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Dermatopathic Pigmentosa Reticularis
Dermatopathia pigmentosa reticularis (DPR) is a rare, autosomal dominant congenital disorder that is a form of ectodermal dysplasia. Dermatopathia pigmentosa reticularis is composed of the triad of generalizereticulate hyperpigmentation noncicatricial alopecia, and onychodystrophy.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . DPR is a non life-threatening disease that largely affects the skin, hair, and nails. It has also been identified as a keratin disorder. Historically, as of 1992, only 10 cases had been described in world literature; however, due to recent advances in genetic analysis, five additional families studied in 2006 have been added to the short list of confirmed cases. Signs and Symptoms (Presentation) Symptoms include lack of sweat glands, thin hair, brittle nails, mottled skin, and lack of fingerprints. It is also characterized by a widespread, early-onset reticulate hype ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ( ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Keratin 14
Keratin 14 is a member of the type I keratin family of intermediate filament proteins. Keratin 14 was the first type I keratin sequence determined. Keratin 14 is also known as cytokeratin-14 (CK-14) or keratin-14 (KRT14). In humans it is encoded by the ''KRT14'' gene. Keratin 14 is usually found as a heterodimer with type II keratin 5 and form the cytoskeleton of epithelial cells. Pathology Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex and dermatopathia pigmentosa reticularis, both of which are autosomal dominant mutations. See also *34βE12 34βE12, often written as 34betaE12 and also known as CK34βE12 and keratin 903 (CK903), is an antibody specific for high molecular weight cytokeratins 1, 5, 10 and 14. It is sometimes, less precisely, referred to as high-molecular weight kerat ... (keratin 903) References Further reading * * * * * * * * * * * * * * * * * External links GeneReviews/NCBI/UW/NIH ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Coding Region
The coding region of a gene, also known as the coding sequence (CDS), is the portion of a gene's DNA or RNA that codes for protein. Studying the length, composition, regulation, splicing, structures, and functions of coding regions compared to non-coding regions over different species and time periods can provide a significant amount of important information regarding gene organization and evolution of prokaryotes and eukaryotes. This can further assist in mapping the human genome and developing gene therapy. Definition Although this term is also sometimes used interchangeably with exon, it is not the exact same thing: the exon is composed of the coding region as well as the 3' and 5' untranslated regions of the RNA, and so therefore, an exon would be partially made up of coding regions. The 3' and 5' untranslated regions of the RNA, which do not code for protein, are termed non-coding regions and are not discussed on this page. There is often confusion between coding region ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Targeted Analysis Sequencing
Targeted analysis sequencing (sometimes called target amplicon sequencing) (TAS) is a DNA sequencing#High-throughput methods, next-generation DNA sequencing technique focusing on amplicons and specific genes. It is useful in population genetics since it can target a large diversity of organisms. The TAS approach incorporates bioinformatics techniques to produce a large amount of data at a fraction of the cost involved in Sanger sequencing. TAS is also useful in DNA studies because it allows for amplification of the needed gene area via Polymerase chain reaction, PCR, which is followed by next-gen sequencing platforms. Next-gen sequencing use shorter reads 50–400 base pairs which allow for quicker sequencing of multiple specimens. Thus TAS allows for a cheaper sequencing approach for that is easily scalable and offers both reliability and speed. References DNA sequencing {{genetics-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Palmoplantar Keratoderma
Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the stratum corneum of the palms and soles. Autosomal recessive, dominant, X-linked, and acquired forms have all been described. Types Clinically, three distinct patterns of palmoplantar keratoderma may be identified: diffuse, focal, and punctate. Diffuse Diffuse palmoplantar keratoderma is a type of palmoplantar keratoderma that is characterized by an even, thick, symmetric hyperkeratosis over the whole of the palm and sole, usually evident at birth or in the first few months of life. Restated, diffuse palmoplantar keratoderma is an autosomal dominant disorder in which hyperkeratosis is confined to the palms and soles. The two major types can have a similar clinical appearance: *''Diffuse epidermolytic palmoplantar keratoderma'' (also known as "Palmoplantar keratoderma cum degeneratione granulosa Vörner," "Vörner's epidermolytic palmoplantar keratoderma", and "Vörn ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Melanin
Melanin (; from el, μέλας, melas, black, dark) is a broad term for a group of natural pigments found in most organisms. Eumelanin is produced through a multistage chemical process known as melanogenesis, where the oxidation of the amino acid tyrosine is followed by polymerization. The melanin pigments are produced in a specialized group of cells known as melanocytes. Functionally, eumelanin serves as protection against Ultraviolet, UV radiation. There are five basic types of melanin: eumelanin, pheomelanin, neuromelanin, allomelanin and pyomelanin. The most common type is eumelanin, of which there are two types— brown eumelanin and black eumelanin. Pheomelanin, which is produced when melanocytes are malfunctioning due to derivation of the gene to its recessive format is a cysteine-derivative that contains polybenzothiazine portions that are largely responsible for the of red yellow tint given to some skin or hair colors. Neuromelanin is found in the brain. Research ha ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Parakeratosis
