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https://www.readbyqxmd.com/read/28809021/genetic-manipulation-of-the-avian-urogenital-system-using-in-ovo-electroporation
#1
Claire E Hirst, Olivier Serralbo, Katie L Ayers, Kelly N Roeszler, Craig A Smith
One of the advantages of the avian embryo as an experimental model is its in ovo development and hence accessibility for genetic manipulation. Electroporation has been used extensively in the past to study gene function in chicken and quail embryos . Readily accessible tissues such as the neural tube, somites, and limb bud, in particular, have been targeted. However, more inaccessible tissues, such as the embryonic urogenital system , have proven more challenging to study. Here, we describe the use of in ovo electroporation of TOL2 vectors or RCASBP avian viral vectors for the rapid functional analysis of genes involved in avian sex determination and urogenital development ...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28805617/molecular-cytogenetic-characterization-of-a-duplication-of-15q24-2-q26-2-associated-with-anencephaly-and-neural-tube-defect
#2
Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Chen-Chi Lee, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect (NTD). CASE REPORT: A 35-year-old pregnant woman was found to have a fetus with anencephaly by prenatal ultrasound at 12 weeks of gestation. The pregnancy was subsequently terminated, and a malformed fetus was delivered with anencephaly. Cytogenetic analysis of the cultured placental tissues revealed a karyotype of 46,XX,dup(15) (q24...
August 2017: Taiwanese Journal of Obstetrics & 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
#3
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
#4
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...
August 8, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28798665/maternal-diabetes-alters-expression-of-micrornas-that-regulate-genes-critical-for-neural-tube-development
#5
Seshadri Ramya, Sukanya Shyamasundar, Boon Huat Bay, S Thameem Dheen
Maternal diabetes is known to cause neural tube defects (NTDs) in embryos and neuropsychological deficits in infants. Several metabolic pathways and a plethora of genes have been identified to be deregulated in developing brain of embryos by maternal diabetes, although the exact mechanism remains unknown. Recently, miRNAs have been shown to regulate genes involved in brain development and maturation. Therefore, we hypothesized that maternal diabetes alters the expression of miRNAs that regulate genes involved in biological pathways critical for neural tube development and closure during embryogenesis...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28797054/large-scale-wheat-flour-folic-acid-fortification-program-increases-plasma-folate-levels-among-women-of-reproductive-age-in-urban-tanzania
#6
Ramadhani A Noor, Ajibola I Abioye, Nzovu Ulenga, Salum Msham, George Kaishozi, Nilupa S Gunaratna, Ramadhani Mwiru, Erin Smith, Christina Nyhus Dhillon, Donna Spiegelman, Wafaie Fawzi
There is widespread vitamin and mineral deficiency problem in Tanzania with known deficiencies of at least vitamin A, iron, folate and zinc, resulting in lasting negative consequences especially on maternal health, cognitive development and thus the nation's economic potential. Folate deficiency is associated with significant adverse health effects among women of reproductive age, including a higher risk of neural tube defects. Several countries, including Tanzania, have implemented mandatory fortification of wheat and maize flour but evidence on the effectiveness of these programs in developing countries remains limited...
2017: PloS One
https://www.readbyqxmd.com/read/28796762/notes-from-the-field-zika-virus-associated-neonatal-birth-defects-surveillance-texas-january-2016-july-2017
#7
Noemi Borsay Hall, Kelly Broussard, Nicole Evert, Mark Canfield
On November 28, 2016, the Texas Department of State Health Services (Texas DSHS) reported its first confirmed case of local mosquitoborne Zika virus transmission in the city of Brownsville, located in south Texas along the U.S.-Mexico border. Zika virus infection during pregnancy has been linked to adverse congenital outcomes including microcephaly, neural tube defects, early brain malformations, structural eye abnormalities, congenital deafness, and limb contractures (1). On January 1, 2016, Texas DSHS established enhanced surveillance to identify women with laboratory evidence of possible Zika virus infection during pregnancy and suspected cases of Zika virus-associated birth defects among completed pregnancies...
August 11, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28795440/single-site-neural-tube-closure-in-human-embryos-revisited
#8
Bernadette S de Bakker, Stan Driessen, Bastiaan Jd Boukens, Maurice Jh van den Hoff, Roelof-Jan Oostra
Introduction 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
#9
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/28791750/histone-deacetylase-1-and-2-are-essential-for-murine-neural-crest-proliferation-pharyngeal-arch-development-and-craniofacial-morphogenesis
#10
Zachary J Milstone, Grace Lawson, Chinmay M Trivedi
BACKGROUND: Craniofacial anomalies involve defective pharyngeal arch development and neural crest function. Copy number variation at 1p35, containing histone deacetylase 1 (Hdac1), or 6q21-22, containing Hdac2, are implicated in patients with craniofacial defects, suggesting an important role in guiding neural crest development. However, the roles of Hdac1 and Hdac2 within neural crest cells remain unknown. RESULTS: The neural crest and its derivatives express both Hdac1 and Hdac2 during early murine development...
