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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.
A heterozygous frameshift variant, c.718_722delGAACA, was identified in the affected dog. In lesional skin, the vast majority of NSDHL transcripts lacked the five deleted bases. ...The mutant allele was absent from 22 additionally genotyped Chihuahuas, as well as fr …
A heterozygous frameshift variant, c.718_722delGAACA, was identified in the affected dog. In lesional skin, the vast majority of N
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
The mutant allele was absent from WGS data of 594 genetically diverse dogs and eight wolves. Sanger sequencing confirmed that the variant was heterozygous in the affected dog and absent from 22 control Chihuahuas. Based on the knowledge about the functional impact o …
The mutant allele was absent from WGS data of 594 genetically diverse dogs and eight wolves. Sanger sequencing confirmed that the var …
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 …