title: The thyrotropin receptor mutation database: update 2003.
abstract: In 1999 we have created a TSHR mutation database compiling TSHR mutations with their basic characteristics and associated clinical conditions (www.uni-leipzig.de/innere/tshr). Since then, more than 2887 users from 36 countries have logged into the TSHR mutation database and have contributed several valuable suggestions for further improvement of the database. We now present an updated and extended version of the TSHR database to which several novel features have been introduced: 1. detailed functional characteristics on all 65 mutations (43 activating and 22 inactivating mutations) reported to date, 2. 40 pedigrees with detailed information on molecular aspects, clinical courses and treatment options in patients with gain-of-function and loss-of-function germline TSHR mutations, 3. a first compilation of site-directed mutagenesis studies, 4. references with Medline links, 5. a user friendly search tool for specific database searches, user-specific database output and 6. an administrator tool for the submission of novel TSHR mutations. The TSHR mutation database is installed as one of the locus specific HUGO mutation databases. It is listed under index TSHR 603372 (http://ariel.ucs.unimelb.edu.au/~cotton/glsdbq.htm) and can be accessed via www.uni-leipzig.de/innere/tshr.
authors.affiliation: III. Department of Medicine, University of Leipzig, Leipzig, Germany.
authors.forename: Dagmar
authors.initials: D
authors.lastname: Führer
authors.forename: Peter
authors.initials: P
authors.lastname: Lachmund
authors.forename: Istvan-Tibor
authors.initials: IT
authors.lastname: Nebel
authors.forename: Ralf
authors.initials: R
authors.lastname: Paschke
mesh_terms: D016208:Databases, Factual; D018095:Germ-Line Mutation; D006801:Humans; D009154:Mutation; D010375:Pedigree; D011989:Receptors, Thyrotropin / Q000235:genetics*
chemical_list: D011989:Receptors, Thyrotropin