Neural Tube Defects: Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy generally occurring between days 18-29 of gestation. Ectodermal and mesodermal malformations (mainly involving the skull and vertebrae) may occur as a result of defects of neural tube closure. (From Joynt, Clinical Neurology, 1992, Ch55, pp31-41)Neural Tube: A tube of ectodermal tissue in an embryo that will give rise to the CENTRAL NERVOUS SYSTEM, including the SPINAL CORD and the BRAIN. Lumen within the neural tube is called neural canal which gives rise to the central canal of the spinal cord and the ventricles of the brain. For malformation of the neural tube, see NEURAL TUBE DEFECTS.Anencephaly: A malformation of the nervous system caused by failure of the anterior neuropore to close. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed but the eyes are usually normal. This condition may be associated with folate deficiency. Affected infants are only capable of primitive (brain stem) reflexes and usually do not survive for more than two weeks. (From Menkes, Textbook of Child Neurology, 5th ed, p247)Spinal Dysraphism: Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)Folic Acid: A member of the vitamin B family that stimulates the hematopoietic system. It is present in the liver and kidney and is found in mushrooms, spinach, yeast, green leaves, and grasses (POACEAE). Folic acid is used in the treatment and prevention of folate deficiencies and megaloblastic anemia.Spina Bifida Occulta: A common congenital midline defect of fusion of the vertebral arch without protrusion of the spinal cord or meninges. The lesion is also covered by skin. L5 and S1 are the most common vertebrae involved. The condition may be associated with an overlying area of hyperpigmented skin, a dermal sinus, or an abnormal patch of hair. The majority of individuals with this malformation are asymptomatic although there is an increased incidence of tethered cord syndrome and lumbar SPONDYLOSIS. (From Joynt, Clinical Neurology, 1992, Ch55, p34)Neurulation: An early embryonic developmental process of CHORDATES that is characterized by morphogenic movements of ECTODERM resulting in the formation of the NEURAL PLATE; the NEURAL CREST; and the NEURAL TUBE. Improper closure of the NEURAL GROOVE results in congenital NEURAL TUBE DEFECTS.Spina Bifida Cystica: A form of spinal dysraphism associated with a protruding cyst made up of either meninges (i.e., a MENINGOCELE) or meninges in combination with spinal cord tissue (i.e., a MENINGOMYELOCELE). These lesions are frequently associated with spinal cord dysfunction, HYDROCEPHALUS, and SYRINGOMYELIA. (From Davis et al., Textbook of Neuropathology, 2nd ed, pp224-5)Encephalocele: Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur.Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.Meningomyelocele: Congenital, or rarely acquired, herniation of meningeal and spinal cord tissue through a bony defect in the vertebral column. The majority of these defects occur in the lumbosacral region. Clinical features include PARAPLEGIA, loss of sensation in the lower body, and incontinence. This condition may be associated with the ARNOLD-CHIARI MALFORMATION and HYDROCEPHALUS. (From Joynt, Clinical Neurology, 1992, Ch55, pp35-6)Vitamin B Complex: A group of water-soluble vitamins, some of which are COENZYMES.Preconception Care: An organized and comprehensive program of health care that identifies and reduces a woman's reproductive risks before conception through risk assessment, health promotion, and interventions. Preconception care programs may be designed to include the male partner in providing counseling and educational information in preparation for fatherhood, such as genetic counseling and testing, financial and family planning, etc. This concept is different from PRENATAL CARE, which occurs during pregnancy.Prenatal Diagnosis: Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.Food, Fortified: Any food that has been supplemented with essential nutrients either in quantities that are greater than those present normally, or which are not present in the food normally. Fortified food includes also food to which various nutrients have been added to compensate for those removed by refinement or processing. (From Segen, Dictionary of Modern Medicine, 1992)Congenital Abnormalities: Malformations of organs or body parts during development in utero.Folic Acid Deficiency: A nutritional condition produced by a deficiency of FOLIC ACID in the diet. Many plant and animal tissues contain folic acid, abundant in green leafy vegetables, yeast, liver, and mushrooms but destroyed by long-term cooking. Alcohol interferes with its intermediate metabolism and absorption. Folic acid deficiency may develop in long-term anticonvulsant therapy or with use of oral contraceptives. This deficiency causes anemia, macrocytic anemia, and megaloblastic anemia. It is indistinguishable from vitamin B 12 deficiency in peripheral blood and bone marrow findings, but the neurologic lesions seen in B 12 deficiency do not occur. (Merck Manual, 16th ed)Abortion, Therapeutic: Abortion induced to save the life or health of a pregnant woman. (From Dorland, 28th ed)alpha-Fetoproteins: The first alpha-globulins to appear in mammalian sera during FETAL DEVELOPMENT and the dominant serum proteins in early embryonic life.Neural Crest: The two longitudinal ridges along the PRIMITIVE STREAK appearing near the end of GASTRULATION during development of nervous system (NEURULATION). The ridges are formed by folding of NEURAL PLATE. Between the ridges is a neural groove which deepens as the fold become elevated. When the folds meet at midline, the groove becomes a closed tube, the NEURAL TUBE.Infant, Newborn: An infant during the first month after birth.Nervous System: The entire nerve apparatus, composed of a central part, the brain and spinal cord, and a peripheral part, the cranial and spinal nerves, autonomic ganglia, and plexuses. (Stedman, 26th ed)Air Pollution, RadioactiveAmniocentesis: Percutaneous transabdominal puncture of the uterus during pregnancy to obtain amniotic fluid. It is commonly used for fetal karyotype determination in order to diagnose abnormal fetal conditions.Prenatal Care: Care provided the pregnant woman in order to prevent complications, and decrease the incidence of maternal and prenatal mortality.Embryo, Mammalian: The entity of a developing mammal (MAMMALS), generally from the cleavage of a ZYGOTE to the end of embryonic differentiation of basic structures. For the human embryo, this represents the first two months of intrauterine development preceding the stages of the FETUS.Amniotic Fluid: A clear, yellowish liquid that envelopes the FETUS inside the sac of AMNION. In the first trimester, it is likely a transudate of maternal or fetal plasma. In the second trimester, amniotic