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CRLF1
Cytokine receptor-like factor 1 is a protein that in humans is encoded by the ''CRLF1'' gene. Function This gene encodes a member of the cytokine type I receptor family. The protein forms a secreted complex with cardiotrophin-like cytokine factor 1 and acts on cells expressing ciliary neurotrophic factor receptors. The complex can promote survival of neuronal cells. Clinical significance Mutations in this gene are associated with two conditions, both rare: *Cold-induced sweating syndrome, characterized by profuse hyperhidrosis in cold environmental temperature and characteristic craniofacial and skeletal features) *Crisponi syndrome (CS), characterized by neonatal-onset paroxysmal muscular contractions, abnormal function of the autonomic nervous system and craniofacial and skeletal manifestations such as thick and arched eyebrows, a short nose with anteverted nostrils, full cheeks, an inverted upper lip and a small mouth. It is unknown whether the two conditions are distinc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid residue ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Type I Cytokine Receptor
Type I cytokine receptors are transmembrane receptors expressed on the surface of cells that recognize and respond to cytokines with four α-helical strands. These receptors are also known under the name '' hemopoietin receptors'', and share a common amino acid motif ( WSXWS) in the extracellular portion adjacent to the cell membrane. Members of the type I cytokine receptor family comprise different chains, some of which are involved in ligand/cytokine interaction and others that are involved in signal transduction. The common cytokine-binding domain is related to the Fibronectin type III domain. Signal transduction chains The signal transducing chains are often shared between different receptors within this receptor family. * The IL-2 receptor common gamma chain (also known as CD132) is shared between: ** IL-2 receptor ** IL-4 receptor ** IL-7 receptor ** IL-9 receptor ** IL-13 receptor ** IL-15 receptor ** IL-21 receptor * The common beta chain ( CD131 or CDw131 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cardiotrophin 1
Cardiotrophin-1 (CT-1) is a cytokine. It is a cardiac hypertrophic factor of 21.5 kDa and a protein member of the IL-6 cytokine family. Pathology CT-1 is associated with the pathophysiology of heart diseases, including hypertension, myocardial infarction, valvular heart disease, and congestive heart failure. Mode of action The protein exerts its cellular effects by interacting with the glycoprotein 130 (gp130)/leukemia inhibitory factor receptor beta (LIFR) heterodimer. In addition, CT-1 activates phosphatidylinositol 3-kinase (PI-3 kinase) in cardiac myocytes and enhances transcription factor NF-κB Nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB) is a protein complex that controls transcription of DNA, cytokine production and cell survival. NF-κB is found in almost all animal cell types and is involved in cellular ... DNA -binding activities. CT-1 is highly expressed in the heart, skeletal muscle, prostate and ovary and to lower levels in l ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rare Disease
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discovering treatments for it, except by the government granting economically advantageous conditions to creating and selling such treatments. Orphan drugs are ones so created or sold. Most rare diseases are genetic and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. With only four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the rarest known genetic disease. No single cut-off number has been agreed upon for which a disease is considered rare. A disease may be considered rare in one part of the world, or in a particular gro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hyperhidrosis
Hyperhidrosis is a condition characterized by abnormally increased sweating, in excess of that required for regulation of body temperature. Although primarily a benign physical burden, hyperhidrosis can deteriorate quality of life from a psychological, emotional, and social perspective. In fact, hyperhidrosis almost always leads to psychological as well as physical and social consequences. It is thus responsible for more than ¼ of the cases of social phobia. Patients suffering from it present difficulties in the professional field, more than 80% of patients experience a moderate to severe emotional impact from the disease and half are subject to depression. This excess of sweat happens even if the person is not engaging in tasks that require muscular effort, and it does not depend on the exposure to heat. Common places to sweat can include underarms, face, neck, back, groin, feet, and hands. It has been called by some researchers 'the silent handicap'. Both ''diaphoresis'' and '' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autonomic Nervous System