August 9, 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/28791646/studying-nonproliferative-roles-for-egfr-signaling-in-tissue-morphogenesis-using-dorsal-closure-of-the-drosophila-embryo
#11
Bruce Reed, Nicholas Harden
For several decades, genetic analysis in Drosophila has made important contributions to the understanding of signaling by Egfr. Egfr has been well characterized with regard to its oncogenic potential but is also being studied for its roles in organismal development. We have recently developed dorsal closure of the Drosophila embryo as a system for characterizing Egfr regulation of events that do not involve proliferation, as no cell divisions occur during this process. Dorsal closure is essentially a developmental wound healing event with parallels to vertebrate developmental epithelial fusions such as neural tube closure and palate fusion...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28770950/prevention-of-neural-tube-defects-and-maternal-gestational-diabetes-through-the-inositol-supplementation-preliminary-results
#12
D Dell'Edera, F Sarlo, A Allegretti, A A Epifania, F Simone, M G Lupo, M Benedetto, M R D'Apice, A Capalbo
OBJECTIVE: Our study aims to demonstrate that the use in the preconceptional period until the 24th week of pregnancy of inositol and folic acid, first of all, preserves the product of conception from neural tube defects (NTDs) and then, thanks to inositol supplementation, it possibly counteracts and prevents the onset of maternal gestational diabetes (GDM). PATIENTS AND METHODS: We have collected data derived from pregnant women arrived at our laboratory, from January 2014 to January 2016, with no family history of type 2 diabetes and hypertension...
July 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28770393/association-of-neural-tube-defects-with-gene-polymorphisms-in-one-carbon-metabolic-pathway
#13
Lirong Cao, Yizheng Wang, Ruiping Zhang, Liang Dong, Hualei Cui, Yulian Fang, Linsheng Zhao, Ouyan Shi, Chunquan Cai
PURPOSE: Neural tube defects (NTDs) are common congenital malformations. In this study, we aimed to explore the association between single nucleotide polymorphisms (SNPs) related to one-carbon metabolism (OCM) and NTDs in Han population of Northern China. METHODS: A case-control study was conducted in 152 children with NTDs and 169 controls. Twenty-nine SNPs in five genes were genotyped by Sequenom MassARRAY technology, and haplotype analysis was done by Haploview4...
August 2, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28766872/population-based-case-control-study-of-the-association-between-weather-related-extreme-heat-events-and-neural-tube-defects
#14
Aida Soim, Shao Lin, Scott C Sheridan, Syni-An Hwang, Wan-Hsiang Hsu, Thomas J Luben, Gary M Shaw, Marcia L Feldkamp, Paul A Romitti, Jennita Reefhuis, Peter H Langlois, Marilyn L Browne
BACKGROUND: Elevated body core temperature has been shown to have teratogenic effects in animal studies. Our study evaluated the association between weather-related extreme heat events (EHEs) in the summer season and neural tube defects (NTDs), and further investigated whether pregnant women with a high pregestational body mass index (BMI) have a greater risk of having a child with NTDs associated with exposure to EHE than women with a normal BMI. METHODS: We conducted a population-based case-control study among mothers of infants with NTDs and mothers of infants without major birth defects, who participated in the National Birth Defects Prevention Study and had at least 1 day of the third or fourth week postconception during summer months...
August 2, 2017: Birth defects research
https://www.readbyqxmd.com/read/28765531/neuronal-patterning-of-the-tubular-collar-cord-is-highly-conserved-among-enteropneusts-but-dissimilar-to-the-chordate-neural-tube
#15
Sabrina Kaul-Strehlow, Makoto Urata, Daniela Praher, Andreas Wanninger
A tubular nervous system is present in the deuterostome groups Chordata (cephalochordates, tunicates, vertebrates) and in the non-chordate Enteropneusta. However, the worm-shaped enteropneusts possess a less complex nervous system featuring only a short hollow neural tube, whereby homology to its chordate counterpart remains elusive. Since the majority of data on enteropneusts stem from the harrimaniid Saccoglossus kowalevskii, putative interspecific variations remain undetected resulting in an unreliable ground pattern that impedes homology assessments...