fluid derives primarily from fetal lung and kidney. Cells or substances in this fluid can be removed for prenatal diagnostic tests (AMNIOCENTESIS).Dietary Supplements: Products in capsule, tablet or liquid form that provide dietary ingredients, and that are intended to be taken by mouth to increase the intake of nutrients. Dietary supplements can include macronutrients, such as proteins, carbohydrates, and fats; and/or MICRONUTRIENTS, such as VITAMINS; MINERALS; and PHYTOCHEMICALS.Gene Expression Regulation, Developmental: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action during the developmental stages of an organism.Mouth Abnormalities: Congenital absence of or defects in structures of the mouth.IrelandCentral Nervous System: The main information-processing organs of the nervous system, consisting of the brain, spinal cord, and meninges.Fetal Death: Death of the developing young in utero. BIRTH of a dead FETUS is STILLBIRTH.Chick Embryo: The developmental entity of a fertilized chicken egg (ZYGOTE). The developmental process begins about 24 h before the egg is laid at the BLASTODISC, a small whitish spot on the surface of the EGG YOLK. After 21 days of incubation, the embryo is fully developed before hatching.Flour: Ground up seed of WHEAT.Homocysteine: A thiol-containing amino acid formed by a demethylation of METHIONINE.Vitamin B 12: A cobalt-containing coordination compound produced by intestinal micro-organisms and found also in soil and water. Higher plants do not concentrate vitamin B 12 from the soil and so are a poor source of the substance as compared with animal tissues. INTRINSIC FACTOR is important for the assimilation of vitamin B 12.TailZineb: An agricultural fungicide of the dithiocarbamate class. It has relatively low toxicity and there is little evidence of human injury from exposure.Mice, Mutant Strains: Mice bearing mutant genes which are phenotypically expressed in the animals.Paired Box Transcription Factors: A family of transcription factors that control EMBRYONIC DEVELOPMENT within a variety of cell lineages. They are characterized by a highly conserved paired DNA-binding domain that was first identified in DROSOPHILA segmentation genes.Methylenetetrahydrofolate Reductase (NADPH2): A flavoprotein amine oxidoreductase that catalyzes the reversible conversion of 5-methyltetrahydrofolate to 5,10-methylenetetrahydrofolate. This enzyme was formerly classified as EC 1.1.1.171.Embryonic and Fetal Development: Morphological and physiological development of EMBRYOS or FETUSES.Vitamin B 12 Deficiency: A nutritional condition produced by a deficiency of VITAMIN B 12 in the diet, characterized by megaloblastic anemia. Since vitamin B 12 is not present in plants, humans have obtained their supply from animal products, from multivitamin supplements in the form of pills, and as additives to food preparations. A wide variety of neuropsychiatric abnormalities is also seen in vitamin B 12 deficiency and appears to be due to an undefined defect involving myelin synthesis. (From Cecil Textbook of Medicine, 19th ed, p848)Body Patterning: The processes occurring in early development that direct morphogenesis. They specify the body plan ensuring that cells will proceed to differentiate, grow, and diversify in size and shape at the correct relative positions. Included are axial patterning, segmentation, compartment specification, limb position, organ boundary patterning, blood vessel patterning, etc.In Situ Hybridization: A technique that localizes specific nucleic acid sequences within intact chromosomes, eukaryotic cells, or bacterial cells through the use of specific nucleic acid-labeled probes.Methylenetetrahydrofolate Dehydrogenase (NADP): An NADP-dependent oxidoreductase that catalyses the conversion of 5,10-methyleneterahydrofolate to 5,10-methenyl-tetrahydrofolate. In higher eukaryotes a trifunctional enzyme exists with additional METHENYLTETRAHYDROFOLATE CYCLOHYDROLASE and FORMATE-TETRAHYDROFOLATE LIGASE activity. The enzyme plays an important role in the synthesis of 5-methyltetrahydrofolate, the methyl donor for the VITAMIN B12-dependent remethylation of HOMOCYSTEINE to METHIONINE via METHIONINE SYNTHETASE.Notochord: A cartilaginous rod of mesodermal cells at the dorsal midline of all CHORDATE embryos. In lower vertebrates, notochord is the backbone of support. In the higher vertebrates, notochord is a transient structure, and segments of the vertebral column will develop around it. Notochord is also a source of midline signals that pattern surrounding tissues including the NEURAL TUBE development.Vitamins: Organic substances that are required in small amounts for maintenance and growth, but which cannot be manufactured by the human body.Embryonic Development: Morphological and physiological development of EMBRYOS.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Fetal Diseases: Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.Pregnancy in Diabetics: The state of PREGNANCY in women with DIABETES MELLITUS. This does not include either symptomatic diabetes or GLUCOSE INTOLERANCE induced by pregnancy (DIABETES, GESTATIONAL) which resolves at the end of pregnancy.Maneb: Manganese derivative of ethylenebisdithiocarbamate. It is used in agriculture as a fungicide and has been shown to cause irritation to the eyes, nose, skin, and throat.Pregnancy Complications: Conditions or pathological processes associated with pregnancy. They can occur during or after pregnancy, and range from minor discomforts to serious diseases that require medical interventions. They include diseases in pregnant females, and pregnancies in females with diseases.Formate-Tetrahydrofolate Ligase: A carbon-nitrogen ligase that catalyzes the formation of 10-formyltetrahydrofolate from formate and tetrahydrofolate in the presence of ATP. In higher eukaryotes the enzyme also contains METHYLENETETRAHYDROFOLATE DEHYDROGENASE (NADP+) and METHENYLTETRAHYDROFOLATE CYCLOHYDROLASE activity.Morphogenesis: The development of anatomical structures to create the form of a single- or multi-cell organism. Morphogenesis provides form changes of a part, parts, or the whole organism.Gestational Age: The age of the conceptus, beginning from the time of FERTILIZATION. In clinical obstetrics, the gestational age is often estimated as the time from the last day of the last MENSTRUATION which is about 2 weeks before OVULATION and fertilization.Thymidine Monophosphate: 5-Thymidylic acid. A thymine nucleotide containing one phosphate group esterified to the deoxyribose moiety.Teratogens: An agent that causes the production of physical defects in the developing embryo.Deanol: An antidepressive agent that has also been used in the treatment of movement disorders. The mechanism of action is not well understood.Pollen Tube: A growth from a pollen grain down into the flower style which allows two sperm to pass, one to the ovum within the ovule, and the other to the central cell of the ovule to produce endosperm of SEEDS.Case-Control Studies: Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Maternal Exposure: Exposure of the female parent, human or animal, to potentially harmful chemical, physical, or biological agents in the environment or to environmental factors that may include ionizing radiation, pathogenic organisms, or toxic chemicals that may affect offspring. It includes pre-conception maternal exposure.Folate Receptor 1: A subtype of GPI-anchored folate receptors that is expressed in tissues of epithelial origin. This protein is also identified as an ovarian-tumor-specific antigen.Prenatal Nutritional Physiological Phenomena: Nutrition of FEMALE during PREGNANCY.