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https://www.readbyqxmd.com/read/28344782/la-related-protein-6-controls-ciliated-cell-differentiation
#1
Zarko Manojlovic, Ryan Earwood, Akiko Kato, Diana Perez, Oscar A Cabrera, Ruth Didier, Timothy L Megraw, Branko Stefanovic, Yoichi Kato
BACKGROUND: La-related protein 6 (LARP6) is an evolutionally conserved RNA-binding protein. Vertebrate LARP6 binds the 5' stem-loop found in mRNAs encoding type I collagen to regulate their translation, but other target mRNAs and additional functions for LARP6 are unknown. The aim of this study was to elucidate an additional function of LARP6 and to evaluate the importance of its function during development. METHODS: To uncover the role of LARP6 in development, we utilized Morpholino Oligos to deplete LARP6 protein in Xenopus embryos...
2017: Cilia
https://www.readbyqxmd.com/read/28341857/embryonic-defence-mechanisms-against-glucose-dependent-oxidative-stress-require-enhanced-expression-of-alx3-to-prevent-malformations-during-diabetic-pregnancy
#2
Patricia GarcĂ­a-Sanz, Mercedes Mirasierra, Rosario Moratalla, Mario Vallejo
Oxidative stress constitutes a major cause for increased risk of congenital malformations associated to severe hyperglycaemia during pregnancy. Mutations in the gene encoding the transcription factor ALX3 cause congenital craniofacial and neural tube defects. Since oxidative stress and lack of ALX3 favour excessive embryonic apoptosis, we investigated whether ALX3-deficiency further increases the risk of embryonic damage during gestational hyperglycaemia in mice. We found that congenital malformations associated to ALX3-deficiency are enhanced in diabetic pregnancies...
March 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28340616/lacking-of-palladin-leads-to-multiple-cellular-events-changes-which-contribute-to-ntd
#3
Juan Tan, Xue-Jiao Chen, Chun-Ling Shen, Hong-Xin Zhang, Ling-Yun Tang, Shun-Yuan Lu, Wen-Ting Wu, Ying Kuang, Jian Fei, Zhu-Gang Wang
BACKGROUND: The actin cytoskeleton-associated protein palladin plays an important role in cell motility, morphogenesis and adhesion. In mice, Palladin deficient embryos are lethal before embryonic day (E) 15.5, and exhibit severe cranial neural tube and body wall closure defects. However, the mechanism how palladin regulates the process of cranial neural tube closure (NTC) remains unknown. METHODS: In this paper, we use gene knockout mouse to elucidate the function of palladin in the regulation of NTC process...
March 24, 2017: Neural Development
https://www.readbyqxmd.com/read/28337978/microrna-filters-hox-temporal-transcription-noise-to-confer-boundary-formation-in-the-spinal-cord
#4
Chung-Jung Li, Tian Hong, Ying-Tsen Tung, Ya-Ping Yen, Ho-Chiang Hsu, Ya-Lin Lu, Mien Chang, Qing Nie, Jun-An Chen
The initial rostrocaudal patterning of the neural tube leads to differential expression of Hox genes that contribute to the specification of motor neuron (MN) subtype identity. Although several 3' Hox mRNAs are expressed in progenitors in a noisy manner, these Hox proteins are not expressed in the progenitors and only become detectable in postmitotic MNs. MicroRNA biogenesis impairment leads to precocious expression and propagates the noise of Hoxa5 at the protein level, resulting in an imprecise Hoxa5-Hoxc8 boundary...
March 24, 2017: Nature Communications
https://www.readbyqxmd.com/read/28334810/bimodal-regulation-of-dishevelled-function-by-vangl2-during-morphogenesis
#5
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/28332491/corrigendum-endocytic-recycling-protein-ehd1-regulates-primary-cilia-morphogenesis-and-shh-signaling-during-neural-tube-development
#6
Sohinee Bhattacharyya, Mark A Rainey, Priyanka Arya, Bhopal C Mohapatra, Insha Mushtaq, Samikshan Dutta, Manju George, Matthew D Storck, Rodney D McComb, David Muirhead, Gordon L Todd, Karen Gould, Kaustubh Datta, Janee Gelineau-van Waes, Vimla Band, Hamid Band
No abstract text is available yet for this article.
