Heterozygous <i>ASPRV1</i> frameshift variant in a Pembroke Welsh Corgi with ichthyosis-Reference-Cited by-同舟云学术

Heterozygous ASPRV1 frameshift variant in a Pembroke Welsh Corgi with ichthyosis

Published:2024-03-28 Issue:3 Volume:55 Page:490-492
ISSN:0268-9146
Container-title:Animal Genetics
language:en
Short-container-title:Animal Genetics

Author:

Kiener Sarah¹²^ORCID,Åhman Susanne³^ORCID,Cikota Robert⁴^ORCID,Jagannathan Vidhya¹^ORCID,Blatter Sohvi⁵^ORCID,Cvitas Iva⁵^ORCID,Soto Sara⁵^ORCID,Leeb Tosso¹²^ORCID

Affiliation:

1. Institute of Genetics, Vetsuisse Faculty University of Bern Bern Switzerland

2. Dermfocus University of Bern Bern Switzerland

3. VetaDerm Veterinärklinik Lund Sweden

4. VetaDerm Veterinärklinik Kungsbacka Sweden

5. Institute of Animal Pathology, Vetsuisse Faculty University of Bern Bern Switzerland

Funder

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/age.13423

Reference17 articles.

1. A de novo variant in the keratin 1 gene (KRT1) in a Chinese shar-pei dog with severe congenital cornification disorder and non-epidermolytic ichthyosis

2. A de novo variant in the ASPRV1 gene in a dog with ichthyosis

3. Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis

4. NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy

5. A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The human retroviral-like aspartic protease 1 (ASPRV1): From in vitro studies to clinical correlations;Journal of Biological Chemistry;2024-09