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NSDHL Frameshift Deletion in a Mixed Breed Dog with Progressive Epidermal Nevi.
Christen M, Austel M, Banovic F, Jagannathan V, Leeb T. Christen M, et al. Genes (Basel). 2020 Oct 30;11(11):1297. doi: 10.3390/genes11111297. Genes (Basel). 2020. PMID: 33143176 Free PMC article.
In this study, a female Chihuahua cross with a clinical and histological phenotype consistent with progressive epidermal nevi is presented. All exons of the NSDHL candidate gene were amplified by PCR and analyzed by Sanger sequencing. A heterozygous frameshift variant, c.7 …
In this study, a female Chihuahua cross with a clinical and histological phenotype consistent with progressive epidermal nevi is presented. …
A missense variant in the NSDHL gene in a Chihuahua with a congenital cornification disorder resembling inflammatory linear verrucous epidermal nevi.
Leuthard F, Lehner G, Jagannathan V, Leeb T, Welle M. Leuthard F, et al. Anim Genet. 2019 Dec;50(6):768-771. doi: 10.1111/age.12862. Epub 2019 Oct 1. Anim Genet. 2019. PMID: 31571289
This analysis revealed a single missense variant in the NSDHL gene in the affected dog (XM_014111859.2:c.700G>A). The variant is predicted to cause a non-conservative amino acid change from glycine to arginine, XP_013967334.1:p....The mutant allele was absent fro …
This analysis revealed a single missense variant in the NSDHL gene in the affected dog (XM_014111859.2:c.700G>A). The varia …
A Large Deletion in the NSDHL Gene in Labrador Retrievers with a Congenital Cornification Disorder.
Bauer A, De Lucia M, Jagannathan V, Mezzalira G, Casal ML, Welle MM, Leeb T. Bauer A, et al. G3 (Bethesda). 2017 Sep 7;7(9):3115-3121. doi: 10.1534/g3.117.1124. G3 (Bethesda). 2017. PMID: 28739597 Free PMC article.
The deletion spanned >14 kb, and included the last three exons of the NSDHL gene. By PCR and fragment length analysis, we confirmed the presence of the variant in both affected dogs, and its absence in 50 control Labrador Retrievers. ...Taken together, our geneti …
The deletion spanned >14 kb, and included the last three exons of the NSDHL gene. By PCR and fragment length analysis, we confirme …