August 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28765025/congenital-malformations-of-the-central-nervous-system-in-rural-western-honduras-a-6-year-report-on-trends
#16
Dagoberto Estevez-Ordonez, Michael C Dewan, Michael J Feldman, Eleazar E Montalvan-Sanchez, Daniela M Montalvan-Sanchez, Aida A Rodriguez-Murillo, Samuel A Urrutia-Argueta, Charlotte B Cherry, Douglas R Morgan, Roberto Alvarez-Rodriguez, Christopher M Bonfield
BACKGROUND: Central nervous system (CNS) malformations including neural tube defects (NTDs) are the second most common type of birth defects world-wide, and are major causes of childhood disability and mortality. We report the first analysis of prevalence in Western Honduras of CNS malformations including NTDs over six consecutive years. METHODS: Data from all patients with congenital CNS malformations and total live births between 2010 and 2015 were obtained through institution and regional registries from all three public referral hospitals in Western Honduras, representing 67 municipalities...
July 29, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28763666/are-concentrations-of-alkaline-earth-elements-in-maternal-hair-associated-with-risk-of-neural-tube-defects
#17
Zhenjiang Li, Bin Wang, Wenhua Huo, Yingying Liu, Yibing Zhu, Jing Xie, Zhiwen Li, Aiguo Ren
The relationship between maternal intake of alkaline earth elements (AEEs) during the period of neural tube closure and the risk of neural tube defects (NTDs) is still unclear. We propose that AEE deficiency during the early period of pregnancy is associated with an elevated risk of NTDs in the offspring. In this study, we recruited 191 women with NTD-affected pregnancies (cases) and 261 women who delivered healthy infants (controls). The concentrations of four AEEs (Ca, Mg, Sr, Ba) in maternal hair sections that grew during early pregnancy were analyzed...
July 28, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28762673/interaction-between-maternal-and-paternal-shmt1-c1420t-predisposes-to-neural-tube-defects-in-the-fetus-evidence-from-case-control-and-family-based-triad-approaches
#18
Prasoona K Rebekah, Sunitha Tella, Srinadh Buragadda, Muni Kumari Tiruvatturu, Jyothy Akka
BACKGROUND: Neural tube defects (NTDs) are caused by the failure of neural tube formation which occurs during early embryonic development. NTDs are the most severe and leading cause of fetal mortality. Serine hydroxymethyl transferase (SHMT1) provides one-carbon units necessary for embryogenesis and defects in one-carbon production result in specific pathological conditions during pregnancy. The present study is aimed to evaluate the association of SHMT1 C1420T with NTD risk in the fetus using fetal, maternal and paternal groups by applying both case-control and family-based triad approaches...
July 17, 2017: Birth defects research
https://www.readbyqxmd.com/read/28757169/mir-29b-mediates-the-neural-tube-versus-neural-crest-fate-decision-during-embryonic-stem-cell-neural-differentiation
#19
Jiajie Xi, Yukang Wu, Guoping Li, Li Ma, Ke Feng, Xudong Guo, Wenwen Jia, Guiying Wang, Guang Yang, Ping Li, Jiuhong Kang
During gastrulation, the neuroectoderm cells form the neural tube and neural crest. The nervous system contains significantly more microRNAs than other tissues, but the role of microRNAs in controlling the differentiation of neuroectodermal cells into neural tube epithelial (NTE) cells and neural crest cells (NCCs) remains unknown. Using embryonic stem cell (ESC) neural differentiation systems, we found that miR-29b was upregulated in NTE cells and downregulated in NCCs. MiR-29b promoted the differentiation of ESCs into NTE cells and inhibited their differentiation into NCCs...
August 8, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28752929/progesterone-mediated-angiogenic-activity-of-endothelial-progenitor-cell-and-angiogenesis-in-traumatic-brain-injury-rats-were-antagonized-by-progesterone-receptor-antagonist
#20
Peng Yu, Shengjie Li, Zhifei Zhang, Xiaolong Wen, Wei Quan, Qilong Tian, Chuang Gao, Wanqiang Su, Jianning Zhang, Rongcai Jiang
OBJECTIVES: Progesterone (P4) has the potential therapeutic effects for traumatic brain injury (TBI) whose recovery depended on the enhanced angiogenesis. Endothelial progenitor cell (EPC) plays an essential role in vascular biology. We previously demonstrated that P4 administration improved circulating EPC level and neurological recovery of rat with TBI. Here, we hypothesized that P4 augmented angiogenic potential of EPC and the angiogenesis-related neurorestoration after TBI through classical progesterone receptor (PR)...
July 28, 2017: Cell Proliferation
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