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https://www.readbyqxmd.com/read/29903435/cerebellar-networks-and-neuropathology-of-cerebellar-developmental-disorders
#1
Harvey B Sarnat
The cerebellar system is a series of axonal projections and synaptic circuits as networks, similar to those of the limbic system and those subserving the propagation and spread of seizures. Three principal cerebellar networks are identified and cerebellar disease often affects components of the networks other than just the cerebellar cortex. Contemporary developmental neuropathology of the cerebellum is best considered in the context of alterations of developmental processes: embryonic segmentation and genetic gradients along the three axes of the neural tube, individual neuronal and glial cell differentiation, migration, synaptogenesis, and myelination...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29899771/missing-links-between-genetically-inherited-molecules-in-split-cord-malformation-and-other-anomaly-a-bench-to-bedside-approach
#2
Mayadhar Barik, Pravash R Mishra, Ashok Kumar Mohapatra
Aim: Split cord malformation (SCM) is associated with extensive vertebral fusions (Klippel-Feil anomaly). In light of previous embryological theories and recent research findings, we attempt to document the origin of split cord, and vertebral fusions involvement of spectrum of genes is necessary to know better the etiopathogenesis of SCM and its associated diseases. Materials and Methods: We used the various databases such as PubMed/MEDLINE, Cochrane Review, Hinari, and Google Scholar for the recently published medical literature...
January 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29859881/is-post-exposure-prevention-of-teratogenic-damage-possible-studies-on-diabetes-valproic-acid-alcohol-and-anti-folates-in-pregnancy-animal-studies-with-reflection-to-human
#3
REVIEW
Asher Ornoy, Gideon Koren, Joseph Yanai
We discuss the possibilities to prevent the post-exposure teratogenic effects of several teratogens: valproic acid (VPA), diabetes and alcohol. Co-administration of folic acid with VPA reduced the rate of Neural Tube Defects (NTD) and other anomalies in rodents, but apparently not in pregnant women. Antioxidants or the methyl donor S-adenosyl methionine prevented Autism Spectrum Disorder (ASD) like behavior in mice and rats. In vivo and in vitro studies demonstrated that antioxidants, arachidonic acid, myoinositol and nutritional agents may prevent diabetes-embryopathy...
May 31, 2018: Reproductive Toxicology
https://www.readbyqxmd.com/read/29751775/cxcl12-engineered-endothelial-progenitor-cells-enhance-neurogenesis-and-angiogenesis-after-ischemic-brain-injury-in-mice
#4
Yaning Li, Shuang Chang, Wanlu Li, Guanghui Tang, Yuanyuan Ma, Yanqun Liu, Fang Yuan, Zhijun Zhang, Guo-Yuan Yang, Yongting Wang
BACKGROUND: Ischemic stroke causes a multitude of brain damage. Neurovascular injury and myelin sheath degradation are two manifestations of ischemic brain damage. Therapeutic strategies aiming only at repairing the neural components or the vessels cannot efficiently restore neurological function. Endothelial progenitor cells (EPCs) have the advantages of both promoting angiogenesis and secreting trophic factors that would promote neurogenesis. Chemokine cxcl12 gene therapy has also been shown to promote angiogenesis, neurogenesis, and remyelination, attracting EPCs, neural progenitor cells, and oligodendrocyte progenitor cells (OPCs) to the injured sites of the brain...
May 11, 2018: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/29728895/lrp2-gene-variants-and-their-haplotypes-strongly-influence-the-risk-of-developing-neural-tube-defects-in-the-fetus-a-family-triad-study-from-south-india
#5
Rebekah Prasoona K, Sunitha T, Srinadh B, Muni Kumari T, Jyothy A
Neural tube defects (NTDs) are the leading cause of infant deaths worldwide. Lipoprotein related receptor 2 (LRP2) has been shown to play a crucial role in neural tube development in mouse models. However, the role of LRP2 gene in the development of human NTDs is not yet known. In view of this, family-based triad approach has been followed considering 924 subjects comprising 124 NTD case-parent trios and 184 control-parent trios diagnosed at Institute of Genetics and Hospital for Genetic Diseases, Hyderabad...
May 4, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29727300/rab23-and-developmental-disorders
#6
Catherine H H Hor, Bor Luen Tang, Eyleen L K Goh
Rab23 is a conserved member of the Rab family of small GTPases that regulates membrane trafficking in eukaryotes. It is unique amongst the Rabs in terms of its implicated role in mammalian development, as originally illustrated by the embryonic lethality and open neural tube phenotype of a spontaneous mouse mutant that carries homozygous mutation of open brain, a gene encoding Rab23. Rab23 was initially identified to act as an antagonist of Sonic hedgehog (Shh) signaling, and has since been implicated in a number of physiological and pathological roles, including oncogenesis...
