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Pierre-Robin Syndrome
Pierre Robin sequence (; abbreviated PRS) is a congenital defect observed in humans which is characterized by facial abnormalities. The three main features are micrognathia (abnormally small mandible), which causes glossoptosis (downwardly displaced or retracted tongue), which in turn causes breathing problems due to obstruction of the upper airway. A wide, U-shaped cleft palate is commonly also present. PRS is not merely a syndrome, but rather it is a sequence—a series of specific developmental malformations which can be attributed to a single cause. Signs and symptoms PRS is characterized by an unusually small mandible, posterior displacement or retraction of the tongue, and upper airway obstruction. Cleft palate (incomplete closure of the roof of the mouth) is present in the majority of patients. Hearing loss and speech difficulty are often associated with PRS. Causes Mechanical basis The physical craniofacial deformities of PRS may be the result of a mechanical problem in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pierre Robin Syndrome 3
Pierre is a masculine given name. It is a French form of the name Peter. Pierre originally meant "rock" or "stone" in French (derived from the Greek word πέτρος (''petros'') meaning "stone, rock", via Latin "petra"). It is a translation of Aramaic כיפא (''Kefa),'' the nickname Jesus gave to apostle Simon Bar-Jona, referred in English as Saint Peter. Pierre is also found as a surname. People with the given name * Monsieur Pierre, Pierre Jean Philippe Zurcher-Margolle (c. 1890–1963), French ballroom dancer and dance teacher * Pierre (footballer), Lucas Pierre Santos Oliveira (born 1982), Brazilian footballer * Pierre, Baron of Beauvau (c. 1380–1453) * Pierre, Duke of Penthièvre (1845–1919) * Pierre, marquis de Fayet (died 1737), French naval commander and Governor General of Saint-Domingue * Prince Pierre, Duke of Valentinois (1895–1964), father of Rainier III of Monaco * Pierre Affre (1590–1669), French sculptor * Pierre Agostini, French physicist * Pier ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SOX9
Transcription factor SOX-9 is a protein that in humans is encoded by the ''SOX9'' gene. Function SOX-9 recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding domain, DNA-binding proteins. It is expressed by proliferating but not hypertrophic chondrocytes that is essential for differentiation of precursor cells into chondrocytes and, with steroidogenic factor 1, regulates transcription of the anti-Müllerian hormone (Anti-Müllerian hormone, AMH) gene. SOX-9 also plays a pivotal role in male sexual development; by working with Sf1, SOX-9 can produce AMH in Sertoli cells to inhibit the creation of a female reproductive system. It also interacts with a few other genes to promote the development of male sexual organs. The process starts when the transcription factor testis determining factor (encoded by the sex-determining region SRY of the Y chromosome) activates SOX-9 activity by binding to an enhancer (genetics), enhancer sequence Upstream and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PVRL1
Poliovirus receptor-related 1 (PVRL1), also known as nectin-1 and CD111 (formerly herpesvirus entry mediator C, HVEC) is a human protein of the immunoglobulin superfamily (IgSF), also considered a member of the nectins. It is a membrane protein with three extracellular immunoglobulin domains, a single transmembrane helix and a cytoplasmic tail. The protein can mediate Ca2+-independent cellular adhesion further characterizing it as IgSF cell adhesion molecule (IgSF CAM). Function PVRL1 is an adhesion molecule found in a wide range of tissues where it localizes in various junctions such as the adherens junction of epithelial tissue or the chemical synapse of neurons. The cytoplasmic tail of PVRL1 can bind the protein afadin which is a scaffolding protein that binds actin. In the chemical synapse PVRL1 interacts with PVRL3 (nectin-3) and both proteins can be found in neuronal tissue already in early stages of brain development as well as in aging brains. The two proteins hav ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GAD1
Glutamate decarboxylase 1 (brain, 67kDa) (GAD67), also known as GAD1, is a human gene. This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantigen and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Deficiency in this enzyme has been shown to lead to pyridoxine dependency with seizures. Alternative splicing Alternative splicing, alternative RNA splicing, or differential splicing, is an alternative RNA splicing, splicing process during gene expression that allows a single gene to produce different splice variants. For example, some exons of a gene ma ... of this gene results in two products, the pre ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mutation
