FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1488578418> ?p ?o ?g. }

• W1488578418 endingPage "429" @default.
• W1488578418 startingPage "423" @default.
• W1488578418 abstract "Desmin myopathy is a familial or sporadic disorder characterized by intracytoplasmic accumulation of desmin in the muscle cells. We and others have previously identified desmin gene mutations in patients with familial myopathy, but close to 45% of the patients do not report previous family history of the disease. The present study was conducted to determine the cause of desmin myopathy in a sporadic patient presenting with symmetrical muscle weakness and atrophy combined with atrioventricular conduction block requiring a permanent pacemaker. A novel heterozygous R406W mutation in the desmin gene was identified by sequencing cDNA and genomic DNA. Expression of a construct containing the patient's mutant desmin cDNA in SW13 (vim-) cells demonstrated a high pathogenic potential of the R406W mutation. This mutation was not found in the patient's father, mother or sister by sequencing and restriction analysis. Testing with five microsatellite markers and four intragenic single nucleotide polymorphisms excluded alternative paternity. Haplotype analysis indicates that the patient's father was germ-line mosaic for the desmin mutation. We conclude that de novo mutations in the desmin gene may be the cause of sporadic forms of desmin-related cardiac and skeletal myopathy." @default.
• W1488578418 created "2016-06-24" @default.
• W1488578418 creator A5005758338 @default.
• W1488578418 creator A5019557631 @default.
• W1488578418 creator A5024335893 @default.
• W1488578418 creator A5054794126 @default.
• W1488578418 creator A5059200987 @default.
• W1488578418 creator A5062041588 @default.
• W1488578418 creator A5065410187 @default.
• W1488578418 creator A5090062651 @default.
• W1488578418 date "2000-06-01" @default.
• W1488578418 modified "2023-09-23" @default.
• W1488578418 title "Sporadic cardiac and skeletal myopathy caused by a <i>de novo</i> desmin mutation" @default.
• W1488578418 cites W1565633801 @default.
• W1488578418 cites W1604252033 @default.
• W1488578418 cites W1965881002 @default.
• W1488578418 cites W1968578519 @default.
• W1488578418 cites W1969023545 @default.
• W1488578418 cites W1970818426 @default.
• W1488578418 cites W1978706392 @default.
• W1488578418 cites W1989016116 @default.
• W1488578418 cites W1995118194 @default.
• W1488578418 cites W1995461033 @default.
• W1488578418 cites W2007346530 @default.
• W1488578418 cites W2010573880 @default.
• W1488578418 cites W2017125050 @default.
• W1488578418 cites W2022426908 @default.
• W1488578418 cites W2040282341 @default.
• W1488578418 cites W2044510502 @default.
• W1488578418 cites W2046389503 @default.
• W1488578418 cites W2057273083 @default.
• W1488578418 cites W2060017281 @default.
• W1488578418 cites W2064148587 @default.
• W1488578418 cites W2076407783 @default.
• W1488578418 cites W2083887563 @default.
• W1488578418 cites W2092295339 @default.
• W1488578418 cites W2104555172 @default.
• W1488578418 cites W2109847142 @default.
• W1488578418 cites W2122412289 @default.
• W1488578418 cites W2153567613 @default.
• W1488578418 cites W2157479429 @default.
• W1488578418 doi "https://doi.org/10.1034/j.1399-0004.2000.570604.x" @default.
• W1488578418 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10905661" @default.
• W1488578418 hasPublicationYear "2000" @default.
• W1488578418 type Work @default.
• W1488578418 sameAs 1488578418 @default.
• W1488578418 citedByCount "36" @default.
• W1488578418 countsByYear W14885784182012 @default.
• W1488578418 countsByYear W14885784182013 @default.
• W1488578418 countsByYear W14885784182014 @default.
• W1488578418 countsByYear W14885784182015 @default.
• W1488578418 countsByYear W14885784182018 @default.
• W1488578418 countsByYear W14885784182020 @default.
• W1488578418 countsByYear W14885784182023 @default.
• W1488578418 crossrefType "journal-article" @default.
• W1488578418 hasAuthorship W1488578418A5005758338 @default.
• W1488578418 hasAuthorship W1488578418A5019557631 @default.
• W1488578418 hasAuthorship W1488578418A5024335893 @default.
• W1488578418 hasAuthorship W1488578418A5054794126 @default.
• W1488578418 hasAuthorship W1488578418A5059200987 @default.
• W1488578418 hasAuthorship W1488578418A5062041588 @default.
• W1488578418 hasAuthorship W1488578418A5065410187 @default.
• W1488578418 hasAuthorship W1488578418A5090062651 @default.
• W1488578418 hasConcept C104317684 @default.
• W1488578418 hasConcept C147447768 @default.
• W1488578418 hasConcept C153911025 @default.
• W1488578418 hasConcept C203014093 @default.
• W1488578418 hasConcept C204232928 @default.
• W1488578418 hasConcept C2777300911 @default.
• W1488578418 hasConcept C2779072444 @default.
• W1488578418 hasConcept C501734568 @default.
• W1488578418 hasConcept C54355233 @default.
• W1488578418 hasConcept C86803240 @default.
• W1488578418 hasConceptScore W1488578418C104317684 @default.
• W1488578418 hasConceptScore W1488578418C147447768 @default.
• W1488578418 hasConceptScore W1488578418C153911025 @default.
• W1488578418 hasConceptScore W1488578418C203014093 @default.
• W1488578418 hasConceptScore W1488578418C204232928 @default.
• W1488578418 hasConceptScore W1488578418C2777300911 @default.
• W1488578418 hasConceptScore W1488578418C2779072444 @default.
• W1488578418 hasConceptScore W1488578418C501734568 @default.
• W1488578418 hasConceptScore W1488578418C54355233 @default.
• W1488578418 hasConceptScore W1488578418C86803240 @default.
• W1488578418 hasIssue "6" @default.
• W1488578418 hasLocation W14885784181 @default.
• W1488578418 hasLocation W14885784182 @default.
• W1488578418 hasOpenAccess W1488578418 @default.
• W1488578418 hasPrimaryLocation W14885784181 @default.
• W1488578418 hasRelatedWork W1860290770 @default.
• W1488578418 hasRelatedWork W1970103989 @default.
• W1488578418 hasRelatedWork W1975377180 @default.
• W1488578418 hasRelatedWork W1991523530 @default.
• W1488578418 hasRelatedWork W1999864264 @default.
• W1488578418 hasRelatedWork W2002128513 @default.
• W1488578418 hasRelatedWork W2003703324 @default.
• W1488578418 hasRelatedWork W2006232055 @default.
• W1488578418 hasRelatedWork W2325996668 @default.
• W1488578418 hasRelatedWork W2092874662 @default.

• next