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Abnormalities, Drug-Induced: Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment.Abortion, Induced: Intentional removal of a fetus from the uterus by any of a number of techniques. (POPLINE, 1978)Abnormalities, MultipleTetrahydrofolates: Compounds based on 5,6,7,8-tetrahydrofolate.Cleft Lip: Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.Heart Defects, Congenital: Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.Homeodomain Proteins: Proteins encoded by homeobox genes (GENES, HOMEOBOX) that exhibit structural similarity to certain prokaryotic and eukaryotic DNA-binding proteins. Homeodomain proteins are involved in the control of gene expression during morphogenesis and development (GENE EXPRESSION REGULATION, DEVELOPMENTAL).Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Transcobalamins: A group of carrier proteins which bind with VITAMIN B12 in the BLOOD and aid in its transport. Transcobalamin I migrates electrophoretically as a beta-globulin, while transcobalamins II and III migrate as alpha-globulins.Bread: Baked food product made of flour or meal that is moistened, kneaded, and sometimes fermented. A major food since prehistoric times, it has been made in various forms using a variety of ingredients and methods.Craniofacial Abnormalities: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.Pregnancy Trimester, Second: The middle third of a human PREGNANCY, from the beginning of the 15th through the 28th completed week (99 to 196 days) of gestation.Homozygote: An individual in which both alleles at a given locus are identical.Pregnancy Trimester, First: The beginning third of a human PREGNANCY, from the first day of the last normal menstrual period (MENSTRUATION) through the completion of 14 weeks (98 days) of gestation.Thiocholine: A mercaptocholine used as a reagent for the determination of CHOLINESTERASES. It also serves as a highly selective nerve stain.Meningocele: A congenital or acquired protrusion of the meninges, unaccompanied by neural tissue, through a bony defect in the skull or vertebral column.Mice, Knockout: Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.Folate Receptors, GPI-Anchored: Cell surface receptors that bind to and transport FOLIC ACID, 5-methyltetrahydrofolate, and a variety of folic acid derivatives. The receptors are essential for normal NEURAL TUBE development and transport folic acid via receptor-mediated endocytosis.Genes, Lethal: Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.Risk Factors: An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.Prevalence: The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.Hydrocephalus: Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, INTRACRANIAL HYPERTENSION; HEADACHE; lethargy; URINARY INCONTINENCE; and ATAXIA.Quail: Common name for two distinct groups of BIRDS in the order GALLIFORMES: the New World or American quails of the family Odontophoridae and the Old World quails in the genus COTURNIX, family Phasianidae.Mice, Neurologic Mutants: Mice which carry mutant genes for neurologic defects or abnormalities.Estriol: A hydroxylated metabolite of ESTRADIOL or ESTRONE that has a hydroxyl group at C3, 16-alpha, and 17-beta position. Estriol is a major urinary estrogen. During PREGNANCY, a large amount of estriol is produced by the PLACENTA. Isomers with inversion of the hydroxyl group or groups are called epiestriol.Down Syndrome: A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)Cleft Palate: Congenital fissure of the soft and/or hard palate, due to faulty fusion.Risk: The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome.Maternal Nutritional Physiological Phenomena: Nutrition of a mother which affects the health of the FETUS and INFANT as well as herself.Cerebral Aqueduct: Narrow channel in the MESENCEPHALON that connects the third and fourth CEREBRAL VENTRICLES.Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.Cell Polarity: Orientation of intracellular structures especially with respect to the apical and basolateral domains of the plasma membrane. Polarized cells must direct proteins from the Golgi apparatus to the appropriate domain since tight junctions prevent proteins from diffusing between the two domains.
"Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse". Hum. Mol. Genet. 12 (2): 87-98. doi: ...
The disruption of PIP5KIγ also causes neural tube closure defects caused by decreased PI(4,5)P2 level. In contrast to this, ... The disruption of PIP5KIγ leads to broad developmental and cellular defects in mice indicating PIP5KIγ plays critical role for ... P2 synthesis in nerve terminals produces defects in synaptic vesicle trafficking". Nature. 431 (7007): 415-422. doi:10.1038/ ... embryogenesis and adulthood of mice and its disruption causes fatality for postnatal life []. The embryo without PIP5KIγ has ...
1996). "PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida". J. Med. ... 1998). "Targeted disruption of Pax1 defines its null phenotype and proves haploinsufficiency". Proc. Natl. Acad. Sci. U.S.A. 95 ...
Benzene exposure in mothers has been linked to fetal brain defects especially neural tube defects. In one study, BTEX (Benzene ... Adverse effects include stillbirth, placental disruption, prematurity, lower mean birth weight, physical birth defects (cleft ... A 2011 study found a relationship between Neural Tube Defects and maternal exposure to benzene, a compound associated with ... and neural tube defects (NTDs). Along with this finding, a small association was found between mean birth weight and the ...
Certain variants of the MTHFD1L are associated neural tube defects. Model organisms have been used in the study of MTHFD1L ... "Disruption of the mthfd1 gene reveals a monofunctional 10-formyltetrahydrofolate synthetase in mammalian mitochondria". J. Biol ... 2009). "A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency". Hum. Mutat. 30 (12): ... "A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency". Hum. Mutat. 30 (12): 1650-6. ...
