Geometry.Net - Health_Conditions: Tangier Disease


Home - Health_Conditions - Tangier Disease

e99.com Bookstore

Images

Newsgroups

1-20 of 90 1 | 2 | 3 | 4 | 5 | Next 20

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Tangier Disease: more detail

Tangier disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Lisa, MS, CGC Andres, 2005

Tangier Disease - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-19

Tangier Disease

Tonsils and apolipoproteins;: Lessons about plasma lipoproteins derived from Tangier disease and other mutants (JimeÌnez DiÌaz memorial lecture) by Donald S Fredrickson, 1976

lists with details

Tangier Disease
An explanation of this disease and its name, its causes and treatment.Category Health Conditions and Diseases Tangiertangier disease (TD) is a genetic disorder of cholesterol transport namedfor the secluded island of Tangier, located off the coast of Virginia.
http://www.ncbi.nlm.nih.gov/disease/tangier.html

Extractions: TANGIER DISEASE (TD) is a genetic disorder of cholesterol transport named for the secluded island of Tangier, located off the coast of Virginia. TD was first identified in a five-year-old inhabitant of the island who had characteristic orange tonsils, very low levels of high density lipoprotein (HDL) or 'good cholesterol', and an enlarged liver and spleen. TD is caused by mutations in the (ATP-binding cassette) gene on chromosome 9q31. codes for a protein that helps rid cells of excess cholesterol. This cholesterol is then picked up by HDL particles in the blood and carried to the liver, which processes the cholesterol to be reused in cells throughout the body. Individuals with TD are unable to eliminate cholesterol from cells, leading to its buildup in the tonsils and other organs. The discovery of this important cholesterol transport gene may lead to a better understanding of the inverse relationship between HDL levels and coronary artery disease, an important killer in the US. New drugs that regulate HDL levels may be developed and such drugs would not only help individuals with TD, but also people with more common disorders such as familial HDL deficiency. This is a good illustration of how research into rare diseases can sometimes help more common disorders.
Tangier Disease
An article about his disease, its symptoms, clinical symptoms, diagnosis and some dietary changes.
http://endeavor.med.nyu.edu/student-org/ama/docs/mgb1999-2000/ab14.htm
Tangier Disease By Jackie Newman
An article about this rare disease, its history, characteristics of the disease and the treatments.
http://www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997 Case Studies/J. Newman

Extractions: Tangier Disease is an extremely rare autosomal recessive metabolic disorder. Documentation shows that as of 1988, 27 cases of Tangier Disease had been reported (Makrides pg.465) and in 1992 the reported cases were still fewer than 50 persons worldwide (Thoene pg.265). The majority of the cases tend to localize in one single area of the U.S., Tangier Island, Virginia. The fact that most of the people that are affected by Tangier disease all live in close proximity to one another could be due to Founder's effect. The original settlers to the island came in 1686 and it is possible that one or two of them were carriers of the disease or actually had the symptoms and passed it down through the blood line. Characteristics of Tangier Disease include increased levels or even a complete absence of high-density lipoproteins (HDL) concentrations in one's plasma, low cholesterol levels in the plasma, increased cholesteryl esters in the tonsils, spleen, liver, skin and lymph nodes. One easily visual characteristic usually found in children with Tangier disease is the presence of enlarged, yellow-orange tonsils. Initial research of Tangier disease showed a marked decrease in the HDL concentrations when compared to normal controls. In some cases the reduction was as great as 50% (Schmitz pg.6306). Scientists studied the HDL concentrations and looked for any possible links in its involvement with the disease. They specifically looked at the apo A-I (apolipoprotein) concentrations, which is a major protein component of HDL.
Tangier Disease
Disease Type Genetic Disease SubType Chromosome 9 In tangier disease exact link between the underlying cause, and the observed symptoms and physiological effects remain unknown.
http://www.diseasedir.org.uk/genetic/gene0901.htm

