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https://www.readbyqxmd.com/read/28801591/new-variant-and-expression-studies-provide-further-insight-into-the-genotype-phenotype-correlation-in-yap1-related-developmental-eye-disorders
#1
R Holt, F Ceroni, D A Bax, S Broadgate, D Gold Diaz, C Santos, D Gerrelli, N K Ragge
YAP1, which encodes the Yes-associated protein 1, is part of the Hippo pathway involved in development, growth, repair and homeostasis. Nonsense YAP1 mutations have been shown to co-segregate with autosomal dominantly inherited coloboma. Therefore, we screened YAP1 for variants in a cohort of 258 undiagnosed UK patients with developmental eye disorders, including anophthalmia, microphthalmia and coloboma. We identified a novel 1 bp deletion in YAP1 in a boy with bilateral microphthalmia and bilateral chorioretinal coloboma...
August 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28800946/three-tctn-proteins-are-functionally-conserved-in-the-regulation-of-neural-tube-patterning-and-gli3-processing-but-not-ciliogenesis-and-hedgehog-signaling-in-the-mouse
#2
Chengbing Wang, Jia Li, Qing Meng, Baolin Wang
Tctn1, Tctn2, and Tctn3 are membrane proteins that localize at the transition zone of primary cilia. Tctn1 and Tctn2 mutations have been reported in both humans and mice, but Tctn3 mutations have been reported only in humans. It is also not clear whether the three Tctn proteins are functionally conserved with respect to ciliogenesis and Hedgehog (Hh) signaling. In the present study, we report that loss of Tctn3 gene function in mice results in a decrease in ciliogenesis and Hh signaling. Consistent with this, Tctn3 mutant mice exhibit holoprosencephaly and randomized heart looping and lack the floor plate in the neural tube, the phenotypes similar to those of Tctn1 and Tctn2 mutants...
August 8, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28795440/single-site-neural-tube-closure-in-human-embryos-revisited
#3
Bernadette S de Bakker, Stan Driessen, Bastiaan Jd Boukens, Maurice Jh van den Hoff, Roelof-Jan Oostra
Introduction Since the multi-site closure theory was first proposed in 1991 as explanation for the preferential localizations of neural tube defects, the closure of the neural tube has been debated. Although the multi-site closure theory is much cited in clinical literature, single-site closure is most apparent in literature concerning embryology. Inspired by Victor Hamburgers (1900-2001) statement that "our real teacher has been and still is the embryo, who is, incidentally, the only teacher who is always right", we decided to critically review both theories of neural tube closure...
August 10, 2017: Clinical Anatomy
https://www.readbyqxmd.com/read/28793267/epigenomic-landscapes-of-hesc-derived-neural-rosettes-modeling-neural-tube-formation-and-diseases
#4
Cristina Valensisi, Colin Andrus, Sam Buckberry, Naresh Doni Jayavelu, Riikka J Lund, Ryan Lister, R David Hawkins
We currently lack a comprehensive understanding of the mechanisms underlying neural tube formation and their contributions to neural tube defects (NTDs). Developing a model to study such a complex morphogenetic process, especially one that models human-specific aspects, is critical. Three-dimensional, human embryonic stem cell (hESC)-derived neural rosettes (NRs) provide a powerful resource for in vitro modeling of human neural tube formation. Epigenomic maps reveal enhancer elements unique to NRs relative to 2D systems...
August 8, 2017: Cell Reports
https://www.readbyqxmd.com/read/28721594/exome-analysis-in-an-estonian-multiplex-family-with-neural-tube-defects-a-case-report
#5
Liina Pappa, Mart Kals, Paula Ann Kivistik, Andres Metspalu, Ann Paal, Tiit Nikopensius
INTRODUCTION: Neural tube defects (NTDs) are a group of common and severe congenital birth defects that occur during early embryonic development due to incomplete closure of the neural tube. The genetic architecture of human NTDs, including spina bifida and hydrocephalus, is highly heterogeneous, with multiple genes/loci and both gene-gene and gene-environment interactions involved. Hence, the variation in outcomes also most likely relates to a combination of the severity of different variants in multiple genes and genetic modifiers affecting the biochemical traits...
