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Human neural tube

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https://www.readbyqxmd.com/read/29034232/maternally-contributed-folate-receptor-1-is-expressed-in-ovarian-follicles-and-contributes-to-preimplantation-development
#1
Trine Strandgaard, Solveig Foder, Anders Heuck, Erik Ernst, Morten S Nielsen, Karin Lykke-Hartmann
Folates have been shown to play a crucial role for proper development of the embryo as folate deficiency has been associated with reduced developmental capacity such as increased risk of fetal neural tube defects and spontanous abortion. Transcripts encoding the reduced folate carrier RFC1 (SLC19A1 protein) and the high-affinity folate receptor FOLR1 are expressed in oocytes and preimplantation embryos, respectively. In this study, we observed maternally contributed FOLR1 protein during mouse and human ovarian follicle development, and 2-cell mouse embryos...
2017: Frontiers in Cell and Developmental Biology
https://www.readbyqxmd.com/read/28982681/early-neonatal-loss-of-inhibitory-synaptic-input-to-the-spinal-motor-neurons-confers-spina-bifida-like-leg-dysfunction-in-a-chicken-model
#2
Md Sakirul Islam Khan, Hiroaki Nabeka, Farzana Islam, Tetsuya Shimokawa, Shouichiro Saito, Xuan Li, Soichiro Kawabe, Fumihiko Hamada, Tetsuya Tachibana, Seiji Matsuda
Spina bifida aperta (SBA), one of the most common congenital malformations, causes lifelong neurological complications particularly in terms of motor dysfunction. Fetuses with SBA exhibit voluntary leg movements in utero and during early neonatal life but these disappear within the first few weeks after birth. However, the pathophysiological sequence underlying such motor dysfunction remains unclear. Additionally, because important insights have yet to be obtained from human cases, an appropriate animal model is essential...
October 5, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28976125/in-human-alleles-specific-variation-of-mthfr-c677t-and-a1298c-associated-risk-factor-for-the-development-of-ovarian-cancer
#3
Anupama Singh, S Pandey, L K Pandey, Ajit K Saxena
Etiopathology of tumor biology is highly complex and ovarian cancer is one of the important gynaecological neoplasia associated with <b>high risk<b> of mortality rate. Methlenetetrahydrofolate reductase (MTHFR) mutation are commonly linked to folate metabolism with increased risk factor for the development of neural tube defects, recurrent pregnancy loss and development of several type of cancer but genetic interaction between two alleles of MTHFR has been poorly defined in ovarian cancer in India...
September 2017: Journal of Experimental Therapeutics & Oncology
https://www.readbyqxmd.com/read/28973288/novel-foxa2-mutation-causes-hyperinsulinism-hypopitutarism-with-craniofacial-and-endoderm-derived-organ-abnormalities
#4
Dinesh Giri, Maria Lillina Vignola, Angelica Gualtieri, Valeria Scagliotti, Paul McNamara, Matthew Peak, Mohammed Didi, Carles Gaston-Massuet, Senthil Senniappan
Congenital hypopituitarism(CH) is characterised by the deficiency of one or more pituitary hormones and can present alone or in association with complex disorders. Congenital hyperinsulinism(CHI) is a disorder of unregulated insulin secretion despite hypoglycemia that can occur in isolation or as part of a wider syndrome. Molecular diagnosis is unknown in many cases of CH and CHI. The underlying genetic etiology causing the complex phenotype of CH and CHI is unknown. In this study, we identified a de novo heterozygous mutation in the developmental transcription factor, forkhead box A2, FOXA2 (c...
August 24, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28968208/efficacy-and-stability-studies-of-microbial-folate-fortified-fruit-juices-prepared-using-probiotic-microorganism
#5
S Deep, S Ojha, S Kundu
Folate, natural form of water soluble vitamin folic acid, is significant for humans as involved in most important metabolic reactions i.e. nucleotide synthesis and amino acid inter conversions. Thus its deficiency causes neural tube defects in newborns and cardiovascular diseases, and cancers. Humans cannot synthesize folate de novo so consumption through diet is essential. Natural food sources, supplements and fortified food products are the choices available to complete the Daily recommended intake. However microbial fortification using probiotics recently gained wide attention due to dual advantage of natural food matrix with enhanced folate content along with the probiotics benefits...
