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Macrodontia (tooth)
Macrodontia is a type of localized gigantism in which teeth are larger than normal. Macrodontia seen in permanent teeth is thought to affect around 0.03 to 1.9 percent of the worldwide population. Generally, patients with macrodontia have one or two teeth in their mouth that is abnormally large; however, single tooth growth is seen in a number of cases as well. The three types of macrodontia are true generalized macrodontia, relative generalized macrodontia, and macrodontia of a single tooth. True generalized macrodontia is very rare while Macrodontia of a single tooth is much more commonly seen. Macrodontia should not be confused with other oral conditions such as taurodontism (bull teeth), fusion (double tooth), or the jaws being relatively small, giving the appearance of macrodontia. Patients sometimes also exhibit other co-morbidities associated with macrodontia such as enlarged pituitary glands and abnormal growth on one side of the face. Signs & Symptoms As is customary wit ...
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Dentistry
Dentistry, also known as dental medicine and oral medicine, is the branch of medicine focused on the teeth, gums, and mouth. It consists of the study, diagnosis, prevention, management, and treatment of diseases, disorders, and conditions of the mouth, most commonly focused on dentition (the development and arrangement of teeth) as well as the oral mucosa. Dentistry may also encompass other aspects of the craniofacial complex including the temporomandibular joint. The practitioner is called a dentist. The history of dentistry is almost as ancient as the history of humanity and civilization with the earliest evidence dating from 7000 BC to 5500 BC. Dentistry is thought to have been the first specialization in medicine which have gone on to develop its own accredited degree with its own specializations. Dentistry is often also understood to subsume the now largely defunct medical specialty of stomatology (the study of the mouth and its disorders and diseases) for which reas ...
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Growth Hormone–releasing Hormone
Growth hormone–releasing hormone (GHRH), also known as somatocrinin or by #Nomenclature, several other names in its endogeny (biology), endogenous forms and as somatorelin (International Nonproprietary Name, INN) in its pharmaceutical, pharmaceutical form, is a releasing hormone of growth hormone (GH). It is a 44-amino acid peptide hormone produced in the arcuate nucleus of the hypothalamus. GHRH first appears in the human hypothalamus between 18 and 29 weeks of gestation, which corresponds to the start of production of growth hormone and other somatotropes in fetuses. Nomenclature * Endogenous: ** somatocrinin ** somatoliberin ** growth hormone–releasing hormone (GHRH or GH-RH; HUGO Gene Nomenclature Committee, HGNC symbol is GHRH) ** growth hormone–releasing factor (GHRF or GRF) ** somatotropin-releasing hormone (SRH) ** somatotropin-releasing factor (SRF) * Pharmaceutical: ** somatorelin (International Nonproprietary Name, INN) Origin GHRH is released from neurosecr ...
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Chromosome 16
Chromosome 16 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 16 spans about 90 million base pair A base pair (bp) is a fundamental unit of double-stranded nucleic acids consisting of two nucleobases bound to each other by hydrogen bonds. They form the building blocks of the DNA double helix and contribute to the folded structure of both DNA ...s (the building material of DNA) and represents just under 3% of the total DNA in cell (biology), cells. Genes Number of genes The following are some of the gene count estimates of human chromosome 16. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (Consensus CDS Project, CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lowe ...
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ANKRD1
Ankyrin repeat domain-containing protein 1, or Cardiac ankyrin repeat protein is a protein that in humans is encoded by the ''ANKRD1'' gene also known as ''CARP''. CARP is highly expressed in cardiac and skeletal muscle, and is a transcription factor involved in development and under conditions of stress. CARP has been implicated in several diseases, including dilated cardiomyopathy, hypertrophic cardiomyopathy, and several skeletal muscle myopathies. Structure Human cardiac ankyrin repeat protein is a 36.2kDa protein composed of 319 amino acids., though in cardiomyocytes, CARP can exist as multiple alternatively spliced forms. CARP contains five tandem ankyrin repeats. Studies have shown that CARP can homodimerize. Studies have also shown that CARP is N-terminally, post-translationally cleaved by calpain-3 in skeletal muscle, suggesting alternate bioactive forms of CARP exist. CARP has been localized to nuclei and Z-discs in animal and human muscle cells, and at intercalate ...
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Incisor
Incisors (from Latin ''incidere'', "to cut") are the front teeth present in most mammals. They are located in the premaxilla above and on the mandible below. Humans have a total of eight (two on each side, top and bottom). Opossums have 18, whereas armadillos have none. Structure Adult humans normally have eight incisors, two of each type. The types of incisor are: * maxillary central incisor (upper jaw, closest to the center of the lips) * maxillary lateral incisor (upper jaw, beside the maxillary central incisor) * mandibular central incisor (lower jaw, closest to the center of the lips) * mandibular lateral incisor (lower jaw, beside the mandibular central incisor) Children with a full set of deciduous teeth (primary teeth) also have eight incisors, named the same way as in permanent teeth. Young children may have from zero to eight incisors depending on the stage of their tooth eruption and tooth development. Typically, the mandibular central incisors erupt first, followed ...
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Dysmorphic Feature
A dysmorphic feature is an abnormal difference in body structure. It can be an isolated finding in an otherwise normal individual, or it can be related to a congenital disorder, Genetics, genetic syndrome or birth defect. Dysmorphology is the study of dysmorphic features, their origins and proper nomenclature. One of the key challenges in identifying and describing dysmorphic features is the use and understanding of specific terms between different individuals. Clinical geneticists and pediatricians are usually those most closely involved with the identification and description of dysmorphic features, as most are apparent during childhood. Dysmorphic features can vary from isolated, mild anomalies such as clinodactyly or synophrys to severe congenital anomalies, such as heart defects and holoprosencephaly. In some cases, dysmorphic features are part of a larger clinical picture, sometimes known as a sequence, syndrome or association. Recognizing the patterns of dysmorphic features ...
