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https://www.readbyqxmd.com/read/29470955/pi3k-regulates-intraepithelial-cell-positioning-through-rho-gtp-ases-in-the-developing-neural-tube
#1
Blanca Torroba, Antonio Herrera, Anghara Menendez, Sebastian Pons
Phosphatidylinositol 3-kinases (PI3Ks) are signal transducers of many biological processes. Class 1A PI3Ks are hetero dimers formed by a regulatory and a catalytic subunit. We have used the developing chicken neural tube (NT) to study the roles played by PI3K during the process of cell proliferation and differentiation. Notably, we have observed that in addition to its well characterized anti apoptotic activity, PI3K also plays a crucial role in intra epithelial cell positioning, and unlike its role in survival that mainly depends on AKT, the activity in cell positioning is mediated by Rho GTPase family members...
February 19, 2018: Developmental Biology
https://www.readbyqxmd.com/read/29463853/spina-bifida-predisposing-heterozygous-mutations-in-planar-cell-polarity-genes-and-zic2-reduce-bone-mass-in-young-mice
#2
Isabel R Orriss, Stuart Lanham, Dawn Savery, Nicholas D E Greene, Philip Stanier, Richard Oreffo, Andrew J Copp, Gabriel L Galea
Fractures are a common comorbidity in children with the neural tube defect (NTD) spina bifida. Mutations in the Wnt/planar cell polarity (PCP) pathway contribute to NTDs in humans and mice, but whether this pathway independently determines bone mass is poorly understood. Here, we first confirmed that core Wnt/PCP components are expressed in osteoblasts and osteoclasts in vitro. In vivo, we performed detailed µCT comparisons of bone structure in tibiae from young male mice heterozygous for NTD-associated mutations versus WT littermates...
February 20, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29447907/wilhelm-his-lasting-insights-into-hindbrain-and-cranial-ganglia-development-and-evolution
#3
REVIEW
Joel C Glover, Karen L Elliott, Albert Erives, Victor V Chizhikov, Bernd Fritzsch
Wilhelm His (1831-1904) provided lasting insights into the development of the central and peripheral nervous system using innovative technologies such as the microtome, which he invented. 150 years after his resurrection of the classical germ layer theory of Wolff, von Baer and Remak, his description of the developmental origin of cranial and spinal ganglia from a distinct cell population, now known as the neural crest, has stood the test of time and more recently sparked tremendous advances regarding the molecular development of these important cells...
February 12, 2018: Developmental Biology
https://www.readbyqxmd.com/read/29440680/an-allogeneic-off-the-shelf-therapeutic-strategy-for-peripheral-nerve-tissue-engineering-using-clinical-grade-human-neural-stem-cells
#4
C O'Rourke, A G E Day, C Murray-Dunning, L Thanabalasundaram, J Cowan, L Stevanato, N Grace, G Cameron, R A L Drake, J Sinden, J B Phillips
Artificial tissues constructed from therapeutic cells offer a promising approach for improving the treatment of severe peripheral nerve injuries. In this study the effectiveness of using CTX0E03, a conditionally immortalised human neural stem cell line, as a source of allogeneic cells for constructing living artificial nerve repair tissue was tested. CTX0E03 cells were differentiated then combined with collagen to form engineered neural tissue (EngNT-CTX), stable aligned sheets of cellular hydrogel. EngNT-CTX sheets were delivered within collagen tubes to repair a 12 mm sciatic nerve injury model in athymic nude rats...
February 13, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29440666/folic-acid-exposure-rescues-spina-bifida-aperta-phenotypes-in-human-induced-pluripotent-stem-cell-model
#5
Vardine Sahakyan, Robin Duelen, Wai Long Tam, Scott J Roberts, Hanne Grosemans, Pieter Berckmans, Gabriele Ceccarelli, Gloria Pelizzo, Vania Broccoli, Jan Deprest, Frank P Luyten, Catherine M Verfaillie, Maurilio Sampaolesi
Neural tube defects (NTDs) are severe congenital abnormalities, caused by failed closure of neural tube during early embryonic development. Periconceptional folic acid (FA) supplementation greatly reduces the risk of NTDs. However, the molecular mechanisms behind NTDs and the preventive role of FA remain unclear. Here, we use human induced pluripotent stem cells (iPSCs) derived from fetuses with spina bifida aperta (SBA) to study the pathophysiology of NTDs and explore the effects of FA exposure. We report that FA exposure in SBA model is necessary for the proper formation and maturation of neural tube structures and robust differentiation of mesodermal derivatives...