July 31, 2017: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/28960852/novel-mutation-of-lrp6-identified-in-chinese-han-population-links-canonical-wnt-signaling-to-neural-tube-defects
#6
Zhiwen Shi, Xueyan Yang, Bin-Bin Li, Shuxia Chen, Luming Yang, Liangping Cheng, Ting Zhang, Hongyan Wang, Yufang Zheng
BACKGROUND: Neural tube defects (NTDs), the second most frequent cause of human congenital abnormalities, are debilitating birth defects due to failure of neural tube closure. It has been shown that noncanonical WNT/planar cell polarity (PCP) signaling is required for convergent extension (CE), the initiation step of neural tube closure (NTC). But the effect of canonical WNT//β-catenin signaling during NTC is still elusive. LRP6 (low density lipoprotein receptor related proteins 6) was identified as a co-receptor for WNT/β-catenin signaling, but recent studies showed that it also can mediate WNT/PCP signaling...
September 29, 2017: Birth defects research
https://www.readbyqxmd.com/read/28948692/mutations-in-folate-transporter-genes-and-risk-for-human-myelomeningocele
#7
Tina O Findley, Joy C Tenpenny, Michelle R O'Byrne, Alanna C Morrison, James E Hixson, Hope Northrup, Kit Sing Au
The molecular mechanisms linking folate deficiency and neural tube defect (NTD) risk in offspring remain unclear. Folate transporters (SLC19A1, SLC46A1, SLC25A32, and FOLH1) and folate receptors (FOLR1, FOLR2, and FOLR3) are suggested to play essential roles in transporting folate from maternal intestinal lumen to the developing embryo. Loss of function variants in these genes may affect folate availability and contribute to NTD risk. This study examines whether variants within the folate transporter and receptor genes are associated with an increased risk for myelomeningocele (MM)...
September 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28944587/finding-the-genetic-mechanisms-of-folate-deficiency-and-neural-tube-defects-leaving-no-stone-unturned
#8
REVIEW
Kit Sing Au, Tina O Findley, Hope Northrup
Neural tube defects (NTDs) occur secondary to failed closure of the neural tube between the third and fourth weeks of gestation. The worldwide incidence ranges from 0.3 to 200 per 10,000 births with the United States of American NTD incidence at around 3-6.3 per 10,000 dependent on race and socioeconomic background. Human NTD incidence has fallen by 35-50% in North America due to mandatory folic acid fortification of enriched cereal grain products since 1998. The US Food and Drug Administration has approved the folic acid fortification of corn masa flour with the goal to further reduce the incidence of NTDs, especially among individuals who are Hispanic...
September 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28904534/three-dimensional-organoid-system-transplantation-technologies-in-future-treatment-of-central-nervous-system-diseases
#9
REVIEW
NaiLi Wei, ZiFang Quan, Hailiang Tang, JianHong Zhu
In recent years, scientists have made great achievements in understanding the development of human brain and elucidating critical elements of stepwise spatiotemporal control strategies in neural stem cell specification lineage, which facilitates successful induction of neural organoid in vitro including the cerebral cortex, cerebellar, neural tube, hippocampus cortex, pituitary, and optic cup. Besides, emerging researches on neural organogenesis promote the application of 3D organoid system transplantation in treating central nervous system (CNS) diseases...
2017: Stem Cells International
https://www.readbyqxmd.com/read/28898253/engineering-human-cell-spheroids-to-model-embryonic-tissue-fusion-in-vitro
#10
David G Belair, Cynthia J Wolf, Carmen Wood, Hongzu Ren, Rachel Grindstaff, William Padgett, Adam Swank, Denise MacMillan, Anna Fisher, Witold Winnik, Barbara D Abbott
Epithelial-mesenchymal interactions drive embryonic fusion events during development, and perturbations of these interactions can result in birth defects. Cleft palate and neural tube defects can result from genetic defects or environmental exposures during development, yet very little is known about the effect of chemical exposures on fusion events during human development because of a lack of relevant and robust human in vitro assays of developmental fusion behavior. Given the etiology and prevalence of cleft palate and the relatively simple architecture and composition of the embryonic palate, we sought to develop a three-dimensional culture system that mimics the embryonic palate and could be used to study fusion behavior in vitro using human cells...