March 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28322736/sall1-and-sall4-repress-pou5f3-family-expression-to-allow-neural-patterning-differentiation-and-morphogenesis-in-xenopus-laevis
#7
Cameron R T Exner, Albert Y Kim, Sarah M Mardjuki, Richard M Harland
The embryonic precursor of the vertebrate central nervous system, the neural plate, is patterned along the anterior-posterior axis and shaped by morphogenetic movements early in development. We previously identified the genes sall1 and sall4, known regulators of pluripotency in other contexts, as transcriptional targets of developmental signaling pathways that regulate neural development. Here, we demonstrate that these two genes are required for induction of posterior neural fates, the cell shape changes that contribute to neural tube closure, and later neurogenesis...
March 18, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28321127/ancient-evolutionary-origin-of-vertebrate-enteric-neurons-from-trunk-derived-neural-crest
#8
Stephen A Green, Benjamin R Uy, Marianne E Bronner
The enteric nervous system of jawed vertebrates arises primarily from vagal neural crest cells that migrate to the foregut and subsequently colonize and innervate the entire gastrointestinal tract. Here we examine development of the enteric nervous system in the basal jawless vertebrate the sea lamprey (Petromyzon marinus) to gain insight into its evolutionary origin. Surprisingly, we find no evidence for the existence of a vagally derived enteric neural crest population in the lamprey. Rather, labelling with the lipophilic dye DiI shows that late-migrating cells, originating from the trunk neural tube and associated with nerve fibres, differentiate into neurons within the gut wall and typhlosole...
March 20, 2017: Nature
https://www.readbyqxmd.com/read/28304136/zebrafish-models-of-non-canonical-wnt-planar-cell-polarity-signalling-fishing-for-valuable-insight-into-vertebrate-polarized-cell-behavior
#9
REVIEW
Maria Jussila, Brian Ciruna
Planar cell polarity (PCP) coordinates the uniform orientation, structure and movement of cells within the plane of a tissue or organ system. It is beautifully illustrated in the polarized arrangement of bristles and hairs that project from specialized cell surfaces of the insect abdomen and wings, and pioneering genetic studies using the fruit fly, Drosophila melanogaster, have defined a core signalling network underlying PCP. This core PCP/non-canonical Wnt signalling pathway is evolutionarily conserved, and studies in zebrafish have helped transform our understanding of PCP from a peculiarity of polarized epithelia to a more universal cellular property that orchestrates a diverse suite of polarized cell behaviors that are required for normal vertebrate development...
March 17, 2017: Wiley Interdisciplinary Reviews. Developmental Biology
https://www.readbyqxmd.com/read/28300884/congenital-hemangioma-in-spondylocostal-dysostosis-a-novel-association
#10
Victor Michael Salinas-Torres
Congenital hemangioma is a benign tumor caused by dysfunction in embryogenesis and vasculogenesis, which progresses during fetal life to manifest as fully developed at birth. Although hemangiomas are the most common tumor of infancy, rapidly involuting congenital hemangioma has not been described in spondylocostal dysostosis. I report the novel association of congenital hemangioma and spondylocostal dysostosis in a Mexican newborn female patient with neural tube defects. Given the embryological relationship between skin and nervous system, I surmise that this association is not coincidental...
September 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28295633/neural-tube-closure-and-embryonic-metabolism
#11
REVIEW
Yoshifumi Yamaguchi, Hidenobu Miyazawa, Masayuki Miura
Neural tube closure (NTC) is an embryonic process during formation of the mammalian central nervous system. Disruption of the dynamic, sequential events of NTC can cause neural tube defects (NTD) leading to spina bifida and anencephaly in the newborn. NTC is affected by inherent factors such as genetic mutation or if the mother is exposed to certain environmental factors such as intake of harmful chemicals, maternal infection, irradiation, malnutrition, and inadequate or excessive intake of specific nutrients...
March 13, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28286691/spina-bifida-pathogenesis-mechanisms-and-genes-in-mice-and-humans
#12
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/28285380/urological-outcomes-of-myelomeningocele-and-lipomeningocele
#13
REVIEW
Yvonne Y Chan, Samantha K Sandlin, Eric A Kurzrock
PURPOSE OF REVIEW: Spina bifida is caused by incomplete neural tube closure during the first trimester. This condition may lead to bowel and bladder dysfunction as well as truncal weakness and motor anomalies. Presentations vary between myelomeningoceles and lipomeningoceles and may result in different outcomes. This review seeks to explore our current understanding of the variations in outcomes between individuals with myelomeningocele and lipomeningocele. RECENT FINDINGS: Prenatal intervention has become a standard of care for prenatal diagnoses of myelomeningocele and has been shown to reduce shunt placement and improve motor skills...