Extractions: Disease Sub-Type: Chromosome 9 Pathology In Tangier disease exact link between the underlying cause, and the observed symptoms and physiological effects remain unknown. Tangiers disease is characterised by a defect in the efflux (flowing out of the cell) of cholesterol and its associated esters. This is detected in a large reduction in high-density lipoprotein (HDL) HDL is important because it redistributes fat around the body. On consumption of a meal, fat is first patched into 'chylomicrons' in the intestine. The Chylomicrons are absorbed into the liver, which processes them and releases them as VLDL, and LDL lipoproteins. The VLDL and LDL are distributed throughout the body, and absorbed by a variety of tissues. These tissues and organs then re-emit the particles as HDL lipoportiens to recycle unused cholesterol back to the liver. It is this final step which is in some way defective in Tangiers disease, surprisingly however, it leads to large deposits of cholesterol in the tonsils, and not the more common HDL emmiter tissues, for example muscles. It is thought that the repackaging into HDL requires either a Apolipoprotein mediated mechanism, or a aqueos method. In Tangiers disease it is thought that only the apolipoprotein mediated mechanism is at fault as this method is known to be used by Macrophage cells, which are present in the tonsils.
The Scientist - The Race To Find The Tangier Disease Gene
The Race to Find the tangier disease Gene. This paper had data from five familiesto demonstrate numerous mutations in ABCA1 that cause tangier disease.
http://www.the-scientist.com/yr2001/oct/hot_011001.html

Extractions: For this article, Brendan A. Maher interviewed Michael R. Hayden , director and senior scientist, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Canada; Stephan Rust Gerd Schmitz , a physician and director of the Institut for Clinical Chemistry and Laboratory Medicine, University Hospital, Regensburg. Data from the Web of Science (ISI, Philadelphia,) show that Hot Papers are cited 50 to 100 times more often than the average paper of the same type and age. A. Brooks-Wilson, M. Marcil, S. M. Clee, L. Zhang, K. Roomp, M. van Dam, L. Yu, C. Brewer, J. A. Collins, H.O.F. Molhuizen, O. Loubser, B.F. F. Ouelette, K. Fichter, K.J.D. Ashbourne-Excoffon, C.W. Sensen, S. Scherer, S. Mott, M. Denis, D. Martindale, J. Frolich, K. Morgan, B. Koop, S. Pimstone, J.J.P. Kastelein, J. Genest Jr., M. R. Hayden, "Mutations in in Tangier disease and familial high-density lipoprotein deficiency,"
HONselect - Tangier Disease
Translate this page English tangier disease, - A-alphalipoprotein Neuropathy - Analphalipoproteinemia- Familial High-Density Lipoprotein Deficiency Disease
http://www.hon.ch/HONselect/RareDiseases/C10.668.829.800.875.html
172 A Defective Gene Associated With Atherosclerosis Tangier
tangier disease was first discovered nearly 40 years ago by Donald Fredrickson and colleagues in two sibs living on
http://www.faseb.org/genetics/ashg99/f172.htm
Tangier Disease
Abstract. tangier disease. LF. Haas, WI. Austad and JD.
http://www3.oup.co.uk/jnls/supplements/braini/hdb/Volume_97/Issue_02/970351.sgm.
SmartEngine - SmartGuide ( DISEASE : Tangier Disease )
All about DISEASE tangier disease from SmartEngine.com Search For . DISEASE tangier disease. Categories (1-1 of 1)
http://disease.smartengine.com/shell/smartpage/Tangier_Disease
Entrez-PubMed
Comment in Nat Genet. 1999 Aug;22(4)3168. Click here to read Mutations inABC1 in tangier disease and familial high-density lipoprotein deficiency.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1
Tangier Disease By Jackie Newman
tangier disease. by Jackie Newman. tangier disease is an extremely rare autosomal recessive metabolic disorder.
http://www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997%20Case%20Studies/J.%20

Extractions: Tangier Disease is an extremely rare autosomal recessive metabolic disorder. Documentation shows that as of 1988, 27 cases of Tangier Disease had been reported (Makrides pg.465) and in 1992 the reported cases were still fewer than 50 persons worldwide (Thoene pg.265). The majority of the cases tend to localize in one single area of the U.S., Tangier Island, Virginia. The fact that most of the people that are affected by Tangier disease all live in close proximity to one another could be due to Founder's effect. The original settlers to the island came in 1686 and it is possible that one or two of them were carriers of the disease or actually had the symptoms and passed it down through the blood line. Characteristics of Tangier Disease include increased levels or even a complete absence of high-density lipoproteins (HDL) concentrations in one's plasma, low cholesterol levels in the plasma, increased cholesteryl esters in the tonsils, spleen, liver, skin and lymph nodes. One easily visual characteristic usually found in children with Tangier disease is the presence of enlarged, yellow-orange tonsils. Initial research of Tangier disease showed a marked decrease in the HDL concentrations when compared to normal controls. In some cases the reduction was as great as 50% (Schmitz pg.6306). Scientists studied the HDL concentrations and looked for any possible links in its involvement with the disease. They specifically looked at the apo A-I (apolipoprotein) concentrations, which is a major protein component of HDL.
The Scientist :: Flipping The Fat-Sensing Switch, Volume 16, Issue 16, Aug. 19,
When the molecular basis of tangier disease was discovered in 1999,1 researchers lined up to study this orphan genetic disorder.
http://www.the-scientist.com/yr2002/aug/hot_020819.html