2017: PloS One
https://www.readbyqxmd.com/read/28859338/human-brain-abnormalities-associated-with-prenatal-alcohol-exposure-and-fetal-alcohol-spectrum-disorder
#11
Jessica S Jarmasz, Duaa A Basalah, Albert E Chudley, Marc R Del Bigio
Fetal alcohol spectrum disorder (FASD) is a common neurodevelopmental problem, but neuropathologic descriptions are rare and focused on the extreme abnormalities. We conducted a retrospective survey (1980-2016) of autopsies on 174 individuals with prenatal alcohol exposure or an FASD diagnosis. Epidemiologic details and neuropathologic findings were categorized into 5 age groups. Alcohol exposure was difficult to quantify. When documented, almost all mothers smoked tobacco, many abused other substances, and prenatal care was poor or nonexistent...
September 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28844822/diet-and-fertility-a-review
#12
REVIEW
Audrey J Gaskins, Jorge E Chavarro
The literature on the relationship between diet and human fertility has greatly expanded over the last decade, resulting in the identification of a few clear patterns. Intake of supplemental folic acid, particularly at doses higher than those recommended for the prevention of neural tube defects, has been consistently related to lower frequency of infertility, lower risk of pregnancy loss, and greater success in infertility treatment. On the other hand and despite promising evidence from animal models, vitamin D does not appear to exert an important role in human fertility in the absence of deficiency...
August 24, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28801591/new-variant-and-expression-studies-provide-further-insight-into-the-genotype-phenotype-correlation-in-yap1-related-developmental-eye-disorders
#13
R Holt, F Ceroni, D A Bax, S Broadgate, D Gold Diaz, C Santos, D Gerrelli, N K Ragge
YAP1, which encodes the Yes-associated protein 1, is part of the Hippo pathway involved in development, growth, repair and homeostasis. Nonsense YAP1 mutations have been shown to co-segregate with autosomal dominantly inherited coloboma. Therefore, we screened YAP1 for variants in a cohort of 258 undiagnosed UK patients with developmental eye disorders, including anophthalmia, microphthalmia and coloboma. We identified a novel 1 bp deletion in YAP1 in a boy with bilateral microphthalmia and bilateral chorioretinal coloboma...
August 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28800946/three-tctn-proteins-are-functionally-conserved-in-the-regulation-of-neural-tube-patterning-and-gli3-processing-but-not-ciliogenesis-and-hedgehog-signaling-in-the-mouse
#14
Chengbing Wang, Jia Li, Qing Meng, Baolin Wang
Tctn1, Tctn2, and Tctn3 are membrane proteins that localize at the transition zone of primary cilia. Tctn1 and Tctn2 mutations have been reported in both humans and mice, but Tctn3 mutations have been reported only in humans. It is also not clear whether the three Tctn proteins are functionally conserved with respect to ciliogenesis and Hedgehog (Hh) signaling. In the present study, we report that loss of Tctn3 gene function in mice results in a decrease in ciliogenesis and Hh signaling. Consistent with this, Tctn3 mutant mice exhibit holoprosencephaly and randomized heart looping and lack the floor plate in the neural tube, the phenotypes similar to those of Tctn1 and Tctn2 mutants...
October 1, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28795440/single-site-neural-tube-closure-in-human-embryos-revisited
#15
Bernadette S de Bakker, Stan Driessen, Bastiaan J D Boukens, Maurice J B van den Hoff, Roelof-Jan Oostra
Since the multi-site closure theory was first proposed in 1991 as explanation for the preferential localizations of neural tube defects, the closure of the neural tube has been debated. Although the multi-site closure theory is much cited in clinical literature, single-site closure is most apparent in literature concerning embryology. Inspired by Victor Hamburgers (1900-2001) statement that "our real teacher has been and still is the embryo, who is, incidentally, the only teacher who is always right", we decided to critically review both theories of neural tube closure...