These birth defects included neural tube defects, malformations of the cardiac septa, anomalies of arteries and veins, and ... neural crest cell disruption, endocrine disruption, oxidative stress, vascular disruption and specific receptor- or enzyme- ... such as neural tube defects, hypospadias, epispadia, and abdominal wall defects, such as gastroschisis and exomphalos. A study ... ventricular septal defect, and tetralogy of fallot. Congenital anomalies of the nervous system include neural tube defects such ...
Neural tube defect (NTD) are defects of the brain and spinal cord in the embryo resulting from failure of the neural tube to ... roles in signal transduction and disruption by fumonisins". Environmental Health Perspectives. 109: 283-289. doi:10.2307/ ... "Neural Tube Defects and the Texas-Mexico Border". Retrieved April 2011. Check date values in: ,access-date= (help) Cornell J, ... Check date values in: ,access-date= (help) Blom HJ, Shaw GM, den Heijer M, Finnel RH (2006). "Neural tube defects and folate: ...
Homozygous knockout mice also have neural tube defects followed by craniofacial and body wall abnormalities. In vivo gene ... A disruption of an AP-2 alpha binding site in an IRF6 enhancer is associated with cleft lip. Mutations in IRF6 gene cause Van ... "Neural tube, skeletal and body wall defects in mice lacking transcription factor AP-2". Nature. 381 (6579): 238-41. doi:10.1038 ... alpha is expressed in ectoderm and in neural-crest cells migrating from the cranial folds during closure of the neural tube in ...
Also, CBP and p300 knockout mice have an open neural tube defect and therefore die before birth. p300−/− embryos exhibit ... Numerous reports show a link between age-related diseases, birth defects, and several types of cancer with disruption of ... "Gene dosage-dependent embryonic development and proliferation defects in mice lacking the transcriptional integrator p300". ...
... disruption of Notch signaling results in aortic arch branching defects and pulmonary stenosis, as well as a defect in the ... Downregulation of the Wnt coreceptor Lrp6 leads to a reduction of CNCCs in the dorsal neural tube and in the pharyngeal arches ... Kaartinen V. et al "Cardiac outflow tract defects in mice lacking ALK2 in neural crest cells". Development July 2004, 131(14) ... Cardiac neural crest cells (CNCCs) are a type of neural crest cells that migrate to the circumpharyngeal ridge (an arc-shape ...
The tubes fuse when cells between then undergo programmed death and cells from the first heart field migrate to the tube, and ... a complex sequence of events that result in a well formed heart at birth and disruption of any portion may result in a defect. ... After this happens, cells which have migrated from the neural crest begin to divide the bulbus cordis, the main outflow tract ... Congenital heart defects are divided into two main groups: cyanotic heart defects and non-cyanotic heart defects, depending on ...
... found that smog in the San Joaquin Valley area of California was linked to two types of neural tube defects: spina bifida (a ... The dense smog in Delhi during winter season results in major air and rail traffic disruptions every year. According to Indian ... A study examining 806 women who had babies with birth defects between 1997 and 2006, and 849 women who had healthy babies, ...
... often leading to neural tube defects in neonates. As a metabolite of arsenic, arsenite is formed after ingestion of arsenic and ... Ingestion of lethal volumes of Cltx results in paralysis through this ion channel disruption. Similar to botulinum toxin, Cltx ... and Mercury and Neural Tube Defects in Offspring". Environmental Research. 101 (1): 132-39. doi:10.1016/j.envres.2005.08.003. ... This neurite growth inhibition can often lead to defects in neural migration, and significant morphological changes of neurons ...
Impairment of the Sonic hedgehog pathway was apparent in both neural tube patterning (expansion of motoneurons and rostrocaudal ... Disruption of IFT43 disturbs transport from the ciliary tip to the base. Anterograde transport in the opposite direction ... The visual defects are due to photoreceptor dystrophy. The chronic renal failure is due to tubulointerstitial nephropathy. The ... Sensenbrenner JA, Dorst JP, Owens RP (1975). "New syndrome of skeletal, dental and hair anomalies". Birth Defects Orig. Artic. ...
Hence, high levels of free radicals can cause damage to them and induce dysraphic anomalies (neural tube defects).[citation ... SOD knockdowns in the worm C. elegans do not cause major physiological disruptions. However, the lifespan of C. elegans can be ... Overexpression of SOD1 has been linked to the neural disorders seen in Down syndrome.[38] In patients with thalassemia, SOD ... Mice lacking SOD3 do not show any obvious defects and exhibit a normal lifespan, though they are more sensitive to hyperoxic ...
Folate deficiency has been linked to neural tube defects. Malnutrition in the form of iodine deficiency is "the most common ... There are a number of potential disruptions to global food supply that could cause widespread malnutrition. Climate change is ... Fluids by nasogastric tube may be use in those who do not drink. Intravenous fluids are recommended only in those who have ... If the child is unconscious, give glucose by intravenous or nasogastric tube. If seizures occur after despite glucose, rectal ...
"Association of selected persistent organic pollutants in the placenta with the risk of neural tube defects". Proceedings of the ... The storage and release of these chemicals within the fetus can lead to endocrine disruption, immunosuppression, thyroid ... disruption, and neurotoxicity in seals and orcas. In mammals, maternal factors can be transferred via the placenta, in the ...
... neural tube defects, diaphragmatic defects and others". Taiwanese journal of obstetrics & gynecology. 46 (2): 111-20. doi: ... disruption of biochemical signaling pathways, or other effects of the nonfunctional megalin protein. However, it is unclear how ... This potentially serious birth defect allows the stomach and intestines to move into the chest and possibly crowd the ... and the small tubes in the kidneys where urine is formed (renal tubules). LRP2 gene mutations that cause Donnai-Barrow syndrome ...
Hence, high levels of free radicals can cause damage to them and induce dysraphic anomalies (neural tube defects). A cross- ... SOD knockdowns in C. elegans do not cause major physiological disruptions. Knockout or null mutations in SOD1 are highly ... Mice lacking SOD3 do not show any obvious defects and exhibit a normal lifespan, though they are more sensitive to hyperoxic ... Overexpression of SOD1 has been linked to the neural disorders seen in Down syndrome. In patients with thalassemia, SOD will ...
