embryos. Growth cone turning assays and three-dimensional gel diffusion assays have shown that netrin-1 can attract commissural axons. Loss-of-function experiments further demonstrated that commissural axon extension to the midline is severely impaired in the absence of netrin-1 (refs 3, 7, 8, 9)...
April 26, 2017: Nature
https://www.readbyqxmd.com/read/28440867/the-epileptology-of-koolen-de-vries-syndrome-electro-clinico-radiologic-findings-in-31-patients
#3
Kenneth A Myers, Simone A Mandelstam, Georgia Ramantani, Elisabeth J Rushing, Bert B de Vries, David A Koolen, Ingrid E Scheffer
OBJECTIVE: This study was designed to describe the spectrum of epilepsy phenotypes in Koolen-de Vries syndrome (KdVS), a genetic syndrome involving dysmorphic features, intellectual disability, hypotonia, and congenital malformations, that occurs secondary to 17q21.31 microdeletions and heterozygous mutations in KANSL1. METHODS: We were invited to attend a large gathering of individuals with KdVS and their families. While there, we recruited individuals with KdVS and seizures, and performed thorough phenotyping...
April 25, 2017: Epilepsia
https://www.readbyqxmd.com/read/28438183/semaphorin-plexin-signaling-influences-early-ventral-telencephalic-development-and-thalamocortical-axon-guidance
#4
Manuela D Mitsogiannis, Graham E Little, Kevin J Mitchell
BACKGROUND: Sensory processing relies on projections from the thalamus to the neocortex being established during development. Information from different sensory modalities reaching the thalamus is segregated into specialized nuclei, whose neurons then send inputs to cognate cortical areas through topographically defined axonal connections. Developing thalamocortical axons (TCAs) normally approach the cortex by extending through the subpallium; here, axonal navigation is aided by distributed guidance cues and discrete cell populations, such as the corridor neurons and the internal capsule (IC) guidepost cells...
April 24, 2017: Neural Development
https://www.readbyqxmd.com/read/28437527/ocular-motor-nerve-development-in-the-presence-and-absence-of-extraocular-muscle
#5
Suzanne M Michalak, Mary C Whitman, Jong G Park, Max A Tischfield, Elaine H Nguyen, Elizabeth C Engle
Purpose: To spatially and temporally define ocular motor nerve development in the presence and absence of extraocular muscles (EOMs). Methods: Myf5cre mice, which in the homozygous state lack EOMs, were crossed to an IslMN:GFP reporter line to fluorescently label motor neuron cell bodies and axons. Embryonic day (E) 11.5 to E15.5 wild-type and Myf5cre/cre:IslMN:GFP whole mount embryos and dissected orbits were imaged by confocal microscopy to visualize the developing oculomotor, trochlear, and abducens nerves in the presence and absence of EOMs...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28434801/netrin1-produced-by-neural-progenitors-not-floor-plate-cells-is-required-for-axon-guidance-in-the-spinal-cord
#6
Supraja G Varadarajan, Jennifer H Kong, Keith D Phan, Tzu-Jen Kao, S Carmen Panaitof, Julie Cardin, Holger Eltzschig, Artur Kania, Bennett G Novitch, Samantha J Butler
Netrin1 has been proposed to act from the floor plate (FP) as a long-range diffusible chemoattractant for commissural axons in the embryonic spinal cord. However, netrin1 mRNA and protein are also present in neural progenitors within the ventricular zone (VZ), raising the question of which source of netrin1 promotes ventrally directed axon growth. Here, we use genetic approaches in mice to selectively remove netrin from different regions of the spinal cord. Our analyses show that the FP is not the source of netrin1 directing axons to the ventral midline, while local VZ-supplied netrin1 is required for this step...
