Dermatol. Results: Background. 2015 Jul;79(1):4-9. doi: 10.1016/j.jdermsci.2015.04.009. Efficient mapping of mendelian traits in dogs through genome-wide association. 161, 265272 (2009). official website and that any information you provide is encrypted Parents, offspring and relatives should also be tested. Provided by the Springer Nature SharedIt content-sharing initiative, Nature Genetics (Nat Genet) There are two forms of Ichthyosis in the Golden Retriever. Variant in PNPLA3 is associated with alcoholic liver disease. Chem. Keywords: Biophys. The condition often progresses to large patches of thickened, black, scaly skin. Heterozygous Carriers (1-2) are not expected to develop signs of Ichthyosis (ICH-2) but each of their offspring has a chance of inheriting a disease variant allele. Laiho, E. et al. et al. J. Hum. A skin biopsy is needed to definitely diagnose the condition, as it can be difficult to distinguish ichthyosis from many other skin diseases. This study identifies a new gene involved in human ichthyoses and provides insights into the localization and function of this yet uncharacterized member of the PNPLA protein family. 2009 Aug 21;325(5943):995-8 sharing sensitive information, make sure youre on a federal This test panel is useful to breeders who wish to track and increase genetic diversity of their breed as a long term goal. John Wiley & Sons Ltd, 2013. 129, 13191321 (2009). Two genetic variants have been associated with congenital ichthyosis in the Golden Retriever. 50 (suppl. 2010;26:177184. Dermatol. Milder forms are manageable with baths and mineral oil. Lefvre, C. et al. Br. doi: 10.1111/vde.12323. 2012 Jan 15;44(2):140-7. doi: 10.1038/ng.1056. The authors declare no conflict of interest. Genetic variance in the adiponutrin gene family and childhood obesity. The condition often progresses to large patches of thickened, black, scaly skin. J. -, J Lipid Res. Nat. Andr C, Grall A, Guaguere , Thomas A, Galibert F. Bull Acad Natl Med. 1 = Normal allele; 2 = Variant allele. Eur. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Genet. All rights reserved. Med. -, Baulande S., Langlois C. Proteins sharing PNPLA domain, a new family of enzymes regulating lipid metabolism. This study identifies a new gene involved in human ichthyoses and provides insights into the localization and function of this yet uncharacterized member of the PNPLA protein family. and transmitted securely. Vignon-Pennamen from the anatomopathology laboratory of Saint Louis Hospital (Paris, France) and M. Werner from the Institute of Pathology at the University Hospital of Freiburg (Freiburg, Germany) who kindly provided paraffin human skin sections, as well as the Vbiotel laboratory (Arcueil, France) for dog sample biochemical analyses. -, Mauldin E.A., Credille K., Dunstan R.W., Casal M.L. Guaguere, E., Bensignor, E., Muller, A., Degorce-Rubiales, F. & Andre, C. Epidemiological, clinical, histopathological and ultrastructural aspects of ichthyosis in golden retrievers: a report of 50 cases. government site. 2015 Jul;79(1):4-9. doi: 10.1016/j.jdermsci.2015.04.009. Online ahead of print. 2009;50:227235. 67, 148 (2010). Metabolites. This site needs JavaScript to work properly. 18, 187 (2007). J Small Anim Pract. There are two forms of Ichthyosis in the Golden Retriever. Slot, J.W. Care for cats, dogs & other companion animals, Related Terms: ARCI, Autosomal Recessive Congenital Ichthyosis, GR ICH2, Sample Types: Cheek brushes/swabs or Fresh EDTA blood, View Sample Collection and Shipping Instructions.
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