FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2055083485> ?p ?o ?g. }

• W2055083485 abstract "Hereditary myopathy with early respiratory failure (HMERF) was described in several North European families and recently linked to a titin gene (TTN) mutation. We independently studied HMERF-like diseases with the purpose to identify the cause, refine diagnostic criteria, and estimate the frequency of this disease among myopathy patients of various ethnic origins.Whole exome sequencing analysis was carried out in a large U.S. family that included seven members suffering from skeletal muscle weakness and respiratory failure. Subsequent mutation screening was performed in further 45 unrelated probands with similar phenotypes. Studies included muscle strength evaluation, nerve conduction studies and concentric needle EMG, respiratory function test, cardiologic examination, and muscle biopsy.A novel TTN p.Gly30150Asp mutation was identified in the highly conserved A-band of titin that co-segregated with the disease in the U.S. family. Screening of 45 probands initially diagnosed as myofibrillar myopathy (MFM) but excluded based on molecular screening for the known MFM genes led to the identification of a previously reported TTN p.Cys30071Arg mutation in one patient. This same mutation was also identified in a patient with suspected HMERF. The p.Gly30150Asp and p.Cys30071Arg mutations are localized to a side chain of fibronectin type III element A150 of the 10th C-zone super-repeat of titin.Missense mutations in TTN are the cause of HMERF in families of diverse origins. A comparison of phenotypic features of HMERF caused by the three known TTN mutations in various populations allowed to emphasize distinct clinical/pathological features that can serve as the basis for diagnosis. The newly identified p.Gly30150Asp and the p.Cys30071Arg mutation are localized to a side chain of fibronectin type III element A150 of the 10th C-zone super-repeat of titin." @default.
• W2055083485 created "2016-06-24" @default.
• W2055083485 creator A5000613751 @default.
• W2055083485 creator A5012178121 @default.
• W2055083485 creator A5013496858 @default.
• W2055083485 creator A5016992683 @default.
• W2055083485 creator A5019557631 @default.
• W2055083485 creator A5062436001 @default.
• W2055083485 creator A5074842638 @default.
• W2055083485 creator A5087659852 @default.
• W2055083485 creator A5090062651 @default.
• W2055083485 creator A5091815189 @default.
• W2055083485 date "2013-03-20" @default.
• W2055083485 modified "2023-10-09" @default.
• W2055083485 title "Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins" @default.
• W2055083485 cites W102016573 @default.
• W2055083485 cites W1774689153 @default.
• W2055083485 cites W1815860013 @default.
• W2055083485 cites W1965531720 @default.
• W2055083485 cites W1966735618 @default.
• W2055083485 cites W1967472866 @default.
• W2055083485 cites W1971821609 @default.
• W2055083485 cites W1974959278 @default.
• W2055083485 cites W1977378217 @default.
• W2055083485 cites W1978150593 @default.
• W2055083485 cites W1988840538 @default.
• W2055083485 cites W1989474294 @default.
• W2055083485 cites W1991524483 @default.
• W2055083485 cites W1996361222 @default.
• W2055083485 cites W1999250917 @default.
• W2055083485 cites W2006274375 @default.
• W2055083485 cites W2007340832 @default.
• W2055083485 cites W2010188733 @default.
• W2055083485 cites W2022207027 @default.
• W2055083485 cites W2022340517 @default.
• W2055083485 cites W2026080348 @default.
• W2055083485 cites W2028687363 @default.
• W2055083485 cites W2031275587 @default.
• W2055083485 cites W2034521714 @default.
• W2055083485 cites W2041663954 @default.
• W2055083485 cites W2044732766 @default.
• W2055083485 cites W2046447416 @default.
• W2055083485 cites W2058140004 @default.
• W2055083485 cites W2058973709 @default.
• W2055083485 cites W2075242982 @default.
• W2055083485 cites W2084578579 @default.
• W2055083485 cites W2086368392 @default.
• W2055083485 cites W2089625719 @default.
• W2055083485 cites W2091831926 @default.
• W2055083485 cites W2095130754 @default.
• W2055083485 cites W2095643828 @default.
• W2055083485 cites W2104627343 @default.
• W2055083485 cites W2107549503 @default.
• W2055083485 cites W2110081857 @default.
• W2055083485 cites W2117279697 @default.
• W2055083485 cites W2118202513 @default.
• W2055083485 cites W2121061987 @default.
• W2055083485 cites W2122967682 @default.
• W2055083485 cites W2125772309 @default.
• W2055083485 cites W2139789822 @default.
• W2055083485 cites W2139994318 @default.
• W2055083485 cites W2166483453 @default.
• W2055083485 cites W2167989424 @default.
• W2055083485 cites W2169272271 @default.
• W2055083485 cites W2406138971 @default.
• W2055083485 cites W4239689251 @default.
• W2055083485 doi "https://doi.org/10.1186/1471-2377-13-29" @default.
• W2055083485 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3610280" @default.
• W2055083485 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23514108" @default.
• W2055083485 hasPublicationYear "2013" @default.
• W2055083485 type Work @default.
• W2055083485 sameAs 2055083485 @default.
• W2055083485 citedByCount "37" @default.
• W2055083485 countsByYear W20550834852013 @default.
• W2055083485 countsByYear W20550834852014 @default.
• W2055083485 countsByYear W20550834852015 @default.
• W2055083485 countsByYear W20550834852016 @default.
• W2055083485 countsByYear W20550834852017 @default.
• W2055083485 countsByYear W20550834852018 @default.
• W2055083485 countsByYear W20550834852019 @default.
• W2055083485 countsByYear W20550834852020 @default.
• W2055083485 countsByYear W20550834852021 @default.
• W2055083485 countsByYear W20550834852023 @default.
• W2055083485 crossrefType "journal-article" @default.
• W2055083485 hasAuthorship W2055083485A5000613751 @default.
• W2055083485 hasAuthorship W2055083485A5012178121 @default.
• W2055083485 hasAuthorship W2055083485A5013496858 @default.
• W2055083485 hasAuthorship W2055083485A5016992683 @default.
• W2055083485 hasAuthorship W2055083485A5019557631 @default.
• W2055083485 hasAuthorship W2055083485A5062436001 @default.
• W2055083485 hasAuthorship W2055083485A5074842638 @default.
• W2055083485 hasAuthorship W2055083485A5087659852 @default.
• W2055083485 hasAuthorship W2055083485A5090062651 @default.
• W2055083485 hasAuthorship W2055083485A5091815189 @default.
• W2055083485 hasBestOaLocation W20550834851 @default.
• W2055083485 hasConcept C104317684 @default.
• W2055083485 hasConcept C126322002 @default.
• W2055083485 hasConcept C142724271 @default.
• W2055083485 hasConcept C16671776 @default.
• W2055083485 hasConcept C188997412 @default.

• next