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KDM6B
Lysine demethylase 6B is a protein that in humans is encoded by the KDM6B gene. Regulation during differentiation KDM6B was found to be expressional increased during cardiac and endothelial differentiation of murine embryonic stem cells. Small molecule inhibition A small molecule inhibitor (GSK-J1) has been developed to inhibit the jumonji domain of KDM6 histone demethylase family to modulate proinflammatory response in macrophages. Diagnosis Standard laboratory exome sequencing can be used to identify the KDM6B gene variant. Prognosis A 2019 study on symptoms from KDM6B variations reported: * Delays in speech and motor development * Dysmorphic facial features including coarse features, a prominent forehead, broad mouth, large and prominent ears, a round face, prognathism, and epicanthal fold * Musculoskeletal features including some what widened and thickened hands and fingers, joint hypermobility, clinodactyly of the fifth fingers, and toe syndactyly * Neuromuscular ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Demethylase
Demethylases are enzymes that remove methyl (CH3) groups from nucleic acids, proteins (particularly histones), and other molecules. Demethylases are important epigenetic proteins, as they are responsible for transcriptional regulation of the genome by controlling the methylation of DNA and histones, and by extension, the chromatin state at specific gene loci. Histone lysine demethylation Histone methylation was initially considered an effectively irreversible process as the half-life of the histone methylation was approximately equal to the histone half-life. Histone lysine demethylase LSD1 (later classified as KDM1A) was first identified in 2004 as a nuclear amine oxidase homolog. Two main classes of histone lysine demethylases exist, defined by their mechanisms: flavin adenine dinucleotide (FAD)-dependent amine oxidases and α-ketoglutarate-dependent hydroxylases. Histone lysine demethylases possess a variety of domains that are responsible for histone recognition, DNA ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kabuki Syndrome
Kabuki syndrome (also previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki syndrome) is a congenital disorder of genetic origin. It affects multiple parts of the body, with varying symptoms and severity, although the most common is the characteristic facial appearance. It is quite rare, affecting roughly one in 32,000 births. It was first identified and described in 1981 by two Japanese groups, led by scientists Norio Niikawa and Yoshikazu Kuroki. It is named Kabuki syndrome because of the facial resemblance of affected individuals to stage makeup used in kabuki, a Japanese traditional theatrical form. Signs and symptoms Specific symptoms for Kabuki syndrome vary, with large differences between affected individuals. Most people with Kabuki syndrome have distinctive facial features that include arched eyebrows, long eyelashes, elongated eyelids with lower lids that turn out, prominent ears, a flat tip of the nose and a downward slant to the mouth. Overlapping p ... [...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] |
Proinflammatory
Inflammation (from la, inflammatio) is part of the complex biological response of body tissues to harmful stimuli, such as pathogens, damaged cells, or irritants, and is a protective response involving immune cells, blood vessels, and molecular mediators. The function of inflammation is to eliminate the initial cause of cell injury, clear out necrotic cells and tissues damaged from the original insult and the inflammatory process, and initiate tissue repair. The five cardinal signs are heat, pain, redness, swelling, and loss of function (Latin ''calor'', ''dolor'', ''rubor'', ''tumor'', and ''functio laesa''). Inflammation is a generic response, and therefore it is considered as a mechanism of innate immunity, as compared to adaptive immunity, which is specific for each pathogen. Too little inflammation could lead to progressive tissue destruction by the harmful stimulus (e.g. bacteria) and compromise the survival of the organism. In contrast, too much inflammation, in the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Macrophages
Macrophages (abbreviated as M φ, MΦ or MP) ( el, large eaters, from Greek ''μακρός'' (') = large, ''φαγεῖν'' (') = to eat) are a type of white blood cell of the immune system that engulfs and digests pathogens, such as cancer cells, microbes, cellular debris, and foreign substances, which do not have proteins that are specific to healthy body cells on their surface. The process is called phagocytosis, which acts to defend the host against infection and injury. These large phagocytes are found in essentially all tissues, where they patrol for potential pathogens by amoeboid movement. They take various forms (with various names) throughout the body (e.g., histiocytes, Kupffer cells, alveolar macrophages, microglia, and others), but all are part of the mononuclear phagocyte system. Besides phagocytosis, they play a critical role in nonspecific defense (innate immunity) and also help initiate specific defense mechanisms (adaptive immunity) by recruiting other immun ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Exome Sequencing
Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome (known as the exome). It consists of two steps: the first step is to select only the subset of DNA that encodes proteins. These regions are known as exons—humans have about 180,000 exons, constituting about 1% of the human genome, or approximately 30 million base pairs. The second step is to sequence the exonic DNA using any high-throughput DNA sequencing technology. The goal of this approach is to identify genetic variants that alter protein sequences, and to do this at a much lower cost than whole-genome sequencing. Since these variants can be responsible for both Mendelian and common polygenic diseases, such as Alzheimer's disease, whole exome sequencing has been applied both in academic research and as a clinical diagnostic. Motivation and comparison to other approaches Exome sequencing is especially effective in the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Prognathism
Prognathism, also called Habsburg jaw or Habsburgs' jaw primarily in the context of its prevalence amongst members of the House of Habsburg, is a positional relationship of the mandible or maxilla to the skeletal base where either of the jaws protrudes beyond a predetermined imaginary line in the coronal plane of the skull. In general dentistry, oral and maxillofacial surgery, and orthodontics, this is assessed clinically or radiographically ( cephalometrics). The word ''prognathism'' derives from Greek πρό (''pro'', meaning 'forward') and γνάθος (''gnáthos'', 'jaw'). One or more types of prognathism can result in the common condition of malocclusion, in which an individual's top teeth and lower teeth do not align properly. Presentation Prognathism in humans can occur due to normal variation among phenotypes. In human populations where prognathism is not the norm, it may be a malformation, the result of injury, a disease state or a hereditary condition. Prognathism ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epicanthal Fold
An epicanthic fold or epicanthus is a skin fold of the upper eyelid that covers the inner corner (medial canthus) of the eye. However, variation occurs in the nature of this feature and the possession of "partial epicanthic folds" or "slight epicanthic folds" is noted in the relevant literature.Lang, Berel (ed.) (2000) ''Race and Racism in Theory and Practice'', Rowman & Littlefield, p. 10 Various factors influence whether epicanthic folds form, including ancestry, age, and certain medical conditions. Etymology ''Epicanthus'' means 'above the canthus', with epi-canthus being the Latinized form of the Ancient Greek : 'corner of the eye'. Classification Variation in the shape of the epicanthic fold has led to four types being recognised: * ''Epicanthus supraciliaris'' runs from the brow, curving downwards towards the lachrymal sac. * ''Epicanthus palpebralis'' begins above the upper tarsus and extends to the inferior orbital rim. * ''Epicanthus tarsalis'' originates at ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Clinodactyly
Clinodactyly is a medical term describing the curvature of a digit (a finger or toe) in the plane of the palm, most commonly the fifth finger (the "little finger") towards the adjacent fourth finger (the "ring finger"). It is a fairly common isolated anomaly which often goes unnoticed, but also occurs in combination with other abnormalities in certain genetic syndromes. The term is from the Ancient Greek κλίνειν ' 'to bend' and δάκτυλος ' 'digit'. Genetics Clinodactyly is an autosomal dominant trait that has variable expressiveness and incomplete penetrance. Clinodactyly can be passed through inheritance and presents as either an isolated anomaly or a component manifestation of a genetic syndrome. Many syndromes are associated with clinodactyly, including those listed below. But the phenotype, by itself, is not a sensitive or specific diagnostic test for these syndromes (it is present in up to 18% of the normal population). * Down syndrome * Turner syndrome * Aa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndactyly
Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some mammals, such as the siamang and diprotodontia, but is an unusual condition in humans. The term is from Greek σύν, ''syn'' 'together' and δάκτυλος, ''daktulos'' 'finger'. Classification Syndactyly can be simple or complex. * In simple syndactyly, adjacent fingers or toes are joined by soft tissue. * In complex syndactyly, the bones of adjacent digits are fused. The kangaroo exhibits complex syndactyly. Syndactyly can be complete or incomplete. * In complete syndactyly, the skin is joined all the way to the tip of the involved digits. * In incomplete syndactyly, the skin is only joined part of the distance to the tip of the involved digits. Complex syndactyly occurs as part of a syndrome (such as Apert syndrome) and typically involves more digits than simple syndactyly. Fenestrated syndactyly, also known as acrosyndactyly or terminal syndactyly, means the skin is joine ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypotonia
Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. Hypotonia is a lack of resistance to passive movement, whereas muscle weakness results in impaired active movement. Central hypotonia originates from the central nervous system, while peripheral hypotonia is related to problems within the spinal cord, peripheral nerves and/or skeletal muscles. Severe hypotonia in infancy is commonly known as floppy baby syndrome. Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but diagnosing the underlying cause can be difficult and often unsuccessful. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the muscle weakness and the na ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
