Matches in SemOpenAlex for { <https://semopenalex.org/work/W2790547116> ?p ?o ?g. }
Showing items 1 to 79 of
79
with 100 items per page.
- W2790547116 endingPage "140" @default.
- W2790547116 startingPage "137" @default.
- W2790547116 abstract "Hereditary nasal parakeratosis (HNPK), described in the Labrador Retriever breed, is a monogenic autosomal recessive disorder that causes crusts and fissures on the nasal planum of otherwise healthy dogs. Our group previously showed that this genodermatosis may be caused by a missense variant located in the SUV39H2 gene encoding a histone 3 lysine 9 methyltransferase, a chromatin modifying enzyme with a potential role in keratinocyte differentiation. In the present study, we investigated a litter of Greyhounds in which six out of eight puppies were affected with parakeratotic lesions restricted to the nasal planum. Clinically and histologically, the lesions were comparable to HNPK in Labrador Retrievers. Whole genome sequencing of one affected Greyhound revealed a 4-bp deletion at the 5'-end of intron 4 of the SUV39H2 gene that was absent in 188 control dog and three wolf genomes. The variant was predicted to disrupt the 5'-splice site with subsequent loss of SUV39H2 function. The six affected puppies were homozygous for the variant, whereas the two non-affected littermates were heterozygous. Genotyping of a larger cohort of Greyhounds revealed that the variant is segregating in the breed and that this breed might benefit from genetic testing to avoid carrier × carrier matings." @default.
- W2790547116 created "2018-03-29" @default.
- W2790547116 creator A5011006647 @default.
- W2790547116 creator A5013599972 @default.
- W2790547116 creator A5016386937 @default.
- W2790547116 creator A5016629174 @default.
- W2790547116 creator A5027612465 @default.
- W2790547116 creator A5029969915 @default.
- W2790547116 creator A5054768478 @default.
- W2790547116 date "2018-02-09" @default.
- W2790547116 modified "2023-09-24" @default.
- W2790547116 title "A splice site variant in the <i>SUV39H2</i> gene in Greyhounds with nasal parakeratosis" @default.
- W2790547116 cites W1972918738 @default.
- W2790547116 cites W1973008943 @default.
- W2790547116 cites W2005630031 @default.
- W2790547116 cites W2033599074 @default.
- W2790547116 cites W2064297857 @default.
- W2790547116 cites W2068158390 @default.
- W2790547116 cites W2081588299 @default.
- W2790547116 cites W2119036640 @default.
- W2790547116 cites W2143658931 @default.
- W2790547116 cites W2161633633 @default.
- W2790547116 cites W2166069190 @default.
- W2790547116 cites W2169669582 @default.
- W2790547116 cites W2592103280 @default.
- W2790547116 cites W4247292500 @default.
- W2790547116 doi "https://doi.org/10.1111/age.12643" @default.
- W2790547116 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29423952" @default.
- W2790547116 hasPublicationYear "2018" @default.
- W2790547116 type Work @default.
- W2790547116 sameAs 2790547116 @default.
- W2790547116 citedByCount "7" @default.
- W2790547116 countsByYear W27905471162019 @default.
- W2790547116 countsByYear W27905471162020 @default.
- W2790547116 countsByYear W27905471162021 @default.
- W2790547116 countsByYear W27905471162022 @default.
- W2790547116 crossrefType "journal-article" @default.
- W2790547116 hasAuthorship W2790547116A5011006647 @default.
- W2790547116 hasAuthorship W2790547116A5013599972 @default.
- W2790547116 hasAuthorship W2790547116A5016386937 @default.
- W2790547116 hasAuthorship W2790547116A5016629174 @default.
- W2790547116 hasAuthorship W2790547116A5027612465 @default.
- W2790547116 hasAuthorship W2790547116A5029969915 @default.
- W2790547116 hasAuthorship W2790547116A5054768478 @default.
- W2790547116 hasConcept C104317684 @default.
- W2790547116 hasConcept C105702510 @default.
- W2790547116 hasConcept C2776482104 @default.
- W2790547116 hasConcept C2779664670 @default.
- W2790547116 hasConcept C54355233 @default.
- W2790547116 hasConcept C86803240 @default.
- W2790547116 hasConceptScore W2790547116C104317684 @default.
- W2790547116 hasConceptScore W2790547116C105702510 @default.
- W2790547116 hasConceptScore W2790547116C2776482104 @default.
- W2790547116 hasConceptScore W2790547116C2779664670 @default.
- W2790547116 hasConceptScore W2790547116C54355233 @default.
- W2790547116 hasConceptScore W2790547116C86803240 @default.
- W2790547116 hasFunder F4320320924 @default.
- W2790547116 hasIssue "2" @default.
- W2790547116 hasLocation W27905471161 @default.
- W2790547116 hasLocation W27905471162 @default.
- W2790547116 hasOpenAccess W2790547116 @default.
- W2790547116 hasPrimaryLocation W27905471161 @default.
- W2790547116 hasRelatedWork W1828691184 @default.
- W2790547116 hasRelatedWork W1991523530 @default.
- W2790547116 hasRelatedWork W2002128513 @default.
- W2790547116 hasRelatedWork W2009966535 @default.
- W2790547116 hasRelatedWork W2020824267 @default.
- W2790547116 hasRelatedWork W2031436818 @default.
- W2790547116 hasRelatedWork W2075354549 @default.
- W2790547116 hasRelatedWork W2120393042 @default.
- W2790547116 hasRelatedWork W2171277769 @default.
- W2790547116 hasRelatedWork W2092874662 @default.
- W2790547116 hasVolume "49" @default.
- W2790547116 isParatext "false" @default.
- W2790547116 isRetracted "false" @default.
- W2790547116 magId "2790547116" @default.
- W2790547116 workType "article" @default.