Extractions: When the molecular basis of Tangier disease was discovered in 1999, researchers lined up to study this orphan genetic disorder. Patients with Tangier have a propensity for heart disease and atherosclerosis, making this rare malady a model for some pressing health problems found in industrialized nations. Following close behind the discovery of the Tangier gene were two studies, now deemed Hot Papers, that examined some of the molecular mechanisms upstream of the ATP-binding cassette A1 (ABCA1) involved in cholesterol transport and defective in patients with Tangier. One in vitro study demonstrated an orphan nuclear hormone receptor that senses the presence of cholesterol and turns on The second paper showed how molecules activating this gene and related pathways can block absorption of dietary cholesterol in mice. No one missed the obvious therapeutic applications, but figuring out how safely to flip the fat-sensing switch continues to elude them.
HUM-MOLGEN: The Inside Story Of Tangier Disease (The Scientist)
your information resource in human molecular genetics. tangier disease is a rare genetic disorder of lipid metabolism.
http://www.hum-molgen.org/bb/Forum7/HTML/000552.html

Extractions: home genetic news bioinformatics biotechnology ... register for news alert The inside story of Tangier Disease (The Scientist) September, 27 2001 15:54 Tangier disease is a rare genetic disorder of lipid metabolism. Study of this disease has provided important insight into cholesterol metabolism and a common metropolitan disease, coronary artery disease. This article presented interviews with some of the key players: Michael R. Hayden, director and senior scientist, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Canada; Stephan Rust, cholesterol metabolism group leader at the Institut für Arterioskleroseforschung an der Westfälischen Wilhelms-Universistät; and Gerd Schmitz, a physician and director of the Institut for Clinical Chemistry and Laboratory Medicine, University Hospital, Regensburg. Full story in The Scientist, Oct 1, 2001
Proximal Sensory
Brachial plexopathy. Rule out Myelopathy. Ana-lipoproteinemia (tangier disease)l ATP binding cassette transporter (ABC1) ; Chromosome 9q31; Codominant
http://www.neuro.wustl.edu/neuromuscular/nanatomy/proxsens.html
Lipids Online Slides: Tangier Disease, Apolipoprotein A-I, Tonsils
apolipoprotein AI. tangier disease. tangier disease. tangier disease Slide Tray. SearchSlides. Index of Slide Contents. search tangier disease results 4. 1
http://www.lipidsonline.org/slides/slide01.cfm?q=Tangier disease
Lipids Online Slides: Tonsils, Tangier Disease, Hepatosplenomegaly
tangier disease. tangier disease Slide Tray. tangier disease. Physiologyand Pathophysiology of HDL Metabolism (Daniel J. Rader, MD).
http://www.lipidsonline.org/slides/slide01.cfm?q=tonsils
[Tangier Disease Collage] [1960s]
Profiles in Science The Donald Fredrickson Papers. Title Tangierdisease collage (high resolution jpg) High resolution version
http://profiles.nlm.nih.gov/FF/B/B/D/P/
Nature Publishing Group
4 pp 352 355 tangier disease is caused by mutations in the gene encoding ATP-bindingcassette transporter 1 Stephan Rust 1 , Marie Rosier 2 , Harald Funke 1
http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v22/n4/full/ng0899_3
Nature Publishing Group
Assignment of tangier disease to chromosome 9q31 by a graphical linkage exclusionstrategy Stephan Rust 1 , Michael Walter 1, 2 , Harald Funke 1, 2 , Arnold
http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v20/n1/full/ng0998_9
173 Mutations In Transportin (ABC1) In Tangier Disease And
Program Nr 173 Mutations in transportin (ABC1) in tangier disease and familialHDL deficiency. AR BrooksWilson 1 , M. Marcil 1 , SM Clee 2 , LH.
http://www.faseb.org/genetics/ashg99/f173.htm

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

1-20 of 90 1 | 2 | 3 | 4 | 5 | Next 20