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https://www.readbyqxmd.com/read/27903287/high-content-imaging-quantification-of-multiple-in-vitro-human-neurogenesis-events-after-neurotoxin-exposure
#1
Xian Wu, Anirban Majumder, Robin Webb, Steven L Stice
BACKGROUND: Our objective was to test neural active compounds in a human developmental neurotoxicity (DNT) model that represents neural tube stages of vulnerability. Previously we showed that 14 days in vitro (DIV 14) was sufficient to generate cryopreserved neuronal cells for post thaw neurite recovery assays. However, short exposure and assessment may not detect toxicants that affect an early neurogenesis continuum, from a mitotic human neural progenitor (hNP) cell population through the course of neurite outgrowth in differentiating neurons...
December 1, 2016: BMC Pharmacology & Toxicology
https://www.readbyqxmd.com/read/27894241/a-novel-relationship-for-schizophrenia-bipolar-and-major-depressive-disorder-part-6-a-hint-from-chromosome-6-high-density-association-screen
#2
X Chen, F Long, B Cai, X Chen, G Chen
Convergent evidence from genetics, symptomatology and psychopharmacology imply that there are intrinsic connections between schizophrenia (SCZ), bipolar disorder (BPD) and major depressive disorder (MDD), for example, any two or even three of these disorders could co-exist in some families. A total of 56.400 single nucleotide polymorphism (SNPs) on chromosome 6 were genotyped by Affymetrix Genome-Wide Human SNP array 6.0 on 119 SCZ, 253 BPD (type-I), 177 MDD patients and 1000 controls. Associated SNP loci on chromosome 6 were comprehensively revealed and outstanding susceptibility genes were identified including JARID2 (Homo sapiens jumonji, AT rich interactive domain 2) which plays an essential role in embryonic development and neural tube fusion process...
November 28, 2016: Current Molecular Medicine
https://www.readbyqxmd.com/read/27883265/genomic-approaches-to-the-assessment-of-human-spina-bifida-risk
#3
REVIEW
M Elizabeth Ross, Christopher E Mason, Richard H Finnell
Structural birth defects are a leading cause of mortality and morbidity in children world-wide, affecting as much as 6% of all live births. Among these conditions, neural tube defects (NTDs), including spina bifida and anencephaly, arise from a combination of complex gene and environment interactions that are as yet poorly understood within human populations. Rapid advances in massively parallel DNA sequencing and bioinformatics allow for analyses of the entire genome beyond the 2% of the genomic sequence covering protein coding regions...
November 24, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27883261/prevention-of-neural-tube-defects-in-lrp-mutant-mouse-embryos-by-folic-acid-supplementation
#4
Julia A Sabatino, Bethany A Stokes, Irene E Zohn
BACKGROUND: Neural tube defects (NTDs) are among the most common structural birth defects in humans and are caused by the complex interaction of genetic and environmental factors. Periconceptional supplementation with folic acid can prevent NTDs in both mouse models and human populations. A better understanding of how genes and environmental factors interact is critical toward development of rational strategies to prevent NTDs. Low density lipoprotein-related protein 2 (Lrp2) is involved in endocytosis of the folic acid receptor among numerous other nutrients and ligands...
November 24, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27875541/new-perspective-on-impact-of-folic-acid-supplementation-during-pregnancy-on-neurodevelopment-autism-in-the-offspring-children-a-systematic-review
#5
Yunfei Gao, Chao Sheng, Ri-Hua Xie, Wen Sun, Elizabeth Asztalos, Diane Moddemann, Lonnie Zwaigenbaum, Mark Walker, Shi Wu Wen
It has been conclusively established that folic acid supplementation prior to and during early pregnancy (up to 12 weeks of gestation) can prevent neural tube defects (NTDs). We hypothesized that folate effects may extend from neuro-structural defects to alterations in neuro-behavioural and emotional skills including autism spectrum disorders (ASDs) and other developmental disorders. The objective of this review was to comprehensively evaluate evidence on the impact of folic acid on neurodevelopment other than NTDs...
