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Miller–Dieker Syndrome
Miller–Dieker syndrome, also called Miller–Dieker lissencephaly syndrome (MDLS) or chromosome 17p13.3 deletion syndrome, is a micro deletion syndrome characterized by congenital malformations. Congenital malformations are physical defects detectable in an infant at birth which can involve many different parts of the body, including the brain, heart, lungs, liver, bones, or intestinal tract. MDS is a contiguous gene syndrome – a disorder due to the deletion of multiple gene loci adjacent to one another. The disorder arises from the deletion of part of the small arm of chromosome 17p (which includes both the '' LIS1'' and '' 14-3-3 epsilon'' genes), leading to partial monosomy. There may be unbalanced translocations (e.g., 17q:17p or 12q:17p), or the presence of a ring chromosome 17. This syndrome is unrelated to Miller syndrome, a rare genetic disorder, or Miller Fisher syndrome, a form of Guillain–Barré syndrome. Presentation The brain is abnormally smooth, with fewe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Micro Deletion Syndrome
Micro may refer to: Measurement * micro- (μ), a metric prefix denoting a factor of 10−6 Places * Micro, North Carolina, town in U.S. People * DJ Micro, (born Michael Marsicano) an American trance DJ and producer * Chii Tomiya (都宮 ちい, born 1991), Japanese female professional wrestler, ring name Micro * Micro, Nishimiya Yūki (born 1980), Japanese musician, member of the pop band Def Tech Arts, entertainment, and media * Micro (comics), often known as Micro, a character in Marvel Comics * ''Micro'' (novel), techno-thriller by Michael Crichton, published posthumously in 2011 * Micro (Thai band), a Thai rock band formed in 1983 * ''IEEE Micro'', a peer-reviewed scientific journal * International Symposium on Microarchitecture, an academic conference focus on microarchitecture * Micromanagement (gameplay), the handling of detailed gameplay elements, such as individual units in realtime strategy games Brands and enterprises * Micro Cars, Sri Lankan automobile com ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypotonia
Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but it is a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. Hypotonia is a lack of resistance to passive movement whereas muscle weakness results in impaired active movement. Central hypotonia originates from the central nervous system, while peripheral hypotonia is related to problems within the spinal cord, peripheral nerves, and/or skeletal muscles. Severe hypotonia in infancy is commonly known as floppy baby syndrome. Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but medical diagnosis, diagnosing the underlying cause can be difficult and often unsuccessful. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the mus ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology (physical form and structure), its developmental processes, its biochemical and physiological properties, and its behavior. An organism's phenotype results from two basic factors: the expression of an organism's genetic code (its genotype) and the influence of environmental factors. Both factors may interact, further affecting the phenotype. When two or more clearly different phenotypes exist in the same population of a species, the species is called polymorphic. A well-documented example of polymorphism is Labrador Retriever coloring; while the coat color depends on many genes, it is clearly seen in the environment as yellow, black, and brown. Richard Dawkins in 1978 and again in his 1982 book '' The Extended Phenotype'' suggested that one can regard bird nests and other built structures such as caddisfly larva cases and beaver dams ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Microdeletion
In genetics, a deletion (also called gene deletion, deficiency, or Deletion anomaly, deletion mutation) (sign: delta (letter), Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication. Any number of nucleotides can be deleted, from a single Nucleobase, base to an entire piece of chromosome. Some chromosomes have fragile spots where breaks occur, which result in the deletion of a part of the chromosome. The breaks can be induced by heat, viruses, radiation, or chemical reactions. When a chromosome breaks, if a part of it is deleted or lost, the missing piece of chromosome is referred to as a deletion or a deficiency. For synapsis to occur between a chromosome with a large intercalary deficiency and a normal complete homolog, the unpaired region of the normal homolog must loop out of the linear structure into a deletion or compensation loop. The smallest single base deletion mutations occur by a single DNA base ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fluorescence In Situ Hybridization
Fluorescence ''in situ'' hybridization (FISH) is a molecular cytogenetic technique that uses fluorescent probes that bind to only particular parts of a nucleic acid sequence with a high degree of sequence complementarity. It was developed by biomedical researchers in the early 1980s to detect and localize the presence or absence of specific DNA sequences on chromosomes. Fluorescence microscopy can be used to find out where the fluorescent probe is bound to the chromosomes. FISH is often used for finding specific features in DNA for use in genetic counseling, medicine, and species identification. FISH can also be used to detect and localize specific RNA targets (mRNA, lncRNA and miRNA) in cells, circulating tumor cells, and tissue samples. In this context, it can help define the spatial-temporal patterns of gene expression within cells and tissues. Probes – RNA and DNA In biology, a probe is a single strand of DNA or RNA that is complementary to a nucleotide sequence of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Balanced Translocation
