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https://www.readbyqxmd.com/read/29618362/genetic-analysis-of-wnt-pcp-genes-in-neural-tube-defects
#1
Zhongzhong Chen, Yunping Lei, Xuanye Cao, Yufang Zheng, Fang Wang, Yihua Bao, Rui Peng, Richard H Finnell, Ting Zhang, Hongyan Wang
BACKGROUND: Mouse homozygous mutants in Wnt/planar cell polarity (PCP) pathway genes have been shown to cause neural tube defects (NTDs) through the disruption of normal morphogenetic processes critical to neural tube closure (NTC). Knockout mice that are heterozygotes of single PCP genes likely fail to produce NTD phenotypes, yet damaging variants detected in human NTDs are almost always heterozygous, suggesting that other deleterious interacting variants are likely to be present. Nonetheless, the Wnt/PCP pathway remains a genetic hotspot...
April 4, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29615496/crispr-cas9-mediated-genomic-editing-of-cluap1-ift38-reveals-a-new-role-in-actin-arrangement
#2
Tina Beyer, Sylvia Bolz, Katrin Junger, Nicola Horn, Muhammad Moniruzzaman, Yasmin Wissinger, Marius Ueffing, Karsten Boldt
CRISPR/Cas9-mediated gene editing allows manipulation of a gene of interest in its own chromosomal context. When applied to the analysis of protein interactions, and in contrast to exogenous expression of a protein, this can be studied maintaining physiological stoichiometry, topology and context. We have used CRISPR/Cas9-mediated genomic editing to investigate Cluap1/ IFT38, a component of the intraflagellar transport complex B (IFT-B). Cluap1 has been implicated in human development as well as in cancer progression...
April 3, 2018: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/29596925/association-of-pesticide-exposure-with-human-congenital-abnormalities
#3
REVIEW
Charikleia Kalliora, Charalampos Mamoulakis, Eleni Vasilopoulos, George A Stamatiades, Lydia Kalafati, Roza Barouni, Triantafyllia Karakousi, Mohammad Abdollahi, Aristidis Tsatsakis
Human pesticide exposure can occur both occupationally and environmentally during manufacture and after the application of indoor and outdoor pesticides, as well as through consumption via residues in food and water. There is evidence from experimental studies that numerous pesticides, either in isolation or in combination, act as endocrine disruptors, neurodevelopmental toxicants, immunotoxicants, and carcinogens. We reviewed the international literature on this subject for the years between 1990 and 2017...
March 26, 2018: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/29590636/vangl2-disruption-alters-the-biomechanics-of-late-spinal-neurulation-leading-to-spina-bifida-in-mouse-embryos
#4
Gabriel L Galea, Oleksandr Nychyk, Matteo A Mole, Dale Moulding, Dawn Savery, Evanthia Nikolopoulou, Deborah J Henderson, Nicholas D E Greene, Andrew J Copp
Human mutations in the planar cell polarity component VANGL2 are associated with the neural tube defect spina bifida. Homozygous Vangl2 mutation in mice prevents initiation of neural tube closure, precluding analysis of its subsequent roles in neurulation. Spinal neurulation involves rostral-to-caudal 'zippering' until completion of closure is imminent, when a caudal-to-rostral closure point, 'Closure 5', arises at the caudal-most extremity of the posterior neuropore (PNP). Here, we used Grhl3Cre to delete Vangl2 in the surface ectoderm (SE) throughout neurulation and in an increasing proportion of PNP neuroepithelial cells at late neurulation stages...
March 21, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29574166/stem-cells-from-apical-papilla-promote-differentiation-of-human-pluripotent-stem-cells-towards-retinal-cells
#5
Fereshteh Karamali, Mohammad-Hossein Nasr Esfahani, Sara Taleahmad, Leila Satarian, Hossein Baharvand
Recently, we have found that human stem cells from apical papilla (SCAP) show a stromal cell-derived inducing activity (SDIA). To examine SDIA competence for retinal cells differentiation, we co-cultured SCAP with human pluripotent stem cells (hPSCs). In comparison with Matrigel-cultured hPSCs, SCAP significantly induces hPSCs to differentiate into rostral neural cells as demonstrated by upregulation of OTX2 and PAX6 and down-regulation of EN1, HOXB4 and HOXC8. Furthermore, the differentiated cells on SCAP significantly expressed eye-field markers, RAX, PAX6, LHX2 and SIX3 and showed five folds pigmented colonies...