May 4, 2018: Reviews in the Neurosciences
https://www.readbyqxmd.com/read/29725084/loss-of-tctn3-causes-neuronal-apoptosis-and-neural-tube-defects-in-mice
#7
Bin Wang, Yingying Zhang, Hongli Dong, Siyi Gong, Bin Wei, Man Luo, Hongyan Wang, Xiaohui Wu, Wei Liu, Xingshun Xu, Yufang Zheng, Miao Sun
Tctn3 belongs to the Tectonic (Tctn) family and is a single-pass membrane protein localized at the transition zone of primary cilia as an important component of ciliopathy-related protein complexes. Previous studies showed that mutations in Tctn1 and Tctn2, two members of the tectonic family, have been reported to disrupt neural tube development in humans and mice, but the functions of Tctn3 in brain development remain elusive. In this study, Tctn3 knockout (KO) mice were generated by utilizing the piggyBac (PB) transposon system...
May 3, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29701077/a-combination-of-nt-4-5-and-gdnf-is-favorable-for-cultured-human-nigral-neural-progenitor-cells
#8
Stefano Di Santo, Morten Meyer, Angélique D Ducray, Lukas Andereggen, Hans R Widmer
Idiopathic Parkinson's disease (PD) is a progressive neurodegenerative disorder, clinically manifested by cardinal motor symptoms including tremor at rest, bradykinesia, and muscle rigidity. Transplantation of dopaminergic (DAergic) neurons is an experimental therapy for PD, however, it is limited by suboptimal integration and low survival of grafts. Pretreatment of donor tissue may offer a strategy to improve properties of transplanted DAergic neurons and thereby clinical outcome. We have previously shown that a combination of neurotrophin-4/5 (NT-4/5) and glial cell line-derived neurotrophic factor (GDNF) demonstrated additive effects on rat ventral mesencephalic (VM) tissue...
January 1, 2018: Cell Transplantation
https://www.readbyqxmd.com/read/29693124/regulation-of-the-expression-of-tumor-necrosis-factor%C3%A2-related-genes-by-abnormal-histone-h3k27-acetylation-implications-for-neural-tube-defects
#9
Chunlei Wan, Xiaozhen Liu, Baoling Bai, Haiyan Cao, Huili Li, Qin Zhang
The association between apoptosis and neural tube defects (NTDs) is recognized as important, however, the precise link remains to be elucidated. Epigenetic modifications in human NTDs have been detected previously. In the present study, the occurrence of epigenetic modifications in apoptosis‑related genes was investigated in a retinoic acid (RA)‑induced mouse NTD model. Among 84 key genes involved in programmed cell death, 13 genes, including tumor necrosis factor (Tnf), annexin A5, apoptosis inhibitor 5, Bcl2‑associated athanogene 3, baculoviral IAP repeat‑containing 3, caspase (Casp)12, Casp4, Casp8, lymphotoxin β receptor, NLR family, apoptosis inhibitory protein 2, TNF receptor superfamily (Tnfrsf)1a, TNF superfamily (Tnfs)f10 and Tnfsf12, were downregulated, whereas nucleolar protein 3 was upregulated in the RA‑induced NTD mice...
June 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29681545/nf-%C3%AE%C2%BAb-activity-initiates-human-esc-derived-neural-progenitor-cell-differentiation-by-inducing-a-metabolic-maturation-program
#10
Lorna M FitzPatrick, Kate E Hawkins, Juliette M K M Delhove, Emilio Fernandez, Chiara Soldati, Louise F Bullen, Axel Nohturfft, Simon N Waddington, Diego L Medina, Juan P Bolaños, Tristan R McKay
Human neural development begins at embryonic day 19 and marks the beginning of organogenesis. Neural stem cells in the neural tube undergo profound functional, morphological, and metabolic changes during neural specification, coordinated by a combination of exogenous and endogenous cues. The temporal cell signaling activities that mediate this process, during development and in the postnatal brain, are incompletely understood. We have applied gene expression studies and transcription factor-activated reporter lentiviruses during in vitro neural specification of human pluripotent stem cells...