... and a defect in neural tube closure. These mice were found to be resistant to apoptosis mediated by CD95, TNFR, etc. but not ... Any disruption to the regulation of the p53 or interferon genes will result in impaired apoptosis and the possible formation of ... Defects in the cell cycle are thought to be responsible for the resistance to chemotherapy or radiation by certain tumor cells ... Defects in regulation of apoptosis in cancer cells occur often at the level of control of transcription factors. As a ...
... intake could increase the risk of neural tube defects by reducing the amount of methylayed DNA during cranial neural tube ... Animal studies have shown that maternal overnutrition may impact brain development and cause disruptions to programming of the ... Integrity of the methylation cycle is essential for mammalian neural tube closure. Birth Defects Res A Clin Mol Teratol. 2006 ... Early differential defects of insulin secretion and action in 19-year-old caucasian men who had low birth weight. Diabetes. ...
... and a defect in neural tube closure. These mice were found to be resistant to apoptosis mediated by CD95, TNFR, etc. but not ... Böhm I (2003). "Disruption of the cytoskeleton after apoptosis induction by autoantibodies". Autoimmunity. 36 (3): 183-189. doi ... Defects in the cell cycle are thought to be responsible for the resistance to chemotherapy or radiation by certain tumor cells ... Defects in regulation of apoptosis in cancer cells occur often at the level of control of transcription factors. As a ...
... and neural tube defects, with spina bifida being the most statistically significant defect. The large discrepancy in RR between ... There are other explanations such as endocrine disruption or altered signal transduction. The endocrine disrupting activities ... In Vietnam and the United States, teratogenic or birth defects were observed in children of persons that were exposed to Agent ... Despite this, statistical analysis of the studies they examined resulted in data that the increase in birth defects/relative ...
The neural tube closes. The ears begin to form as otic pits. Arm buds and a tail are visible. Lung bud, the first traits of the ... When using drugs (narcotics), there is a greater risk of birth defects, low birth weight, and a higher rate of death in infants ... Alcohol Alcohol use leads to disruptions of the fetus's brain development, interferes with the fetus's cell development and ... The embryo spends the next few days traveling down the Fallopian tube. It starts out as a single cell zygote and then divides ...
... rare defect of the neural tube characterized by sac-like protrusions of the brain Mortality is high among those severely ... is an extremely rare genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell ... Other abnormalities can occur in different parts of the body, including: Heart- atrial septal defects, ventricular septal ... a birth defect in which the hands and feet are attached to shortened arms and legs Prenatal Growth Retardation Hypomelia ( ...
... in which a tube is placed through the wall of the abdomen into the stomach, or a nasogastric tube, in which a tube is placed ... Journal of Neural Transmission. 125 (4): 591-613. doi:10.1007/s00702-018-1851-y. PMID 29417336.. ... "Disruption of ER-mitochondria signalling in fronto-temporal dementia and related amyotrophic lateral sclerosis". Cell Death & ... than a nasogastric tube, which is uncomfortable and can cause esophageal ulcers.[14] The feeding tube is usually inserted by ...
Neural Tube Defects:. Risks: Folic Acid deficiency, diabetes, obesity, hyperthermia (all in first trimester). Presents:Meninges ... meningocele) and/or spinal cord (myelomeningocele) can protrude into sac; May not have a skin disruption (Spina Bifida Occulta ... Risks: Congenital; Scoliosis, spina bifida, cleft palate, heart defects,Sprengels deformity. Presents: Short neck, low ... b. Midline facial defects. c. One shoulder blade higher than the other. d. Amnion attaching itself to the fetus. http://www.ghr ...
Neural tube defects and other early brain malformations§. *Neural tube defects (NTD) *Anencephaly / Acrania ... Fetal brain disruption sequence (collapsed skull, overlapping sutures, prominent occipital bone, scalp rugae) ... Neural tube defects and other early brain malformations are included as biologically plausible birth defects; however, they ... This case definition is used for both the US Zika Pregnancy and Infant Registry as well as Zika Birth Defects Surveillance. ...
"Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse". Hum. Mol. Genet. 12 (2): 87-98. doi: ...
Disruption of these genes may result in defects in neural tube development. This has been recently demonstrated for one class ... Neural tube closure defects, in particular anencephaly and spina bifida, are common human birth defects (˜1 in 1000). Evidence ... The method of claim 39, wherein said condition is a neural tube defect. 46. The method of claim 39, wherein said condition is ... A number of mouse mutants, both spontaneous and engineered, with neural tube closure defects have been characterized. ...
"Disruption of the csk gene, encoding a negative regulator of Src family tyrosine kinases, leads to neural tube defects and ... Mice die between day 9 and day 10 of gestation with several defects including a non-functional neural tube. SRC and FYN kinases ... help/disruption_phenotype target=_top>More...,/a>,/p>Disruption phenotypei. ...
2003) Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse. Hum Mol Genet 12:87-98. ... 1995) Abnormal lung development and cleft palate in mice lacking TGF-beta 3 indicates defects of epithelial-mesenchymal ... 1997) TGFbeta2 knockout mice have multiple developmental defects that are non-overlapping with other TGFbeta knockout ...
Disruptions in this gene are thought to be associated with neural tube defects. A pseudogene of this gene has been identified ... The maternal ITPK1 gene polymorphism is associated with neural tube defects in a high-risk Chinese population. Guan Z, et al. ... Title: The maternal ITPK1 gene polymorphism is associated with neural tube defects in a high-risk Chinese population. ... Inositol metabolism plays a role in the development of the neural tube. ...
... help/disruption_phenotype target=_top>More...,/a>,/p>Disruption phenotypei. Mice display severe neural tube defects ... neural tube development Source: MGI ,p>Inferred from Mutant Phenotype,/p> ,p>Describes annotations that are concluded from ... At E11.5, it is highly expressed in the ventral-most part of the spinal cord, the encephalic vesicles, the neural retina, the ... Cited for: FUNCTION, SUBCELLULAR LOCATION, DISRUPTION PHENOTYPE, TISSUE SPECIFICITY, INTERACTION WITH BECN1 AND PIK3C3. ...