April 20, 2017: Neuron
https://www.readbyqxmd.com/read/28416822/identification-of-six-new-genetic-loci-associated-with-atrial-fibrillation-in-the-japanese-population
#7
Siew-Kee Low, Atsushi Takahashi, Yusuke Ebana, Kouichi Ozaki, Ingrid E Christophersen, Patrick T Ellinor, Soichi Ogishima, Masayuki Yamamoto, Mamoru Satoh, Makoto Sasaki, Taiki Yamaji, Motoki Iwasaki, Shoichiro Tsugane, Keitaro Tanaka, Mariko Naito, Kenji Wakai, Hideo Tanaka, Tetsushi Furukawa, Michiaki Kubo, Kaoru Ito, Yoichiro Kamatani, Toshihiro Tanaka
Atrial fibrillation is the most common cardiac arrhythmia and leads to stroke. To investigate genetic loci associated with atrial fibrillation in the Japanese population, we performed a genome-wide association study (GWAS) that included 8,180 atrial fibrillation cases and 28,612 controls with follow-up in an additional 3,120 cases and 125,064 controls. We replicated previously reported loci and identified six new loci, near the KCND3, PPFIA4, SLC1A4-CEP68, HAND2, NEBL and SH3PXD2A genes. Five of the six new loci were specifically associated with atrial fibrillation in the Japanese population after comparing our data to those from individuals of European ancestry, suggesting that there might be different genetic factors affecting susceptibility across ancestry groups...
April 17, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28412554/prompt-peripheral-nerve-regeneration-induced-by-a-hierarchically-aligned-fibrin-nanofiber-hydrogel
#8
Jinrong Du, Jianheng Liu, Shenglian Yao, Haiquan Mao, Jiang Peng, Xun Sun, Zheng Cao, Yongdong Yang, Bo Xiao, Yiguo Wang, Peifu Tang, Xiumei Wang
Fibrin plays a crucial role in peripheral nerve regeneration, which could occur spontaneously in the format of longitudinally oriented fibrin cables during the initial stage of nerve regeneration. This fibrin cable can direct migration and proliferation of Schwann cells and axonal regrowth, which is very important to nerve regeneration. In the present study, we prepared a three-dimensional hierarchically aligned fibrin nanofiber hydrogel (AFG) through electrospinning and molecular self-assembly to resemble the architecture and biological function of the native fibrin cable...
April 12, 2017: Acta Biomaterialia
https://www.readbyqxmd.com/read/28409725/genetic-landscape-of-sporadic-vestibular-schwannoma
#9
Aril Løge Håvik, Ove Bruland, Erling Myrseth, Hrvoje Miletic, Mads Aarhus, Per-Morten Knappskog, Morten Lund-Johansen
OBJECTIVE Vestibular schwannoma (VS) is a benign tumor with associated morbidities and reduced quality of life. Except for mutations in NF2, the genetic landscape of VS remains to be elucidated. Little is known about the effect of Gamma Knife radiosurgery (GKRS) on the VS genome. The aim of this study was to characterize mutations occurring in this tumor to identify new genes and signaling pathways important for the development of VS. In addition, the authors sought to evaluate whether GKRS resulted in an increase in the number of mutations...
April 14, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28406573/brief-report-robo1-regulates-the-migration-of-human-subventricular-zone-neural-progenitor-cells-during-development
#10
Hugo Guerrero-Cazares, Emily Lavell, Linda Chen, Paula Schiapparelli, Montserrat Lara-Velazquez, Vivian Capilla-Gonzalez, Anna Christina Clements, Gabrielle Drummond, Liron Noiman, Katrina Thaler, Anne Burke, Alfredo Quiñones-Hinojosa
Human neural progenitor cell (NPC) migration within the subventricular zone (SVZ) of the lateral ganglionic eminence is an active process throughout early brain development. The migration of human NPCs from the SVZ to the olfactory bulb during fetal stages resembles what occurs in adult rodents. As the human brain develops during infancy, this migratory stream is drastically reduced in cell number and becomes barely evident in adults. The mechanisms regulating human NPC migration are unknown. The Slit-Robo signaling pathway has been defined as a chemorepulsive cue involved in axon guidance and neuroblast migration in rodents...
April 13, 2017: Stem Cells
https://www.readbyqxmd.com/read/28403821/defining-the-transcriptomic-landscape-of-the-developing-enteric-nervous-system-and-its-cellular-environment
#11
Sweta Roy-Carson, Kevin Natukunda, Hsien-Chao Chou, Narinder Pal, Caitlin Farris, Stephan Q Schneider, Julie A Kuhlman
BACKGROUND: Motility and the coordination of moving food through the gastrointestinal tract rely on a complex network of neurons known as the enteric nervous system (ENS). Despite its critical function, many of the molecular mechanisms that direct the development of the ENS and the elaboration of neural network connections remain unknown. The goal of this study was to transcriptionally identify molecular pathways and candidate genes that drive specification, differentiation and the neural circuitry of specific neural progenitors, the phox2b expressing ENS cell lineage, during normal enteric nervous system development...
