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https://www.readbyqxmd.com/read/28077304/drosophila-dorsal-closure-an-orchestra-of-forces-to-zip-shut-the-embryo
#1
REVIEW
Peran Hayes, Jérôme Solon
Dorsal closure, a late-embryogenesis process, consists in the sealing of an epidermal gap on the dorsal side of the Drosophila embryo. Because of its similarities with wound healing and neural tube closure in humans, it has been extensively studied in the last twenty years. The process requires the coordination of several force generating mechanisms, that together will zip shut the epidermis. Recent works have provided a precise description of the cellular behavior at the origin of these forces and proposed quantitative models of the process...
January 7, 2017: Mechanisms of Development
https://www.readbyqxmd.com/read/28057917/an-integrated-miniature-bioprocessing-for-personalized-human-induced-pluripotent-stem-cell-expansion-and-differentiation-into-neural-stem-cells
#2
Haishuang Lin, Qiang Li, Yuguo Lei
Human induced pluripotent stem cells (iPSCs) are ideal cell sources for personalized cell therapies since they can be expanded to generate large numbers of cells and differentiated into presumably all the cell types of the human body in vitro. In addition, patient specific iPSC-derived cells induce minimal or no immune response in vivo. However, with current cell culture technologies and bioprocessing, the cost for biomanufacturing clinical-grade patient specific iPSCs and their derivatives are very high and not affordable for majority of patients...
January 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28056489/use-of-high-frequency-ultrasound-to-study-the-prenatal-development-of-cranial-neural-tube-defects-and-hydrocephalus-in-gldc-deficient-mice
#3
Maria C Autuori, Yun J Pai, Daniel J Stuckey, Dawn Savery, Anna M Marconi, Valentina Massa, Mark F Lythgoe, Andrew J Copp, Anna L David, Nicholas D E Greene
OBJECTIVE: We used non-invasive high frequency ultrasound (HFUS) imaging to investigate embryonic brain development in a mouse model for neural tube defects (NTDs) and Non-Ketotic Hyperglycinemia (NKH). METHOD: Using HFUS, we imaged embryos carrying loss of function alleles of Gldc encoding glycine decarboxylase, a component of the glycine cleavage system in mitochondrial folate metabolism, which is known to be associated with cranial NTDs and NKH in humans. We serially examined the same litter during the second half of embryonic development and quantified cerebral structures...
January 5, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28050621/-a-two-faced-vitamin-folic-acid-prevention-or-promotion-of-colon-cancer
#4
Anke Weißenborn, Anke Ehlers, Karen-I Hirsch-Ernst, Alfonso Lampen, Birgit Niemann
In the late 1930s, it was discovered that liver and yeast extracts can be used to correct certain cases of megaloblastic anemia in pregnancy. The factor responsible for this was isolated from spinach leaves in the 1940s, and referred to as folate, a term derived from the Latin word folium for leaf. Folate is considered an essential nutrient for human beings. Folic acid, the synthetic form of the vitamin, is used in dietary supplements, medicines and fortified foods. Since the 1980s, it has been recommended that women who plan to become pregnant and pregnant women during the first trimester of pregnancy take folic acid supplements...
January 3, 2017: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
https://www.readbyqxmd.com/read/28043919/a-spontaneous-and-novel-pax3-mutant-mouse-that-models-waardenburg-syndrome-and-neural-tube-defects
#5
Tetsuo Ohnishi, Ikuo Miura, Hisako Ohba, Chie Shimamoto, Yoshimi Iwayama, Shigeharu Wakana, Takeo Yoshikawa
BACKGROUND: Genes responsible for reduced pigmentation phenotypes in rodents are associated with human developmental defects, such as Waardenburg syndrome, where patients display congenital deafness along with various abnormalities mostly related to neural crest development deficiency. OBJECTIVE: In this study, we identified a spontaneous mutant mouse line Rwa, which displays variable white spots on mouse bellies and white digits and tail, on a C57BL/6N genetic background...
December 30, 2016: Gene
https://www.readbyqxmd.com/read/27998989/inpp5e-regulates-phosphoinositide-dependent-cilia-transition-zone-function
#6
Jennifer M Dyson, Sarah E Conduit, Sandra J Feeney, Sandra Hakim, Tia DiTommaso, Alex J Fulcher, Absorn Sriratana, Georg Ramm, Kristy A Horan, Rajendra Gurung, Carol Wicking, Ian Smyth, Christina A Mitchell
Human ciliopathies, including Joubert syndrome (JBTS), arise from cilia dysfunction. The inositol polyphosphate 5-phosphatase INPP5E localizes to cilia and is mutated in JBTS. Murine Inpp5e ablation is embryonically lethal and recapitulates JBTS, including neural tube defects and polydactyly; however, the underlying defects in cilia signaling and the function of INPP5E at cilia are still emerging. We report Inpp5e(-/-) embryos exhibit aberrant Hedgehog-dependent patterning with reduced Hedgehog signaling. Using mouse genetics, we show increasing Hedgehog signaling via Smoothened M2 expression rescues some Inpp5e(-/-) ciliopathy phenotypes and "normalizes" Hedgehog signaling...
