Matches in SemOpenAlex for { <https://semopenalex.org/work/W2110367358> ?p ?o ?g. }
- W2110367358 endingPage "883" @default.
- W2110367358 startingPage "876" @default.
- W2110367358 abstract "We report a French pedigree with members having an inherited combination of non-epidermolytic palmoplantar keratoderma (NEPPK) and sensorineural deafness. The penetrance of both features was incomplete. Additional ectodermal defects were absent. The expression of numerous epidermal proteins (keratins, fillagrin, cornified envelope proteins, intercellular junction proteins including connexin 26, and loricrin) defined with immunolabelling was normal in the proband. The combination was shown to be associated with the A7445G point mutation in the mitochondrial genome (mtDNA). This mutation is responsible for a subtype of NEPPK which is so far the only mtDNA mutation-associated keratoderma." @default.
- W2110367358 created "2016-06-24" @default.
- W2110367358 creator A5023844947 @default.
- W2110367358 creator A5028067968 @default.
- W2110367358 creator A5039906741 @default.
- W2110367358 creator A5050966570 @default.
- W2110367358 creator A5053509491 @default.
- W2110367358 creator A5060903010 @default.
- W2110367358 creator A5067050178 @default.
- W2110367358 creator A5067731916 @default.
- W2110367358 creator A5070506825 @default.
- W2110367358 creator A5082890061 @default.
- W2110367358 date "2000-10-01" @default.
- W2110367358 modified "2023-10-12" @default.
- W2110367358 title "Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome" @default.
- W2110367358 cites W1978406614 @default.
- W2110367358 cites W1991259792 @default.
- W2110367358 cites W1996240512 @default.
- W2110367358 cites W2000610554 @default.
- W2110367358 cites W2003265721 @default.
- W2110367358 cites W2011059247 @default.
- W2110367358 cites W2017347785 @default.
- W2110367358 cites W2021708029 @default.
- W2110367358 cites W2023931404 @default.
- W2110367358 cites W2027630408 @default.
- W2110367358 cites W2030755291 @default.
- W2110367358 cites W2030985946 @default.
- W2110367358 cites W2036110675 @default.
- W2110367358 cites W2038734979 @default.
- W2110367358 cites W2039212422 @default.
- W2110367358 cites W2040570413 @default.
- W2110367358 cites W2043036620 @default.
- W2110367358 cites W2047915012 @default.
- W2110367358 cites W2058227176 @default.
- W2110367358 cites W2063229356 @default.
- W2110367358 cites W2067977519 @default.
- W2110367358 cites W2071061680 @default.
- W2110367358 cites W2077414996 @default.
- W2110367358 cites W2084035752 @default.
- W2110367358 cites W2090936367 @default.
- W2110367358 cites W2094569431 @default.
- W2110367358 cites W2102948261 @default.
- W2110367358 cites W2102957844 @default.
- W2110367358 cites W2111882152 @default.
- W2110367358 cites W2116686526 @default.
- W2110367358 cites W2128747184 @default.
- W2110367358 cites W2158705833 @default.
- W2110367358 cites W2158981460 @default.
- W2110367358 cites W2336578011 @default.
- W2110367358 cites W4239032529 @default.
- W2110367358 cites W4240134249 @default.
- W2110367358 cites W4254635223 @default.
- W2110367358 cites W4256072957 @default.
- W2110367358 cites W4323966381 @default.
- W2110367358 doi "https://doi.org/10.1046/j.1365-2133.2000.03797.x" @default.
- W2110367358 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11069477" @default.
- W2110367358 hasPublicationYear "2000" @default.
- W2110367358 type Work @default.
- W2110367358 sameAs 2110367358 @default.
- W2110367358 citedByCount "38" @default.
- W2110367358 countsByYear W21103673582012 @default.
- W2110367358 countsByYear W21103673582013 @default.
- W2110367358 countsByYear W21103673582014 @default.
- W2110367358 countsByYear W21103673582015 @default.
- W2110367358 countsByYear W21103673582016 @default.
- W2110367358 countsByYear W21103673582018 @default.
- W2110367358 countsByYear W21103673582019 @default.
- W2110367358 countsByYear W21103673582020 @default.
- W2110367358 countsByYear W21103673582021 @default.
- W2110367358 countsByYear W21103673582022 @default.
- W2110367358 countsByYear W21103673582023 @default.
- W2110367358 crossrefType "journal-article" @default.
- W2110367358 hasAuthorship W2110367358A5023844947 @default.
- W2110367358 hasAuthorship W2110367358A5028067968 @default.
- W2110367358 hasAuthorship W2110367358A5039906741 @default.
- W2110367358 hasAuthorship W2110367358A5050966570 @default.
- W2110367358 hasAuthorship W2110367358A5053509491 @default.
- W2110367358 hasAuthorship W2110367358A5060903010 @default.
- W2110367358 hasAuthorship W2110367358A5067050178 @default.
- W2110367358 hasAuthorship W2110367358A5067731916 @default.
- W2110367358 hasAuthorship W2110367358A5070506825 @default.
- W2110367358 hasAuthorship W2110367358A5082890061 @default.
- W2110367358 hasConcept C104317684 @default.
- W2110367358 hasConcept C127716648 @default.
- W2110367358 hasConcept C176944494 @default.
- W2110367358 hasConcept C181561989 @default.
- W2110367358 hasConcept C188997412 @default.
- W2110367358 hasConcept C200544954 @default.
- W2110367358 hasConcept C24586158 @default.
- W2110367358 hasConcept C2778951404 @default.
- W2110367358 hasConcept C2779335771 @default.
- W2110367358 hasConcept C2779915019 @default.
- W2110367358 hasConcept C2780493683 @default.
- W2110367358 hasConcept C2908838009 @default.
- W2110367358 hasConcept C501734568 @default.
- W2110367358 hasConcept C54355233 @default.
- W2110367358 hasConcept C548259974 @default.
- W2110367358 hasConcept C71924100 @default.