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Meleda Disease
Meleda disease (MDM) or "mal de Meleda", also called Mljet disease, keratosis palmoplantaris and transgradiens of Siemens, (also known as "acral keratoderma", "mutilating palmoplantar keratoderma of the Gamborg-Nielsen type", "palmoplantar ectodermal dysplasia type VIII",Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . and "palmoplantar keratoderma of the Norrbotten type") is an extremely rare autosomal recessive congenital skin disorder in which dry, thick patches of skin develop on the soles of the hands and feet, a condition known as palmoplantar hyperkeratosis.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . Meleda Disease is a skin condition which usually can be identified not long after birth. This is a Genetics, genetic condition but it is very rare. The hands and feet usually are the first to show signs of the disease but the disease ca ...
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Inheritance
Inheritance is the practice of receiving private property, Title (property), titles, debts, entitlements, Privilege (law), privileges, rights, and Law of obligations, obligations upon the death of an individual. The rules of inheritance differ among societies and have changed over time. Officially bequest, bequeathing private property and/or debts can be performed by a testator via will (law), will, as attested by a notary or by other lawful means. Terminology In law, an ''heir'' is a person who is entitled to receive a share of the decedent, deceased's (the person who died) property, subject to the rules of inheritance in the jurisdiction of which the deceased was a citizen or where the deceased (decedent) died or owned property at the time of death. The inheritance may be either under the terms of a will or by intestate laws if the deceased had no will. However, the will must comply with the laws of the jurisdiction at the time it was created or it will be declared invalid ( ...
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Inbreeding
Inbreeding is the production of offspring from the mating or breeding of individuals or organisms that are closely related genetically. By analogy, the term is used in human reproduction, but more commonly refers to the genetic disorders and other consequences that may arise from expression of deleterious or recessive traits resulting from incestuous sexual relationships and consanguinity. Animals avoid incest only rarely. Inbreeding results in homozygosity, which can increase the chances of offspring being affected by recessive traits. In extreme cases, this usually leads to at least temporarily decreased biological fitness of a population (called inbreeding depression), which is its ability to survive and reproduce. An individual who inherits such deleterious traits is colloquially referred to as ''inbred''. The avoidance of expression of such deleterious recessive alleles caused by inbreeding, via inbreeding avoidance mechanisms, is the main selective reason for outcrossin ...
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Cell (biology)
The cell is the basic structural and functional unit of life forms. Every cell consists of a cytoplasm enclosed within a membrane, and contains many biomolecules such as proteins, DNA and RNA, as well as many small molecules of nutrients and metabolites.Cell Movements and the Shaping of the Vertebrate Body
in Chapter 21 of
Molecular Biology of the Cell
'' fourth edition, edited by Bruce Alberts (2002) published by Garland Science. The Alberts text discusses how the "cellular building blocks" move to shape developing embryos. It is also common to describe small molecules such as ...
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Chromosome 8
Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 spans about 145 million base pairs (the building material of DNA) and represents between 4.5 and 5.0% of the total DNA in cells. About 8% of its genes are involved in brain development and function, and about 16% are involved in cancer. A unique feature of 8p is a region of about 15 megabases that appears to have a high mutation rate. This region shows a significant divergence between human and chimpanzee, suggesting that its high mutation rates have contributed to the evolution of the human brain. __TOC__ Genes Number of genes The following are some of the gene count estimates of human chromosome 8. 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). Among various projects, the collaborative consensus coding sequence project ...
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Gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and 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 noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as gen ...
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SLURP1
Secreted Ly-6/uPAR-related protein 1 is a protein that in humans is encoded by the ''SLURP1'' gene In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b .... It exerts anti-inflammatory effects, acts as a tumor suppressor, and antagonizes nicotinic receptors. Function The protein encoded by this gene is a member of the Ly6/uPAR family but lacks a GPI-anchoring signal sequence. It is secreted into the blood and is also sometimes found in semen when extracted into the female zygote which binds to the α7-acetylcholine receptor. It is shown to act as an endogenous tumor suppressor by reducing cell migration and invasion by mediating its own anti-tumor effect and by antagonizing the pro-malignant effects of nicotine. Mutations in this gene have been associated with Mal de Meleda, a rare a ...
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Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication (translesion synthesis). Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ultimate source o ...
