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HES7 Gene
(HES7) or bHLHb37 is protein coding mammalian gene found on chromosome 17 in humans. HES7 is a member of the Hairy and Enhancer of Split families of Basic helix-loop-helix proteins. The gene product is a transcription factor and is expressed cyclically in the presomitic mesoderm as part of the Notch signalling pathway. HES7 is involved in the segmentation of somites from the presomitic mesoderm in vertebrates. The HES7 gene is self-regulated by a negative feedback loop in which the gene product can bind to its own promoter. This causes the gene to be expressed in an oscillatory manner. The HES7 protein also represses expression of Lunatic Fringe (LFNG) thereby both directly and indirectly regulating the Notch signalling pathway. Mutations in HES7 can result in deformities of the spine, ribs and heart. Spondylocostal dysostosis is a common disease caused by mutations in the HES7 gene. The inheritance pattern of Spondylocostal dysostosis is autosomal recessive. Gene The HES ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and non-coding genes. During gene expression (the synthesis of Gene product, RNA or protein from a gene), DNA is first transcription (biology), copied into RNA. RNA can be non-coding RNA, directly functional or be the intermediate protein biosynthesis, template for the synthesis of a protein. The transmission of genes to an organism's offspring, is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population (biology), population of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Transcription Factor
In molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription (genetics), transcription of genetics, genetic information from DNA to messenger RNA, by binding to a specific DNA sequence. The function of TFs is to regulate—turn on and off—genes in order to make sure that they are Gene expression, expressed in the desired Cell (biology), cells at the right time and in the right amount throughout the life of the cell and the organism. Groups of TFs function in a coordinated fashion to direct cell division, cell growth, and cell death throughout life; cell migration and organization (body plan) during embryonic development; and intermittently in response to signals from outside the cell, such as a hormone. There are approximately 1600 TFs in the human genome. Transcription factors are members of the proteome as well as regulome. TFs work alone or with other proteins in a complex, by promoting (a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spina Bifida
Spina bifida (SB; ; Latin for 'split spine') is a birth defect in which there is incomplete closing of the vertebral column, spine and the meninges, membranes around the spinal cord during embryonic development, early development in pregnancy. There are three main types: spina bifida occulta, meningocele and myelomeningocele. Meningocele and myelomeningocele may be grouped as spina bifida cystica. The most common location is the Lumbar vertebrae, lower back, but in rare cases it may be in the Thoracic vertebrae, middle back or Cervical vertebrae, neck. Occulta has no or only mild signs, which may include a hairy patch, dimple, dark spot or swelling on the back at the site of the gap in the spine. Meningocele typically causes mild problems, with a sac of fluid present at the gap in the spine. Myelomeningocele, also known as open spina bifida, is the most severe form. Problems associated with this form include poor ability to walk, impaired Neurogenic bladder dysfunction, bladder o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Scoliosis
Scoliosis (: scolioses) is a condition in which a person's Vertebral column, spine has an irregular curve in the coronal plane. The curve is usually S- or C-shaped over three dimensions. In some, the degree of curve is stable, while in others, it increases over time. Mild scoliosis does not typically cause problems, but more severe cases can affect breathing and movement. Pain is usually present in adults, and can worsen with age. As the condition progresses, it may alter a person's life, and hence can also be considered a disability. It can be compared to kyphosis and lordosis, other abnormal curvatures of the spine which are in the sagittal plane (front-back) rather than the coronal (left-right). The cause of most cases is unknown, but it is believed to involve a combination of Genetics, genetic and environmental factors. Scoliosis most often occurs during growth spurts right before puberty. Risk factors include other affected family members. It can also occur due to anoth ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Situs Inversus
''Situs inversus'' (also called ''situs transversus'' or ''oppositus'') is a Congenital disorder, congenital condition in which the major Organ (anatomy), visceral organs are reversed or mirror image, mirrored from their normal positions. The normal arrangement of internal organs is known as ''situs solitus''. Although cardiac problems are more common, many people with ''situs inversus'' have no medical symptoms or complications resulting from the condition, and until the advent of modern medicine, it was usually undiagnosed. ''Situs inversus'' is found in about 0.01% of the population, or about 1 person in 10,000. In the most common situation, ''situs inversus totalis'', it involves complete transposition (right to left reversal) of all of the viscera. The heart is not in its usual position in the left chest, but is on the right, a condition known as ''dextrocardia'' (). Because the relationship between the organs is not changed, most people with ''situs inversus'' have no associa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dextrocardia
