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Norio Niikawa
is a Japanese physician and medical geneticist who discovered an autosomal dominant disorder, Kabuki syndrome, also known as Niikawa-Kuroki syndrome. Contribution Niikawa made an important contribution in the field of medical genetics. In 1981, he discovered a novel syndrome, Kabuki syndrome, and later he and his colleagues also identified a gene for the syndrome. In 2006, his research group identified a Single Nucleotide Polymorphism, single nucleotide polymorphism (SNP) in the ABCC11 gene is the determinant of human earwax type. Biography Niikawa obtained his medical degree in 1967 from Hokkaido University, Hokkaido University School of Medicine. After residency in Pediatrics at Hokkaido University Hospital, he worked as a pediatrician in Japan for several years. From 1972 to 1975, Niikawa served as a research associate in the embryology and cytogenetics laboratory at the Department of Gynaecology and Obstetrics in the Cantonal Hospital, Geneva University. From 1984 to 2007 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pediatrics
Pediatrics ( also spelled ''paediatrics'' or ''pædiatrics'') is the branch of medicine that involves the medical care of infants, children, adolescents, and young adults. In the United Kingdom, paediatrics covers many of their youth until the age of 18. The American Academy of Pediatrics recommends people seek pediatric care through the age of 21, but some pediatric subspecialists continue to care for adults up to 25. Worldwide age limits of pediatrics have been trending upward year after year. A medical doctor who specializes in this area is known as a pediatrician, or paediatrician. The word ''pediatrics'' and its cognates mean "healer of children," derived from the two Greek words: (''pais'' "child") and (''iatros'' "doctor, healer"). Pediatricians work in clinics, research centers, universities, general hospitals and children's hospitals, including those who practice pediatric subspecialties (e.g. neonatology requires resources available in a NICU). History The ear ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch tics 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 specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Japanese Geneticists
Japanese may refer to: * Something from or related to Japan, an island country in East Asia * Japanese language, spoken mainly in Japan * Japanese people, the ethnic group that identifies with Japan through ancestry or culture ** Japanese diaspora, Japanese emigrants and their descendants around the world * Japanese citizens, nationals of Japan under Japanese nationality law ** Foreign-born Japanese, naturalized citizens of Japan * Japanese writing system, consisting of kanji and kana * Japanese cuisine, the food and food culture of Japan See also * List of Japanese people * * Japonica (other) * Japonicum * Japonicus * Japanese studies {{disambiguation Language and nationality disambiguation pages ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Japanese Pediatricians
Japanese may refer to: * Something from or related to Japan, an island country in East Asia * Japanese language, spoken mainly in Japan * Japanese people, the ethnic group that identifies with Japan through ancestry or culture ** Japanese diaspora, Japanese emigrants and their descendants around the world * Japanese citizens, nationals of Japan under Japanese nationality law ** Foreign-born Japanese, naturalized citizens of Japan * Japanese writing system, consisting of kanji and kana * Japanese cuisine, the food and food culture of Japan See also * List of Japanese people * * Japonica (other) * Japonicum * Japonicus * Japanese studies Japanese studies (Japanese: ) or Japan studies (sometimes Japanology in Europe), is a sub-field of area studies or East Asian studies involved in social sciences and humanities research on Japan. It incorporates fields such as the study of Japanese ... {{disambiguation Language and nationality disambiguation pages ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Living People
Related categories * :Year of birth missing (living people) / :Year of birth unknown * :Date of birth missing (living people) / :Date of birth unknown * :Place of birth missing (living people) / :Place of birth unknown * :Year of death missing / :Year of death unknown * :Date of death missing / :Date of death unknown * :Place of death missing / :Place of death unknown * :Missing middle or first names See also * :Dead people * :Template:L, which generates this category or death years, and birth year and sort keys. : {{DEFAULTSORT:Living people 21st-century people People by status ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
1942 Births
Year 194 ( CXCIV) was a common year starting on Tuesday (link will display the full calendar) of the Julian calendar. At the time, it was known as the Year of the Consulship of Septimius and Septimius (or, less frequently, year 947 ''Ab urbe condita''). The denomination 194 for this year has been used since the early medieval period, when the Anno Domini calendar era became the prevalent method in Europe for naming years. Events By place Roman Empire * Emperor Septimius Severus and Decimus Clodius Septimius Albinus Caesar become Roman Consuls. * Battle of Issus: Septimius Severus marches with his army (12 legions) to Cilicia, and defeats Pescennius Niger, Roman governor of Syria. Pescennius retreats to Antioch, and is executed by Severus' troops. * Septimius Severus besieges Byzantium (194–196); the city walls suffer extensive damage. Asia * Battle of Yan Province: Warlords Cao Cao and Lü Bu fight for control over Yan Province; the battle lasts for over 100 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MEXT
