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Anencephaly
Anencephaly is the absence of a major portion of the brain, skull, and scalp that occurs during embryonic development. It is a cephalic disorder that results from a neural tube defect that occurs when the rostral (head) end of the neural tube fails to close, usually between the 23rd and 26th day following conception. Strictly speaking, the Greek term translates as "without a brain" (or totally lacking the inside part of the head), but it is accepted that children born with this disorder usually only lack a telencephalon, the largest part of the brain consisting mainly of the cerebral hemispheres, including the neocortex, which is responsible for cognition. The remaining structure is usually covered only by a thin layer of membrane—skin, bone, meninges, etc., are all lacking. With very few exceptions, infants with this disorder do not survive longer than a few hours or days after birth. Anencephaly is a severe neural tube defect typically considered incompatible with prolonge ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neural Tube Defect
Neural tube defects (NTDs) are a group of birth defects in which an opening in the spine or cranium remains from early in human development. In the third week of pregnancy called gastrulation, specialized cells on the dorsal side of the embryo begin to change shape and form the neural tube. When the neural tube does not close completely, an NTD develops. Specific types include: spina bifida which affects the spine, anencephaly which results in little to no brain, encephalocele which affects the skull, and iniencephaly which results in severe neck problems. NTDs are one of the most common birth defects, affecting over 300,000 births each year worldwide. For example, spina bifida affects approximately 1,500 births annually in the United States, or about 3.5 in every 10,000 (0.035% of US births), which has decreased from around 5 per 10,000 (0.05% of US births) since folate fortification of grain products was started. The number of deaths in the US each year due to neural tu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NUAK2
NUAK family SNF1-like kinase 2 also known as SNF1/AMP kinase-related kinase (SNARK) is an enzyme that in humans is encoded by the ''NUAK2'' gene. Its deficiency in humans causes anencephaly, a severe form of anterior neural tube defect Neural tube defects (NTDs) are a group of birth defects in which an opening in the spine or cranium remains from early in human development. In the third week of pregnancy called gastrulation, specialized cells on the dorsal side of the embryo ... that curtails brain development. References Further reading * * * * * * * * * * * * EC 2.7.11 {{gene-1-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bruno Reversade
Bruno Reversade (born 1978) is an American human geneticist and developmental biologist . He is a Director of the Institute of Molecular and Cellular Biology and the Genome Institute of Singapore at A*STAR (Singapore) and holds several faculty positions at other universities. Reversade is known for identifying mutated genes that cause Mendelian diseases, for his research on the genetics of identical twins and for the characterizations of novel hormones. Early life and education Bruno Reversade was born in 1974 into a French-American family. He was raised in Grenoble (France) and Washington, D.C. ( US). Bruno Reversade studied at the University Joseph Fourier, Pierre and Marie Curie University and UCLA. Scientific career Reversade became interested in developmental biology in 1997 when studying at the University of Western Ontario (Canada) under the tutelage of Greg Kelly. He earned his master's degree at the Pasteur Institute (Paris, France), where he studied head developmen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Folic Acid
Folate, also known as vitamin B9 and folacin, is one of the B vitamins. Manufactured folic acid, which is converted into folate by the body, is used as a dietary supplement and in food fortification as it is more stable during processing and storage. Folate is required for the body to make DNA and RNA and metabolise amino acids necessary for cell division and maturation of blood cells. As the human body cannot make folate, it is required in the diet, making it an Nutrient#Essential nutrients, essential nutrient. It occurs naturally in many foods. The recommended adult daily intake of folate in the U.S. is 400 micrograms from foods or dietary supplements. Folate in the form of folic acid is used to treat anemia caused by folic acid deficiency, folate deficiency. Folic acid is also used as a supplement by women during pregnancy to reduce the risk of neural tube defects (NTDs) in the baby. NTDs include anencephaly and spina bifida, among other defects. Low levels in early pregna ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TEAD2