Dextrocardia () is a rare congenital condition in which the apex of the heart is located on the right side of the body, rather than the more typical placement towards the left. There are two main types of dextrocardia: dextrocardia of embryonic arrest (also known as isolated dextrocardia) and dextrocardia ''situs inversus''. Dextrocardia ''situs inversus'' is further divided. Classification Dextrocardia of embryonic arrest In this form of dextrocardia, the heart is simply placed further right in the thorax than is normal. It is commonly associated with severe defects of the heart and related abnormalities including pulmonary hypoplasia. Dextrocardia situs solitus Dextrocardia refers to a heart positioned in the right side of the chest. Situs solitus describes viscera that are in the normal position, with the stomach on the left side. Dextrocardia situs inversus Dextrocardia situs inversus refers to the heart being a mirror image situated on the right side. For all visceral ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Scoliosis
Scoliosis (: scolioses) is a condition in which a person's Vertebral column, spine has an irregular curve in the coronal plane. The curve is usually S- or C-shaped over three dimensions. In some, the degree of curve is stable, while in others, it increases over time. Mild scoliosis does not typically cause problems, but more severe cases can affect breathing and movement. Pain is usually present in adults, and can worsen with age. As the condition progresses, it may alter a person's life, and hence can also be considered a disability. It can be compared to kyphosis and lordosis, other abnormal curvatures of the spine which are in the sagittal plane (front-back) rather than the coronal (left-right). The cause of most cases is unknown, but it is believed to involve a combination of Genetics, genetic and environmental factors. Scoliosis most often occurs during growth spurts right before puberty. Risk factors include other affected family members. It can also occur due to anoth ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Somite
The somites (outdated term: primitive segments) are a set of bilaterally paired blocks of paraxial mesoderm that form in the embryogenesis, embryonic stage of somitogenesis, along the head-to-tail axis in segmentation (biology), segmented animals. In vertebrates, somites subdivide into the #Dermatome, dermatomes, #Myotome, myotomes, #Sclerotome, sclerotomes and #Syndetome, syndetomes that give rise to the vertebrae of the vertebral column, rib cage, part of the occipital bone, skeletal muscle, cartilage, tendons, and dermis, skin (of the back). The word ''somite'' is sometimes also used in place of the word ''Metamerism (biology), metamere''. In this definition, the somite is a Homology (biology), homologously-paired structure in an animal body plan, such as is visible in annelids and arthropods. Development The mesoderm forms at the same time as the other two germ layers, the ectoderm and endoderm. The mesoderm at either side of the neural tube is called paraxial mesoderm. I ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Somitogenesis
Somitogenesis is the process by which somites form. Somites are bilaterally paired blocks of paraxial mesoderm that form along the anterior-posterior axis of the developing embryo in vertebrates. The somites give rise to skeletal muscle, cartilage, tendons, endothelium, and dermis. Overview During somitogenesis, somites form from the pre-somitic mesoderm, a region of mesoderm at the posterior of the developing embryo. This tissue undergoes convergent extension as the primitive streak regresses, or as the embryo gastrulates. The notochord extends from the base of the head to the tail; with it extend thick bands of paraxial mesoderm. As the primitive streak continues to regress, somites form from the pre-somitic mesoderm by 'budding off' periodically from the anterior end of the pre-somitic mesoderm. The underlying developmental signals controlling this periodic formation are thought to conform to a clock-wavefront model. These immature somites then are compacted into an oute ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Coats Plus Syndrome
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Coats may refer to: People *Coats (surname) Places * Coats, Kansas, US * Coats, North Carolina, US *Coats Island, Nunavut, Canada *Coats Land, region of Antarctica Other uses *Coat (clothing), an outer garment *Coats' disease, a human eye disorder *Coats Mission, British military mission 1941–42 *Coats Group, a multinational sewing and needlecraft supplies manufacturer *Coats Steam Car, American automobile manufactured 1922–23 *Stewart-Coats, American automobile manufactured only in 1922 *Cadet Organizations Administration and Training Service, a sub-component of the Canadian Forces Reserves See also *Coat (other) *Coates (other) *Cotes (other) Cotes may refer to: Placename * Cotes, Cumbria, a village in England * Cotes, Leicestershire, a village in England * Cotes, Staffordshire, a village in England; see List of United Kingdom locations: Cos-Cou * Cotes, Valencia, a municipality in ... [...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] |
Base Pair
A base pair (bp) is a fundamental unit of double-stranded nucleic acids consisting of two nucleobases bound to each other by hydrogen bonds. They form the building blocks of the DNA double helix and contribute to the folded structure of both DNA and RNA. Dictated by specific hydrogen bonding patterns, "Watson–Crick" (or "Watson–Crick–Franklin") base pairs (guanine–cytosine and adenine–thymine) allow the DNA helix to maintain a regular helical structure that is subtly dependent on its nucleotide sequence. The Complementarity (molecular biology), complementary nature of this based-paired structure provides a Redundancy (information theory), redundant copy of the genetic information encoded within each strand of DNA. The regular structure and data redundancy provided by the DNA double helix make DNA well suited to the storage of genetic information, while base-pairing between DNA and incoming nucleotides provides the mechanism through which DNA polymerase replicates DNA and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