2016: PloS One
https://www.readbyqxmd.com/read/27844023/could-folic-acid-influence-growth-cone-motility-during-the-development-of-neural-connectivity
#6
COMMENT
Darrell Wiens
Perinatal dietary supplementation, together with widespread fortification of grain-based foods with synthetic folic acid (FA) has resulted in rising concentrations of unmetabolized plasma FA in pregnant women. In a recently published study we reported on experiments in which we cultured dorsal root ganglia from chick embryos in a range of FA concentrations. We found that FA inhibited neurite extension, synaptogenesis, and growth cone motility. In this commentary we consider the possible mechanism further. The effect of FA is more likely to be on motility processes of growth cones with their exploratory filapodia than on neurotrophic stimulation...
2016: Neurogenesis (Austin, Tex.)
https://www.readbyqxmd.com/read/27801974/does-arsenic-increase-the-risk-of-neural-tube-defects-among-a-highly-exposed-population-a-new-case-control-study-in-bangladesh
#7
Maitreyi Mazumdar
BACKGROUND: Neural tube defects are debilitating birth defects that occur when the developing neural plate fails to close in early gestation. Arsenic induces neural tube defects in animal models, but whether environmental arsenic exposure increases risk of neural tube defects in humans is unknown. METHODS: We describe a new case-control study in Bangladesh, a country currently experiencing an epidemic of arsenic poisoning through contaminated drinking water. We plan to understand how arsenic influences risk of neural tube defects in humans through mechanisms that include disruption of maternal glucose and folate metabolism, as well as epigenetic effects...
November 1, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27796548/unjoined-primary-and-secondary-neural-tubes-junctional-neural-tube-defect-a-new-form-of-spinal-dysraphism-caused-by-disturbance-of-junctional-neurulation
#8
Sebastian Eibach, Greg Moes, Yong Jin Hou, John Zovickian, Dachling Pang
INTRODUCTION: Primary and secondary neurulation are the two known processes that form the central neuraxis of vertebrates. Human phenotypes of neural tube defects (NTDs) mostly fall into two corresponding categories consistent with the two types of developmental sequence: primary NTD features an open skin defect, an exposed, unclosed neural plate (hence an open neural tube defect, or ONTD), and an unformed or poorly formed secondary neural tube, and secondary NTD with no skin abnormality (hence a closed NTD) and a malformed conus caudal to a well-developed primary neural tube...
October 29, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27768235/genetic-backgrounds-and-modifier-genes-of-ntd-mouse-models-an-opportunity-for-greater-understanding-of-the-multifactorial-etiology-of-neural-tube-defects
#9
Renee Y M Leduc, Parmveer Singh, Heather E McDermid
Neurulation, the early embryonic process of forming the presumptive brain and spinal cord, is highly complex and involves hundreds of genes in multiple genetic pathways. Mice have long served as a genetic model for studying human neurulation, and the resulting neural tube defects (NTDs) that arise when neurulation is disrupted. Because mice appear to show mostly single gene inheritance for NTDs and humans show multifactorial inheritance, mice sometimes have been characterized as a simpler model for the identification and study of NTD genes...
October 21, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27758857/structure-of-the-shroom-rho-kinase-complex-reveals-a-binding-interface-with-monomeric-shroom-that-regulates-cell-morphology-and-stimulates-kinase-activity
#10
Jenna K Zalewski, Joshua H Mo, Simone Heber, Annie Heroux, Richard G Gardner, Jeffrey D Hildebrand, Andrew P VanDemark
Shroom-mediated remodeling of the actomyosin cytoskeleton is a critical driver of cellular shape and tissue morphology that underlies the development of many tissues including the neural tube, eye, intestines, and vasculature. Shroom uses a conserved SD2 domain to direct the subcellular localization of Rho-associated kinase (Rock), which in turn drives changes in the cytoskeleton and cellular morphology through its ability to phosphorylate and activate non-muscle myosin II. Here, we present the structure of the human Shroom-Rock binding module, revealing an unexpected stoichiometry for Shroom in which two Shroom SD2 domains bind independent surfaces on Rock...
