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https://www.readbyqxmd.com/read/28459463/mycn-induces-neuroblastoma-in-primary-neural-crest-cells
#1
R R Olsen, J H Otero, J García-López, K Wallace, D Finkelstein, J E Rehg, Z Yin, Y-D Wang, K W Freeman
Neuroblastoma (NBL) is an embryonal cancer of the sympathetic nervous system (SNS), which causes 15% of pediatric cancer deaths. High-risk NBL is characterized by N-Myc amplification and segmental chromosomal gains and losses. Owing to limited disease models, the etiology of NBL is largely unknown, including both the cell of origin and the majority of oncogenic drivers. We have established a novel system for studying NBL based on the transformation of neural crest cells (NCCs), the progenitor cells of the SNS, isolated from mouse embryonic day 9...
May 1, 2017: Oncogene
https://www.readbyqxmd.com/read/28459369/grainyhead-like-2-in-development-and-cancer
#2
Lijun Ma, Hongli Yan, Hui Zhao, Jianmin Sun
Grainyhead-like 2 is a human homolog of Drosophila grainyhead. It inhibits epithelial-to-mesenchymal transition that is necessary for cell migration, and it is involved in neural tube closure, epithelial morphogenesis, and barrier formation during embryogenesis by regulation of the expression of cell junction proteins such as E-cadherin and vimentin. Cancer shares many common characters with development such as epithelial-to-mesenchymal transition. In addition to its important role in development, grainyhead-like 2 is implicated in carcinogenesis as well...
May 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/28438991/differentiation-of-v2a-interneurons-from-human-pluripotent-stem-cells
#3
Jessica C Butts, Dylan A McCreedy, Jorge Alexis Martinez-Vargas, Frederico N Mendoza-Camacho, Tracy A Hookway, Casey A Gifford, Praveen Taneja, Linda Noble-Haeusslein, Todd C McDevitt
The spinal cord consists of multiple neuronal cell types that are critical to motor control and arise from distinct progenitor domains in the developing neural tube. Excitatory V2a interneurons in particular are an integral component of central pattern generators that control respiration and locomotion; however, the lack of a robust source of human V2a interneurons limits the ability to molecularly profile these cells and examine their therapeutic potential to treat spinal cord injury (SCI). Here, we report the directed differentiation of CHX10(+) V2a interneurons from human pluripotent stem cells (hPSCs)...
April 24, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28434941/dysregulation-of-the-sirt1-oct6-axis-contributes-to-environmental-stress-induced-neural-induction-defects
#4
Guoping Li, Zeyidan Jiapaer, Rong Weng, Yi Hui, Wenwen Jia, Jiajie Xi, Guiying Wang, Songcheng Zhu, Xin Zhang, Dandan Feng, Ling Liu, Xiaoqing Zhang, Jiuhong Kang
Environmental stresses are increasingly acknowledged as core causes of abnormal neural induction leading to neural tube defects (NTDs). However, the mechanism responsible for environmental stress-triggered neural induction defects remains unknown. Here, we report that a spectrum of environmental stresses, including oxidative stress, starvation, and DNA damage, profoundly activate SIRT1, an NAD(+)-dependent lysine deacetylase. Both mouse embryos and in vitro differentiated embryonic stem cells (ESCs) demonstrated a negative correlation between the expression of SIRT1 and that of OCT6, a key neural fate inducer...
May 9, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28415531/new-synthesis-of-poly-ortho-methoxyaniline-nanostructures-and-its-application-to-construct-modified-multi-wall-carbon-nanotube-graphite-paste-electrode-for-simultaneous-determination-of-uric-acid-and-folic-acid
#5
Hossein Rajabi, Meissam Noroozifar
Uric acid (UA) and folic acid (FA) are compounds of biomedical interest. In humans, about 70% of daily uric acid disposal occurs via the kidneys, and in 5-25% of humans, impaired renal (kidney) excretion leads to hyperuricemia. Folate is another form folic acid of which is known as, is one of the B vitamins. It is used as a supplement by women to prevent neural tube defects developing during pregnancy. Polyortho-methoxyaniline nanostructures (POMANS) was synthesized with a new two phase (organic-water) synthesis method...
