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CARS1
Cysteinyl-tRNA synthetase 1 is an enzyme ( EC 6.1.1.16) that in humans is encoded by the ''CARS1'' gene. It is an aminoacyl tRNA synthetase that attaches the cysteine amino acid onto its corresponding transfer RNA (tRNA). Cysteinyl tRNA in turn is used by the ribosome to transfer cysteine onto a growing peptide chain during protein synthesis, according to the genetic code. Clinical significance Trichothiodystrophy Bi-allelic mutations in ''CARS1'' have been identified to cause the non-photosensitive form of trichothiodystrophy (TTD-NPS). This disorder is characterized by neurodevelopmental problems, sulfur-deficient brittle hair and nails, ichthyosis, and growth retardation. In contrast to the photosensitive version of TTD (PS-TTD), which has the characteristics of progressive neuropathy and accelerated aging, NPS-TTD is not linked with premature aging. According to one study, individuals who present with bi-allelic ''CARS'' loss-of-function mutations are unique in present ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Trichothiodystrophy
Trichothiodystrophy (TTD) is an autosomal recessive inherited disorder characterised by brittle hair and intellectual impairment. The word breaks down into ''tricho'' – "hair", '' thio'' – "sulphur", and ''dystrophy'' – "wasting away" or literally "bad nourishment". TTD is associated with a range of symptoms connected with organs of the ectoderm and neuroectoderm. TTD may be subclassified into four syndromes: Approximately half of all patients with trichothiodystrophy have photosensitivity, which divides the classification into syndromes with or without photosensitivity; BIDS and PBIDS, and IBIDS and PIBIDS. Modern covering usage is TTD-P (photosensitive), and TTD. Presentation Features of TTD can include photosensitivity, ichthyosis, brittle hair and nails, intellectual impairment, decreased fertility and short stature. A more subtle feature associated with this syndrome is a "tiger tail" banding pattern in hair shafts, seen in microscopy under polarized light. The acronyms ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Enzyme
An enzyme () is a protein that acts as a biological catalyst by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different molecules known as product (chemistry), products. Almost all metabolism, metabolic processes in the cell (biology), cell need enzyme catalysis in order to occur at rates fast enough to sustain life. Metabolic pathways depend upon enzymes to catalyze individual steps. The study of enzymes is called ''enzymology'' and the field of pseudoenzyme, pseudoenzyme analysis recognizes that during evolution, some enzymes have lost the ability to carry out biological catalysis, which is often reflected in their amino acid sequences and unusual 'pseudocatalytic' properties. Enzymes are known to catalyze more than 5,000 biochemical reaction types. Other biocatalysts include Ribozyme, catalytic RNA molecules, also called ribozymes. They are sometimes descr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ichthyosis
Ichthyosis is a family of genetic disorder, genetic skin disorders characterized by Xeroderma, dry, Scleroderma, 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., Dominance (genetics), dominant, recessive, autosomal or X-linked). Ichthyosis comes , 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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Keratins
Keratin () is one of a family of structural fibrous proteins also known as ''scleroproteins''. It is the key structural material making up scales, hair, nails, feathers, horns, claws, hooves, and the outer layer of skin in vertebrates. Keratin also protects epithelial cells from damage or stress. Keratin is extremely insoluble in water and organic solvents. Keratin monomers assemble into bundles to form intermediate filaments, which are tough and form strong unmineralized epidermal appendages found in reptiles, birds, amphibians, and mammals. Excessive keratinization participate in fortification of certain tissues such as in horns of cattle and rhinos, and armadillos' osteoderm. The only other biological matter known to approximate the toughness of keratinized tissue is chitin. Keratin comes in two types: the primitive, softer forms found in all vertebrates and the harder, derived forms found only among sauropsids (reptiles and birds). Spider silk is classified as ker ... [...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] |
Loss-of-function
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 substitution, 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 ult ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Molecular Genetics
''Human Molecular Genetics'' is a semimonthly peer-reviewed scientific journal published by Oxford University Press. It covers all topics related to human molecular genetics. In addition, two "special review" issues are published each year. The editor-in-chief is Charis Eng (Case Western Reserve University). The journal was established in 1992. Abstracting and indexing The journal is abstracted and indexed in: According to the ''Journal Citation Reports'', the journal has a 2020 impact factor The impact factor (IF) or journal impact factor (JIF) of an academic journal is a type of journal ranking. Journals with higher impact factor values are considered more prestigious or important within their field. The Impact Factor of a journa ... of 6.150. References External links * Oxford University Press academic journals Biweekly journals Academic journals established in 1992 English-language journals Genetics journals {{genetics-journal-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Accelerated Aging