April 12, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28402530/mutations-in-the-human-robo1-gene-in-pituitary-stalk-interruption-syndrome
#12
Anu Bashamboo, Joelle Bignon-Topalovic, Nasser Moussi, Ken McElreavey, Raja Brauner
Context: Pituitary stalk interruption syndrome (PSIS) is characterised by a thin or absent pituitary stalk usually in association with an ectopic posterior pituitary and hypoplasia/aplasia of the anterior pituitary. Associated phenotypes include varied ocular anomalies, hypoglycemia, micropenis/cryptorchidism, growth failure or combined pituitary hormone deficiencies. Although genetic causes have been identified, they explain only around 5% of PSIS cases. Objective: To identify genetic causes of PSIS by exome sequencing...
April 11, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28396149/disco-interacting-protein-2-determines-direction-of-axon-projection-under-the-regulation-of-c-jun-n-terminal-kinase-in-the-drosophila-mushroom-body
#13
Yohei Nitta, Atsushi Sugie
Precisely controlled axon guidance for complex neuronal wiring is essential for appropriate neuronal function. c-Jun N-terminal kinase (JNK) was found to play a role in axon guidance recently as well as in cell proliferation, protection and apoptosis. In spite of many genetic and molecular studies on these biological processes regulated by JNK, how JNK regulates axon guidance accurately has not been fully explained thus far. To address this question, we use the Drosophila mushroom body (MB) as a model since the α/β axons project in two distinct directions...
May 20, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28394253/roundabout-receptor-2-maintains-inhibitory-control-of-the-adult-midbrain
#14
Bryan B Gore, Samara M Miller, Yong Sang Jo, Madison Baird, Mrinalini Hoon, Christina A Sanford, Avery Hunker, Weining Lu, Rachel O Wong, Larry S Zweifel
The maintenance of excitatory and inhibitory balance in the brain is essential for its function. Here we find that the developmental axon guidance receptor Roundabout 2 (Robo2) is critical for the maintenance of inhibitory synapses in the adult ventral tegmental area (VTA), a brain region important for the production of the neurotransmitter dopamine. Following selective genetic inactivation of Robo2 in the adult VTA of mice, reduced inhibitory control results in altered neural activity patterns, enhanced phasic dopamine release, behavioral hyperactivity, associative learning deficits, and a paradoxical inversion of psychostimulant responses...
April 10, 2017: ELife
https://www.readbyqxmd.com/read/28389905/fibrin-glue-as-a-stabilization-strategy-in-peripheral-nerve-repair-when-using-porous-nerve-guidance-conduits
#15
Divya Bhatnagar, Jared S Bushman, N Sanjeeva Murthy, Antonio Merolli, Hilton M Kaplan, Joachim Kohn
Porous conduits provide a protected pathway for nerve regeneration, while still allowing exchange of nutrients and wastes. However, pore sizes >30 µm may permit fibrous tissue infiltration into the conduit, which may impede axonal regeneration. Coating the conduit with Fibrin Glue (FG) is one option for controlling the conduit's porosity. FG is extensively used in clinical peripheral nerve repair, as a tissue sealant, filler and drug-delivery matrix. Here, we compared the performance of FG to an alternative, hyaluronic acid (HA) as a coating for porous conduits, using uncoated porous conduits and reverse autografts as control groups...
May 2017: Journal of Materials Science. Materials in Medicine
https://www.readbyqxmd.com/read/28378556/rna-seq-for-gene-expression-profiling-of-human-necrotizing-enterocolitis-a-pilot-study
#16
Kyuwhan Jung, Insong Koh, Jeong Hyun Kim, Hyun Sub Cheong, Taejin Park, So Hyun Nam, Soo Min Jung, Cherry Ann Sio, Su Yeong Kim, Euiseok Jung, Byoungkook Lee, Hye Rim Kim, Eun Shin, Sung Eun Jung, Chang Won Choi, Beyong Il Kim, Eunyoung Jung, Hyoung Doo Shin
Necrotizing enterocolitis (NEC) characterized by inflammatory intestinal necrosis is a major cause of mortality and morbidity in newborns. Deep RNA sequencing (RNA-Seq) has recently emerged as a powerful technology enabling better quantification of gene expression than microarrays with a lower background signal. A total of 10 transcriptomes from 5 pairs of NEC lesions and adjacent normal tissues obtained from preterm infants with NEC were analyzed. As a result, a total of 65 genes (57 down-regulated and 8 up-regulated) revealed significantly different expression levels in the NEC lesion compared to the adjacent normal region, based on a significance at fold change ≥ 1...
