LitCoin-sentences  

PubMed:18366737 JSONTXT 26 Projects

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Id Subject Object Predicate Lexical cue
T1 0-156 Sentence denotes The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.
T2 157-168 Sentence denotes BACKGROUND:
T3 169-349 Sentence denotes Fumarate hydratase (HGNC approved gene symbol - FH), also known as fumarase, is an enzyme of the tricarboxylic acid (TCA) cycle, involved in fundamental cellular energy production.
T4 350-452 Sentence denotes First described by Zinn et al in 1986, deficiency of FH results in early onset, severe encephalopathy.
T5 453-625 Sentence denotes In 2002, the Multiple Leiomyoma Consortium identified heterozygous germline mutations of FH in patients with multiple cutaneous and uterine leiomyomas, (MCUL: OMIM 150800).
T6 626-802 Sentence denotes In some families renal cell cancer also forms a component of the complex and as such has been described as hereditary leiomyomatosis and renal cell cancer (HLRCC: OMIM 605839).
T7 803-1074 Sentence denotes The identification of FH as a tumor suppressor was an unexpected finding and following the identification of subunits of succinate dehydrogenase in 2000 and 2001, was only the second description of the involvement of an enzyme of intermediary metabolism in tumorigenesis.
T8 1075-1087 Sentence denotes DESCRIPTION:
T9 1088-1299 Sentence denotes The FH mutation database is a part of the TCA cycle gene mutation database (formerly the succinate dehydrogenase gene mutation database) and is based on the Leiden Open (source) Variation Database (LOVD) system.
T10 1300-1439 Sentence denotes The variants included in the database were derived from the published literature and annotated to conform to current mutation nomenclature.
T11 1440-1605 Sentence denotes The FH database applies HGVS nomenclature guidelines, and will assist researchers in applying these guidelines when directly submitting new sequence variants online.
T12 1606-1845 Sentence denotes Since the first molecular characterization of an FH mutation by Bourgeron et al in 1994, a series of reports of both FH deficiency patients and patients with MCUL/HLRRC have described 107 variants, of which 93 are thought to be pathogenic.
T13 1846-1991 Sentence denotes The most common type of mutation is missense (57%), followed by frameshifts & nonsense (27%), and diverse deletions, insertions and duplications.
T14 1992-2073 Sentence denotes Here we introduce an online database detailing all reported FH sequence variants.
T15 2074-2085 Sentence denotes CONCLUSION:
T16 2086-2188 Sentence denotes The FH mutation database strives to systematically unify all current genetic knowledge of FH variants.
T17 2189-2485 Sentence denotes We believe that this knowledge will assist clinical geneticists and treating physicians when advising patients and their families, will provide a rapid and convenient resource for research scientists, and may eventually assist in gaining novel insights into FH and its related clinical syndromes.