June 5, 2018: Stem Cell Reports
https://www.readbyqxmd.com/read/29669275/zika-virus-can-strongly-infect-and-disrupt-secondary-organizers-in-the-ventricular-zone-of-the-embryonic-chicken-brain
#11
Ankita Thawani, Devika Sirohi, Richard J Kuhn, Donna M Fekete
Zika virus (ZIKV) is associated with severe neurodevelopmental impairments in human fetuses, including microencephaly. Previous reports examining neural progenitor tropism of ZIKV in organoid and animal models did not address whether the virus infects all neural progenitors uniformly. To explore this, ZIKV was injected into the neural tube of 2-day-old chicken embryos, resulting in nonuniform periventricular infection 3 days later. Recurrent foci of intense infection were present at specific signaling centers that influence neuroepithelial patterning at a distance through secretion of morphogens...
April 17, 2018: Cell Reports
https://www.readbyqxmd.com/read/29668043/folate-deficiency-increases-chromosomal-damage-and-mutations-in-hematopoietic-cells-in-the-transgenic-mutamouse-model
#12
Danielle P LeBlanc, Nathalie A Behan, Jason M O'Brien, Francesco Marchetti, Amanda J MacFarlane
Folate deficiency causes megaloblastic anemia and neural tube defects, and is also associated with some cancers. In vitro, folate deficiency increases mutation frequency and genome instability, as well as exacerbates the mutagenic potential of known environmental mutagens. Conversely, it remains unclear whether or not elevated folic acid (FA) intakes are beneficial or detrimental to the induction of DNA mutations and by proxy human health. We used the MutaMouse transgenic model to examine the in vivo effects of FA deficient, control, and supplemented diets on somatic DNA mutant frequency (MF) and genome instability in hematopoietic cells...
April 18, 2018: Environmental and Molecular Mutagenesis
https://www.readbyqxmd.com/read/29666258/formate-rescues-neural-tube-defects-caused-by-mutations-in-slc25a32
#13
Jimi Kim, Yunping Lei, Jin Guo, Sung-Eun Kim, Bogdan J Wlodarczyk, Robert M Cabrera, Ying Linda Lin, Torbjorn K Nilsson, Ting Zhang, Aiguo Ren, Linlin Wang, Zhengwei Yuan, Yu-Fang Zheng, Hong-Yan Wang, Richard H Finnell
Periconceptional folic acid (FA) supplementation significantly reduces the prevalence of neural tube defects (NTDs). Unfortunately, some NTDs are FA resistant, and as such, NTDs remain a global public health concern. Previous studies have identified SLC25A32 as a mitochondrial folate transporter (MFT), which is capable of transferring tetrahydrofolate (THF) from cellular cytoplasm to the mitochondria in vitro. Herein, we show that gene trap inactivation of Slc25a32 ( Mft ) in mice induces NTDs that are folate (5-methyltetrahydrofolate, 5-mTHF) resistant yet are preventable by formate supplementation...
May 1, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29618362/genetic-analysis-of-wnt-pcp-genes-in-neural-tube-defects
#14
Zhongzhong Chen, Yunping Lei, Xuanye Cao, Yufang Zheng, Fang Wang, Yihua Bao, Rui Peng, Richard H Finnell, Ting Zhang, Hongyan Wang
BACKGROUND: Mouse homozygous mutants in Wnt/planar cell polarity (PCP) pathway genes have been shown to cause neural tube defects (NTDs) through the disruption of normal morphogenetic processes critical to neural tube closure (NTC). Knockout mice that are heterozygotes of single PCP genes likely fail to produce NTD phenotypes, yet damaging variants detected in human NTDs are almost always heterozygous, suggesting that other deleterious interacting variants are likely to be present. Nonetheless, the Wnt/PCP pathway remains a genetic hotspot...
April 4, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29615496/crispr-cas9-mediated-genomic-editing-of-cluap1-ift38-reveals-a-new-role-in-actin-arrangement
#15
Tina Beyer, Sylvia Bolz, Katrin Junger, Nicola Horn, Muhammad Moniruzzaman, Yasmin Wissinger, Marius Ueffing, Karsten Boldt
CRISPR/Cas9-mediated gene editing allows manipulation of a gene of interest in its own chromosomal context. When applied to the analysis of protein interactions, and in contrast to exogenous expression of a protein, this can be studied maintaining physiological stoichiometry, topology and context. We have used CRISPR/Cas9-mediated genomic editing to investigate Cluap1/ IFT38, a component of the intraflagellar transport complex B (IFT-B). Cluap1 has been implicated in human development as well as in cancer progression...
