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X-linked Recessive Ichthyosis
X-linked ichthyosis (abbreviated ''XLI'') is a skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 males. XLI manifests with dry, scaly skin and is due to deletions or mutations in the ''STS'' gene. XLI can also occur in the context of larger deletions causing contiguous gene syndromes. Treatment is largely aimed at alleviating the skin symptoms.: Treatment Section The term is from the Ancient Greek 'ichthys' meaning 'fish'. Signs and symptoms The major symptoms of XLI include scaling of the skin, particularly on the neck, trunk, and lower extremities. The extensor surfaces are typically the most severely affected areas. The >4 mm diameter scales adhere to the underlying skin and can be dark brown or gray in color. Symptoms may subside during the summer. Associated medical conditions Aside from the skin scaling, XLI is not typically associated with other major medical problems. Atrial fibri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Skin
Skin is the layer of usually soft, flexible outer tissue covering the body of a vertebrate animal, with three main functions: protection, regulation, and sensation. Other cuticle, animal coverings, such as the arthropod exoskeleton, have different cellular differentiation, developmental origin, structure and chemical composition. The adjective cutaneous means "of the skin" (from Latin ''cutis'' 'skin'). In mammals, the skin is an organ (anatomy), organ of the integumentary system made up of multiple layers of ectodermal tissue (biology), tissue and guards the underlying muscles, bones, ligaments, and internal organs. Skin of a different nature exists in amphibians, reptiles, and birds. Skin (including cutaneous and subcutaneous tissues) plays crucial roles in formation, structure, and function of extraskeletal apparatus such as horns of bovids (e.g., cattle) and rhinos, cervids' antlers, giraffids' ossicones, armadillos' osteoderm, and os penis/os clitoris. All mammals have som ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-inactivation
X-inactivation (also called Lyonization, after English geneticist Mary Lyon) is a process by which one of the copies of the X chromosome is inactivated in therian female mammals. The inactive X chromosome is silenced by being packaged into a transcriptionally inactive structure called heterochromatin. As nearly all female mammals have two X chromosomes, X-inactivation prevents them from having twice as many X chromosome gene products as males, who only possess a single copy of the X chromosome (see dosage compensation). The choice of which X chromosome will be inactivated in a particular embryonic cell is random in placental mammals such as humans, but once an X chromosome is inactivated it will remain inactive throughout the lifetime of the cell and its descendants in the organism (its cell line). The result is that the choice of inactivated X chromosome in all the cells of the organism is a random distribution, often with about half the cells having the paternal X chromos ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ichthyosis
Ichthyosis is a family of genetic skin disorders characterized by dry, thickened, scaly skin. The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominant, recessive, autosomal or X-linked). Ichthyosis comes from the Greek ἰχθύς ''ichthys'', literally "fish", since dry, scaly skin is the defining feature of all forms of ichthyosis. The severity of symptoms can vary enormously, from the mildest, most common, types such as ichthyosis vulgaris, which may be mistaken for normal dry skin, up to life-threatening conditions such as harlequin-type ichthyosis. Ichthyosis vulgaris accounts for more than 95% of cases. Types Many types of ichthyoses exist, and an exact diagnosis may be difficult. Types of ichthyoses are classified by their appearance, if they are syndromic or not, and by mode of inheritance. For example, non-syndromic ichthyoses that are inherited recessively come under the um ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Prenatal Diagnosis
Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible. These may be anatomic and physiologic problems with the health of the zygote, embryo, or fetus, either before gestation even starts (as in preimplantation genetic diagnosis) or as early in gestation as practicable. Screening can detect problems such as neural tube defects, chromosome abnormalities, and gene mutations that would lead to genetic disorders and birth defects, such as spina bifida, cleft palate, Down syndrome, Tay–Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, muscular dystrophy, and fragile X syndrome. Some tests are designed to discover problems which primarily affect the health of the mother, such as PAPP-A to detect pre-eclampsia or glucose tolerance tests to diagnose gestational diabetes. Screening can also detect anatomical defects such as hydrocephalus, anencephal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dermatologist
Dermatology is the branch of medicine dealing with the skin.''Random House Webster's Unabridged Dictionary.'' Random House, Inc. 2001. Page 537. . It is a speciality with both medical and surgical aspects. A dermatologist is a specialist medical doctor who manages diseases related to skin, hair, nails, and some cosmetic problems. Etymology Attested in English in 1819, the word "dermatology" derives from the Greek δέρματος (''dermatos''), genitive of δέρμα (''derma''), "skin" (itself from δέρω ''dero'', "to flay") and -λογία '' -logia''. Neo-Latin ''dermatologia'' was coined in 1630, an anatomical term with various French and German uses attested from the 1730s. History In 1708, the first great school of dermatology became a reality at the famous Hôpital Saint-Louis in Paris, and the first textbooks (Willan's, 1798–1808) and atlases ( Alibert's, 1806–1816) appeared in print around the same time.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cholesterol Sulfate
Cholesterol sulfate, or cholest-5-en-3β-ol sulfate, is an endogenous steroid and the C3β sulfate ester of cholesterol. It is formed from cholesterol by steroid sulfotransferases (SSTs) such as SULT2B1b (also known as cholesterol sulfotransferase) and is converted back into cholesterol by steroid sulfatase (STS). Accumulation of cholesterol sulfate in the skin is implicated in the pathophysiology of X-linked ichthyosis, a congenital disorder A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can ... in which STS is non-functional and the body cannot convert cholesterol sulfate back into cholesterol. See also * Steroid sulfate References Cholestanes Steroid esters Sulfate esters {{steroid-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Estrogen
