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https://www.readbyqxmd.com/read/28334810/bimodal-regulation-of-dishevelled-function-by-vangl2-during-morphogenesis
#1
Hwa-Seon Seo, Raymond Habas, Chenbei Chang, Jianbo Wang
Convergent extension (CE) is a fundamental morphogenetic mechanism that underlies numerous processes in vertebrate development, and its disruption can lead to human congenital disorders such as neural tube closure defects. The dynamic, oriented cell intercalation during CE is regulated by a group of core proteins identified originally in flies to coordinate epithelial planar cell polarity (PCP). The existing model explains how core PCP proteins, including Van Gogh (Vang) and Dishevelled (Dvl), segregate into distinct complexes on opposing cell cortex to coordinate polarity among static epithelial cells...
March 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28286691/spina-bifida-pathogenesis-mechanisms-and-genes-in-mice-and-humans
#2
REVIEW
Siti W Mohd-Zin, Ahmed I Marwan, Mohamad K Abou Chaar, Azlina Ahmad-Annuar, Noraishah M Abdul-Aziz
Spina bifida is among the phenotypes of the larger condition known as neural tube defects (NTDs). It is the most common central nervous system malformation compatible with life and the second leading cause of birth defects after congenital heart defects. In this review paper, we define spina bifida and discuss the phenotypes seen in humans as described by both surgeons and embryologists in order to compare and ultimately contrast it to the leading animal model, the mouse. Our understanding of spina bifida is currently limited to the observations we make in mouse models, which reflect complete or targeted knockouts of genes, which perturb the whole gene(s) without taking into account the issue of haploinsufficiency, which is most prominent in the human spina bifida condition...
2017: Scientifica
https://www.readbyqxmd.com/read/28276201/rare-deleterious-variants-in-grhl3-are-associated-with-human-spina-bifida
#3
Philippe Lemay, Patrizia De Marco, Alexandre Emond, Dan Spiegelman, Alexandre Dionne-Laporte, Sandra Laurent, Elisa Merello, Andrea Accogli, Guy A Rouleau, Valeria Capra, Zoha Kibar
Neural tube defects (NTDs), including spina bifida, are among the most common birth defects caused by failure of neural tube closure during development. They have a complex etiology involving largely undetermined environmental and genetic factors. Previous studies in mouse models have implicated the transcription factor Grhl3 as an important factor in the pathogenesis of spina bifida. In the present study, we conducted a re-sequencing analysis of GRHL3 in a cohort of 233 familial and sporadic cases of spina bifida...
March 8, 2017: Human Mutation
https://www.readbyqxmd.com/read/28266009/a-detailed-musculoskeletal-study-of-a-fetus-with-anencephaly-and-spina-bifida-craniorachischisis-and-comparison-with-other-cases-of-human-congenital-malformations
#4
Malak A Alghamdi, Janine M Ziermann, Lydia Gregg, Rui Diogo
Few descriptions of the musculoskeletal system of humans with anencephaly or spina bifida exist in the literature. Even less is published about individuals in which both phenomena occur together, i.e. about craniorachischisis. Here we provide a detailed report on the musculoskeletal structures of a fetus with craniorachischisis, as well as comparisons with the few descriptions for anencephaly and with musculoskeletal anomalies found in other congenital malformations. We focused in particular on the comparison with trisomies 13, 18, and 21 because neural tube defects have been associated with such chromosomal defects...
March 7, 2017: Journal of Anatomy
https://www.readbyqxmd.com/read/28261784/fatal-folic-acid-toxicity-in-humans
#5
Gerard Pradeep Devnath, Senthil Kumaran, R Rajiv, Kusa Kumar Shaha, Ashok Nagaraj
Folic acid is B-9 vitamin. Folic acid is prescribed commonly for pregnant women to prevent neural tube defects in the fetus, patients under chemotherapy, pernicious anemia and to reduce the risk of stroke and cardiovascular disease. Acute or chronic ingestion of a large dose of folic acid generally manifests as neurological complications, which are reversible. In this present case, a 23-year-old pregnant woman committed suicide by consuming folic acid tablets and succumbed to death within 36 h. Postmortem toxicological analysis detected folic acid in viscera...
March 6, 2017: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/28244241/folate-receptors-and-neural-tube-closure
#6
REVIEW
Hirotomo Saitsu
Neural tube defects (NTD) are among the most common human congenital malformations, affecting 0.5-8/1000 of live births. Human clinical trials have shown that periconceptional folate supplementation significantly decreases the occurrence of NTD in offspring. However, the mechanism by which folate acts on NTD remains largely unknown. Folate receptor (Folr) is one of the three membrane proteins that mediate cellular uptake of folates. Recent studies suggest that mouse Folr1 (formerly referred to as Fbp1) is essential for neural tube closure...
February 28, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28243254/myoinositol-the-bridge-ponti-to-reach-a-healthy-pregnancy
#7
REVIEW
Pietro Cavalli, Elena Ronda
The use of folic acid in the periconceptional period can prevent about 70% of neural tube defects (NTDs). In the remaining cases, no medical prevention is available, and those conditions should be defined as folate-resistant NTDs. Rodent models suggest that some folate-resistant NTDs can be prevented by inositol (myoinositol and chiroinositol) supplementation prior to pregnancy. Should folic acid be combined with myoinositol periconceptional supplementation to reduce the overall risk of NTDs even in humans? Hereafter, we discuss the results from the PONTI study that strongly support both the effectiveness and safety of myoinositol periconceptional supplementation in preventing human NTDs...
2017: International Journal of Endocrinology
https://www.readbyqxmd.com/read/28221941/the-hap-complex-governs-fumonisin-biosynthesis-and-maize-kernel-pathogenesis-in-fusarium-verticillioides
#8
John B Ridenour, Jonathon E Smith, Burton H Bluhm
Contamination of maize ( Zea mays ) with fumonisins produced by the fungus Fusarium verticillioides is a global concern for food safety. Fumonisins are a group of polyketide-derived secondary metabolites linked to esophageal cancer and neural tube birth defects in humans and numerous toxicoses in livestock. Despite the importance of fumonisins in global maize production, the regulation of fumonisin biosynthesis during kernel pathogenesis is poorly understood. The HAP complex is a conserved, heterotrimeric transcriptional regulator that binds the consensus sequence CCAAT to modulate gene expression...
September 2016: Journal of Food Protection
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
#9
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
#10
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
#11
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
#12
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...
March 14, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28144959/atrophin-protein-rere-positively-regulates-notch-targets-in-the-developing-vertebrate-spinal-cord
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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...
March 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28050621/-a-two-faced-vitamin-folic-acid-prevention-or-promotion-of-colon-cancer
#20
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
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