July 18, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28695418/csf-based-analysis-for-identification-of-potential-serum-biomarkers-of-neural-tube-defects
#6
Xinyu Yan, Lixin Mai, Changchun Lin, Wenji He, Gengsheng Yin, Jiakang Yu, Lian Huang, Sanqiang Pan
The protein composition of cerebrospinal fluid (CSF) in neural tube defects (NTDs) remains unknown. We investigated the protein composition of CSF from 9 infants with NTDs using isobaric tags for relative and absolute quantitation (iTRAQ). We identified 568 proteins in the CSF of infants with spina bifida, which is the most common type of NTD. Among these, 18 proteins were associated with neural tube closure in the CSF during human embryonic neurulation and 5 were involved in NTDs. Based on these results, an animal model was further utilized to investigate early serum biomarkers for NTDs...
August 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28686331/neural-tube-defects-in-waardenburg-syndrome-a-case-report-and-review-of-the-literature
#7
Joseph Hart, Kalpana Miriyala
Waardenburg syndrome type 1 (WS1) is an autosomal dominant genetic condition characterized by sensorineural deafness and pigment abnormalities, and is caused by variants in the PAX3 homeodomain. PAX3 variants have been associated with severe neural tube defects in mice and humans, but the frequency and clinical manifestations of this symptom remain largely unexplored in humans. Consequently, the role of PAX3 in human neural tube formation remains a study of interest, for clinical as well as research purposes...
July 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28631291/folate-deficiency-disturbs-hsa-let-7-g-level-through-methylation-regulation-in-neural-tube-defects
#8
Li Wang, Shaofang Shangguan, Yu Xin, Shaoyan Chang, Zhen Wang, Xiaolin Lu, Lihua Wu, Bo Niu, Ting Zhang
Folic acid deficiency during pregnancy is believed to be a high-risk factor for neural tube defects (NTDs). Disturbed epigenetic modifications, including miRNA regulation, have been linked to the pathogenesis of NTDs in those with folate deficiency. However, the mechanism by which folic acid-regulated miRNA influences this pathogenesis remains unclear. It is believed that DNA methylation is associated with dysregulated miRNA expression. To clarify this issue, here we measured the methylation changes of 22 miRNAs in 57 human NTD cases to explore whether such changes are involved in miRNA regulation in NTD cases through folate metabolism...
June 19, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28623428/quantitative-measurement-of-pard3-copy-number-variations-in-human-neural-tube-defects
#9
Yonghui Gao, Jianhua Wang, Shaofang Shangguan, Yihua Bao, Xiaoli Lu, Jizhen Zou, Yaohua Dai, Junling Liu, Ting Zhang
Although more than 200 genes are known to be related to neural tube defects (NTDs), the exact molecular basis is still unclear. Evaluating the contribution of copy number variation (CNV) might be a priority because CNV involves changes in the copy number of large segments of DNA, leading to phenotypic traits and disease susceptibility. Recent studies have documented that the polarity protein partitioning defective 3 homolog (Pard3) plays an essential role in the process of neural tube closure. The aim of this study was to assess the role of PARD3 CNVs in the etiology of human NTDs...
June 16, 2017: Cellular and Molecular Neurobiology
https://www.readbyqxmd.com/read/28618200/ambient-and-dosed-exposure-to-quaternary-ammonium-disinfectants-causes-neural-tube-defects-in-rodents
#10
Terry C Hrubec, Vanessa E Melin, Caroline S Shea, Elizabeth E Ferguson, Craig Garofola, Claire M Repine, Tyler W Chapman, Hiral R Patel, Reza M Razvi, Jesse E Sugrue, Haritha Potineni, Geraldine Magnin-Bissel, Patricia A Hunt
BACKGROUND: Quaternary ammonium compounds are a large class of chemicals used for their antimicrobial and antistatic properties. Two common quaternary ammonium compounds, alkyldimethylbenzyl ammonium chloride (ADBAC) and didecyldimethyl ammonium chloride (DDAC), are combined in common cleaners and disinfectants. Introduction of a cleaner containing ADBAC+DDAC in the vivarium caused neural tube defects (NTDs) in mice and rats. METHODS: To further evaluate this finding, male and female mice were dosed in the feed at 60 or 120 mg/kg/day, or by oral gavage at 7...
