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1. Full Text Neural tube defects—disorders of neurulation and related embryonic processes
by Copp, Andrew J and Greene, Nicholas D. E
Wiley Interdisciplinary Reviews: Developmental Biology, ISSN 1759-7684, 03/2013, Volume 2, Issue 2, pp. 213 - 227
Neural tube defects (NTDs) are severe congenital malformations affecting 1 in every 1000 pregnancies. ‘Open’ NTDs result from failure of primary neurulation as... 
DEVELOPMENTAL BIOLOGY | Anencephaly - pathology | Meningomyelocele - pathology | Humans | Neural Tube Defects - genetics | Hedgehog Proteins - metabolism | Neural Tube Defects - pathology | Embryonic Development | Neurulation - genetics | Folic Acid - administration & dosage | Anencephaly - genetics | Bone Morphogenetic Proteins - metabolism | Animals | Meningomyelocele - genetics | Hedgehog Proteins - genetics | Folic Acid - metabolism | Mice | Bone Morphogenetic Proteins - genetics | Spina bifida | Spinal cord | Rodents | Anencephaly | Vertebrae | Gastrulation | Congenital defects | Neural tube defects | Nervous system | Environmental factors | Folic acid | Defects | Encephalocele | Signal transduction | Embryogenesis | Molecular modelling | Neurodegeneration | Etiology | Hedgehog protein | Craniorachischisis | Polarity | Neural plate | Skin | Meninges
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2. Full Text Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel - Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and wnt signalling defects
by Abdelhamed, Zakia A and Wheway, Gabrielle and Szymanska, Katarzyna and Natarajan, Subaashini and Toomes, Carmel and Inglehearn, Chris and Johnson, Colin A
Human Molecular Genetics, ISSN 0964-6906, 04/2013, Volume 22, Issue 7, pp. 1358 - 1372
The ciliopathies are a group of heterogeneous diseases with considerable variations in phenotype for allelic conditions such as Meckel-Gruber syndrome (MKS)... 
Polycystic Kidney Diseases - genetics | Humans | Hedgehog Proteins - metabolism | Mice, 129 Strain | Cerebellum - abnormalities | Encephalocele - metabolism | Polycystic Kidney Diseases - pathology | Retinitis Pigmentosa | Dishevelled Proteins | Eye Abnormalities - metabolism | Wnt Signaling Pathway | Disease Models, Animal | Polycystic Kidney Diseases - metabolism | Cerebellar Diseases - metabolism | Membrane Proteins - genetics | Abnormalities, Multiple | Mice, Knockout | Kidney Diseases, Cystic - metabolism | Luciferases, Firefly - biosynthesis | Phenotype | Ciliary Motility Disorders - pathology | Eye Abnormalities - pathology | Mice | Retina - pathology | Retina - metabolism | Neural Tube Defects - genetics | Neural Tube Defects - pathology | Neural Tube Defects - metabolism | Phosphoproteins - metabolism | Membrane Proteins - deficiency | Cerebellar Diseases - pathology | HEK293 Cells | Kidney Diseases, Cystic - genetics | Genes, Reporter | Encephalocele - genetics | Cilia - pathology | Mice, Inbred C57BL | Gene Expression Regulation | Eye Abnormalities - genetics | Kidney Diseases, Cystic - pathology | Protein Transport | Animals | Cerebellar Diseases - genetics | Encephalocele - pathology | Retina - abnormalities | Luciferases, Firefly - genetics | Ciliary Motility Disorders - metabolism | Adaptor Proteins, Signal Transducing - metabolism | Body Patterning - genetics | Ciliary Motility Disorders - genetics
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3. Full Text Finding the genetic mechanisms of folate deficiency and neural tube defects—Leaving no stone unturned
by Au, Kit Sing and Findley, Tina O and Northrup, Hope
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2017, Volume 173, Issue 11, pp. 3042 - 3057
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... 
folate one‐carbon metabolism | genetic variants | genetic association | human neural tube defects | methylation | folate one-carbon metabolism | PERICONCEPTIONAL DIETARY-INTAKE | UNITED-STATES | FOLIC-ACID FORTIFICATION | RISK-FACTORS | GLYCINE CLEAVAGE SYSTEM | CELL POLARITY GENE | BIRTH-DEFECTS | SPINA-BIFIDA | GENETICS & HEREDITY | DIHYDROFOLATE-REDUCTASE DHFR | ONE-CARBON METABOLISM | United States | Humans | Neural Tube Defects - genetics | Folic Acid Deficiency - epidemiology | Neural Tube Defects - epidemiology | Neural Tube Defects - pathology | Socioeconomic Factors | Neural Tube - pathology | Pregnancy | Folic Acid Deficiency - pathology | Neural Tube - metabolism | Folic Acid - metabolism | Female | Folic Acid - genetics | Folic Acid Deficiency - genetics | Neural Tube - growth & development | Genetic research | Folic acid | Grain | Neural tube defects | Vitamin B | Socio-economic aspects | DNA methylation | Vitamin deficiency | Genomes | FDA approval | Gestation | Gene expression | Methylation
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4. Full Text Ambra1 regulates autophagy and development of the nervous system
by Maria Fimia, Gian and Stoykova, Anastassia and Romagnoli, Alessandra and Giunta, Luigi and Di Bartolomeo, Sabrina and Nardacci, Roberta and Corazzari, Marco and Fuoco, Claudia and Ucar, Ahmet and Schwartz, Peter and Gruss, Peter and Piacentini, Mauro and Chowdhury, Kamal and Cecconi, Francesco
Nature, ISSN 0028-0836, 06/2007, Volume 447, Issue 7148, pp. 1121 - 1125
Autophagy is a self-degradative process involved both in basal turnover of cellular components and in response to nutrient starvation or organelle damage in a... 