Estrogen or oestrogen is a category of sex hormone responsible for the development and regulation of the female reproductive system and secondary sex characteristics. There are three major endogenous estrogens that have estrogenic hormonal activity: estrone (E1), estradiol (E2), and estriol (E3). Estradiol, an estrane, is the most potent and prevalent. Another estrogen called estetrol (E4) is produced only during pregnancy. Estrogens are synthesized in all vertebrates and some insects. Their presence in both vertebrates and insects suggests that estrogenic sex hormones have an ancient evolutionary history. Quantitatively, estrogens circulate at lower levels than androgens in both men and women. While estrogen levels are significantly lower in males than in females, estrogens nevertheless have important physiological roles in males. Like all steroid hormones, estrogens readily diffuse across the cell membrane. Once inside the cell, they bind to and activate estrogen receptors (E ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dehydroepiandrosterone Sulfate
Dehydroepiandrosterone sulfate, abbreviated as DHEA sulfate or DHEA-S, also known as androstenolone sulfate, is an endogenous androstane steroid that is produced by the adrenal cortex. It is the 3β-sulfate ester and a metabolite of dehydroepiandrosterone (DHEA) and circulates in far greater relative concentrations than DHEA. The steroid is hormonally inert and is instead an important neurosteroid and neurotrophin. Biological activity Neurosteroid activity Similarly to other conjugated steroids, DHEA-S is devoid of hormonal activity, lacking affinity for the steroid hormone receptors. However, DHEA-S retains activity as a neurosteroid and neurotrophin. It has been found to act as a positive allosteric modulator of the NMDA receptor (50 nM–1 μM), negative allosteric modulator of the GABAA and glycine receptors, and weak agonist of the sigma-1 receptor (Kd > 50 μM). In addition, DHEA-S has been found to directly bind to and activate the TrkA and p75NT ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Estrone Sulfate
Estrone sulfate, also known as E1S, E1SO4 and estrone 3-sulfate, is a natural, endogenous steroid and an estrogen ester and conjugate. In addition to its role as a natural hormone, estrone sulfate is used as a medication, for instance in menopausal hormone therapy; for information on estrone sulfate as a medication, see the estrone sulfate (medication) article. Biological function E1S itself is biologically inactive, with less than 1% of the relative binding affinity of estradiol for the ERα and ERβ. However, it can be transformed by steroid sulfatase, also known as estrogen sulfatase, into estrone, an estrogen. Simultaneously, estrogen sulfotransferases, including SULT1A1 and SULT1E1, convert estrone to E1S, resulting in an equilibrium between the two steroids in various tissues. Estrone can also be converted by 17β-hydroxysteroid dehydrogenases into the more potent estrogen estradiol. E1S levels are much higher than those of estrone and estradiol, and it is thought ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Steroid Sulfatase
Steroid sulfatase (STS), or steryl-sulfatase (EC 3.1.6.2), formerly known as arylsulfatase C, is a sulfatase enzyme involved in the metabolism of steroids. It is encoded by the ''STS'' gene. Reactions This enzyme catalysis, catalyses the following chemical reaction : 3β-hydroxyandrost-5-en-17-one 3-sulfate + H2O \rightleftharpoons 3β-hydroxyandrost-5-en-17-one + sulfate Also acts on some related steryl sulfates. Function The protein encoded by this gene catalyzes the conversion of sulfated steroid precursors to the free steroid. This includes DHEA sulfate, estrone sulfate, pregnenolone sulfate, and cholesterol sulfate, all to their unconjugated forms (DHEA, estrone, pregnenolone, and cholesterol, respectively). The encoded protein is found in the endoplasmic reticulum, where it is present as a homodimer. Clinical significance A congenital deficiency in the enzyme is associated with X-linked ichthyosis, a scaly-skin disease affecting roughly 1 in every 2,000 to 6,000 mal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DHEA Sulfate
Dehydroepiandrosterone sulfate, abbreviated as DHEA sulfate or DHEA-S, also known as androstenolone sulfate, is an endogenous androstane steroid that is produced by the adrenal cortex. It is the 3β-sulfate ester and a metabolite of dehydroepiandrosterone (DHEA) and circulates in far greater relative concentrations than DHEA. The steroid is hormonally inert and is instead an important neurosteroid and neurotrophin. Biological activity Neurosteroid activity Similarly to other conjugated steroids, DHEA-S is devoid of hormonal activity, lacking affinity for the steroid hormone receptors. However, DHEA-S retains activity as a neurosteroid and neurotrophin. It has been found to act as a positive allosteric modulator of the NMDA receptor (50 nM–1 μM), negative allosteric modulator of the GABAA and glycine receptors, and weak agonist of the sigma-1 receptor (Kd > 50 μM). In addition, DHEA-S has been found to directly bind to and activate the TrkA and p75NTR ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gametogenesis
Gametogenesis is a biological process by which diploid or haploid precursor cells undergo cell division and differentiation to form mature haploid gametes. Depending on the biological life cycle of the organism, gametogenesis occurs by meiotic division of diploid gametocytes into various gametes, or by mitosis. For example, plants produce gametes through mitosis in gametophytes. The gametophytes grow from haploid spores after sporic meiosis. The existence of a multicellular, haploid phase in the life cycle between meiosis and gametogenesis is also referred to as alternation of generations. It is the biological process of gametogenesis; cells that are haploid or diploid divide to create other cells. matured haploid gametes. It can take place either through mitosis or meiotic division of diploid gametocytes into different depending on an organism's biological life cycle, gametes. For instance, gametophytes in plants undergo mitosis to produce gametes. Both male and female have diff ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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