Matches in SemOpenAlex for { <https://semopenalex.org/work/W4308178944> ?p ?o ?g. }
Showing items 1 to 89 of
89
with 100 items per page.
- W4308178944 endingPage "822" @default.
- W4308178944 startingPage "817" @default.
- W4308178944 abstract "Abstract Background Most cases of hereditary ichthyoses present with generalized scaling and skin dryness. However, in some cases skin involvement is restricted to particular body regions as in acral lamellar ichthyosis. Objectives We report on the genetic basis of acral ichthyosis in two families presenting with a similar phenotype. Methods Genetic testing was performed by targeted next generation sequencing and whole‐exome sequencing. For identity‐by‐descent analysis, the parents were genotyped and data analysis was performed with the Chromosome Analysis Suite Software. RT‐PCR with RNA extracted from skin samples was used to analyse the effect of variants on splicing. Results Genetic testing identified a few heterozygous variants, but only the variant in KRT2 c.1912 T > C, p.Phe638Leu segregated with the disease and remained the strongest candidate. Pairwise identity‐by‐descent analysis revealed no indication of family relationship. Phenylalanine 638 is the second last amino acid upstream of the termination codon in the tail of K2, and substitution to leucine is predicted as probably damaging. Assessment of the variant is difficult, in part due to the lack of crystal structures of this region. Conclusions Altogether, we show that a type of autosomal dominant acral ichthyosis is most probably caused by an amino acid substitution in the C‐terminus of keratin 2." @default.
- W4308178944 created "2022-11-08" @default.
- W4308178944 creator A5004243149 @default.
- W4308178944 creator A5006364288 @default.
- W4308178944 creator A5009368343 @default.
- W4308178944 creator A5021713485 @default.
- W4308178944 creator A5036724454 @default.
- W4308178944 creator A5038091834 @default.
- W4308178944 creator A5040805189 @default.
- W4308178944 creator A5055667434 @default.
- W4308178944 creator A5065033244 @default.
- W4308178944 creator A5078536341 @default.
- W4308178944 creator A5085479221 @default.
- W4308178944 creator A5088114081 @default.
- W4308178944 date "2022-11-17" @default.
- W4308178944 modified "2023-10-01" @default.
- W4308178944 title "Acral lamellar ichthyosis with amino acid substitution in the C‐terminus of keratin 2" @default.
- W4308178944 cites W1965529776 @default.
- W4308178944 cites W2009521539 @default.
- W4308178944 cites W2012957720 @default.
- W4308178944 cites W2071454845 @default.
- W4308178944 cites W2119155691 @default.
- W4308178944 cites W2120549166 @default.
- W4308178944 cites W2133964523 @default.
- W4308178944 cites W2572718590 @default.
- W4308178944 cites W2774722934 @default.
- W4308178944 cites W2795986011 @default.
- W4308178944 cites W3029661147 @default.
- W4308178944 cites W3217741386 @default.
- W4308178944 cites W4285596394 @default.
- W4308178944 doi "https://doi.org/10.1111/jdv.18719" @default.
- W4308178944 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36331357" @default.
- W4308178944 hasPublicationYear "2022" @default.
- W4308178944 type Work @default.
- W4308178944 citedByCount "0" @default.
- W4308178944 crossrefType "journal-article" @default.
- W4308178944 hasAuthorship W4308178944A5004243149 @default.
- W4308178944 hasAuthorship W4308178944A5006364288 @default.
- W4308178944 hasAuthorship W4308178944A5009368343 @default.
- W4308178944 hasAuthorship W4308178944A5021713485 @default.
- W4308178944 hasAuthorship W4308178944A5036724454 @default.
- W4308178944 hasAuthorship W4308178944A5038091834 @default.
- W4308178944 hasAuthorship W4308178944A5040805189 @default.
- W4308178944 hasAuthorship W4308178944A5055667434 @default.
- W4308178944 hasAuthorship W4308178944A5065033244 @default.
- W4308178944 hasAuthorship W4308178944A5078536341 @default.
- W4308178944 hasAuthorship W4308178944A5085479221 @default.
- W4308178944 hasAuthorship W4308178944A5088114081 @default.
- W4308178944 hasBestOaLocation W43081789441 @default.
- W4308178944 hasConcept C104317684 @default.
- W4308178944 hasConcept C127716648 @default.
- W4308178944 hasConcept C16671776 @default.
- W4308178944 hasConcept C2776292323 @default.
- W4308178944 hasConcept C2779483664 @default.
- W4308178944 hasConcept C54355233 @default.
- W4308178944 hasConcept C71924100 @default.
- W4308178944 hasConcept C81241287 @default.
- W4308178944 hasConcept C86803240 @default.
- W4308178944 hasConceptScore W4308178944C104317684 @default.
- W4308178944 hasConceptScore W4308178944C127716648 @default.
- W4308178944 hasConceptScore W4308178944C16671776 @default.
- W4308178944 hasConceptScore W4308178944C2776292323 @default.
- W4308178944 hasConceptScore W4308178944C2779483664 @default.
- W4308178944 hasConceptScore W4308178944C54355233 @default.
- W4308178944 hasConceptScore W4308178944C71924100 @default.
- W4308178944 hasConceptScore W4308178944C81241287 @default.
- W4308178944 hasConceptScore W4308178944C86803240 @default.
- W4308178944 hasFunder F4320331256 @default.
- W4308178944 hasIssue "4" @default.
- W4308178944 hasLocation W43081789441 @default.
- W4308178944 hasLocation W43081789442 @default.
- W4308178944 hasOpenAccess W4308178944 @default.
- W4308178944 hasPrimaryLocation W43081789441 @default.
- W4308178944 hasRelatedWork W119484914 @default.
- W4308178944 hasRelatedWork W1576934053 @default.
- W4308178944 hasRelatedWork W1996529377 @default.
- W4308178944 hasRelatedWork W2024700946 @default.
- W4308178944 hasRelatedWork W2045471179 @default.
- W4308178944 hasRelatedWork W2401138173 @default.
- W4308178944 hasRelatedWork W2416643282 @default.
- W4308178944 hasRelatedWork W2793174946 @default.
- W4308178944 hasRelatedWork W4313435476 @default.
- W4308178944 hasRelatedWork W95511592 @default.
- W4308178944 hasVolume "37" @default.
- W4308178944 isParatext "false" @default.
- W4308178944 isRetracted "false" @default.
- W4308178944 workType "article" @default.