January 2, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/27995402/does-the-ileal-brake-contribute-to-delayed-gastric-emptying-after-pancreatoduodenectomy
#7
REVIEW
Savio G Barreto, John A Windsor
Delayed gastric emptying (DGE) represents a significant cause for morbidity following pancreatoduodenectomy (PD). At a time when no specific and universally effective therapy exists to treat these patients, elucidating other potential (preventable or treatable) mechanisms for DGE is important. The aim of the manuscript was to test the hypothesis that ileal brake contributes to DGE in PD patients receiving jejunal tube feeding by systematically reviewing experimental and clinical literature. A series of clinically relevant questions were framed related to the potential role of the ileal brake in development of DGE post-PD and formed the basis of targeted literature searches...
December 19, 2016: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/27987350/influence-of-beh%C3%A3-et-s-disease-on-first-and-second-trimester-serum-screening-markers
#8
Zehra Vural Yılmaz, Gülenay Gençosmanoğlu Türkmen, Elif Yılmaz, Korkut Dağlar, Ayşe Kırbaş, Cem Sanhal, Aykan Yücel, Dilek Uygur
AIM: Behçet's disease (BD) is a rare and multisystemic vasculitis disease. In this study, we investigated whether BD had any effect on the biochemical components of first and second trimester aneuploidy screening tests. METHODS: A case-control retrospective study was conducted with 32 pregnant women with BD and 60 healthy pregnant women as controls. All pregnant womens' first trimester maternal serum pregnancy-associated plasma protein-A, free β-human chorionic gonadotropin and second trimester serum alpha-fetoprotein, unconjugated estriol and total human chorionic gonadotropin levels were examined from medical records...
December 17, 2016: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/27925688/rare-deleterious-pard3-variants-in-the-apkc-binding-region-are-implicated-in-the-pathogenesis-of-human-cranial-neural-tube-defects-via-disrupting-apical-tight-junction-formation
#9
Xiaoli Chen, Yu An, Yonghui Gao, Liu Guo, Lei Rui, Hua Xie, Mei Sun, Siv Lam Hung, Xiaoming Sheng, Jizhen Zou, Yihua Bao, Hongyan Guan, Bo Niu, Zandong Li, Richard H Finnell, James F Gusella, Bai-Lin Wu, Ting Zhang
Increasing evidence that mutation of planar cell polarity (PCP) genes contributes to human cranial NTD susceptibility prompted us to hypothesize that rare variants of genes in the core apical-basal polarity (ABP) pathway are risk factors for cranial NTDs. In this study, we screened for rare genomic variation of PARD3 in 138 cranial NTD cases and 274 controls. Overall, the rare deleterious variants of PARD3 were significantly associated with increased risk for cranial NTDs (11/138 vs.7/274, p<0.05, OR = 3...
December 7, 2016: Human Mutation
https://www.readbyqxmd.com/read/27924807/genetic-and-molecular-analyses-indicate-independent-effects-of-tgifs-on-nodal-and-gli3-in-neural-tube-patterning
#10
Kenichiro Taniguchi, Anoush E Anderson, Tiffany A Melhuish, Anne L Carlton, Arkadi Manukyan, Ann E Sutherland, David Wotton
Holoprosencephaly (HPE) is a prevalent craniofacial developmental disorder that has both genetic and environmental causes. The gene encoding TG-interacting factor 1 (TGIF1) is among those that are routinely screened in HPE patients. However, the mechanisms by which TGIF1 variants cause HPE are not fully understood. TGIF1 is a transcriptional repressor that limits the output of the Transforming Growth Factor ß (TGFß)/Nodal signaling pathway, and HPE in patients with TGIF1 variants has been suggested to be due to increased Nodal signaling...
February 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27924730/congenital-malformations-attributed-to-prenatal-exposure-to-cyclophosphamide
#11
Padmanabhan Rengasamy
Cyclophosphamide (CPA) remains one of the most widely prescribed anticancer drugs. It is also used in the treatment of rheumatoid arthritis, childhood nephrotic syndrome and systemic lupus erythematosus. It is a potent immunosuppressive agent. It is commonly used in blood and bone marrow transplantation. With the growing trend among women postponing childbearing, the number of women who are diagnosed with breast cancer is also increasing thus escalating the chances of exposure of the unborn child to antineoplastic drugs...
December 6, 2016: Anti-cancer Agents in Medicinal Chemistry
https://www.readbyqxmd.com/read/27903287/high-content-imaging-quantification-of-multiple-in-vitro-human-neurogenesis-events-after-neurotoxin-exposure
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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