Congenital deformities involving the coverings of the nervous system are called neural tube defects (NTDs). Neural tube defects ... Any disruption during stages 8-10 (ie, when the neural plate begins its first fold and fuses to form the neural tube) can cause ... The primary embryologic defect in all neural tube defects is failure of the neural tube to close, affecting neural and ... encoded search term (Neural Tube Defects in the Neonatal Period) and Neural Tube Defects in the Neonatal Period What to Read ...
Disruption of this gene causes perinatal death, with neural tube, craniofacial, and limb mesenchyme defects. Alternative ...
The disruption of PIP5KIγ also causes neural tube closure defects caused by decreased PI(4,5)P2 level. In contrast to this, ... The disruption of PIP5KIγ leads to broad developmental and cellular defects in mice indicating PIP5KIγ plays critical role for ... P2 synthesis in nerve terminals produces defects in synaptic vesicle trafficking". Nature. 431 (7007): 415-422. doi:10.1038/ ... embryogenesis and adulthood of mice and its disruption causes fatality for postnatal life []. The embryo without PIP5KIγ has ...
2016). Prevention of neural tube defects in the UK: a missed opportunity. Arch. Dis. Child. 101, 604-607. doi:10.1136/ ... 2011). Contribution of VANGL2 mutations to isolated neural tube defects. Clin. Genet. 80, 76-82. doi:10.1111/j.1399-0004.2010. ... 2003). Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse. ... Neural tube defects (NTDs) are severe neurodevelopmental disorders which affect approximately one in every 1000 births (Morris ...
Disruption of mouse Tulp3 results in morphological defects in the embryonic craniofacial regions, the spinal neural tube and ... Neural tube patterning in Shh/Tulp3 and Gli2/Tulp double mutants. Sections through the neural tubes (lumbar level) of E10.5 ... Neural tube patterning in Smo/Tulp3 and Kif3a/Tulp3 double mutants. Sections through posterior (lumbar) neural tubes of E9.5 ... The mutants exhibited neural tube closure defects (white arrowheads), eye defects (black arrow) and abnormal anterior outgrowth ...
"It is the most common of several birth defects called neural tube defects. The neural tube contains the cells that ultimately ... When the neural tube does not close properly, it can lead to spina bifida, a disruption in the spinal column. Spina bifida ... It is one of a group of genetic disorders known as neural tube defects. The neural tube is a structure that forms very early in ... The top of the neural tube eventually forms the brain and top of the spinal column. The bottom of the neural tube eventually ...
2003). Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse. Hum. Mol. Genet. 12, 87-98. ... 2014). Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice. Dis. Model Mech. 7, ... Scrib mutants display PCP defects in diverse tissues, including in mouse neural tube and lung, Drosophila larval eye and wing ... The human genetics of neural tube defects is complex and poorly understood, and the mouse studies reveal that both genetic ...
2003). Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse. Hum. Mol. Genet. 12, 87-98. ... Loss of SCRIB in mammals leads to perinatal lethality due to severe neural tube closure defects (Murdoch et al., 2003). ... Thus, the defect in PRLR signaling observed in shSCRIB cells can be rescued by increasing the level of JAK2 to compensate for ... S3F). The defect in proliferation was specific to differentiation conditions and not observed in monolayers under serum ...
Neural Tube Defects and Craniosynostosis Dr. Kalpana Malla MD Pediatrics … ... 9. TYPES OF NTD PRIMARY -95% of all NTD Primary failure of closure/disruption of NT btw 18-28 days.Eg. -Myelomeningocele ... 5. Neural tube defectsNeural tube defect - Failure of closure of Neural tubes ... Neural tube defects: Importance of ... by Vijaya Sawant,PMP... 5793 views * Neural tube defects by carlos d. ramos-p... 21456 ...
Neural tube defects 7 Vasogenic edema Disruption of blood-brain barrier or cerebral capillaries (trauma, tumors, inflammation, ... Cephalic end of neural tube fails to close, resulting in absence of large part of brain and skull ...
Disruption of the N-WASp gene in mice causes defects in neural tube formation and cardiovascular development that result in ... Targeted disruption of the WAVE-1 gene generated mice with reduced anxiety, sensorimotor retardation, and deficits in ... Brain hemorrhage detection by artificial neural network. A deep-learning algorithm could potentially improve diagnosis and ... which have documented defects in Purkinje cells (36-39). These cells represent the sole synaptic output from the cerebellum (40 ...
... neural tube defects, and cancer. Such disruption can occur in the presence of deficiencies in the two essential micronutrients ... have been associated with an increased incidence of neural tube defects, vascular disease, and some cancers. Polymorphic ... baseline homocysteine levels in the serum and is associated with increased risk of vascular disease and neural tube defects (6 ... Homocysteine accumulation is associated with cardiovascular and neural tube malformations; deoxyuridine monophosphate ...
J. N. Murdoch, D. J. Henderson, K. Doudney et al., "Disruption of scribble (Scrb1) causes severe neural tube defects in the ... has disruption of Ptk7 protein and exhibits defects in neural tube, heart and lung development and abnormal planar cell ... Dvl1/Dvl2 double mutants develop the neural tube defect craniorachischisis [37], which is associated with disruption of PCP ... Z. Kibar, S. Salem, C. Bosoi et al., "Contribution of VANGL2 mutations to isolated neural tube defects," Clinical Genetics, vol ...
... pathway genes have been shown to cause neural tube defects (NTDs) through the disruption of normal morphogenetic processes... ... Neural tube defects (NTDs) resulting from the failure of neural tube closure (NTC) are among the most common and severe forms ... pathway genes have been shown to cause neural tube defects (NTDs) through the disruption of normal morphogenetic processes ... Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis. Birth Defects Res A Clin Mol Teratol. ...
1996). "PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida". J. Med. ... 1998). "Targeted disruption of Pax1 defines its null phenotype and proves haploinsufficiency". Proc. Natl. Acad. Sci. U.S.A. 95 ...