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. Mutati ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hereditary
Heredity, also called inheritance or biological inheritance, is the passing on of traits from parents to their offspring; either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents. Through heredity, variations between individuals can accumulate and cause species to evolve by natural selection. The study of heredity in biology is genetics. Overview In humans, eye color is an example of an inherited characteristic: an individual might inherit the "brown-eye trait" from one of the parents. Inherited traits are controlled by genes and the complete set of genes within an organism's genome is called its genotype. The complete set of observable traits of the structure and behavior of an organism is called its phenotype. These traits arise from the interaction of the organism's genotype with the environment. As a result, many aspects of an organism's phenotype are not inherited. For example, su ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be inherited from two parents who are carriers of a faulty gene ( autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hard Palate
The hard palate is a thin horizontal bony plate made up of two bones of the facial skeleton, located in the roof of the mouth. The bones are the palatine process of the maxilla and the horizontal plate of palatine bone. The hard palate spans the alveolar arch formed by the alveolar process that holds the upper teeth (when these are developed). Structure The hard palate is formed by the palatine process of the maxilla and horizontal plate of palatine bone. It forms a partition between the nasal passages and the mouth. On the anterior portion of the hard palate are the ''plicae'', irregular ridges in the mucous membrane that help hold food while the teeth are biting into it while also facilitating the movement of food backward towards the larynx once pieces have been bitten off. This partition is continued deeper into the mouth by a fleshy extension called the soft palate. On the ventral surface of the hard palate, some projections or transverse ridges are present which ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Palatine Process Of Maxilla
In human anatomy of the mouth, the palatine process of maxilla (palatal process), is a thick, horizontal process of the maxilla. It forms the anterior three quarters of the hard palate, the horizontal plate of the palatine bone making up the rest. It is the most important bone in the midface. It provides structural support for the viscerocranium.Dalgorf D, Higgins K. Reconstruction of the midface and maxilla. Curr Opin Otolaryngol Head Neck Surg. 2008 Aug;16(4):303-11 Structure It is perforated by numerous foramina for the passage of the nutrient vessels; is channelled at the back part of its lateral border by a groove, sometimes a canal, for the transmission of the descending palatine vessels and the anterior palatine nerve from the spheno-palatine ganglion; and presents little depressions for the lodgement of the palatine glands. When the two maxillae are articulated, a funnel-shaped opening, the incisive foramen, is seen in the middle line, immediately behind the incisor ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypoplasia
Hypoplasia (; adjective form ''hypoplastic'') is underdevelopment or incomplete development of a tissue or organ. Dictionary of Cell and Molecular Biology (11 March 2008) Although the term is not always used precisely, it properly refers to an inadequate or below-normal number of cells.Hypoplasia Stedman's Medical Dictionary. lww.com Hypoplasia is similar to aplasia, but less severe. It is technically ''not'' the opposite of [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sternoclavicular Joint
The sternoclavicular joint or sternoclavicular articulation is a Synovial joint, synovial Saddle joint, saddle joint between the sternum#Manubrium, manubrium of the sternum, and the clavicle bone, clavicle, and the first costal cartilage. The joint possesses a joint capsule, and an articular disk, articular disc, and is reinforced by multiple ligaments. Structure The joint is structurally classified as a Synovial joint, synovial saddle joint and functionally classed as a diarthrosis and multiaxial joint. It is composed of two portions separated by an articular disc of fibrocartilage. The joint is formed by the sternal end of the clavicle, the clavicular notch of the sternum, and (the superior surface of) the costal cartilage of the first rib. The articular surface of the clavicle is larger than that of the sternum, and is invested with a layer of cartilage, which is considerably thicker than that of the sternum. The joint receives arterial supply via branches of the internal tho ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