June 1, 2017: Materials Science & Engineering. C, Materials for Biological Applications
https://www.readbyqxmd.com/read/28400561/a-hybrid-stochastic-model-of-folate-mediated-one-carbon-metabolism-effect-of-the-common-c677t-mthfr-variant-on-de-novo-thymidylate-biosynthesis
#6
Karla Misselbeck, Luca Marchetti, Martha S Field, Marco Scotti, Corrado Priami, Patrick J Stover
Folate-mediated one-carbon metabolism (FOCM) is an interconnected network of metabolic pathways, including those required for the de novo synthesis of dTMP and purine nucleotides and for remethylation of homocysteine to methionine. Mouse models of folate-responsive neural tube defects (NTDs) indicate that impaired de novo thymidylate (dTMP) synthesis through changes in SHMT expression is causative in folate-responsive NTDs. We have created a hybrid computational model comprised of ordinary differential equations and stochastic simulation...
April 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28387569/associations-between-post-translational-histone-modifications-myelomeningocele-risk-environmental-arsenic-exposure-and-folate-deficiency-among-participants-in-a-case-control-study-in-bangladesh
#7
Jannah Tauheed, Marco Sanchez-Guerra, Jane J Lee, Ligi Paul, Md Omar Sharif Ibne Hasan, Quazi Quamruzzaman, Jacob Selhub, Robert O Wright, David C Christiani, Brent A Coull, Andrea A Baccarelli, Maitreyi Mazumdar
Arsenic exposure may contribute to disease risk in humans through alterations in the epigenome. Previous studies reported that arsenic exposure is associated with changes in plasma histone concentrations. Posttranslational histone modifications have been found to differ between the brain tissue of human embryos with neural tube defects and that of controls. Our objectives were to investigate the relationships between plasma histone 3 levels, history of having an infant with myelomeningocele, biomarkers of arsenic exposure, and maternal folate deficiency...
April 7, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28379358/loss-of-dynein-2-intermediate-chain-wdr34-results-in-defects-in-retrograde-ciliary-protein-trafficking-and-hedgehog-signaling-in-the-mouse
#8
Chuanqing Wu, Jia Li, Andrew Peterson, Kaixiong Tao, Baolin Wang
The Wdr34 gene encodes an intermediate chain of cytoplasmic dynein 2, the motor for retrograde intraflagellar transport (IFT) in primary cilia. Although mutations in human WDR34 have recently been reported, the association of WDR34 function with Hedgehog (Hh) signaling has not been established, and actual cilia defects in the WDR34 mutant cells have also not been completely characterized. In the present study, we show that Wdr34 mutant mice die in midgestation and exhibit open brain and polydactyly phenotypes...
March 31, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28369449/scribble1-plays-an-important-role-in-the-pathogenesis-of-neural-tube-defects-through-its-mediating-effect-of-par-3-and-vangl1-2-localization
#9
Fares Kharfallah, Marie Claude Guyot, Abdul Rahman El Hassan, Redouane Allache, Elisa Merello, Patrizia De Marco, Graziella Di Cristo, Valeria Capra, Zoha Kibar
Scribble1 (Scrib1) is a tumor suppressor gene that has long been established as an essential component of apicobasal polarity (ABP). In mouse models, mutations in Scrib1 cause a severe form of neural tube defects (NTDs) as a result of a defective planar cell polarity (PCP) signaling. In this study, we dissected the role of Scrib1 in the pathogenesis of NTDs in its mouse mutant Circletail (Crc), in cell lines and in a human NTD cohort. While there were no obvious defects in ABP in the Scrib1Crc/Crc neuroepihelial cells, we identified an abnormal localization of the apical protein Par-3 and of the PCP protein Vangl2...
