There are two forms of Ichthyosis in the Golden Retriever. Tan, E.K., Ho, P., Tan, L., Prakash, K.M. Guaguere E, Bensignor E, Kry S, Degorce-Rubiales F, Muller A, Herbin L, Fontaine J, Andr C. Clinical, histopathological and genetic data of ichthyosis in the golden retriever: a prospective study. Genet. PubMedGoogle Scholar. More than one form of PRA affects Golden Retrievers, and causal mutations in three distinct genes have been identified; two of those mutations lead to PRA1 and PRA2. R. Zechner and R. Zimmermann were supported by the FWF F30 SFB Lipotox, Z136 Wittgenstein, the GEN-AU project GOLD by the Austrian Ministry of Science and Research and FFG. The .gov means its official. J. Lipid Res. Please enable it to take advantage of the complete set of features! HHS Vulnerability Disclosure, Help An official website of the United States government. C.A., E.G. We thank A.S. Lequarr, an excellent coordinator for the European FP7 LUPA project, A. Boland and D. Zelenika for the genotyping performed at CNG (Evry, France); dermatologists, especially F. Caux, and Gnthon, for patient DNA processing; J. Abadie (AMaROC research unit, Oniris, Ecole Nationale Vtrinaire de Nantes, France) and practitioners T. Bord, X. Langon, P. Prelaud, M.D. 2008;45:174180. -, Baulande S., Langlois C. Proteins sharing PNPLA domain, a new family of enzymes regulating lipid metabolism. A.T. provided 400 dog DNA samples and performed validation of the mutation in dogs. -, Guaguere E., Bensignor E., Kry S., Mller A., Herbin L., Fontaine J., Andre C., Degorce-Rubiales F. Clinical, histopathological and genetic data of ichthyosis in the golden retriever: A prospective study. S.G., F.P.W.R., R. Zimmermann and R. Zechner performed functional studies E.G., E. Bensignor, J. Fontaine and D.P., veterinarians specializing in dermatology, collected dog samples and interpreted clinical and biological data. The defects arise in the formation step of keratin formation (i.e. Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome. et al. Biochim. Laiho, E. et al. Is "milk crust" a transient form of golden retriever ichthyosis? Guaguere E, Bensignor E, Kry S, Degorce-Rubiales F, Muller A, Herbin L, Fontaine J, Andr C. Clinical, histopathological and genetic data of ichthyosis in the golden retriever: a prospective study. A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle, Description of breed ancestry and genetic health traits in arctic sled dog breeds, Whole genome sequencing for the investigation of canine mammary tumor inheritance - an initial assessment of high-risk breast cancer genes reveal BRCA2 and STK11 variants potentially associated with risk in purebred dogs, Lipolysis: cellular mechanisms for lipid mobilization from fat stores, Cancel Disclaimer. 67, 148 (2010). Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorze 2009. Grall A, Guagure E, Planchais S, Grond S, Bourrat E, Hausser I, Hitte C, Le Gallo M, Derbois C, Kim GJ, Lagoutte L, Degorce-Rubiales F, Radner FP, Thomas A, Kry S, Bensignor E, Fontaine J, Pin D, Zimmermann R, Zechner R, Lathrop M, Galibert F, Andr C, Fischer J. Nat Genet. Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study. In 20% of the dogs, scaling was no longer observed after the first 30 days of treatment. Affected skin is rough and covered with thick, greasy flakes that stick to the hair. 17, 373382 (2008). E. Bourrat provided patient material and data. Br. Vet. 47, 19401949 (2006). Would you like email updates of new search results? An official website of the United States government. Care for cats, dogs & other companion animals, Related Terms: ARCI, Autosomal Recessive Congenital Ichthyosis, GR ICH1, ICH-A, Ichthyosis-A, ICT-A, PNPLA1, Sample Types: Cheek brushes/swabs or Fresh EDTA blood, View Sample Collection and Shipping Instructions.
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