The , also known as MEXT or Monka-shō, is one of the eleven Ministries of Japan that composes part of the executive branch of the Government of Japan. Its goal is to improve the development of Japan in relation with the international community. The ministry is responsible for funding research under its jurisdiction, some of which includes: children's health in relation to home environment, delta-sigma modulations utilizing graphs, gender equality in sciences, neutrino detection which contributes to the study of supernovas around the world, and other general research for the future. History The Meiji period, Meiji government created the first Ministry of Education in 1871. In January 2001, the former Ministry of Education, Science, Sports and Culture and the former merged to become the present MEXT. Organization The Ministry of Education, Culture, Sports, Science and Technology currently is led by the Minister of Education, Culture, Sports, Science and Technology. Under tha ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Genetics
Human genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling. Genes are the common factor of the qualities of most human-inherited traits. Study of human genetics can answer questions about human nature, can help understand diseases and the development of effective treatment and help us to understand the genetics of human life. This article describes only basic features of human genetics; for the genetics of disorders please see: medical genetics. Genetic differences and inheritance patterns Inheritance of traits for humans are based upon Gregor Mendel's model of inheritance. Mendel deduced that inheritance depends upon discrete units of inheritance, called factors or genes. Autosomal dominant inheritance Autosomal tr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Earwax
Earwax, also known by the medical term cerumen, is a brown, orange, red, yellowish or gray waxy substance secreted in the ear canal of humans and other mammals. It protects the skin of the human ear canal, assists in cleaning and lubrication, and provides protection against bacteria, fungi, and water. Earwax consists of dead skin cells, hair, and the secretions of cerumen by the ceruminous and sebaceous glands of the outer ear canal. Major components of earwax are long chain fatty acids, both saturated and unsaturated, alcohols, squalene, and cholesterol. Excess or compacted cerumen is the buildup of ear wax causing a blockage in the ear canal and it can press against the eardrum or block the outside ear canal or hearing aids, potentially causing hearing loss. Physiology Cerumen is produced in the cartilaginous portion which is the outer third portion of the ear canal. It is a mixture of viscous secretions from sebaceous glands and less-viscous ones from modified apocri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ABCC11
ATP-binding cassette transporter sub-family C member 11, also MRP8 (''Multidrug Resistance-Related Protein 8'') is a membrane transporter that exports certain molecules from inside a cell. It is a protein that in humans is encoded by gene ''ABCC11''. The gene is responsible for determination of human cerumen type (wet or dry ear wax) and presence of underarm osmidrosis (odor associated with sweat caused by excessive apocrine secretion). Function The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The ABCC11 transporter is a member of the MRP subfamily which is involved in multi-drug resistance. The product of this gene participates in physiological processes involving bile acids, conjugated steroids, and cyclic nucleotides. In addition, a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Single Nucleotide Polymorphism
In genetics, a single-nucleotide polymorphism (SNP ; plural SNPs ) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in a sufficiently large fraction of the population (e.g. 1% or more), many publications do not apply such a frequency threshold. For example, at a specific base position in the human genome, the G nucleotide may appear in most individuals, but in a minority of individuals, the position is occupied by an A. This means that there is a SNP at this specific position, and the two possible nucleotide variations – G or A – are said to be the alleles for this specific position. SNPs pinpoint differences in our susceptibility to a wide range of diseases, for example age-related macular degeneration (a common SNP in the CFH gene is associated with increased risk of the disease) or nonalcoholic fatty liver disease (a SNP in the PNPLA3 gene is associated with incr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Niikawa-Kuroki 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 ph ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