Parakeratosis is a mode of keratinization characterized by the retention of nuclei in the stratum corneum. In mucous membranes, parakeratosis is normal.Kumar, Vinay; Fausto, Nelson; Abbas, Abul (2010) ''Robbins & Cotran Pathologic Basis of Disease'' (8th ed.). Saunders. Page 1170. . In the skin, this process leads to the abnormal replacement of annular squames with nucleated cells. Parakeratosis is associated with the thinning or loss of the granular layer and is usually seen in diseases of increased cell turnover, whether inflammatory or neoplastic. Parakeratosis is seen in the plaques of psoriasis and in dandruff. Granular parakeratosis (originally termed axillary granular parakeratosis) is an idiopathic, benign, nondisabling cutaneous disease that manifests with intertriginous erythematous, brown or red, scaly or keratotic papules and plaques. It presents in all age groups and has no established clinical associations. File:Histopathology of reactive hyperkeratosis.jpg, In c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Histopathology
Histopathology (compound of three Greek words: ''histos'' "tissue", πάθος ''pathos'' "suffering", and -λογία '' -logia'' "study of") refers to the microscopic examination of tissue in order to study the manifestations of disease. Specifically, in clinical medicine, histopathology refers to the examination of a biopsy or surgical specimen by a pathologist, after the specimen has been processed and histological sections have been placed onto glass slides. In contrast, cytopathology examines free cells or tissue micro-fragments (as "cell blocks"). Collection of tissues Histopathological examination of tissues starts with surgery, biopsy, or autopsy. The tissue is removed from the body or plant, and then, often following expert dissection in the fresh state, placed in a fixative which stabilizes the tissues to prevent decay. The most common fixative is 10% neutral buffered formalin (corresponding to 3.7% w/v formaldehyde in neutral buffered water, such as phosphate buf ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Biopsy
A biopsy is a medical test commonly performed by a surgeon, interventional radiologist, or an interventional cardiologist. The process involves extraction of sample cells or tissues for examination to determine the presence or extent of a disease. The tissue is then fixed, dehydrated, embedded, sectioned, stained and mounted before it is generally examined under a microscope by a pathologist; it may also be analyzed chemically. When an entire lump or suspicious area is removed, the procedure is called an excisional biopsy. An incisional biopsy or core biopsy samples a portion of the abnormal tissue without attempting to remove the entire lesion or tumor. When a sample of tissue or fluid is removed with a needle in such a way that cells are removed without preserving the histological architecture of the tissue cells, the procedure is called a needle aspiration biopsy. Biopsies are most commonly performed for insight into possible cancerous or inflammatory conditions. History T ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dermatoglyphics
Dermatoglyphics (from Ancient Greek ''derma'', "skin", and ''glyph'', "carving") is the scientific study of fingerprints, lines, mounts and shapes of hands, as distinct from the superficially similar pseudoscience of palmistry. Dermatoglyphics also refers to the making of naturally occurring ridges on certain body parts, namely palms, fingers, soles, and toes. These are areas where hair usually does not grow, and these ridges allow for increased leverage when picking up objects or walking barefoot. In a 2009 report, the scientific basis underlying dermatoglyphics was questioned by the National Academy of Sciences, for the discipline's reliance on subjective comparisons instead of conclusions drawn from the scientific method. History 1823 marks the beginning of the scientific study of papillary ridges of the hands and feet, with the work of Jan Evangelista Purkyně. By 1858, Sir William Herschel, 2nd Baronet, while in India, became the first European to realize the value of fin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
LOD Score
Genetic linkage is the tendency of DNA sequences that are close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction. Two genetic markers that are physically near to each other are unlikely to be separated onto different chromatids during chromosomal crossover, and are therefore said to be more ''linked'' than markers that are far apart. In other words, the nearer two genes are on a chromosome, the lower the chance of recombination between them, and the more likely they are to be inherited together. Markers on different chromosomes are perfectly ''unlinked'', although the penetrance of potentially deleterious alleles may be influenced by the presence of other alleles, and these other alleles may be located on other chromosomes than that on which a particular potentially deleterious allele is located. Genetic linkage is the most prominent exception to Gregor Mendel's Law of Independent Assortment. The first experiment to demonstrate lin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominance
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete do ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