March 2, 2018: Differentiation; Research in Biological Diversity
https://www.readbyqxmd.com/read/29573971/digenic-variants-of-planar-cell-polarity-genes-in-human-neural-tube-defect-patients
#6
Linlin Wang, Yanhui Xiao, Tian Tian, Lei Jin, Yunping Lei, Richard H Finnell, Aiguo Ren
Neural tube defects (NTDs) are considered to be a complex genetic disorder, although the identity of the genetic factors remains largely unknown. Mouse model studies suggest a multifactorial oligogenic pattern of inheritance for NTDs, yet evidence from published human studies is surprisingly absent. In the present study, targeted next-generation sequencing was performed to screen for DNA variants in the entire coding regions and intron-exon boundaries of targeted genes using DNA samples from 510 NTD cases. These candidate genes were PCP genes, including VANGL1, VANGL2, CELSR1, SCRIB, DVL2, DVL3 and PTK7...
March 18, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29567070/identification-of-duplicated-midkine-genes-and-their-functional-regulation-in-blunt-snout-bream-megalobrama-amblycephala
#7
Dan-Dan Guo, Guo-Dong Zheng, Shang-Ke Du, Bo Qin, Xia-Yun Jiang, Shu-Ming Zou
Midkine (Mdk) is a heparin-binding growth factor that is involved in regulating cell growth, differentiation and migration. Here, we report the isolation and characterization of duplicated mdk genes in blunt snout bream (Megalobrama amblycephala). The mdka and -b genes encode 146 aa and 147 aa peptides, respectively, sharing a sequence identity of 64%. During embryogenesis, mdka mRNA is detectable after 12 h post-fertilization (hpf) and mdkb mRNA can be detected after 8 hpf, about 4 h prior to mdka mRNA...
March 19, 2018: Comparative Biochemistry and Physiology. Part B, Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/29555813/recapitulating-early-development-of-mouse-musculoskeletal-precursors-of-the-paraxial-mesoderm-in-vitro
#8
Jérome Chal, Ziad Al Tanoury, Masayuki Oginuma, Philippe Moncuquet, Bénédicte Gobert, Ayako Miyanari, Olivier Tassy, Getzabel Guevara, Alexis Hubaud, Agata Bera, Olga Sumara, Jean-Marie Garnier, Leif Kennedy, Marie Knockaert, Barbara Gayraud-Morel, Shahragim Tajbakhsh, Olivier Pourquié
Body skeletal muscles derive from the paraxial mesoderm, which forms in the posterior region of the embryo. Using microarrays, we characterize novel mouse presomitic mesoderm (PSM) markers and show that, unlike the abrupt transcriptome reorganization of the PSM, neural tube differentiation is accompanied by progressive transcriptome changes. The early paraxial mesoderm differentiation stages can be efficiently recapitulated in vitro using mouse and human pluripotent stem cells. While Wnt activation alone can induce posterior PSM markers, acquisition of a committed PSM fate and efficient differentiation into anterior PSM Pax3+ identity further requires BMP inhibition to prevent progenitors from drifting to a lateral plate mesoderm fate...
March 19, 2018: Development
https://www.readbyqxmd.com/read/29544899/design-and-validation-of-an-ontology-driven-animal-free-testing-strategy-for-developmental-neurotoxicity-testing
#9
Ellen V S Hessel, Yvonne C M Staal, Aldert H Piersma
Developmental neurotoxicity entails one of the most complex areas in toxicology. Animal studies provide only limited information as to human relevance. A multitude of alternative models have been developed over the years, providing insights into mechanisms of action. We give an overview of fundamental processes in neural tube formation, brain development and neural specification, aiming at illustrating complexity rather than comprehensiveness. We also give a flavor of the wealth of alternative methods in this area...