August 10, 2017: Clinical Anatomy
https://www.readbyqxmd.com/read/28793267/epigenomic-landscapes-of-hesc-derived-neural-rosettes-modeling-neural-tube-formation-and-diseases
#16
Cristina Valensisi, Colin Andrus, Sam Buckberry, Naresh Doni Jayavelu, Riikka J Lund, Ryan Lister, R David Hawkins
We currently lack a comprehensive understanding of the mechanisms underlying neural tube formation and their contributions to neural tube defects (NTDs). Developing a model to study such a complex morphogenetic process, especially one that models human-specific aspects, is critical. Three-dimensional, human embryonic stem cell (hESC)-derived neural rosettes (NRs) provide a powerful resource for in vitro modeling of human neural tube formation. Epigenomic maps reveal enhancer elements unique to NRs relative to 2D systems...
August 8, 2017: Cell Reports
https://www.readbyqxmd.com/read/28721594/exome-analysis-in-an-estonian-multiplex-family-with-neural-tube-defects-a-case-report
#17
Liina Pappa, Mart Kals, Paula Ann Kivistik, Andres Metspalu, Ann Paal, Tiit Nikopensius
INTRODUCTION: Neural tube defects (NTDs) are a group of common and severe congenital birth defects that occur during early embryonic development due to incomplete closure of the neural tube. The genetic architecture of human NTDs, including spina bifida and hydrocephalus, is highly heterogeneous, with multiple genes/loci and both gene-gene and gene-environment interactions involved. Hence, the variation in outcomes also most likely relates to a combination of the severity of different variants in multiple genes and genetic modifiers affecting the biochemical traits...
July 18, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28695418/csf-based-analysis-for-identification-of-potential-serum-biomarkers-of-neural-tube-defects
#18
Xinyu Yan, Lixin Mai, Changchun Lin, Wenji He, Gengsheng Yin, Jiakang Yu, Lian Huang, Sanqiang Pan
The protein composition of cerebrospinal fluid (CSF) in neural tube defects (NTDs) remains unknown. We investigated the protein composition of CSF from 9 infants with NTDs using isobaric tags for relative and absolute quantitation (iTRAQ). We identified 568 proteins in the CSF of infants with spina bifida, which is the most common type of NTD. Among these, 18 proteins were associated with neural tube closure in the CSF during human embryonic neurulation and 5 were involved in NTDs. Based on these results, an animal model was further utilized to investigate early serum biomarkers for NTDs...
August 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28686331/neural-tube-defects-in-waardenburg-syndrome-a-case-report-and-review-of-the-literature
#19
Joseph Hart, Kalpana Miriyala
Waardenburg syndrome type 1 (WS1) is an autosomal dominant genetic condition characterized by sensorineural deafness and pigment abnormalities, and is caused by variants in the PAX3 homeodomain. PAX3 variants have been associated with severe neural tube defects in mice and humans, but the frequency and clinical manifestations of this symptom remain largely unexplored in humans. Consequently, the role of PAX3 in human neural tube formation remains a study of interest, for clinical as well as research purposes...
July 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28631291/folate-deficiency-disturbs-hsa-let-7-g-level-through-methylation-regulation-in-neural-tube-defects
#20
Li Wang, Shaofang Shangguan, Yu Xin, Shaoyan Chang, Zhen Wang, Xiaolin Lu, Lihua Wu, Bo Niu, Ting Zhang
Folic acid deficiency during pregnancy is believed to be a high-risk factor for neural tube defects (NTDs). Disturbed epigenetic modifications, including miRNA regulation, have been linked to the pathogenesis of NTDs in those with folate deficiency. However, the mechanism by which folic acid-regulated miRNA influences this pathogenesis remains unclear. It is believed that DNA methylation is associated with dysregulated miRNA expression. To clarify this issue, here we measured the methylation changes of 22 miRNAs in 57 human NTD cases to explore whether such changes are involved in miRNA regulation in NTD cases through folate metabolism...
June 19, 2017: Journal of Cellular and Molecular Medicine
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