  • BACKGROUND/PURPOSE: The long-term urologic outcome in a large series of patients with neural tube defects was evaluated. (aahd.us)
  • CDC uses a standard case definition for birth defects potentially associated with Zika virus infection. (cdc.gov)
  • Of great concern to pediatricians and cardiac surgeons are outflow tract defects, because babies that suffer from these problems typically require urgent and complex surgeries shortly after birth. (hindawi.com)
  • In birth defects surveillance, a pattern of multiple anomalies that occur with a higher than random frequency, and that is not a sequence or a syndrome. (cdc.gov)
  • These inborn errors result in elevation of either homocysteine or methylmalonic acid, or both, in blood and urine, and can lead to human birth defects, including cardiovascular defects and facial dysmorphology. (mdpi.com)
  • Veratrum alkaloids and distal inhibitors of cholesterol biosynthesis have been studied for more than 30 years as potent teratogens capable of inducing cyclopia and other birth defects. (sdbonline.org)
  • Population-based birth defects surveillance systems are critical to monitor all infants and fetuses with birth defects potentially related to Zika virus infection, regardless of known exposure or laboratory evidence of Zika virus infection during pregnancy. (cdc.gov)
  • CDC analyzed data from 15 U.S. jurisdictions conducting population-based surveillance for birth defects potentially related to Zika virus infection. (cdc.gov)
  • In areas with local transmission there was a non-statistically significant increase in total birth defects potentially related to Zika virus infection from 2.8 cases per 1,000 live births in the first half of 2016 to 3.0 cases in the second half (p = 0.10). (cdc.gov)
  • were excluded, the prevalence of birth defects strongly linked to congenital Zika virus infection increased significantly, from 2.0 cases per 1,000 live births in the first half of 2016 to 2.4 cases in the second half, an increase of 29 more cases than expected (p = 0.009). (cdc.gov)
  • These findings underscore the importance of surveillance for birth defects potentially related to Zika virus infection and the need for continued monitoring in areas at risk for Zika. (cdc.gov)
  • In 2016, as part of the emergency response to the Zika virus outbreak in the World Health Organization’s Region of the Americas, population-based birth defects surveillance systems monitored fetuses and infants with birth defects potentially related to Zika virus infection using a standard case definition and multiple data sources. (cdc.gov)
  • Medical records were abstracted for data on birth defects, congenital infections, pregnancy outcome, head circumference, vital status, and Zika laboratory test results, irrespective of maternal Zika virus exposure or infection. (cdc.gov)
  • Verbatim text describing the birth defects was reviewed to identify those that met the case definition. (cdc.gov)
  • A birth defect , also known as a congenital disorder , is a condition present at birth regardless of its cause. (wikipedia.org)
  • Birth defects may result in disabilities that may be physical , intellectual , or developmental . (wikipedia.org)
  • Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. (wikipedia.org)
  • Some birth defects include both structural and functional disorders. (wikipedia.org)
  • Birth defects may result from genetic or chromosomal disorders , exposure to certain medications or chemicals, or certain infections during pregnancy . (wikipedia.org)
  • Birth defects may be visible at birth or diagnosed by screening tests . (wikipedia.org)
  • A number of defects can be detected before birth by different prenatal tests . (wikipedia.org)
  • Birth defects affected about 96 million people as of 2015. (wikipedia.org)
  • Birth defect is a widely used term for a congenital malformation, i.e. a congenital, physical anomaly that is recognizable at birth , and which is significant enough to be considered a problem. (wikipedia.org)
  • According to the Centers for Disease Control and Prevention (CDC), most birth defects are believed to be caused by a complex mix of factors including genetics, environment, and behaviors, though many birth defects have no known cause. (wikipedia.org)
  • An example of a birth defect is cleft palate , which occurs during the fourth through seventh weeks of gestation. (wikipedia.org)
  • Birth Defects Res. (edu.au)
  • By controlling the time and place at which tumor initiation occurs, one can bypass nonspecific birth defects associated with the broad expression of oncogenes (or due to the absence of tumor suppressors), thereby controlling the precise moment and cell type in which tumor initiation events occur. (aacrjournals.org)
  • Multiple laboratories have attempted to develop a mouse model of alveolar rhabdomyosarcoma by expression of the Pax3:Fkhr oncogene in the early embryo, but in each case, birth defects precluded the somatic formation of muscle cancers. (aacrjournals.org)
  • While in utero cannabis exposure has been associated with early pregnancy failure, birth defects and developmental delay, the mechanisms of such outcomes are largely unexplained. (biomedcentral.com)
  • The Slone Epidemiology Center is participating in the Massachusetts Center for Birth Defects Research and Prevention , one of seven such centers currently funded by the National Center on Birth Defects and Developmental Disabilities (CDC). (bu.edu)
  • These centers conduct surveillance and research aimed at the prevention of birth defects. (bu.edu)
  • The Center's work includes two national case-control studies to identify risk factors for birth defects. (bu.edu)
  • The first, conducted between 1997 and 2013, was called the National Birth Defects Prevention Study (NBDPS). (bu.edu)
  • It was followed in 2014 by the Birth Defects Study to Evaluate Pregnancy Exposures (BD-STEPS). (bu.edu)
  • Slone's role involves contributing to the overall planning and conduct of the Massachusetts Center, participation in the design and analysis of the national study, and conduct of birth defect research that is not part of the national study but contributes to the centers' objectives. (bu.edu)
  • Ondansetron for treatment of nausea and vomiting of pregnancy and the risk of specific birth defects. (bu.edu)
  • Metformin in the first trimester and risks for specific birth defects in the National Birth Defects Prevention Study. (bu.edu)
  • Birth Defects Res A Clin Mol Teratol 2018;110(7):579-86. (bu.edu)
  • Safety of the 2010-11, 2011-12, 2012-13, and 2013-14 seasonal influenza vaccines in pregnancy: birth defects, spontaneous abortion, preterm delivery, and small for gestational age infants. (bu.edu)
  • Application of data screening to drug exposure in large risk factor studies of birth defects. (bu.edu)
  • Birth Defects Res A Clin Mol Teratol 2015;103(8):713-7. (bu.edu)
  • Spatial analysis of gastroschisis in the National Birth Defects Prevention Study. (bu.edu)
  • Birth Defects Res A Clin Mol Teratol 2015;103(6):544-53. (bu.edu)
