Book Description
This digital document is a journal article from Mutation Research-Reviews in Mutation Research, published by Elsevier in 2006. The article is delivered in HTML format and is available in your Amazon.com Media Library immediately after purchase. You can view it with any web browser.

Description:
Tuberous sclerosis complex (TSC) is an autosomal dominant tumor syndrome that affects ~1 in 6000 individuals. It is characterized by the development of tumors, named hamartomas, in the kidneys, heart, skin and brain. The latter often cause seizures, mental retardation, and a variety of developmental disorders, including autism. This disease is caused by mutations within the tumor suppressor gene TSC1 on chromosome 9q34 encoding hamartin or within TSC2 on chromosome 16p13.3 encoding tuberin. TSC patients carry a mutant TSC1 or TSC2 gene in each of their somatic cells, and loss of heterozygosity has been documented in a wide variety of TSC tumors. Recent data suggest that functional inactivation of TSC proteins might also be involved in the development of other diseases not associated with TSC, such as sporadic bladder cancer, breast cancer, ovarian carcinoma, gall bladder carcinoma, non-small-cell carcinoma of the lung, and Alzheimer's disease. Tuberin and hamartin form a heterodimer, suggesting they might affect the same processes. Tuberin is assumed to be the functional component of the complex and has been implicated in the regulation of different cellular functions. The TSC proteins regulate cell size control due to their involvement in the insulin signalling pathway. Furthermore, they are potent positive regulators of the cyclin-dependent kinase inhibitor p27, a major regulator of the mammalian cell cycle. Here we review the current knowledge on how mutations within the TSC genes could trigger deregulation of stability and localization of the tumor suppressor p27. ... Read more

Book Description
This digital document is an article from Family Practice News, published by International Medical News Group on February 1, 2000. The length of the article is 403 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser.

Citation Details
Title: Defer Extensive Work-Up in Most Cases of Ash Leaf Macules.
Author: Barbara Baker
Publication: Family Practice News (Magazine/Journal)
Date: February 1, 2000
Publisher: International Medical News Group
Volume: 10Issue: 3Page: 41

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Book Description
This digital document is an article from Jet, published by Thomson Gale on March 5, 2007. The length of the article is 643 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser.

Citation Details
Title: Teen boy battles rare disease with the help of his mom.(HEALTH)
Author: Dana Slagle
Publication: Jet (Magazine/Journal)
Date: March 5, 2007
Publisher: Thomson Gale
Volume: 111Issue: 9Page: 46(2)

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Book Description
This digital document is an article from Family Practice News, published by International Medical News Group on June 1, 2001. The length of the article is 6381 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser.

Citation Details
Title: DERM DIAGNOSIS.(Brief Article)
Author: Timothy F. Kirn
Publication: Family Practice News (Magazine/Journal)
Date: June 1, 2001
Publisher: International Medical News Group
Volume: 31Issue: 11Page: 14

Article Type: Brief Article

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Book Description
Neurocutaneous diseases are a wide group of conditions that affect the nervous system but appear as lesions of the skin. Some of the more common entities have variable forms of expression that can confuse the diagnosis; for the rare conditions it is difficult to find descriptions in the literature. Recent insights into their cellular, biochemical and molecular genetic bases have shown the essential need for a new nosology and updated genotype-phenotype correlations. The book provides an authoritative source ofknowledge about these difficult problems and bridges the gap between clinical recognition and the new molecular medicine.The editors, distinguished clinicians and geneticists, assembled an internationally renowned group of collaborators, many of them the experts who first described a particular disorder or established its present accepted definition. They have written a practical, comprehensive guide to the recognition, investigation and management of more than 60 recognised phakomatoses. ... Read more