March 28, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28361306/generation-of-various-telencephalic-regions-from-human-embryonic-stem-cells-in-three-dimensional-culture
#10
Taisuke Kadoshima, Hideya Sakaguchi, Mototsugu Eiraku
In the developing embryo, telencephalon arises from the rostral portion of the neural tube. The telencephalon further subdivides into distinct brain regions along the dorsal-ventral (DV) axis by exogenous patterning signals. Here, we describe a protocol for in vitro generation of various telencephalic regions from human embryonic stem cells (ESCs). Dissociated human ESCs are reaggregated in a low-cell-adhesion 96-well plate and cultured as floating aggregates. Telencephalic neural progenitors are efficiently generated when ESC aggregates are cultured in serum-free medium containing TGFβ inhibitor and Wnt inhibitor...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28334810/bimodal-regulation-of-dishevelled-function-by-vangl2-during-morphogenesis
#11
Hwa-Seon Seo, Raymond Habas, Chenbei Chang, Jianbo Wang
Convergent extension (CE) is a fundamental morphogenetic mechanism that underlies numerous processes in vertebrate development, and its disruption can lead to human congenital disorders such as neural tube closure defects. The dynamic, oriented cell intercalation during CE is regulated by a group of core proteins identified originally in flies to coordinate epithelial planar cell polarity (PCP). The existing model explains how core PCP proteins, including Van Gogh (Vang) and Dishevelled (Dvl), segregate into distinct complexes on opposing cell cortex to coordinate polarity among static epithelial cells...
June 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28286691/spina-bifida-pathogenesis-mechanisms-and-genes-in-mice-and-humans
#12
REVIEW
Siti W Mohd-Zin, Ahmed I Marwan, Mohamad K Abou Chaar, Azlina Ahmad-Annuar, Noraishah M Abdul-Aziz
Spina bifida is among the phenotypes of the larger condition known as neural tube defects (NTDs). It is the most common central nervous system malformation compatible with life and the second leading cause of birth defects after congenital heart defects. In this review paper, we define spina bifida and discuss the phenotypes seen in humans as described by both surgeons and embryologists in order to compare and ultimately contrast it to the leading animal model, the mouse. Our understanding of spina bifida is currently limited to the observations we make in mouse models, which reflect complete or targeted knockouts of genes, which perturb the whole gene(s) without taking into account the issue of haploinsufficiency, which is most prominent in the human spina bifida condition...
2017: Scientifica
https://www.readbyqxmd.com/read/28276201/rare-deleterious-variants-in-grhl3-are-associated-with-human-spina-bifida
#13
Philippe Lemay, Patrizia De Marco, Alexandre Emond, Dan Spiegelman, Alexandre Dionne-Laporte, Sandra Laurent, Elisa Merello, Andrea Accogli, Guy A Rouleau, Valeria Capra, Zoha Kibar
Neural tube defects, including spina bifida, are among the most common birth defects caused by failure of neural tube closure during development. They have a complex etiology involving largely undetermined environmental and genetic factors. Previous studies in mouse models have implicated the transcription factor Grhl3 as an important factor in the pathogenesis of spina bifida. In the present study, we conducted a resequencing analysis of GRHL3 in a cohort of 233 familial and sporadic cases of spina bifida...
June 2017: Human Mutation
https://www.readbyqxmd.com/read/28266009/a-detailed-musculoskeletal-study-of-a-fetus-with-anencephaly-and-spina-bifida-craniorachischisis-and-comparison-with-other-cases-of-human-congenital-malformations
#14
Malak A Alghamdi, Janine M Ziermann, Lydia Gregg, Rui Diogo
Few descriptions of the musculoskeletal system of humans with anencephaly or spina bifida exist in the literature. Even less is published about individuals in which both phenomena occur together, i.e. about craniorachischisis. Here we provide a detailed report on the musculoskeletal structures of a fetus with craniorachischisis, as well as comparisons with the few descriptions for anencephaly and with musculoskeletal anomalies found in other congenital malformations. We focused in particular on the comparison with trisomies 13, 18, and 21 because neural tube defects have been associated with such chromosomal defects...
March 7, 2017: Journal of Anatomy
https://www.readbyqxmd.com/read/28261784/fatal-folic-acid-toxicity-in-humans
#15
Gerard Pradeep Devnath, Senthil Kumaran, R Rajiv, Kusa Kumar Shaha, Ashok Nagaraj
Folic acid is B-9 vitamin. Folic acid is prescribed commonly for pregnant women to prevent neural tube defects in the fetus, patients under chemotherapy, pernicious anemia and to reduce the risk of stroke and cardiovascular disease. Acute or chronic ingestion of a large dose of folic acid generally manifests as neurological complications, which are reversible. In this present case, a 23-year-old pregnant woman committed suicide by consuming folic acid tablets and succumbed to death within 36 h. Postmortem toxicological analysis detected folic acid in viscera...