APOPTOSIS | EMBRYONIC-DEVELOPMENT | MOLECULAR MACHINERY | GENE | BECLIN-1 | MULTIDISCIPLINARY SCIENCES | TUMOR-SUPPRESSOR | MICE | PROTEINS | TUMORIGENESIS | CELL-DEATH | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | Nervous System - metabolism | Neural Tube Defects - embryology | Neural Tube Defects - genetics | Molecular Sequence Data | Neural Tube Defects - pathology | Male | Neural Tube Defects - metabolism | Autophagy - physiology | Embryo, Mammalian - metabolism | Female | Autophagy - genetics | Nervous System - embryology | Beclin-1 | Cell Line | Nervous System - cytology | Mice, Inbred C57BL | Embryonic Development - genetics | Embryonic Development - physiology | Mutation - genetics | Adaptor Proteins, Signal Transducing | Animals | Apoptosis Regulatory Proteins | Proteins - metabolism | Embryo, Mammalian - cytology | Protein Binding | Mice | Embryonic Stem Cells | Proteins | Molecules | Neurology | Eukaryotes | Nervous system | Embryos | Cells | Apoptosis | Cellular | Regulators | Ribonucleic acids | Cell death | Impairment | Nutrients
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5. Full Text Deletion of the neural tube defect-associated gene Mthfd1l disrupts one-carbon and central energy metabolism in mouse embryos
by Bryant, Joshua D and Sweeney, Shannon R and Sentandreu, Enrique and Shin, Minhye and Ipas, Hélène and Xhemalce, Blerta and Momb, Jessica and Tiziani, Stefano and Appling, Dean R
Journal of Biological Chemistry, ISSN 0021-9258, 2018, Volume 293, Issue 16, pp. 5821 - 5833
One-carbon (1C) metabolism is a universal folate-dependent pathway essential for de novo purine and thymidylate synthesis, amino acid interconversion,... 
MURINE EMBRYOS | SERINE | DATABASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | CLOSURE DEFECTS | HUMANS | MICE | SUPPRESSION | UNITS | FOLATE | CYCLE | Neural Tube Defects - genetics | Multienzyme Complexes - metabolism | Neural Tube Defects - pathology | Neural Tube Defects - metabolism | Aminohydrolases - genetics | Embryo, Mammalian - metabolism | Mitochondria - genetics | Gene Expression Regulation, Developmental | Gene Deletion | Methylenetetrahydrofolate Dehydrogenase (NADP) - genetics | Formates - metabolism | Methylenetetrahydrofolate Dehydrogenase (NADP) - metabolism | Embryo, Mammalian - pathology | Mice, Inbred C57BL | Cells, Cultured | Metabolome | Mitochondria - metabolism | Multienzyme Complexes - genetics | Mitochondria - pathology | Mice, Knockout | Formate-Tetrahydrofolate Ligase - metabolism | Animals | Energy Metabolism | Metabolic Networks and Pathways | Folic Acid - metabolism | Formate-Tetrahydrofolate Ligase - genetics | Glycolysis | Aminohydrolases - metabolism | Mice | Folic Acid - genetics | folate | metabolomics | embryo | Metabolism | energy metabolism | neural tube closure | mitochondrial metabolism
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6. Full Text Human neural tube defects: Developmental biology, epidemiology, and genetics
by Detrait, Eric R and George, Timothy M and Etchevers, Heather C and Gilbert, John R and Vekemans, Michel and Speer, Marcy C
Neurotoxicology and Teratology, ISSN 0892-0362, 2005, Volume 27, Issue 3, pp. 515 - 524
Birth defects (congenital anomalies) are the leading cause of death in babies under 1 year of age. Neural tube defects (NTD), with a birth incidence of... 