TEAD2 (ETF, ETEF-1, TEF-4), together with TEAD1, defines a novel family of transcription factors, the TEAD family, highly conserved through evolution. TEAD proteins were notably found in ''Drosophila'' (Scalloped), '' C. elegans'' (egl -44), '' S. cerevisiae'' and '' A. nidulans''. TEAD2 has been less studied than TEAD1 but a few studies revealed its role during development. Function TEAD2 is a member of the mammalian TEAD transcription factor family (initially named the transcriptional enhancer factor (TEF) family), which contain the TEA/ATTS DNA-binding domain. Members of the family in mammals are TEAD1, TEAD2, TEAD3, TEAD4. Tissue distribution TEAD2 is selectively expressed in a subset of embryonic tissues including the cerebellum, testis, and distal portions of the forelimb and hindlimb buds, as well as the tail bud, but it is essentially absent from adult tissues. TEAD2 has also been shown to be expressed very early during development, i.e. from the 2-cell stage. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neural Tube
In the developing chordate (including vertebrates), the neural tube is the embryonic precursor to the central nervous system, which is made up of the brain and spinal cord. The neural groove gradually deepens as the neural folds become elevated, and ultimately the folds meet and coalesce in the middle line and convert the groove into the closed neural tube. In humans, neural tube closure usually occurs by the fourth week of pregnancy (the 28th day after conception). Development The neural tube develops in two ways: primary neurulation and secondary neurulation. Primary neurulation divides the ectoderm into three cell types: * The internally located neural tube * The externally located epidermis * The neural crest cells, which develop in the region between the neural tube and epidermis but then migrate to new locations # Primary neurulation begins after the neural plate forms. The edges of the neural plate start to thicken and lift upward, forming the neural folds. The center ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cephalic Disorder
Cephalic disorders () are Congenital disorder, congenital conditions that stem from damage to, or abnormal development of, the budding nervous system. Cephalic disorders are not necessarily caused by a single factor, but may be influenced by heredity, hereditary or genetics, genetic conditions, nutritional deficiencies, or by environmental exposures during pregnancy, such as medication taken by the mother, maternal infection, or exposure to radiation. Some cephalic disorders occur when the cranial sutures (the fibrous joints that connect the bones of the human skull, skull) join prematurely. Most cephalic disorders are caused by a disturbance that occurs very early in the development of the fetus, fetal nervous system. The human nervous system develops from a small, specialized plate of cell (biology), cells on the surface of the embryo. Early in development, this plate of cells forms the neural tube, a narrow sheath that closes between the third and fourth weeks of pregnancy to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anticonvulsant
Anticonvulsants (also known as antiepileptic drugs, antiseizure drugs, or anti-seizure medications (ASM)) are a diverse group of pharmacological agents used in the treatment of epileptic seizures. Anticonvulsants are also used in the treatment of bipolar disorder and borderline personality disorder, since many seem to act as mood stabilizers, and for the treatment of neuropathic pain. Anticonvulsants suppress the uncontrolled and excessive firing of neurons during seizures and in doing so can also prevent the spread of the seizure within the brain. Conventional antiepileptic drugs have diverse mechanisms of action but many block sodium channels or enhance γ-aminobutyric acid ( GABA) function. Several antiepileptic drugs have multiple or uncertain mechanisms of action. Next to voltage-gated sodium channels and components of the GABA system, their targets include GABAA receptors, the GABA transporter type 1, and GABA transaminase. Additional targets include voltage-gate ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be inherited from two parents who are carriers of a faulty gene ( autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndrome
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek language, Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that disease#Terminology, the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of heredity, inherited syndromes. About one third of all phenotypes that are listed in Online Mendelian Inheritance in Man, OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of sig ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Disease
A disease is a particular abnormal condition that adversely affects the structure or function (biology), function of all or part of an organism and is not immediately due to any external injury. Diseases are often known to be medical conditions that are associated with specific signs and symptoms. A disease may be caused by external factors such as pathogens or by internal dysfunctions. For example, internal dysfunctions of the immune system can produce a variety of different diseases, including various forms of immunodeficiency, hypersensitivity, allergy, allergies, and autoimmune disorders. In humans, ''disease'' is often used more broadly to refer to any condition that causes pain, Abnormality (behavior), dysfunction, distress (medicine), distress, social problems, or death to the person affected, or similar problems for those in contact with the person. In this broader sense, it sometimes includes injury in humans, injuries, disability, disabilities, Disorder (medicine) ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
