FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2067070422> ?p ?o ?g. }

• W2067070422 endingPage "46" @default.
• W2067070422 startingPage "37" @default.
• W2067070422 abstract "Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy. The axonal form of the disease is designated as CMT type 2 (CMT2). Although four loci known to be implicated in autosomal dominant CMT2 have been mapped thus far (on 1p35-p36, 3q13. 1, 3q13-q22, and 7p14), no one causative gene is yet known. A large Russian family with CMT2 was found in the Mordovian Republic (Russia). Affected members had the typical CMT2 phenotype. Additionally, several patients suffered from hyperkeratosis, although the association, if any, between the two disorders is not clear. Linkage with the CMT loci already known (CMT1A, CMT1B, CMT2A, CMT2B, CMT2D, and a number of other CMT-related loci) was excluded. Genomewide screening pinpointed the disease locus in this family to chromosome 8p21, within a 16-cM interval between markers D8S136 and D8S1769. A maximum two-point LOD score of 5.93 was yielded by a microsatellite from the 5' region of the neurofilament-light gene (NF-L). Neurofilament proteins play an important role in axonal structure and are implicated in several neuronal disorders. Screening of affected family members for mutations in the NF-L gene and in the tightly linked neurofilament-medium gene (NF-M) revealed the only DNA alteration linked with the disease: a A998C transversion in the first exon of NF-L, which converts a conserved Gln333 amino acid to proline. This alteration was not found in 180 normal chromosomes. Twenty unrelated CMT2 patients, as well as 26 others with an undetermined form of CMT, also were screened for mutations in NF-L, but no additional mutations were found. It is suggested that Gln333Pro represents a rare disease-causing mutation, which results in the CMT2 phenotype." @default.
• W2067070422 created "2016-06-24" @default.
• W2067070422 creator A5016104983 @default.
• W2067070422 creator A5031663003 @default.
• W2067070422 creator A5045925268 @default.
• W2067070422 creator A5054646580 @default.
• W2067070422 creator A5059189095 @default.
• W2067070422 creator A5062962565 @default.
• W2067070422 creator A5063180544 @default.
• W2067070422 creator A5075900681 @default.
• W2067070422 date "2000-07-01" @default.
• W2067070422 modified "2023-10-10" @default.
• W2067070422 title "A New Variant of Charcot-Marie-Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light Gene" @default.
• W2067070422 cites W1526961479 @default.
• W2067070422 cites W1557488126 @default.
• W2067070422 cites W1637939020 @default.
• W2067070422 cites W1921484215 @default.
• W2067070422 cites W1971960152 @default.
• W2067070422 cites W1973457937 @default.
• W2067070422 cites W1977917765 @default.
• W2067070422 cites W1981097683 @default.
• W2067070422 cites W1982647438 @default.
• W2067070422 cites W1986234504 @default.
• W2067070422 cites W1990516869 @default.
• W2067070422 cites W1991973434 @default.
• W2067070422 cites W1999113624 @default.
• W2067070422 cites W2001966191 @default.
• W2067070422 cites W2009739954 @default.
• W2067070422 cites W2010087324 @default.
• W2067070422 cites W2011575330 @default.
• W2067070422 cites W2013473672 @default.
• W2067070422 cites W2015667893 @default.
• W2067070422 cites W2017428806 @default.
• W2067070422 cites W2019978409 @default.
• W2067070422 cites W2020274354 @default.
• W2067070422 cites W2024207526 @default.
• W2067070422 cites W2028954557 @default.
• W2067070422 cites W2029225256 @default.
• W2067070422 cites W2035748450 @default.
• W2067070422 cites W2037089513 @default.
• W2067070422 cites W2039494936 @default.
• W2067070422 cites W2047342629 @default.
• W2067070422 cites W2056808670 @default.
• W2067070422 cites W2060792213 @default.
• W2067070422 cites W2064713079 @default.
• W2067070422 cites W2067250059 @default.
• W2067070422 cites W2073614451 @default.
• W2067070422 cites W2074327380 @default.
• W2067070422 cites W2079813196 @default.
• W2067070422 cites W2080202616 @default.
• W2067070422 cites W2083856144 @default.
• W2067070422 cites W2090944345 @default.
• W2067070422 cites W2093211495 @default.
• W2067070422 cites W2103256993 @default.
• W2067070422 cites W2115033587 @default.
• W2067070422 cites W2116126088 @default.
• W2067070422 cites W2122641411 @default.
• W2067070422 cites W2134254505 @default.
• W2067070422 cites W2134309097 @default.
• W2067070422 cites W2135518185 @default.
• W2067070422 cites W2135890131 @default.
• W2067070422 cites W2140063597 @default.
• W2067070422 cites W2160287088 @default.
• W2067070422 cites W2162489621 @default.
• W2067070422 cites W2163385904 @default.
• W2067070422 cites W2167206356 @default.
• W2067070422 cites W2171602378 @default.
• W2067070422 cites W2183066478 @default.
• W2067070422 cites W2321918404 @default.
• W2067070422 cites W2352924494 @default.
• W2067070422 cites W2399774252 @default.
• W2067070422 cites W2401927203 @default.
• W2067070422 cites W4302501119 @default.
• W2067070422 cites W86817513 @default.
• W2067070422 doi "https://doi.org/10.1086/302962" @default.
• W2067070422 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1287099" @default.
• W2067070422 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10841809" @default.
• W2067070422 hasPublicationYear "2000" @default.
• W2067070422 type Work @default.
• W2067070422 sameAs 2067070422 @default.
• W2067070422 citedByCount "380" @default.
• W2067070422 countsByYear W20670704222012 @default.
• W2067070422 countsByYear W20670704222013 @default.
• W2067070422 countsByYear W20670704222014 @default.
• W2067070422 countsByYear W20670704222015 @default.
• W2067070422 countsByYear W20670704222016 @default.
• W2067070422 countsByYear W20670704222017 @default.
• W2067070422 countsByYear W20670704222018 @default.
• W2067070422 countsByYear W20670704222019 @default.
• W2067070422 countsByYear W20670704222020 @default.
• W2067070422 countsByYear W20670704222021 @default.
• W2067070422 countsByYear W20670704222022 @default.
• W2067070422 countsByYear W20670704222023 @default.
• W2067070422 crossrefType "journal-article" @default.
• W2067070422 hasAuthorship W2067070422A5016104983 @default.
• W2067070422 hasAuthorship W2067070422A5031663003 @default.
• W2067070422 hasAuthorship W2067070422A5045925268 @default.
• W2067070422 hasAuthorship W2067070422A5054646580 @default.

• next