March 6, 2017: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/28244241/folate-receptors-and-neural-tube-closure
#16
REVIEW
Hirotomo Saitsu
Neural tube defects (NTD) are among the most common human congenital malformations, affecting 0.5-8.0/1000 of live births. Human clinical trials have shown that periconceptional folate supplementation significantly decreases the occurrence of NTD in offspring. However, the mechanism by which folate acts on NTD remains largely unknown. Folate receptor (Folr) is one of the three membrane proteins that mediate cellular uptake of folates. Recent studies suggest that mouse Folr1 (formerly referred to as Fbp1) is essential for neural tube closure...
February 28, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28243254/myoinositol-the-bridge-ponti-to-reach-a-healthy-pregnancy
#17
REVIEW
Pietro Cavalli, Elena Ronda
The use of folic acid in the periconceptional period can prevent about 70% of neural tube defects (NTDs). In the remaining cases, no medical prevention is available, and those conditions should be defined as folate-resistant NTDs. Rodent models suggest that some folate-resistant NTDs can be prevented by inositol (myoinositol and chiroinositol) supplementation prior to pregnancy. Should folic acid be combined with myoinositol periconceptional supplementation to reduce the overall risk of NTDs even in humans? Hereafter, we discuss the results from the PONTI study that strongly support both the effectiveness and safety of myoinositol periconceptional supplementation in preventing human NTDs...
2017: International Journal of Endocrinology
https://www.readbyqxmd.com/read/28221941/the-hap-complex-governs-fumonisin-biosynthesis-and-maize-kernel-pathogenesis-in-fusarium-verticillioides
#18
John B Ridenour, Jonathon E Smith, Burton H Bluhm
Contamination of maize ( Zea mays ) with fumonisins produced by the fungus Fusarium verticillioides is a global concern for food safety. Fumonisins are a group of polyketide-derived secondary metabolites linked to esophageal cancer and neural tube birth defects in humans and numerous toxicoses in livestock. Despite the importance of fumonisins in global maize production, the regulation of fumonisin biosynthesis during kernel pathogenesis is poorly understood. The HAP complex is a conserved, heterotrimeric transcriptional regulator that binds the consensus sequence CCAAT to modulate gene expression...
September 2016: Journal of Food Protection
https://www.readbyqxmd.com/read/28208798/maternal%C3%A2-folic%C3%A2-acid%C3%A2-supplementation%C3%A2-during%C3%A2-pregnancy%C3%A2-and%C3%A2-childhood%C3%A2-allergic%C3%A2-disease%C3%A2-outcomes-%C3%A2-a%C3%A2-question%C3%A2-of%C3%A2-timing
#19
REVIEW
Catrina L McStay, Susan L Prescott, Carol Bower, Debra J Palmer
Since the early 1990s, maternal folic acid supplementation has been recommended prior  to and during the first trimester of pregnancy, to reduce the risk of infant neural tube defects. In  addition, many countries have also implemented the folic acid fortification of staple foods, in order  to promote sufficient intakes amongst women of a childbearing age, based on concerns surrounding  variable dietary and supplementation practices. As many women continue to take folic acid  supplements beyond the recommended first trimester, there has been an overall increase in folate  intakes, particularly in countries with mandatory fortification...
February 9, 2017: Nutrients
https://www.readbyqxmd.com/read/28197104/angled-growth-of-the-dental-lamina-is-accompanied-by-asymmetrical-expression-of-the-wnt-pathway-receptor-frizzled-6
#20
Iveta Putnová, Hana Dosedělová, Vitezslav Bryja, Marie Landová, Marcela Buchtová, Jan Štembírek
Frizzled 6 (FZD6) belongs to a family of proteins that serve as receptors in the WNT signaling pathway. FZD6 plays an important role in the establishment of planar cell polarity in many embryonic processes such as convergent extension during gastrulation, neural tube closure, or hair patterning. Based on its role during hair development, we hypothesized that FZD6 may have similar expression pattern and function in the dental lamina, which is also a distinct epithelial protrusion growing characteristically angled into the mesenchyme...
2017: Frontiers in Physiology
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