February 13, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29423651/genetic-and-functional-analysis-of-shroom1-4-in-a-chinese-neural-tube-defect-cohort
#6
Zhongzhong Chen, Lele Kuang, Richard H Finnell, Hongyan Wang
Neural tube defects (NTDs), which include spina bifida and anencephaly, are the second most common form of human structural congenital malformations. While it is well established that SHROOM3 plays a pivotal role in the complex morphogenetic processes involved in neural tube closure (NTC), the underlying genetic contributions of SHROOM gene family members in the etiology of human NTDs remain poorly understood. Herein, we systematically investigated the mutation patterns of SHROOM1-4 in a Chinese population composed of 343 NTD cases and 206 controls, using targeted next-generation sequencing...
February 8, 2018: Human Genetics
https://www.readbyqxmd.com/read/29408391/single-injection-ex-ovo-transplantation-method-for-broad-spinal-cord-engraftment-of-human-pluripotent-stem-cell-derived-motor-neurons
#7
Maria C Estevez-Silva, Akshitha Sreeram, Stephanie Cuskey, Nikolai Fedorchak, Nisha Iyer, Randolph S Ashton
BACKGROUND: Transplantation of human pluripotent stem cell (hPSC)-derived neurons into chick embryos is an established preliminary assay to evaluate engraftment potential. Yet, with recent advances in deriving diverse human neuronal subtypes, optimizing and standardizing such transplantation methodology for specific subtypes at their correlated anatomical sites is still required. NEW METHOD: We determined the optimal stage of hPSC-derived motor neuron (hMN) differentiation for ex ovo transplantation, and developed a single injection protocol that implants hMNs throughout the spinal cord enabling broad regional engraftment possibilities...
February 3, 2018: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/29397878/neural-tube-closure-depends-on-expression-of-grainyhead-like-3-in-multiple-tissues
#8
Sandra C P De Castro, Caroline S Hirst, Dawn Savery, Ana Rolo, Heiko Lickert, Bogi Andersen, Andrew J Copp, Nicholas D E Greene
Failure of neural tube closure leads to neural tube defects (NTDs), common congenital abnormalities in humans. Among the genes whose loss of function causes NTDs in mice, Grainyhead-like3 (Grhl3) is essential for spinal neural tube closure, with null mutants exhibiting fully penetrant spina bifida. During spinal neurulation Grhl3 is initially expressed in the surface (non-neural) ectoderm, subsequently in the neuroepithelial component of the neural folds and at the node-streak border, and finally in the hindgut endoderm...
February 1, 2018: Developmental Biology
https://www.readbyqxmd.com/read/29392421/the-effect-of-magnetic-resonance-imaging-on-neural-tube-development-in-an-early-chicken-embryo-model
#9
Emrah Kantarcioglu, Gokmen Kahilogullari, Murat Zaimoglu, Esin Ozlem Atmis, Elif Peker, Zeynep Yigman, Deniz Billur, Sevim Aydin, Ilhan Memet Erden, Agahan Unlü
PURPOSE: We aimed to determine whether varying the magnetic field during magnetic resonance imaging would affect the development of chicken embryos and neural tube defects. METHODS: Following incubation for 24 h, we exposed chicken embryos to varying magnetic fields for 10 min to assess the impact on development. Three magnetic resonance imaging devices were used, and the eggs were divided into four groups: group 1 is exposed to 1 T, group 2 is exposed to 1.5 T, group 3 is exposed to 3 T, and group 4, control group, was not exposed to magnetic field...
February 1, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29365368/genetic-screening-and-functional-analysis-of-casp9-mutations-in-a-chinese-cohort-with-neural-tube-defects
#10
Xiao-Zhen Liu, Qin Zhang, Qian Jiang, Bao-Ling Bai, Xiao-Juan Du, Fang Wang, Li-Hua Wu, Xiao-Lin Lu, Yi-Hua Bao, Hui-Li Li, Ting Zhang
AIM: Neural tube defects (NTDs) are birth defects of the nervous system and are the second most frequent cause of birth defects worldwide. The etiology of NTDs is complicated and involves both genetic and environmental factors. CASP9 is an initiator caspase in the intrinsic apoptosis pathway, which in Casp9-/- mice has been shown to result in NTDs because of decreased apoptosis. The aim of this study was to evaluate the potential genetic contribution of the CASP9 gene in human NTDs. METHODS: High-throughput sequencing was performed to screen genetic variants of CASP9 genes in 355 NTD cases and 225 matched controls...