December 2, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27757173/methylome-analysis-for-spina-bifida-shows-sox18-hypomethylation-as-a-risk-factor-with-evidence-for-a-complex-epi-genetic-interplay-to-affect-neural-tube-development
#11
Anne Rochtus, Raf Winand, Griet Laenen, Elise Vangeel, Benedetta Izzi, Christine Wittevrongel, Yves Moreau, Carla Verpoorten, Katrien Jansen, Chris Van Geet, Kathleen Freson
BACKGROUND: Neural tube defects (NTDs) are severe congenital malformations that arise from failure of neurulation during early embryonic development. The molecular basis underlying most human NTDs still remains largely unknown. Based on the hypothesis that folic acid prevents NTDs by stimulating methylation reactions, DNA methylation changes could play a role in NTDs. We performed a methylome analysis for patients with myelomeningocele (MMC). Using a candidate CpG analysis for HOX genes, a significant association between HOXB7 hypomethylation and MMC was found...
2016: Clinical Epigenetics
https://www.readbyqxmd.com/read/27756857/genetic-analysis-of-rare-coding-mutations-in-celsr1-3-in-chinese-congenital-heart-and-neural-tube-defects
#12
Xiaojing Qiao, Yahui Liu, Peiqiang Li, Zhongzhong Chen, Huili Li, Xueyan Yang, Richard H Finnell, Zhangmin Yang, Ting Zhang, Bin Qiao, Yufang Zheng, Hongyan Wang
The planar cell polarity (PCP) pathway is critical for proper embryonic development of the neural tube and heart. Mutations in these genes have previously been implicated in the pathogenesis of neural tube defects (NTDs), but not in congenital heart defects (CHDs) in humans. We systematically identified the mutation patterns of CELSR1-3 , one family of the core PCP genes, in human cohorts composed of 352 NTD cases, 412 CHD cases, and matched controls. A total of 72 disease-specific rare novel coding mutations were identified, of which 37 were identified in CHD cases, and 36 were identified in NTD patients...
October 18, 2016: Clinical Science (1979-)
https://www.readbyqxmd.com/read/27739239/critical-congenital-heart-defects-and-abnormal-levels-of-routinely-collected-first-and-second-trimester-biomarkers
#13
Melissa Borelli, Rebecca J Baer, Christina D Chambers, Tyler C Smith, Laura L Jelliffe-Pawlowski
We examined the association between maternal characteristics, routinely collected first- and second-trimester biomarkers and the risk of having an infant with a critical congenital heart defect (CCHD). Included were women who participated in the California Prenatal Screening Program who had nuchal translucency (NT) measurement and first- and second-trimester serum screening. All pregnancies ended in a live birth of an infant without aneuploidy or a neural tube defect. Poisson regression analyses were used to estimate the relative risk and 95% confidence interval of a CCHD by maternal characteristics, first- and second-trimester serum biomarkers or NT measurements...
October 14, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27731925/g-protein-coupled-receptor-signaling-and-neural-tube-closure-defects
#14
Issei S Shimada, Saikat Mukhopadhyay
Disruption of the normal mechanisms that mediate neural tube closure can result in neural tube defects (NTDs) with devastating consequences in affected patients. With the advent of next-generation sequencing, we are increasingly detecting mutations in multiple genes in NTD cases. However, our ability to determine which of these genes contribute to the malformation is limited by our understanding of the pathways controlling neural tube closure. G-protein-coupled receptors (GPCRs) comprise the largest family of transmembrane receptors in humans and have been historically favored as drug targets...
October 12, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27725019/south-african-congenital-disorders-data-2006-2014
#15
V Lebese, C Aldous, H L Malherbe
BACKGROUND: The National Department of Health in South Africa (SA) routinely collects congenital disorder (CD) data for its national CD surveillance system. The current system has been implemented since 2006, but no reports on the data collected, methodology, achievements or challenges have been published to date. OBJECTIVES: To ascertain the effectiveness of the current national CD surveillance system and its implementation. METHOD: A descriptive, retrospective study using an audit of the current database was undertaken to evaluate the number of notifications received, types of CDs reported and the quality of reporting across SA for data received from 2006 to 2014...