April 3, 2018: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/29596925/association-of-pesticide-exposure-with-human-congenital-abnormalities
#16
REVIEW
Charikleia Kalliora, Charalampos Mamoulakis, Eleni Vasilopoulos, George A Stamatiades, Lydia Kalafati, Roza Barouni, Triantafyllia Karakousi, Mohammad Abdollahi, Aristidis Tsatsakis
Human pesticide exposure can occur both occupationally and environmentally during manufacture and after the application of indoor and outdoor pesticides, as well as through consumption via residues in food and water. There is evidence from experimental studies that numerous pesticides, either in isolation or in combination, act as endocrine disruptors, neurodevelopmental toxicants, immunotoxicants, and carcinogens. We reviewed the international literature on this subject for the years between 1990 and 2017...
May 1, 2018: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/29590636/vangl2-disruption-alters-the-biomechanics-of-late-spinal-neurulation-leading-to-spina-bifida-in-mouse-embryos
#17
Gabriel L Galea, Oleksandr Nychyk, Matteo A Mole, Dale Moulding, Dawn Savery, Evanthia Nikolopoulou, Deborah J Henderson, Nicholas D E Greene, Andrew J Copp
Human mutations in the planar cell polarity component VANGL2 are associated with the neural tube defect spina bifida. Homozygous Vangl2 mutation in mice prevents initiation of neural tube closure, precluding analysis of its subsequent roles in neurulation. Spinal neurulation involves rostral-to-caudal 'zippering' until completion of closure is imminent, when a caudal-to-rostral closure point, 'Closure 5', arises at the caudal-most extremity of the posterior neuropore (PNP). Here, we used Grhl3Cre to delete Vangl2 in the surface ectoderm (SE) throughout neurulation and in an increasing proportion of PNP neuroepithelial cells at late neurulation stages...
March 21, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29574166/stem-cells-from-apical-papilla-promote-differentiation-of-human-pluripotent-stem-cells-towards-retinal-cells
#18
Fereshteh Karamali, Mohammad-Hossein Nasr Esfahani, Sara Taleahmad, Leila Satarian, Hossein Baharvand
Recently, we have found that human stem cells from apical papilla (SCAP) show a stromal cell-derived inducing activity (SDIA). To examine SDIA competence for retinal cells differentiation, we co-cultured SCAP with human pluripotent stem cells (hPSCs). In comparison with Matrigel-cultured hPSCs, SCAP significantly induces hPSCs to differentiate into rostral neural cells as demonstrated by upregulation of OTX2 and PAX6 and down-regulation of EN1, HOXB4 and HOXC8. Furthermore, the differentiated cells on SCAP significantly expressed eye-field markers, RAX, PAX6, LHX2 and SIX3 and showed five folds pigmented colonies...
March 2, 2018: Differentiation; Research in Biological Diversity
https://www.readbyqxmd.com/read/29573971/digenic-variants-of-planar-cell-polarity-genes-in-human-neural-tube-defect-patients
#19
Linlin Wang, Yanhui Xiao, Tian Tian, Lei Jin, Yunping Lei, Richard H Finnell, Aiguo Ren
Neural tube defects (NTDs) are considered to be a complex genetic disorder, although the identity of the genetic factors remains largely unknown. Mouse model studies suggest a multifactorial oligogenic pattern of inheritance for NTDs, yet evidence from published human studies is surprisingly absent. In the present study, targeted next-generation sequencing was performed to screen for DNA variants in the entire coding regions and intron-exon boundaries of targeted genes using DNA samples from 510 NTD cases. These candidate genes were PCP genes, including VANGL1, VANGL2, CELSR1, SCRIB, DVL2, DVL3 and PTK7...
May 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29567070/identification-of-duplicated-midkine-genes-and-their-functional-regulation-in-blunt-snout-bream-megalobrama-amblycephala
#20
Dan-Dan Guo, Guo-Dong Zheng, Shang-Ke Du, Bo Qin, Xia-Yun Jiang, Shu-Ming Zou
Midkine (Mdk) is a heparin-binding growth factor that is involved in regulating cell growth, differentiation and migration. Here, we report the isolation and characterization of duplicated mdk genes in blunt snout bream (Megalobrama amblycephala). The mdka and -b genes encode 146 aa and 147 aa peptides, respectively, sharing a sequence identity of 64%. During embryogenesis, mdka mRNA is detectable after 12 h post-fertilization (hpf) and mdkb mRNA can be detected after 8 hpf, about 4 h prior to mdka mRNA...
May 2018: Comparative Biochemistry and Physiology. Part B, Biochemistry & Molecular Biology
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