January 24, 2018: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/29360170/a-mendelian-form-of-neural-tube-defect-caused-by-a-de-novo-null-variant-in-smarcc1-in-an-identical-twin
#11
Fuad Al Mutairi, Fatema Alzahrani, Farouq Ababneh, Amna A Kashgari, Fowzan S Alkuraya
Neural tube defects (NTD) are among the most common birth defects in humans and yet their molecular etiology remains poorly understood. NTD are believed to result from the complex interaction of environmental factors with a multitude of genetic risk factors in a classical multifactorial disease model. Mendelian forms of NTD in which single variants are sufficient to cause the disease are extremely rare. We report a monozygotic twin with severe NTD (occipital encephalocele and myelomeningocele) and a shared de novo likely truncating variant in SMARCC1...
January 23, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29358613/key-apoptotic-genes-apaf1-and-casp9-implicated-in-recurrent-folate-resistant-neural-tube-defects
#12
Catherine J Spellicy, Joy Norris, Renee Bend, Caleb Bupp, Paul Mester, Tracy Reynolds, Jane Dean, Yunhui Peng, Emil Alexov, Charles E Schwartz, Roger S Stevenson, Michael J Friez
Neural tube defects (NTDs) remain one of the most serious birth defects, and although genes in several pathways have been implicated as risk factors for neural tube defects via knockout mouse models, very few molecular causes in humans have been identified. Whole exome sequencing identified deleterious variants in key apoptotic genes in two families with recurrent neural tube defects. Functional studies in fibroblasts indicate that these variants are loss-of-function, as apoptosis is significantly reduced. This is the first report of variants in apoptotic genes contributing to neural tube defect risk in humans...
January 22, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29346450/cloning-and-spatiotemporal-expression-of-xenopus-laevis-apolipoprotein-ci
#13
Jyotsna Sridharan, Tomomi Haremaki, Daniel C Weinstein
Apolipoprotein CI (ApoCI) belongs to the Apolipoprotein superfamily, members of which are involved in lipid transport, uptake and homeostasis. Excessive ApoCI has been implicated in atherosclerosis and Alzheimer's disease in humans. In this study we report the isolation of Xenopus laevis apoCI and describe the expression pattern of this gene during early development, using reverse transcription polymerase chain reaction and whole mount in situ hybridization. Xenopus apoCI is enriched in the dorsal ectoderm during gastrulation, and is subsequently expressed in sensory placodes, neural tube and cranial neural crest...
2018: PloS One
https://www.readbyqxmd.com/read/29340017/altered-gnas-imprinting-due-to-folic-acid-deficiency-contributes-to-poor-embryo-development-and-may-lead-to-neural-tube-defects
#14
Li Wang, Shaoyan Chang, Zhen Wang, Shan Wang, Junsheng Huo, Gangqiang Ding, Rui Li, Chi Liu, Shaofang Shangguan, Xiaolin Lu, Ting Zhang, Zhiyong Qiu, Jianxin Wu
Disturbed epigenetic modifications have been linked to the pathogenesis of Neural Tube Defects (NTDs) in those with folate deficiency during pregnancy. However, evidence is lacking to delineate the critical region in epigenome regulated by parental folic acid and mechanisms by which folate deficiency affects normal embryogenesis. Our data from clinical samples revealed the presence of aberrant DNA methylation in GNAS imprinting cluster in NTD samples with low folate concentrations. Results from mouse models indicated that the establishment of GNAS imprinting was influenced by both maternal and paternal folate-deficient diets...
December 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29338823/relationship-of-methylation-within-upper-stream-region-of-transcription-starts-site-of-hoxa5-gene-with-neural-tube-defects
#15
Ji Zhang, Tian Tian, De Qing Yi, Lin Lin Wang, Ai Guo Ren
Objective To investigate the relationship between the methylation level of transcription starts site (TSS) upper stream of homeobox gene and the neural tube defects (NTDs). Methods A case-control study of two stages was designed. In the first stage,10 cases and 8 controls were extracted,in whom Illumina Infinium Human Methylation 450 k genome-wide beadchip was used for the quantification of DNA methylation levels of brain and spinal tissue. In the second stage,differentially methylated region within HOXA5 gene was detected with a larger numbers of samples (52 cases and 23 controls)...