The autonomic nervous system (ANS), formerly referred to as the vegetative nervous system, is a division of the peripheral nervous system that supplies viscera, internal organs, smooth muscle and glands. The autonomic nervous system is a control system that acts largely unconsciously and regulates bodily functions, such as the heart rate, its force of contraction, digestion, respiratory rate, pupillary dilation, pupillary response, Micturition, urination, and sexual arousal. This system is the primary mechanism in control of the fight-or-flight response. The autonomic nervous system is regulated by integrated reflexes through the brainstem to the spinal cord and organ (anatomy), organs. Autonomic functions include control of respiration, heart rate, cardiac regulation (the cardiac control center), vasomotor activity (the vasomotor center), and certain reflex, reflex actions such as coughing, sneezing, swallowing and vomiting. Those are then subdivided into other areas and are also ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Marfanoid Habitus
Marfanoid (or Marfanoid habitus) is a constellation of Symptom, symptoms resembling those of Marfan syndrome, including long limbs, with an arm span that is at least 1.03 of the height of the individual, and a crowded oral maxilla, sometimes with a high arch in the palate, arachnodactyly, and hyperlaxity. __TOC__ Signs and symptoms Arachnodactyly (long fingers), Dolichostenomelia, long limbs, scoliosis (curved spine), a hidden feature of bony lip growth towards vestibular aqueduct (which can be seen in CT scan reports), and imprecise articulation of speech due to high-arched palate are all considered Marfanoid symptoms. Language and cognition can be affected in neonatal Marfan syndrome where intellectual disability exists. Hearing may be impaired, either by conductive loss due to hypermobility of ossicles, by inflamed tympanic membrane, or sensorineurally through the vestibular aqueduct. In cases with hearing impairment, giddiness and imbalance may co-occur. Other symptoms include cr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dolichocephaly
Dolichocephaly (derived from the Ancient Greek δολιχός 'long' and κεφαλή 'head') is a condition where the head is longer than would be expected, relative to its width. In humans, scaphocephaly is a form of dolichocephaly. Dolichocephalic dogs (such as German Shepherds) have elongated noses. This makes them vulnerable to fungal diseases of the nose such as aspergillosis. In humans the anterior–posterior diameter (length) of dolichocephaly head is more than the transverse diameter (width). It can be present in cases of Sensenbrenner syndrome, Crouzon syndrome, Sotos syndrome, CMFTD as well as Marfan syndrome. See also * Brachycephaly * Cephalic index * Plagiocephaly Plagiocephaly, also known as flat head syndrome, is a condition characterized by an asymmetrical distortion (flattening of one side) of the skull. A mild and widespread form is characterized by a flat spot on the back or one side of the head cause ... References External links Congenital di ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Malar Hypoplasia
Malar may refer to: Places Tamil Nadu, India * Malarajamkuppam, Kandamangalam block, Viluppuram Taluk, Viluppuram District * Malarasankuppam, Gingee Taluk, Viluppuram District * Thirumalarajapuram, Poonamallee Taluk, Thiruvallur District * Thirumalaraya Samudram, Pudukkottai Taluk, Pudukkottai Elsewhere * Malar, Iran, a city in Iran * Malar, Mazandaran, a village in Iran * Malar, Pakistan, a town in Pakistan * Malar, Bap, a desert panchayat village in Bap tehsil, Jodhpur District, Rajasthan, India * Malar, Bhopalgarh, a panchayat village in Bhopalgarh tehsil, Jodhpur District, Rajasthan, India * Mälaren, also known as Lake Malar, the third largest lake in Sweden * St Mathias, Goa, also called Malar; a village in Goa, India People * Augustín Malár (1894–1945), a Slovak general during the Second World War * Joanne Malar, Canadian swimmer * Malar, a character in the 2015 film ''Premam'', portrayed by Sai Pallavi Other * Relating to the cheek (from Latin) ** Mala ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