Accelerated aging is testing that uses aggravated conditions of heat, humidity, oxygen, sunlight, vibration, etc. to speed up the normal aging processes of items. It is used to help determine the long-term effects of expected levels of stress within a shorter time, usually in a laboratory by controlled standard test methods. It is used to estimate the useful lifespan of a product or its shelf life when actual lifespan data is unavailable. This occurs with products that have not existed long enough to have gone through their useful lifespan: for example, a new type of car engine or a new polymer for replacement joints. Physical testing or chemical testing is carried out by subjecting the product to * representative levels of stress for long time periods, * unusually high levels of stress used to accelerate the effects of natural aging, or * levels of stress that intentionally force failures (for further analysis). Mechanical parts are run at very high speed, far in excess of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neuropathy
Peripheral neuropathy, often shortened to neuropathy, refers to damage or disease affecting the nerves. Damage to nerves may impair sensation, movement, gland function, and/or organ function depending on which nerve fibers are affected. Neuropathies affecting motor, sensory, or autonomic nerve fibers result in different symptoms. More than one type of fiber may be affected simultaneously. Peripheral neuropathy may be acute (with sudden onset, rapid progress) or chronic (symptoms begin subtly and progress slowly), and may be reversible or permanent. Common causes include systemic diseases (such as diabetes or leprosy), hyperglycemia-induced glycation, vitamin deficiency, medication (e.g., chemotherapy, or commonly prescribed antibiotics including metronidazole and the fluoroquinolone class of antibiotics (such as ciprofloxacin, levofloxacin, moxifloxacin)), traumatic injury, ischemia, radiation therapy, excessive alcohol consumption, immune system disease, celiac dis ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orphanet
Orphanet is an organisation and knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks. Orphanet was founded in France in 1997 by Inserm, the French National Institute of Health and Medical Research. The website is managed by a network of academic establishments from 40 countries, led by Inserm, and is a European Union Health Programme Joint Action. It contains content for both physicians and patients. Its administrative office is in Paris and its official medical journal is the '' Orphanet Journal of Rare Diseases'' published on its behalf by BioMed Central. , the site provides information on over 6,100 rare diseases and 5,400 genes. Available information Orphanet is an online database with the goal of gathering, providing and improving knowledge on rare diseases and to improve the diagnosis, care and treatment of patients with rare diseases. By listing rare diseases, and maintaining a standard nomenclatu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Growth Retardation
A delayed milestone, which is also known as a developmental delay, refers to a situation where a child does not reach a particular developmental milestone at the expected age. Developmental milestones refer to a collection of indicators that a child is anticipated to reach as they grow older. Each age group has its distinct set of milestones, representing behaviors that develop gradually and serve as foundational building blocks for growth and ongoing learning. These behavioral milestones fall into various categories of child development stages, including: * Adaptive skills: Activities of daily living, such as putting on clothes, eating, and washing independently. * Cognition and intellect: Involves thinking, solving problems, making judgements and comprehension. * Emotional expression: Includes facial movements, such as a smile when happy, or an action, such as giving a gift to express gratitude * Language: Being able to communicate verbally with speech and/or nonverbally with ges ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
American Journal Of Human Genetics
The ''American Journal of Human Genetics'' is a monthly peer-reviewed scientific journal in the field of human genetics. It was established in 1948 by the American Society of Human Genetics and covers all aspects of heredity in humans, including the application of genetics in medicine and public policy, as well as the related areas of molecular and cell biology. According to the ''Journal Citation Reports'', the journal has a 2019 impact factor of 10.502. The journal is published by Cell Press an imprint of Elsevier Elsevier ( ) is a Dutch academic publishing company specializing in scientific, technical, and medical content. Its products include journals such as ''The Lancet'', ''Cell (journal), Cell'', the ScienceDirect collection of electronic journals, .... Bruce R. Korf became the editor-in-chief in the winter of 2017–2018. Past editors-in-chief * 1948–1951 — Charles W. Cotterham * 1952–1954 — Herluf H. Strandskov (1898–1984) * 1955— Laurence H. Snyde ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