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Growth Hormone Receptor
Growth hormone receptor is a protein that in humans is encoded by the ''GHR'' gene. GHR orthologs have been identified in most mammals. Structure Growth hormone receptor (GHR) is a transmembrane protein consisting of 620 amino acids. The receptor is part of the Type I cytokine receptor family of receptors. GHR exists in two forms as a full length membrane-bound receptor and as a soluble GH binding protein (GHBP). GHR contains two fibronectin type III β domains in its extracellular domain, whereas the intracellular domain contains tyrosine Kinase JAK2 binding sites for SH2 proteins. JAK2 is the primary signal transducer for growth hormone. Function This gene encodes a protein that is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to reorientation of a pre-assembled receptor dimer dimerization (the receptor may however also exist as monomers on the cell surface ) and the activation of an intra- and intercellular signal transducti ...
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Tooth Enamel
Tooth enamel is one of the four major Tissue (biology), tissues that make up the tooth in humans and many other animals, including some species of fish. It makes up the normally visible part of the tooth, covering the Crown (tooth), crown. The other major tissues are dentin, cementum, and Pulp (tooth), dental pulp. It is a very hard, white to off-white, highly mineralised substance that acts as a barrier to protect the tooth but can become susceptible to degradation, especially by acids from food and drink. Calcium hardens the tooth enamel. In rare circumstances enamel fails to form, leaving the underlying dentin exposed on the surface. Features Enamel is the hardest substance in the human body and contains the highest percentage of minerals (at 96%),Ross ''et al.'', p. 485 with water and organic material composing the rest.Ten Cate's Oral Histology, Nancy, Elsevier, pp. 70–94 The primary mineral is hydroxyapatite, which is a crystalline calcium phosphate. Enamel is formed o ...
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Cementum
Cementum is a specialized calcified substance covering the root of a tooth. The cementum is the part of the periodontium that attaches the teeth to the alveolar bone by anchoring the periodontal ligament.Illustrated Dental Embryology, Histology, and Anatomy, Bath-Balogh and Fehrenbach, Elsevier, 2011, page 170. Structure The cells of cementum are the entrapped cementoblasts, the cementocytes. Each cementocyte lies in its lacuna, similar to the pattern noted in bone. These lacunae also have canaliculi or canals. Unlike those in bone, however, these canals in cementum do not contain nerves, nor do they radiate outward. Instead, the canals are oriented toward the periodontal ligament and contain cementocytic processes that exist to diffuse nutrients from the ligament because it is vascularized. After the apposition of cementum in layers, the cementoblasts that do not become entrapped in cementum line up along the cemental surface along the length of the outer covering of the perio ...
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Dentin
Dentin () (American English) or dentine ( or ) (British English) ( la, substantia eburnea) is a calcified tissue of the body and, along with enamel, cementum, and pulp, is one of the four major components of teeth. It is usually covered by enamel on the crown and cementum on the root and surrounds the entire pulp. By volume, 45% of dentin consists of the mineral hydroxyapatite, 33% is organic material, and 22% is water. Yellow in appearance, it greatly affects the color of a tooth due to the translucency of enamel. Dentin, which is less mineralized and less brittle than enamel, is necessary for the support of enamel. Dentin rates approximately 3 on the Mohs scale of mineral hardness. There are two main characteristics which distinguish dentin from enamel: firstly, dentin forms throughout life; secondly, dentin is sensitive and can become hypersensitive to changes in temperature due to the sensory function of odontoblasts, especially when enamel recedes and dentin channels becom ...
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Gs Alpha Subunit
The Gs alpha subunit (Gαs, Gsα) is a subunit of the heterotrimeric G protein Gs that stimulates the cAMP-dependent pathway by activating adenylyl cyclase. Gsα is a GTPase that functions as a cellular signaling protein. Gsα is the founding member of one of the four families of heterotrimeric G proteins, defined by the alpha subunits they contain: the Gαs family, Gαi/Gαo family, Gαq family, and Gα12/Gα13 family. The Gs-family has only two members: the other member is Golf, named for its predominant expression in the olfactory system. In humans, Gsα is encoded by the GNAS complex locus, while Golfα is encoded by the GNAL gene. Function The general function of Gs is to activate intracellular signaling pathways in response to activation of cell surface G protein-coupled receptors (GPCRs). GPCRs function as part of a three-component system of receptor-transducer-effector. The transducer in this system is a heterotrimeric G protein, composed of three subunits: a Gα ...
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Adenylyl Cyclase
Adenylate cyclase (EC 4.6.1.1, also commonly known as adenyl cyclase and adenylyl cyclase, abbreviated AC) is an enzyme with systematic name ATP diphosphate-lyase (cyclizing; 3′,5′-cyclic-AMP-forming). It catalyzes the following reaction: :ATP = 3′,5′-cyclic AMP + diphosphate It has key regulatory roles in essentially all cells. It is the most polyphyletic known enzyme: six distinct classes have been described, all catalyzing the same reaction but representing unrelated gene families with no known sequence or structural homology. The best known class of adenylyl cyclases is class III or AC-III (Roman numerals are used for classes). AC-III occurs widely in eukaryotes and has important roles in many human tissues. All classes of adenylyl cyclase catalyse the conversion of adenosine triphosphate (ATP) to 3',5'-cyclic AMP (cAMP) and pyrophosphate.Magnesium ions are generally required and appear to be closely involved in the enzymatic mechanism. The cAMP produced by AC ...
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