May 2017: Current Urology Reports
https://www.readbyqxmd.com/read/28280513/spectrum-of-congenital-anomalies-among-surgical-patients-at-a-tertiary-care-centre-over-4-years
#14
Arushi Agarwal, K N Rattan, Ankur Dhiman, Ananta Rattan
Introduction. Congenital anomalies are important causes of childhood death, chronic illness, and disability in many countries. Congenital malformations are rapidly emerging as one of the major worldwide problems. Aim. To study the percentage of various congenital anomalies among the patients admitted in Department of Pediatric Surgery at a tertiary care centre over a period of four years from 2011 to 2015 in our centre. Results. Neural tube defects were found to be the most common anomalies in 24.3% of the children admitted...
2017: International Journal of Pediatrics
https://www.readbyqxmd.com/read/28277363/fetoscopic-open-neural-tube-defect-repair-development-and-refinement-of-a-two-port-carbon-dioxide-insufflation-technique
#15
Michael A Belfort, William E Whitehead, Alireza A Shamshirsaz, Zhoobin H Bateni, Oluyinka O Olutoye, Olutoyin A Olutoye, David G Mann, Jimmy Espinoza, Erin Williams, Timothy C Lee, Sundeep G Keswani, Nancy Ayres, Christopher I Cassady, Amy R Mehollin-Ray, Magdalena Sanz Cortes, Elena Carreras, Jose L Peiro, Rodrigo Ruano, Darrell L Cass
OBJECTIVE: To describe development of a two-port fetoscopic technique for spina bifida repair in the exteriorized, carbon dioxide-filled uterus and report early results of two cohorts of patients: the first 15 treated with an iterative technique and the latter 13 with a standardized technique. METHODS: This was a retrospective cohort study (2014-2016). All patients met Management of Myelomeningocele Study selection criteria. The intraoperative approach was iterative in the first 15 patients and was then standardized...
April 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28276201/rare-deleterious-variants-in-grhl3-are-associated-with-human-spina-bifida
#16
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/28275953/design-and-comparative-evaluation-of-the-anticonvulsant-profile-carbonic-anhydrate-inhibition-and-teratogenicity-of-novel-carbamate-derivatives-of-branched-aliphatic-carboxylic-acids-with-4-aminobenzensulfonamide
#17
David Bibi, Hafiz Mawasi, Alessio Nocentini, Claudiu T Supuran, Bogdan Wlodarczyk, Richard H Finnell, Meir Bialer
Epilepsy is one of the most common neurological diseases, with between 34 and 76 per 100,000 people developing epilepsy annually. Epilepsy therapy for the past 100(+) years is based on the use of antiepileptic drugs (AEDs). Despite the availability of more than twenty old and new AEDs, approximately 30% of patients with epilepsy are not seizure-free with the existing medications. In addition, the clinical use of the existing AEDs is restricted by their side-effects, including the teratogenicity associated with valproic acid that restricts its use in women of child-bearing age...
March 9, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28268375/directing-the-spatial-patterning-of-motor-neuron-differentiation-in-engineered-microenvironments
#18
Christopher J Demers, Greg Cox, Scott D Collins, Rosemary L Smith
Embryonic development of the spinal cord proceeds through a carefully orchestrated temporal and spatial sequence of chemical cues to provide precise patterning of adult cell types. Recreating this complex microenvironment in a standard cell culture dish is difficult, if not impossible. In this paper, a microfluidic device is used to recapitulate, in vitro, the graded patterning events which occur during early spinal cord development. The microdevice design is developed using COMSOL modeling, with which the spatiotemporal profiles of multiple, diffusible morphogens are simulated...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28266124/proposal-for-supplemental-intake-of-folic-acid-to-reduce-the-risk-of-neural-tube-defects
#19
(no author information available yet)
No abstract text is available yet for this article.
March 2017: Congenital Anomalies
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
#20
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
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