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Human neural tube

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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
#1
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
#2
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
https://www.readbyqxmd.com/read/28192527/the-efficacy-of-a-scaffold-free-bio-3d-conduit-developed-from-human-fibroblasts-on-peripheral-nerve-regeneration-in-a-rat-sciatic-nerve-model
#3
Hirofumi Yurie, Ryosuke Ikeguchi, Tomoki Aoyama, Yukitoshi Kaizawa, Junichi Tajino, Akira Ito, Souichi Ohta, Hiroki Oda, Hisataka Takeuchi, Shizuka Akieda, Manami Tsuji, Koichi Nakayama, Shuichi Matsuda
BACKGROUND: Although autologous nerve grafting is the gold standard treatment of peripheral nerve injuries, several alternative methods have been developed, including nerve conduits that use supportive cells. However, the seeding efficacy and viability of supportive cells injected in nerve grafts remain unclear. Here, we focused on a novel completely biological, tissue-engineered, scaffold-free conduit. METHODS: We developed six scaffold-free conduits from human normal dermal fibroblasts using a Bio 3D Printer...
2017: PloS One
https://www.readbyqxmd.com/read/28152548/high-folic-acid-diet-enhances-tumour-growth-in-pymt-induced-breast-cancer
#4
Mariann Fagernæs Hansen, Sarah Østrup Jensen, Ernst-Martin Füchtbauer, Pia M Martensen
BACKGROUND: The B-vitamin folate is among the most studied bioactive food compound, and a dietary intake meeting the daily requirements has been found to reduce the risk of cancer and cardiovascular diseases as well as preventing neural tube defects during fetal development. Several countries have therefore introduced dietary fortification with folic acid. However, clinical and animal studies suggest that folic acid has a dual role in cancer development. METHODS: During the period of initial tumour progression, MMTV-PyMT (MMTV-polyoma virus middle T) transgenic mice were fed with normal diet and high folic acid diet...
February 2, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28144959/atrophin-protein-rere-positively-regulates-notch-targets-in-the-developing-vertebrate-spinal-cord
#5
Hui Wang, Hongxing Gui, Michael S Rallo, Zhiyan Xu, Michael P Matise
The Notch signaling pathway controls cell fate decision, proliferation and other biological functions in both vertebrates and invertebrates. Precise regulation of the canonical Notch pathway ensures robustness of the signal throughout development and adult tissue homeostasis. Aberrant Notch signaling results in profound developmental defects and is linked to many human diseases. In this study, we identified the Atrophin family protein RERE (also called Atro2) as a positive regulator of Notch target Hes genes in the developing vertebrate spinal cord...
January 31, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28120287/pre-pregnancy-obesity-as-a-modifier-of-gestational-diabetes-and-birth-defects-associations-a-systematic-review
#6
Aimee S Parnell, Adolfo Correa, E Albert Reece
Objective Inconsistent findings of associations between gestational diabetes mellitus (GDM) and birth defects suggest unaccounted confounders may underlie the actual basis for such associations. We conducted a systematic review to assess observed associations between GDM and birth defects and the extent to which these could be explained by pre-pregnancy obesity. Methods Using a combination of search terms for GDM and birth defects, we searched PubMed, Scopus, CINAHL, and ClinicalTrials.gov for human-based studies published through September 2013...
January 24, 2017: Maternal and Child Health Journal
https://www.readbyqxmd.com/read/28104793/rab23-s-genetic-structure-function-and-related-diseases-a-review
#7
Li-Qiang Zheng, Su-Min Chi, Cheng-Xin Li
Rab23, has been proven to play a role in membrane trafficking and protein transport in eukaryotic cells. Rab23 is also a negative regulator of the Sonic hedgehog signaling pathway in an indirect way. The nonsense mutation and loss of protein of Rab23 has been associated with neural tube defect in mice and aberrant expression in various diseases in human such as neural system,breast, visceral and cutaneous tumor. In addition, Rab23 may play joint  roles in autophagosome formation during anti-infection process against  Group A streptococcus...
January 19, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/28101427/dynamic-imaging-and-quantitative-analysis-of-cranial-neural-tube-closure-in-the-mouse-embryo-using-optical-coherence-tomography
#8
Shang Wang, Monica D Garcia, Andrew L Lopez, Paul A Overbeek, Kirill V Larin, Irina V Larina
Neural tube closure is a critical feature of central nervous system morphogenesis during embryonic development. Failure of this process leads to neural tube defects, one of the most common forms of human congenital defects. Although molecular and genetic studies in model organisms have provided insights into the genes and proteins that are required for normal neural tube development, complications associated with live imaging of neural tube closure in mammals limit efficient morphological analyses. Here, we report the use of optical coherence tomography (OCT) for dynamic imaging and quantitative assessment of cranial neural tube closure in live mouse embryos in culture...
January 1, 2017: Biomedical Optics Express
https://www.readbyqxmd.com/read/28077304/drosophila-dorsal-closure-an-orchestra-of-forces-to-zip-shut-the-embryo
#9
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
#10
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
#11
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
#12
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
#13
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...
April 5, 2017: Gene
https://www.readbyqxmd.com/read/27998989/inpp5e-regulates-phosphoinositide-dependent-cilia-transition-zone-function
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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