FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2023983968> ?p ?o ?g. }

• W2023983968 endingPage "e50579" @default.
• W2023983968 startingPage "e50579" @default.
• W2023983968 abstract "Dystrophic epidermolysis bullosa is an inherited bullous dermatosis caused by the COL7A1 gene mutation in autosomal dominant or recessive mode. COL7A1 gene encodes type VII collagen – the main component of the anchoring fibrils at the dermal–epidermal junction. Besides the 730 mutations reported, we identified two novel COL7A1 gene mutations in a Chinese family, which caused recessive dystrophic epidermolysis bullosa (RDEB). The diagnosis was established histopathologically and ultrastructurally. After genomic DNA extraction from the peripheral blood sample of all subjects (5 pedigree members and 136 unrelated control individuals), COL7A1 gene screening was performed by polymerase chain reaction amplification and direct DNA sequencing of the whole coding exons and flanking intronic regions. Genetic analysis of the COL7A1 gene in affected individuals revealed compound heterozygotes with identical novel mutations. The maternal mutation is a 2-bp deletion at exon 8 (c.1006_1007delCA), leading to a subsequent reading frame-shift and producing a premature termination codon located 48 amino acids downstream in exon 9 (p.Q336EfsX48), consequently resulting in the truncation of 2561 amino acids downstream. This was only present in two affected brothers, but not in the other unaffected family members. The paternal mutation is a 1-bp deletion occurring at the first base of intron 65 (c.IVS5568+1delG) that deductively changes the strongly conserved GT dinucleotide at the 5′ donor splice site, results in subsequent reading-through into intron 65, and creates a stop codon immediately following the amino acids encoded by exon 65 (GTAA→TAA). This is predicted to produce a truncated protein lacking of 1089 C-terminal amino acids downstream. The latter mutation was found in all family members except one of the two unaffected sisters. Both mutations were observed concurrently only in the two affected brothers. Neither mutation was discovered in 136 unrelated Chinese control individuals. This study reveals novel disease-causing mutations in the COL7A1 gene." @default.
• W2023983968 created "2016-06-24" @default.
• W2023983968 creator A5000238307 @default.
• W2023983968 creator A5011862588 @default.
• W2023983968 creator A5023728872 @default.
• W2023983968 creator A5028182525 @default.
• W2023983968 creator A5051071522 @default.
• W2023983968 creator A5053240397 @default.
• W2023983968 creator A5059225825 @default.
• W2023983968 creator A5061279890 @default.
• W2023983968 creator A5062975800 @default.
• W2023983968 creator A5065021042 @default.
• W2023983968 creator A5065997930 @default.
• W2023983968 creator A5069121438 @default.
• W2023983968 creator A5071037763 @default.
• W2023983968 creator A5080583583 @default.
• W2023983968 date "2012-11-30" @default.
• W2023983968 modified "2023-10-18" @default.
• W2023983968 title "Two Novel Mutations on Exon 8 and Intron 65 of COL7A1 Gene in Two Chinese Brothers Result in Recessive Dystrophic Epidermolysis Bullosa" @default.
• W2023983968 cites W1510176826 @default.
• W2023983968 cites W1646327013 @default.
• W2023983968 cites W1924624520 @default.
• W2023983968 cites W1966305144 @default.
• W2023983968 cites W1968688705 @default.
• W2023983968 cites W1969701087 @default.
• W2023983968 cites W1971099627 @default.
• W2023983968 cites W1978980070 @default.
• W2023983968 cites W1980562556 @default.
• W2023983968 cites W1981238450 @default.
• W2023983968 cites W1988610825 @default.
• W2023983968 cites W1989780033 @default.
• W2023983968 cites W1994286344 @default.
• W2023983968 cites W1998573128 @default.
• W2023983968 cites W2011479893 @default.
• W2023983968 cites W2017286561 @default.
• W2023983968 cites W2021859278 @default.
• W2023983968 cites W2042079025 @default.
• W2023983968 cites W2044804217 @default.
• W2023983968 cites W2050548246 @default.
• W2023983968 cites W2054569402 @default.
• W2023983968 cites W2059032370 @default.
• W2023983968 cites W2059316574 @default.
• W2023983968 cites W2063682991 @default.
• W2023983968 cites W2083915058 @default.
• W2023983968 cites W2091239256 @default.
• W2023983968 cites W2096004943 @default.
• W2023983968 cites W2097044062 @default.
• W2023983968 cites W2115774235 @default.
• W2023983968 cites W2146674419 @default.
• W2023983968 cites W2159638184 @default.
• W2023983968 cites W2161253491 @default.
• W2023983968 cites W2162513673 @default.
• W2023983968 cites W2320590374 @default.
• W2023983968 doi "https://doi.org/10.1371/journal.pone.0050579" @default.
• W2023983968 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3511513" @default.
• W2023983968 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23226319" @default.
• W2023983968 hasPublicationYear "2012" @default.
• W2023983968 type Work @default.
• W2023983968 sameAs 2023983968 @default.
• W2023983968 citedByCount "7" @default.
• W2023983968 countsByYear W20239839682015 @default.
• W2023983968 countsByYear W20239839682016 @default.
• W2023983968 countsByYear W20239839682017 @default.
• W2023983968 countsByYear W20239839682019 @default.
• W2023983968 countsByYear W20239839682020 @default.
• W2023983968 crossrefType "journal-article" @default.
• W2023983968 hasAuthorship W2023983968A5000238307 @default.
• W2023983968 hasAuthorship W2023983968A5011862588 @default.
• W2023983968 hasAuthorship W2023983968A5023728872 @default.
• W2023983968 hasAuthorship W2023983968A5028182525 @default.
• W2023983968 hasAuthorship W2023983968A5051071522 @default.
• W2023983968 hasAuthorship W2023983968A5053240397 @default.
• W2023983968 hasAuthorship W2023983968A5059225825 @default.
• W2023983968 hasAuthorship W2023983968A5061279890 @default.
• W2023983968 hasAuthorship W2023983968A5062975800 @default.
• W2023983968 hasAuthorship W2023983968A5065021042 @default.
• W2023983968 hasAuthorship W2023983968A5065997930 @default.
• W2023983968 hasAuthorship W2023983968A5069121438 @default.
• W2023983968 hasAuthorship W2023983968A5071037763 @default.
• W2023983968 hasAuthorship W2023983968A5080583583 @default.
• W2023983968 hasBestOaLocation W20239839681 @default.
• W2023983968 hasConcept C104317684 @default.
• W2023983968 hasConcept C105702510 @default.
• W2023983968 hasConcept C153911025 @default.
• W2023983968 hasConcept C17757408 @default.
• W2023983968 hasConcept C19218775 @default.
• W2023983968 hasConcept C20580545 @default.
• W2023983968 hasConcept C36823959 @default.
• W2023983968 hasConcept C501734568 @default.
• W2023983968 hasConcept C54355233 @default.
• W2023983968 hasConcept C86803240 @default.
• W2023983968 hasConcept C87555872 @default.
• W2023983968 hasConcept C94671646 @default.
• W2023983968 hasConceptScore W2023983968C104317684 @default.
• W2023983968 hasConceptScore W2023983968C105702510 @default.
• W2023983968 hasConceptScore W2023983968C153911025 @default.
• W2023983968 hasConceptScore W2023983968C17757408 @default.
• W2023983968 hasConceptScore W2023983968C19218775 @default.

• next