Teratology | Genetics | Neural tube defect | METHYLENETETRAHYDROFOLATE REDUCTASE MTHFR | 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE | FOLIC-ACID | NEUROSCIENCES | SPINA-BIFIDA | AFFECTED RELATIVE PAIRS | neural tube defect | genetics | RISK-FACTOR | POSTERIOR NEUROPORE CLOSURE | NORMAL MOUSE EMBRYOS | teratology | INTERMITTENT PATTERN | TOXICOLOGY | MUTANT CURLY TAIL | Pregnancy | Animals | Humans | Neural Tube Defects - genetics | Neural Tube Defects - epidemiology | Neural Tube Defects - pathology | Environment | Female | Mice | Nervous System - embryology
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7. Full Text The Primary Cilium as the Cell's Antenna: Signaling at a Sensory Organelle
by Veena Singla and Jeremy F. Reiter
Science, ISSN 0036-8075, 8/2006, Volume 313, Issue 5787, pp. 629 - 633
Almost every vertebrate cell has a specialized cell surface projection called a primary cilium. Although these structures were first described more than a... 
Vertebrates | Cell growth | Kidneys | Cysts | Epithelial cells | Drosophila | Stem cells | Polycystic kidney diseases | Review | Cells | Cilia | INTRAFLAGELLAR TRANSPORT PROTEINS | CHLAMYDOMONAS-REINHARDTII | ODORANT RECEPTORS | NODAL CILIA | POLYCYSTIC KIDNEY-DISEASE | KINESIN-II | MULTIDISCIPLINARY SCIENCES | BARDET-BIEDL-SYNDROME | MITOTIC SPINDLE | C-ELEGANS NEURONS | LEFT-RIGHT ASYMMETRY | Cilia - physiology | Cell Polarity | Neural Tube Defects - physiopathology | Signal Transduction | Humans | Mechanoreceptors - physiology | Neural Tube Defects - pathology | Retinal Degeneration - physiopathology | Bardet-Biedl Syndrome - physiopathology | Wnt Proteins - metabolism | Biological Evolution | Hedgehog Proteins | Smell - physiology | Vision, Ocular - physiology | Animals | Polycystic Kidney Diseases - pathology | Polycystic Kidney Diseases - physiopathology | Models, Biological | Bardet-Biedl Syndrome - pathology | Trans-Activators - metabolism | Retinal Degeneration - pathology | Eukaryotes | Cell organelles | Research | Cilia and ciliary motion | Analysis
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8. Full Text Cellular Profiles and Molecular Mediators of Lesion Cascades in the Placode in Human Open Spinal Neural Tube Defects
by Kowitzke, Bea and Cohrs, Gesa and Leuschner, Ivo and Koch, Arend and Synowitz, Michael and Mehdorn, Hubertus Maximilian and Held-Feindt, Janka and Knerlich-Lukoschus, Friederike
Journal of Neuropathology & Experimental Neurology, ISSN 0022-3069, 09/2016, Volume 75, Issue 9, pp. 827 - 842
Myelomeningoceles (mmc) are clinically challenging CNS malformations. Although improvement in their management has been achieved with respect to antenatal... 
Immunohistochemistry | Real-time RT-PCR | APOPTOSIS | Cytokines | Erythropoietin | FETAL SURGERY | RATS | Inflammation | MODEL | PATHOLOGY | NEUROSCIENCES | CORD CONTUSION INJURIES | CLINICAL NEUROLOGY | HUMAN FETUSES | Myelomeningocele | POTENTIAL ROLE | EXPRESSION | Spinal Cord - abnormalities | Meningomyelocele - pathology | Spinal Cord - metabolism | Spinal Cord - pathology | Humans | Inflammation Mediators - metabolism | Neural Tube Defects - pathology | Female | Male | Neural Tube Defects - metabolism | Infant, Newborn | Meningomyelocele - metabolism
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9. Full Text Contribution of VANGL2 mutations to isolated neural tube defects
by Kibar, Z and Salem, S and Bosoi, CM and Pauwels, E and De Marco, P and Merello, E and Bassuk, AG and Capra, V and Gros, P
Clinical Genetics, ISSN 0009-9163, 07/2011, Volume 80, Issue 1, pp. 76 - 82
Kibar Z, Salem S, Bosoi CM, Pauwels E, De Marco P, Merello E, Bassuk AG, Capra V, Gros P. Contribution of VANGL2 mutations to isolated neural tube defects.... 
planar cell polarity | neural tube defects | VANGL2 | Planar cell polarity | Neural tube defects | MEMBERS | GENETICS & HEREDITY | Amino Acid Sequence | Genetic Predisposition to Disease | Membrane Proteins - genetics | Humans | Neural Tube Defects - genetics | Molecular Sequence Data | Neural Tube Defects - pathology | Female | Male | Mutation | Mutation, Missense | Intracellular Signaling Peptides and Proteins - genetics | Spina bifida | Genetic aspects | Universities and colleges | Analysis | Genetics | Birth defects | Genetic disorders | Pathogenesis | Rodents
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