In genetics, chromosome translocation is a phenomenon that results in unusual rearrangement of chromosomes. This includes "balanced" and "unbalanced" translocation, with three main types: "reciprocal", "nonreciprocal" and "Robertsonian" translocation. Reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes. Two detached fragments of two different chromosomes are switched. Robertsonian translocation occurs when two non-homologous chromosomes get attached, meaning that given two healthy pairs of chromosomes, one of each pair "sticks" and blends together homogeneously. Each type of chromosomal translocation can result in disorders for growth, function and the development of an individuals body, often resulting from a change in their genome. A gene fusion may be created when the translocation joins two otherwise-separated genes. It is detected on cytogenetics or a karyotype of affected cells. Translocations can be balanced ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
YWHAE
14-3-3 protein epsilon is a protein that in humans is encoded by the ''YWHAE'' gene. Function This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung cancer, and microdeletions associated with Miller–Dieker syndrome. Interactions YWHAE has been shown to interact with: * C-Raf, * CDC25B, * HDAC4, * HERG, * IRS1 and * IGF1R, * MAP3K3, * NDEL1, * NGFRAP1, and * TGF beta 1. See also * 14-3-3 protein 14-3-3 proteins are a family of conserved regulatory molecules that are e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lissencephaly
Lissencephaly (, meaning 'smooth brain') is a set of rare brain disorders whereby the whole or parts of the surface of the brain are smooth. It is caused by defective neuronal migration during the 12th to 24th weeks of gestation, resulting in a lack of development of brain folds (gyri) and grooves (sulci). It is a form of cephalic disorder. Terms such as ''agyria'' (no gyri) and '' pachygyria'' (broad gyri) are used to describe the appearance of the surface of the brain. Children with lissencephaly generally have significant developmental delays, but these vary greatly from child to child depending on the degree of brain malformation and seizure control. Life expectancy can be shortened, generally due to respiratory problems. Signs and symptoms Affected children display severe psychomotor impairment, failure to thrive, seizures, and muscle spasticity or hypotonia. Other symptoms of the disorder may include unusual facial appearance, difficulty swallowing, and anomalies of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 17
Chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 17 spans more than 84 million base pairs (the building material of DNA) and represents between 2.5 and 3% of the total DNA in cells. Chromosome 17 contains the Homeobox B gene cluster. Genes Number of genes The following are some of the gene count estimates of human chromosome 17. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). The most conservative estimate, from CCDS, represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 17. For complete list, see the link in the infobox on the right. The following are some of the genes and their corresponding Cytogenetic location on chromosome 17: p-arm q-arm Diseases and disord ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PAFAH1B1
Platelet-activating factor acetylhydrolase IB subunit alpha or Lisencephaly protein-1 (LIS-1) is an enzyme that in humans is encoded by the ''PAFAH1B1'' gene. The protein plays an important role in regulating the motor protein dynein. Function ''PAFAH1B1'' was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller–Dieker syndrome. ''PAFAH1B1'' encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acetylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the stereospecific numbering, ''sn''-2 position of platelet-activating factor (identified as 1-''O''-alkyl-2-acetyl-''sn''-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. According to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Infancy
In common terminology, a baby is the very young offspring of adult human beings, while infant (from the Latin word ''infans'', meaning 'baby' or 'child') is a formal or specialised synonym. The terms may also be used to refer to juveniles of other organisms. A newborn is, in colloquial use, a baby who is only hours, days, or weeks old; while in medical contexts, a newborn or neonate (from Latin, ''neonatus'', newborn) is an infant in the first 28 days after birth (the term applies to premature, full term, and postmature infants). Infants born prior to 37 weeks of gestation are called "premature", those born between 39 and 40 weeks are "full term", those born through 41 weeks are "late term", and anything beyond 42 weeks is considered "post term". Before birth, the offspring is called a fetus. The term ''infant'' is typically applied to very young children under one year of age; however, definitions may vary and may include children up to two years of age. When a human chi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Death
Death is the end of life; the irreversible cessation of all biological functions that sustain a living organism. Death eventually and inevitably occurs in all organisms. The remains of a former organism normally begin to decompose shortly after death. Some organisms, such as '' Turritopsis dohrnii'', are biologically immortal; however, they can still die from means other than aging. Death is generally applied to whole organisms; the equivalent for individual components of an organism, such as cells or tissues, is necrosis. Something that is not considered an organism, such as a virus, can be physically destroyed but is not said ''to die'', as a virus is not considered alive in the first place. As of the early 21st century, 56 million people die per year. The most common reason is aging, followed by cardiovascular disease, which is a disease that affects the heart or blood vessels. As of 2022, an estimated total of almost 110 billion humans have died, or rou ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
