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Donnai–Barrow Syndrome
Donnai–Barrow syndrome is a genetic disorder first described by Dian Donnai and Margaret Barrow in 1993. It is associated with ''LRP2''. It is an inherited (genetic) disorder that affects many parts of the body. Presentation This disorder is characterized by unusual facial features, including prominent, wide-set eyes with outer corners that point downward; a short bulbous nose with a flat nasal bridge; ears that are rotated backward; and a widow's peak hairline. Individuals with Donnai–Barrow syndrome have severe hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). In addition, they often experience vision problems, including extreme nearsightedness (high myopia), detachment or deterioration of the light-sensitive tissue in the back of the eye (the retina), and progressive vision loss. Some have a gap or split in the colored part of the eye (iris coloboma). In almost all people with Donnai–Barrow syndrome, the tissue connecting the left and r ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dian Donnai
Professor Dian Donnai (born 1945) is a British medical geneticist. Biography Donnai studied at St Mary's Hospital Medical School, then trained in paediatrics at St Mary's Hospital, Northwick Park Hospital and in Sheffield. She obtained a senior registrar training post in medical genetics at Saint Mary's Hospital, Manchester in 1978, becoming a consultant in 1980. The University of Manchester appointed her an honorary professor of medical genetics in 1994, and gave her a substantive chair in 2001. She served as president of the Clinical Genetics Society from 1997 to 1999; as consultant advisor to the United Kingdom's Chief Medical Officer from 1998 to 2004; and as president of the European Society of Human Genetics from 2009 2010. Together with Margaret Barrow, she first described the genetic disorder 'Donnai–Barrow syndrome', in 1993. She was made a Commander of the Order of the British Empire (CBE) in the 2005 New Year Honours, for services to medicine, and has also ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
LRP2
Low density lipoprotein receptor-related protein 2 also known as LRP-2 or megalin is a protein which in humans is encoded by the ''LRP2'' gene. Function LRP2 was identified as the antigen of rat experimental membranous nephropathy (Heyman nephritis) and originally named gp330 and subsequently megalin and later LRP2. LRP2/megalin is a multiligand binding receptor found in the plasma membrane of many absorptive epithelial cells. LRP2 is an approximately 600kDa (4665 amino acids) transmembrane glycoprotein with structural similarities to the low density lipoprotein receptor ( LDLR). LRP2 has a NPXY motif that is the binding site for Dab2 to initiate clathrin-mediated endocytosis. LRP2 forms a homodimer that changes conformation in response to pH. At pH 7.5 (extracellular pH), LRP2 is considered active, with the leucine loops in an open conformation to allow ligands to bind. At acidic endosomal pHs, the leucine loops collapse to prevent ligands binding. LRP2 is expressed in epi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromic Facies
In medical contexts, a facies is a distinctive facial expression or appearance associated with a specific medical condition. The term comes from Latin for "face". As a fifth declension noun, ''facies'' can be both singular and plural. Types Examples include: * Hippocratic facies – eyes are sunken, temples collapsed, nose is pinched with crusts on the lips, and the forehead is clammy * Moon face (also known as "Cushingoid facies") – Cushing's syndrome * Elfin facies – Williams syndrome, Donohue syndrome * Potter facies – oligohydramnios * Mask like facies – parkinsonism * Leonine facies – lepromatous leprosy or craniometaphyseal dysplasia * Mitral facies – mitral stenosis * Amiodarone facies (deep blue discoloration around malar area and nose) * Acromegalic facies – acromegaly * Flat facies – Down syndrome * Marfanoid facies – Marfan's syndrome * Snarling facies – myasthenia gravis * Myotonic facies – myotonic dystrophy * Torpid facies – ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
National Institutes Of Health
The National Institutes of Health (NIH) is the primary agency of the United States government responsible for biomedical and public health research. It was founded in 1887 and is part of the United States Department of Health and Human Services (HHS). Many NIH facilities are located in Bethesda, Maryland, and other nearby suburbs of the Washington metropolitan area, with other primary facilities in the Research Triangle Park in North Carolina and smaller satellite facilities located around the United States. The NIH conducts its scientific research through the NIH Intramural Research Program (IRP) and provides significant biomedical research funding to non-NIH research facilities through its Extramural Research Program. , the IRP had 1,200 principal investigators and more than 4,000 postdoctoral fellows in basic, translational, and clinical research, being the largest biomedical research institution in the world, while, as of 2003, the extramural arm provided 28% of biomedical ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Uniparental Disomy
Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent and no copy from the other. UPD can be the result of heterodisomy, in which a pair of non-identical chromosomes are inherited from one parent (an earlier stage meiosis I error) or isodisomy, in which a single chromosome from one parent is duplicated (a later stage meiosis II error). Uniparental disomy may have clinical relevance for several reasons. For example, either isodisomy or heterodisomy can disrupt parent-specific genomic imprinting, resulting in imprinting disorders. Additionally, isodisomy leads to large blocks of homozygosity, which may lead to the uncovering of recessive genes, a similar phenomenon seen in inbred children of consanguineous partners. UPD has been found to occur in about 1 in 2,000 births. Pathophysiology UPD can occur as a random event during the formation of egg cells or sperm cells or may happen in early fetal developme ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cell Surface Receptor Deficiencies
Cell most often refers to: * Cell (biology), the functional basic unit of life * Cellphone, a phone connected to a cellular network * Clandestine cell, a penetration-resistant form of a secret or outlawed organization * Electrochemical cell, a device used to convert chemical energy to electrical energy * Prison cell, a room used to hold people in prisons Cell may also refer to: Arts, entertainment, and media Fictional entities * Cell (comics), a Marvel comic book character * Cell (''Dragon Ball''), a character in the manga series ''Dragon Ball'' Literature * ''Cell'' (novel), a 2006 horror novel by Stephen King * "Cells", poem, about a hungover soldier in gaol, by Rudyard Kipling * ''The Cell'' (play), an Australian play by Robert Wales Music * Cell (music), a small rhythmic and melodic design that can be isolated, or can make up one part of a thematic context * Cell (American band) * Cell (Japanese band) * ''Cell'' (album), a 2004 album by Plastic Tree * ''Cells'', a 1998 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes Affecting The Eye
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a syn ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