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Founder Effect
In population genetics, the founder effect is the loss of genetic variation that occurs when a new population is established by a very small number of individuals from a larger population. It was first fully outlined by Ernst Mayr in 1942, using existing theoretical work by those such as Sewall Wright. As a result of the loss of genetic variation, the new population may be distinctively different, both genotypically and phenotypically, from the parent population from which it is derived. In extreme cases, the founder effect is thought to lead to the speciation and subsequent evolution of new species. In the figure shown, the original population has nearly equal numbers of blue and red individuals. The three smaller founder populations show that one or the other color may predominate (founder effect), due to random sampling of the original population. A population bottleneck may also cause a founder effect, though it is not strictly a new population. The founder effect occurs wh ...
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Mljet
Mljet (; la, Melita, it, Meleda) is the southernmost and easternmost of the larger Adriatic islands of the Dalmatia region of Croatia. The National Park includes the western part of the island, Veliko jezero, Malo jezero, Soline Bay and a sea belt 500 m wide from the most prominent cape of Mljet covering an area of 54 km2. The central parts of the park are Veliko jezero with the Isle of St. Mary, Malo jezero and the villages of Goveđari, Polače and Pomena.Naklad Naprijet, ''The Croatian Adriatic Tourist Guide'', pg. 338, Zagreb (1999), Population According to the 2011 census, Mljet has population of 1,088. Ethnic Croats make up 97.33% of the population. History Mljet was discovered by ancient Greco-Roman geographers, who wrote the first records and descriptions. The island was first described by Scylax of Caryanda in the 6th century BC; others prefer the text, Periplus of Pseudo-Scylax. In both texts, it is named Melite and supported by Apollonius of Rhodes.Bryant, Jacob ...
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Island
An island (or isle) is an isolated piece of habitat that is surrounded by a dramatically different habitat, such as water. Very small islands such as emergent land features on atolls can be called islets, skerries, cays or keys. An island in a river or a lake island may be called an eyot or ait, and a small island off the coast may be called a holm. Sedimentary islands in the Ganges delta are called chars. A grouping of geographically or geologically related islands, such as the Philippines, is referred to as an archipelago. There are two main types of islands in the sea: continental and oceanic. There are also artificial islands, which are man-made. Etymology The word ''island'' derives from Middle English ''iland'', from Old English ''igland'' (from ''ig'' or ''ieg'', similarly meaning 'island' when used independently, and -land carrying its contemporary meaning; cf. Dutch ''eiland'' ("island"), German ''Eiland'' ("small island")). However, the spelling of the word ...
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Dalmatia
Dalmatia (; hr, Dalmacija ; it, Dalmazia; see #Name, names in other languages) is one of the four historical region, historical regions of Croatia, alongside Croatia proper, Slavonia, and Istria. Dalmatia is a narrow belt of the east shore of the Adriatic Sea, stretching from the island of Rab in the north to the Bay of Kotor in the south. The Dalmatian Hinterland ranges in width from fifty kilometres in the north, to just a few kilometres in the south; it is mostly covered by the rugged Dinaric Alps. List of islands of Croatia, Seventy-nine islands (and about 500 islets) run parallel to the coast, the largest (in Dalmatia) being Brač, Pag (island), Pag, and Hvar. The largest city is Split, Croatia, Split, followed by Zadar and Šibenik. The name of the region stems from an Illyrians, Illyrian tribe called the Dalmatae, who lived in the area in classical antiquity. Later it became a Dalmatia (Roman province), Roman province, and as result a Romance languages, Romance culture ...
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Heterozygous
Zygosity (the noun, zygote, is from the Greek "yoked," from "yoke") () is the degree to which both copies of a chromosome or gene have the same genetic sequence. In other words, it is the degree of similarity of the alleles in an organism. Most eukaryotes have two matching sets of chromosomes; that is, they are diploid. Diploid organisms have the same loci on each of their two sets of homologous chromosomes except that the sequences at these loci may differ between the two chromosomes in a matching pair and that a few chromosomes may be mismatched as part of a chromosomal sex-determination system. If both alleles of a diploid organism are the same, the organism is homozygous at that locus. If they are different, the organism is heterozygous at that locus. If one allele is missing, it is hemizygous, and, if both alleles are missing, it is nullizygous. The DNA sequence of a gene often varies from one individual to another. These gene variants are called alleles. While some gen ...
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