March 12, 2018: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/29533898/yotube-searching-action-proposal-via-recurrent-and-static-regression-networks
#10
Hongyuan Zhu, Romain Vial, Shijian Lu, Xi Peng, Huazhu Fu, Yonghong Tian, Xianbin Cao
In this paper, we propose YoTube-a novel deep learning framework for generating action proposals in untrimmed videos, where each action proposal corresponds to a spatial-temporal tube that potentially locates one human action. Most of the existing works generate proposals by clustering low-level features or linking image proposals, which ignore the interplay between long-term temporal context and short-term cues. Different from these works, our method considers the interplay by designing a new recurrent YoTube detector and static YoTube detector...
June 2018: IEEE Transactions on Image Processing: a Publication of the IEEE Signal Processing Society
https://www.readbyqxmd.com/read/29532629/countries-with-an-immediate-potential-for-primary-prevention-of-spina-bifida-and-anencephaly-mandatory-fortification-of-wheat-flour-with-folic-acid
#11
Vijaya Kancherla
OBJECTIVES: Mandatory fortification of flour with folic acid has been proven to be a highly effective way to prevent spina bifida and anencephaly. Yet, over 100 countries worldwide do not implement this intervention. Our objectives were to identify countries with an immediate potential for mandatory fortification of wheat flour with folic acid and to estimate the number of preventable cases of spina bifida and anencephaly that would be averted each year through the intervention. METHODS: We examined folic acid fortification characteristics in countries as of September 2017...
March 13, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29488319/identification-of-transcripts-potentially-involved-in-neural-tube-closure-using-rna-sequencing
#12
Lexy M Kindt, Alicia R Coughlin, Tianna R Perosino, Haley Ersfeld, Marshall Hampton, Jennifer O Liang
Anencephaly is a fatal human neural tube defect (NTD) in which the anterior neural tube remains open. Zebrafish embryos with reduced Nodal signaling display an open anterior neural tube phenotype that is analogous to anencephaly. Previous work from our laboratory suggests that Nodal signaling acts through induction of the head mesendoderm and mesoderm. Head mesendoderm/mesoderm then, through an unknown mechanism, promotes formation of the polarized epithelium which is capable of undergoing the movements required for closure...
February 27, 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/29477223/vitamin-b-12
#13
A David Smith, Martin J Warren, Helga Refsum
The biosynthesis of B12 , involving up to 30 different enzyme-mediated steps, only occurs in bacteria. Thus, most eukaryotes require an external source of B12 , and yet the vitamin appears to have only two functions in eukaryotes: as a cofactor for the enzymes methionine synthase and methylmalonylCoA mutase. These two functions are crucial for normal health in humans, and in particular, the formation of methionine is essential for providing methyl groups for over 100 methylation processes. Interference with the methionine synthase reaction not only depletes the body of methyl groups but also leads to the accumulation of homocysteine, a risk factor for many diseases...
2018: Advances in Food and Nutrition Research
https://www.readbyqxmd.com/read/29477222/recent-developments-in-folate-nutrition
#14
Nassim Naderi, James D House
The term folate (vitamin B9) refers to a group of water-soluble compounds that are nutritionally essential for the support of optimal human health and development. Folates participate in numerous one-carbon transfer reactions, including the methylation of important biomolecules (lipids, amino acids, DNA). A deficiency of folate leads to pathological outcomes including anemia and impairments in reproductive health and fetal development. Due to the linkage of impaired folate status with an increased prevalence of neural tube defects (NTDs) in babies, several jurisdictions required the fortification of the food supply with folic acid, a synthetic and stable form of folate...
2018: Advances in Food and Nutrition Research
https://www.readbyqxmd.com/read/29470955/pi3k-regulates-intraepithelial-cell-positioning-through-rho-gtp-ases-in-the-developing-neural-tube
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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