September 5, 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/27714636/mark2-par1b-insufficiency-attenuates-dvl-gene-transcription-via-histone-deacetylation-in-lumbosacral-spina-bifida
#16
Shuyuan Chen, Qin Zhang, Baoling Bai, Shengrong Ouyang, Yihua Bao, Huili Li, Ting Zhang
Dishevelled (DVL/Dvl) genes play roles in canonical and noncanonical Wnt signaling, both of which are essential in neural tube closing and are involved in balancing neural progenitor growth and differentiation, or neuroepithelial cell polarity, respectively. In mouse Dvl haploinsufficiency leads to neural tube defects (NTDs), which represent the second most common birth defects. However, DVL genes' genetic contributions in human NTDs are modest. We sought to explore the molecular impact on such genes in human NTDs in a Han Chinese cohort...
October 6, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27685638/human-exposure-to-environmental-contaminants-and-congenital-anomalies-a-critical-review
#17
Warren G Foster, Jane A Evans, Julian Little, Laura Arbour, Aideen Moore, Reg Sauve, Juan Andrés León, Wei Luo
Congenital anomalies are an important cause of infant mortality and disability. Developmental exposure to environmental contaminants is thought to increase the risk for congenital anomalies. Herein, we describe a critical review of the literature conducted between February and March 2014 yielding 3057 references from which 97 unique relevant articles published from 2003 through 2014 were evaluated. Common congenital anomalies including hypospadias, cryptorchidism, anogenital distance (AGD), congenital heart defects and oral clefts were well represented in the literature whereas other outcomes such as neural tube defects, limb deficiency defects and gastroschisis were rarely described...
August 11, 2016: Critical Reviews in Toxicology
https://www.readbyqxmd.com/read/27623213/akt-ions-with-a-twist-between-emt-and-met
#18
Huifang Tang, Daniela Massi, Brian A Hemmings, Mario Mandalà, Zhengqiang Hu, Andreas Wicki, Gongda Xue
The transcription factor Twist is an important regulator of cranial suture during embryogenesis. Closure of the neural tube is achieved via Twist-triggered cellular transition from an epithelial to mesenchymal phenotype, a process known as epithelial-mesenchymal transition (EMT), characterized by a remarkable increase in cell motility. In the absence of Twist activity, EMT and associated phenotypic changes in cell morphology and motility can also be induced, albeit moderately, by other transcription factor families, including Snail and Zeb...
August 11, 2016: Oncotarget
https://www.readbyqxmd.com/read/27618287/bioactive-4-oxoheptanedioic-monoamide-derivatives-of-proteins-and-ethanolaminephospholipids-products-of-docosahexaenoate-oxidation
#19
Junhong Guo, Li Hong, Xiaoxia Z West, Hua Wang, Robert G Salomon
Oxidative stress causes lipid-derived oxidative modification of biomolecules that has been implicated in many pathological states. Phospholipids containing polyunsaturated fatty acids are major targets of free radical-initiated oxidation. Phospholipids that incorporate docosahexaenoate (DHA) are highly enriched in important neural structures including the brain and retina, where DHA comprises 40% and 60% of total fatty acids, respectively. Oxidative fragmentation of 2-docosahexaenoyl-1-palmityl-sn-glycerophosphocholine generates esters of 4-hydroxy-7-oxohept-5-enoic acid (HOHA) and 4-keto-7-oxohept-5-enoic acid (KOHA) with 2-lysophosphatidylcholine, HOHA-PC, and KOHA-PC...
October 17, 2016: Chemical Research in Toxicology
https://www.readbyqxmd.com/read/27608170/stage-specific-roles-of-fgf2-signaling-in-human-neural-development
#20
Marta Grabiec, Hana Hříbková, Miroslav Vařecha, Dana Střítecká, Aleš Hampl, Petr Dvořák, Yuh-Man Sun
This study elucidated the stage-specific roles of FGF2 signaling during neural development using in-vitro human embryonic stem cell-based developmental modeling. We found that the dysregulation of FGF2 signaling prior to the onset of neural induction resulted in the malformation of neural rosettes (a neural tube-like structure), despite cells having undergone neural induction. The aberrant neural rosette formation may be attributed to the misplacement of ZO-1, which is a polarized tight junction protein and shown co-localized with FGF2/FGFR1 in the apical region of neural rosettes, subsequently led to abnormal neurogenesis...
August 27, 2016: Stem Cell Research
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