August 15, 2017: Birth defects research
https://www.readbyqxmd.com/read/28607062/biomechanical-coupling-facilitates-spinal-neural-tube-closure-in-mouse-embryos
#11
Gabriel L Galea, Young-June Cho, Gauden Galea, Matteo A Molè, Ana Rolo, Dawn Savery, Dale Moulding, Lucy H Culshaw, Evanthia Nikolopoulou, Nicholas D E Greene, Andrew J Copp
Neural tube (NT) formation in the spinal region of the mammalian embryo involves a wave of "zippering" that passes down the elongating spinal axis, uniting the neural fold tips in the dorsal midline. Failure of this closure process leads to open spina bifida, a common cause of severe neurologic disability in humans. Here, we combined a tissue-level strain-mapping workflow with laser ablation of live-imaged mouse embryos to investigate the biomechanics of mammalian spinal closure. Ablation of the zippering point at the embryonic dorsal midline causes far-reaching, rapid separation of the elevating neural folds...
June 27, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28592519/mechanistic-target-of-rapamycin-is-a-novel-molecular-mechanism-linking-folate-availability-and-cell-function
#12
REVIEW
Elena Silva, Fredrick J Rosario, Theresa L Powell, Thomas Jansson
Folate deficiency has been linked to a wide range of disorders, including cancer, neural tube defects, and fetal growth restriction. Folate regulates cellular function mediated by its involvement in the synthesis of nucleotides, which are needed for DNA synthesis, and its function as a methyl donor, which is critical for DNA methylation. Here we review current data showing that folate sensing by mechanistic target of rapamycin (mTOR) constitutes a novel and distinct pathway by which folate modulates cell functions such as nutrient transport, protein synthesis, and mitochondrial respiration...
July 2017: Journal of Nutrition
https://www.readbyqxmd.com/read/28588742/folate-deficiency-as-predisposing-factor-for-childhood-leukaemia-a-review-of-the-literature
#13
REVIEW
Catia Daniela Cantarella, Denise Ragusa, Marco Giammanco, Sabrina Tosi
BACKGROUND: Folic acid and its derivates, known as folates, are chemoprotective micronutrients of great interest because of their essential role in the maintenance of health and genomic integrity. The supplementation of folic acid during pregnancy has long been known to reduce the risk of neural tube defects (NTDs) in the foetus. Folate metabolism can be altered by many factors, including adequate intake through diet. Folate deficiency can compromise the synthesis, repair and methylation of DNA, with deleterious consequences on genomic stability and gene expression...
2017: Genes & Nutrition
https://www.readbyqxmd.com/read/28547654/potential-teratogenic-effects-of-clomiphene-citrate
#14
REVIEW
Alessandra Scaparrotta, Francesco Chiarelli, Alberto Verrotti
Clomiphene citrate (CC) is the oldest drug used to regulate the process of ovulation. Considering the great use of CC over the last 40 years, it is important to understand the possible risks associated with its use. The aim of this review was to evaluate the possible teratogenic effects of CC, analyzing results obtained from animal and human studies. The pharmacokinetics of CC and possible mechanisms involved in teratogenesis are examined. Fetal exposure to CC is possible due to the long half-life of CC and its metabolites...
May 25, 2017: Drug Safety: An International Journal of Medical Toxicology and Drug Experience
https://www.readbyqxmd.com/read/28538662/maternal-factors-that-induce-epigenetic-changes-contribute-to-neurological-disorders-in-offspring
#15
REVIEW
Avijit Banik, Deepika Kandilya, Seshadri Ramya, Walter Stünkel, Yap Seng Chong, S Thameem Dheen
It is well established that the regulation of epigenetic factors, including chromatic reorganization, histone modifications, DNA methylation, and miRNA regulation, is critical for the normal development and functioning of the human brain. There are a number of maternal factors influencing epigenetic pathways such as lifestyle, including diet, alcohol consumption, and smoking, as well as age and infections (viral or bacterial). Genetic and metabolic alterations such as obesity, gestational diabetes mellitus (GDM), and thyroidism alter epigenetic mechanisms, thereby contributing to neurodevelopmental disorders (NDs) such as embryonic neural tube defects (NTDs), autism, Down's syndrome, Rett syndrome, and later onset of neuropsychological deficits...
May 24, 2017: Genes
https://www.readbyqxmd.com/read/28459463/mycn-induces-neuroblastoma-in-primary-neural-crest-cells
#16
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
#17
REVIEW
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
#18
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)...
May 9, 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
#19
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
#20
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
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