December 20, 2017: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
https://www.readbyqxmd.com/read/29309894/oxidative-stress-and-apoptosis-in-benzo-a-pyrene-induced-neural-tube-defects
#16
Shanshan Lin, Linlin Wang, Yun Huang, Yuanyuan Wang, Caiyun Wang, Nicholas D E Greene, Aiguo Ren
Neural tube defects (NTDs) are among the most common and severe congenital malformations and result from incomplete closure of the neural tube during early development. Maternal exposure to polycyclic aromatic hydrocarbons (PAHs) has been suggested to be a risk factor for NTDs and previous studies imply that the mechanism underlying the association between PAH exposure and NTDs may involve oxidative stress and apoptosis. The objectives of this study were to investigate whether there is a direct effect of maternal benzo[α] pyrene (BaP) exposure on the closure of the neural tube in mice, and to examine the underlying mechanisms by combining animal experiments and human subject studies...
January 5, 2018: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/29297599/genetic-contribution-of-retinoid-related-genes-to-neural-tube-defects
#17
Huili Li, Jing Zhang, Shuyuan Chen, Fang Wang, Ting Zhang, Lee Niswander
Rare variants are considered underlying causes of complex diseases. The complex and severe group of disorders called neural tube defects (NTDs) results from failure of the neural tube to close during early embryogenesis. Neural tube closure requires the coordination of numerous signaling pathways, including the precise regulation of retinoic acid (RA) concentration which is controlled by enzymes involved in RA synthesis and degradation. Here we used a case-control mutation screen study to reveal rare variants in retinoid related genes in a Han Chinese NTD population by sequencing six genes in 355 NTD cases and 225 controls...
January 3, 2018: Human Mutation
https://www.readbyqxmd.com/read/29285825/targeted-copy-number-screening-highlights-an-intragenic-deletion-of-wdr63-as-the-likely-cause-of-human-occipital-encephalocele-and-abnormal-cns-development-in-zebrafish
#18
Wolfgang Hofmeister, Maria Pettersson, Deniz Kurtoglu, Miriam Armenio, Jesper Eisfeldt, Nikos Papadogiannakis, Peter Gustavsson, Anna Lindstrand
Congenital malformations affecting the neural tube can present as isolated malformations or occur in association with other developmental abnormalities and syndromes. Using high resolution copy number screening in 66 fetuses with neural tube defects we identified 6 fetuses with likely pathogenic mutations, three aneuploidies (one trisomy 13 and two trisomy 18) and three deletions previously reported in NTDs (one 22q11.2 deletion and two 1p36 deletions) corresponding to 9% of the cohort. In addition, we identified five rare deletions and two duplications of uncertain significance including a rare intragenic heterozygous in-frame WDR63 deletion in a fetus with occipital encephalocele...
December 28, 2017: Human Mutation
https://www.readbyqxmd.com/read/29235100/embryonic-exposure-to-valproic-acid-affects-the-histaminergic-system-and-the-social-behavior-of-adult-zebrafish-danio-rerio
#19
Diego Baronio, Henri A J Puttonen, Maria Sundvik, Svetlana Semenova, Essi Lehtonen, Pertti Panula
BACKGROUND AND PURPOSE: Histamine modulates several behaviors and physiological functions and its deficiency is associated with neuropsychiatric disorders. Gestational intake of valproic acid (VPA) is linked to Autism Spectrum Disorder (ASD), which is characterized by impaired sociability and stereotypies. VPA effects on the neurochemistry and functional morphology of the histaminergic system in ASD are unclear. Zebrafish are highly social and given the similarities between zebrafish and human neurotransmitter systems, we decided to use zebrafish to study VPA effects on histamine...
December 12, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/29216556/influence-of-water-activity-and-temperature-on-growth-and-fumonisin-production-by-fusarium-proliferatum-strains-on-irradiated-wheat-grains
#20
Eugenia Cendoya, María Del Pilar Monge, Stella Maris Chiacchiera, María Cecilia Farnochi, María Laura Ramirez
Wheat is the most important cereal consumed by the Argentine population. In previous studies performed in durum and common wheat grains in this country it has been observed fumonisin contamination as well as high incidence of Fusarium proliferatum. Fumonisins are toxic fungal metabolites, and consumption of fumonisin-contaminated maize has been epidemiologically associated with oesophageal cancer and neural tube defects in some human populations. Using irradiated wheat-grains, the effects of abiotic factors, temperature (15, 25, and 30°C) and water activity (aW; 0...
December 4, 2017: International Journal of Food Microbiology
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