  • Infection of the lesion and consequent bacterial menengitis will worsen the situation so that closure of the skin defect should be done soon after birth. (uct.ac.za)
  • Explain to patients who are pregnant or planning to become pregnant that taking an NSAID during the first trimester of pregnancy and thereafter may increase the risk of birth defects, especially heart anomalies. (medpagetoday.com)
  • According to a population-based, nested case-control study of 36,387 pregnant women in Quebec province, women who filled NSAID prescriptions early in pregnancy had more than twice the risk for any congenital defect, reported Anick Berard, Ph.D., of Sainte-Justine Hospital, and colleagues, in the September issue of Birth Defects Research Part B . (medpagetoday.com)
  • Such disruption can occur in the presence of deficiencies in the two essential micronutrients involved in this metabolism: folate and cobalamin (vitamin B 12 ). (pnas.org)
  • Consuming adequate folate also substantially reduces the risk of neural tube defects in unborn babies. (cancercouncil.com.au)
  • A low serum folate concentration may result from either from a poor dietary intake or a disruption in the folate metabolism by the use of anti-epileptic drugs (valproic acid) or a genetic methylenetetrahydrofolate reductase deficiency. (perinatal.nhs.uk)
  • [ 10 ] Exposure to agents that interfere with normal folate metabolism during the critical period of neural tube development (up to 6 weeks after last menstrual period) increases the likelihood of an NTD. (medscape.com)
  • A lack of folate is thought to adversely affect cell division during the critical period of neural tube closure in the first trimester. (uct.ac.za)
  • In some countries, legislation requires certain foods to be fortified with folate, and this has been shown to reduce the incidence of neural tube defects in the population. (uct.ac.za)
  • During spinal neurulation, the neural folds become apposed medially, narrowing the PNP and uniting at the zippering point to create the roof of the newly formed NT, which is covered by surface ectoderm (SE). (biologists.org)
  • This recently described closure point is characterised by a change in PNP shape from a spade-like to elliptical morphology, in which the elevated neural folds are encircled by an F-actin ring-like structure with cytoskeleton-rich protrusions forming at the caudal canthus of the PNP. (biologists.org)
  • Approximately 18 days after conception, the neural plate folds inward to form a central neural groove and bilateral neural folds. (glowm.com)
  • Development of the central nervous system requires orchestration of morphogenetic processes which drive elevation and apposition of the neural folds and their fusion into a neural tube. (xenbase.org)
  • We demonstrate a significant association between non neural tube CNS anomalies and recreational drug use in the periconceptual period, first or second trimesters, but we cannot confirm this association with gastroschisis. (plos.org)
  • Scientists are also concentrating their efforts on understanding the complex processes responsible for normal early development of the brain and nervous system and how the disruption of any of these processes results in congenital anomalies such as cephalic disorders. (nih.gov)
  • Although at first there appeared to be an association with respiratory system defects, the association disappeared when further analysis in which anomalies defined as "unspecified" were excluded, the researchers said. (medpagetoday.com)
  • One proposal for the pathogenic mechanisms of congenital cardiovascular anomalies is that forces generated within the developing heart tube with the initiation of cardiac contractions, combined with the secondary hemodynamic forces produced by blood flowing through cardiovascular structures, influence cell behavior, vessel and chamber size, and myocardial mass. (medpagetoday.com)
  • In addition, TULP3 is required for proper Shh-dependent limb patterning and for maintaining the correct balance between differentiation and proliferation in the neural tube. (nih.gov)
  • Fyn is a prototype Src-family tyrosine kinase that plays specific roles in neural development, keratinocyte differentiation, and lymphocyte activation, as well as roles redundant with other Src-family kinases. (asm.org)
  • Disrupting the normal activity of these pathways can significantly alter many vital in utero processes, including angiogenesis, cellular replication, tissue differentiation, and neural cognitive development. (biomedcentral.com)
  • Accordingly, we found that Geminin and Zic1 could cooperatively activate the expression of several shared targets encoding transcription factors that control neurogenesis, neural plate patterning, and neuronal differentiation. (wustl.edu)
  • Nog is also expressed in condensing cartilage in the limb and in the sclerotome of somites so its loss results in defects in cartilage patterning and skeletal morphogenesis. (jax.org)
  • However, the subsequent defect is the maldevelopment of the mesoderm, which, in turn, forms the skeletal and muscular structures that cover the underlying neural structures. (medscape.com)
  • Gingivae Contain Neural-crest- and Mesoderm-derived Mesenchymal Stem Cells. (ebscohost.com)
  • The percentage of cleft lip and palate was similar among those who used NSAIDS and those who did not, nor were there associations with musculoskeletal and neural-tube defects between the two groups, they added. (medpagetoday.com)
  • PTK7 knock-down in Xenopus furthermore caused defects in migration of cranial neural crest cells , very similar to animals in which the function of Dishevelled, an intracellular component of Wnt signaling, has been impaired . (prolekare.cz)
  • However, it is unknown whether the GMSCs are derived from cranial neural. (ebscohost.com)
  • Phenotypes such as ENS deficiency, hypopigmentation and some of the neurological defects are reported in patients with Hirschsprung disease (HSCR). (ebscohost.com)
  • Also, note the neural placode plastered to the dorsal surface of the sac. (medscape.com)
  • In Tulp3 mutants, ventral cell types in the lumbar neural tube, which acquire their identities in response to Shh signaling, are ectopically specified at the expense of dorsal cell types. (nih.gov)
  • Dorsal restriction of Pax6 was seen at both levels of the mutant neural tube, whereas expansion of the Shh+ domain was seen only at more anterior levels (flank). (nih.gov)
  • Taken together, these results indicate that PDGFRalpha downstream effectors, especially PI3K, are essential for cell migration of a somite-derived dorsal mesenchyme and disruption of receptor signaling in these cells leads to spina bifida. (blogspot.com)
  • Perturbation of Hoxb5 signaling in these NCC resulted in Sox9 downregulation, NCC apoptosis, hypoplastic sympathetic and dorsal root ganglia, hypopigmentation and ENS defects. (ebscohost.com)
  • E12.5 Tulp3 mutant limbs show an increased number of digit rays as outlined by Sox9 expression, and disruption of A-P polarity as indicated by expansion of Hoxd12 expression into the anterior mesenchyme (arrowheads). (nih.gov)