Research articles

search articles

My Pages

Stat

Members: 3645
Articles: 2'504'928
Articles rated: 2609

25 April 2024

» pubmed » pmid9242607

Article overview

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
M van Slegtenhorst ; R de Hoogt ; C Hermans ; M Nellist ; B Janssen ; S Verhoef ; D Lindhout ; A van den Ouwel ; D Halley ; J Young ; M Burley ; S Jeremiah ; K Woodward ; J Nahmias ; M Fox ; R Ekong ; J Osborne ; J Wolfe ; S Povey ; R G Snell ; J P Cheadle ; A C Jones ; M Tachataki ; D Ravine ; J R Sampson ; M P Reeve ; P Richardson ; F Wilmer ; C Munro ; T L Hawkins ; T Sepp ; J B Ali ; S Ward ; A J Green ; J R Yates ; J Kwiatkowska ; E P Henske ; M P Short ; J H Haines ; S Jozwiak ; D J Kwiatkowski ;
Date:	8 Aug 1997
Journal:	Science, 277 (5327), 805-8
Abstract:	Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the widespread development of distinctive tumors termed hamartomas. TSC-determining loci have been mapped to chromosomes 9q34 (TSC1) and 16p13 (TSC2). The TSC1 gene was identified from a 900-kilobase region containing at least 30 genes. The 8.6-kilobase TSC1 transcript is widely expressed and encodes a protein of 130 kilodaltons (hamartin) that has homology to a putative yeast protein of unknown function. Thirty-two distinct mutations were identified in TSC1, 30 of which were truncating, and a single mutation (2105delAAAG) was seen in six apparently unrelated patients. In one of these six, a somatic mutation in the wild-type allele was found in a TSC-associated renal carcinoma, which suggests that hamartin acts as a tumor suppressor.
Source:	PubMed, pmid9242607
Services:	Forum \| Review \| Favorites

No review found.

Did you like this article?

This article or document is ...
important:
of broad interest:
readable:
new:
correct:
Global appreciation:

Note: answers to reviews or questions about the article must be posted in the forum section.
Authors are not allowed to review their own article. They can use the forum section.

browser Mozilla/5.0 AppleWebKit/537.36 (KHTML, like Gecko; compatible; ClaudeBot/1.0; +claudebot@anthropic.com)

ScienXe.org
» my Online CV
» Free

News, job offers and information for researchers and scientists:

home

contact

sitemap