May 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28377585/messenger-rnas-localized-to-distal-projections-of-human-stem-cell-derived-neurons
#17
Rebecca L Bigler, Joyce W Kamande, Raluca Dumitru, Mark Niedringhaus, Anne Marion Taylor
The identification of mRNAs in distal projections of model organisms has led to the discovery of multiple proteins that are locally synthesized for functional roles such as axon guidance, injury signaling and regeneration. The extent to which local protein synthesis is conserved in human neurons is unknown. Here we used compartmentalized microfluidic chambers to characterize the transcriptome of distal projections of human embryonic stem cells differentiated using a protocol which enriched for glutamatergic neurons (hESC-neurons)...
April 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28359322/mutation-of-kinesin-6-kif20b-causes-defects-in-cortical-neuron-polarization-and-morphogenesis
#18
Katrina C McNeely, Timothy D Cupp, Jessica Neville Little, Kerstin M Janisch, Ayushma Shrestha, Noelle D Dwyer
BACKGROUND: How neurons change their cytoskeleton to adopt their complex polarized morphology is still not understood. Growing evidence suggests that proteins that help build microtubule structures during cell division are also involved in building and remodeling the complex cytoskeletons of neurons. Kif20b (previously called MPP1 or Mphosph1) is the most divergent member of the Kinesin-6 family of "mitotic" kinesins that also includes Kif23/MKLP1 and Kif20a/MKLP2. We previously isolated a loss-of-function mouse mutant of Kif20b and showed that it had a thalamocortical axon guidance defect and microcephaly...
March 31, 2017: Neural Development
https://www.readbyqxmd.com/read/28356311/regulation-of-brn3b-by-dlx1-and-dlx2-is-required-for-retinal-ganglion-cell-differentiation-in-the-vertebrate-retina
#19
Qi Zhang, Jamie Zagozewski, Shaohong Cheng, Rajiv Dixit, Shunzhen Zhang, Jimmy de Melo, Xiuqian Mu, William H Klein, Nadean L Brown, Jeffrey T Wigle, Carol Schuurmans, David D Eisenstat
Regulated retinal ganglion cell (RGC) differentiation and axonal guidance is required for a functional visual system. Homeodomain and basic helix loop helix transcription factors are required for retinogenesis, as well as patterning, differentiation and maintenance of specific retinal cell types. We hypothesized that Dlx1/Dlx2 and Brn3b homeobox genes function in parallel intrinsic pathways to determine RGC fate and generated Dlx1/Dlx2/Brn3b triple knockout mice. A more severe retinal phenotype was found in the Dlx1/Dlx2/Brn3b null retinas than predicted by combining features of the Brn3b single and Dlx1/Dlx2 double knockout retinas, including near total RGC loss with a marked increase in amacrine cells in the ganglion cell layer...
March 29, 2017: Development
https://www.readbyqxmd.com/read/28355229/surgery-increases-cell-death-and-induces-changes-in-gene-expression-compared-with-anesthesia-alone-in-the-developing-piglet-brain
#20
Kevin D Broad, Go Kawano, Igor Fierens, Eridan Rocha-Ferreira, Mariya Hristova, Mojgan Ezzati, Jamshid Rostami, Daniel Alonso-Alconada, Badr Chaban, Jane Hassell, Bobbi Fleiss, Pierre Gressens, Robert D Sanders, Nicola J Robertson
In a range of animal species, exposure of the brain to general anaesthesia without surgery during early infancy may adversely affect its neural and cognitive development. The mechanisms mediating this are complex but include an increase in brain cell death. In humans, attempts to link adverse cognitive development to infantile anaesthesia exposure have yielded ambiguous results. One caveat that may influence the interpretation of human studies is that infants are not exposed to general anaesthesia without surgery, raising the possibility that surgery itself, may contribute to adverse cognitive development...
2017: PloS One
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