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A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.
Abitbol M, Thibaud JL, Olby NJ, Hitte C, Puech JP, Maurer M, Pilot-Storck F, Hédan B, Dréano S, Brahimi S, Delattre D, André C, Gray F, Delisle F, Caillaud C, Bernex F, Panthier JJ, Aubin-Houzelstein G, Blot S, Tiret L. Abitbol M, et al. Among authors: hitte c. Proc Natl Acad Sci U S A. 2010 Aug 17;107(33):14775-80. doi: 10.1073/pnas.0914206107. Epub 2010 Aug 2. Proc Natl Acad Sci U S A. 2010. PMID: 20679209 Free PMC article.
Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide.
Maurer M, Mary J, Guillaud L, Fender M, Pelé M, Bilzer T, Olby N, Penderis J, Shelton GD, Panthier JJ, Thibaud JL, Barthélémy I, Aubin-Houzelstein G, Blot S, Hitte C, Tiret L. Maurer M, et al. Among authors: hitte c. PLoS One. 2012;7(10):e46408. doi: 10.1371/journal.pone.0046408. Epub 2012 Oct 5. PLoS One. 2012. PMID: 23071563 Free PMC article.
Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping.
Vaysse A, Ratnakumar A, Derrien T, Axelsson E, Rosengren Pielberg G, Sigurdsson S, Fall T, Seppälä EH, Hansen MS, Lawley CT, Karlsson EK; LUPA Consortium; Bannasch D, Vilà C, Lohi H, Galibert F, Fredholm M, Häggström J, Hedhammar A, André C, Lindblad-Toh K, Hitte C, Webster MT. Vaysse A, et al. Among authors: hitte c. PLoS Genet. 2011 Oct;7(10):e1002316. doi: 10.1371/journal.pgen.1002316. Epub 2011 Oct 13. PLoS Genet. 2011. PMID: 22022279 Free PMC article.
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.
Grall A, Guaguère 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, Küry S, Bensignor E, Fontaine J, Pin D, Zimmermann R, Zechner R, Lathrop M, Galibert F, André C, Fischer J. Grall A, et al. Among authors: hitte c. Nat Genet. 2012 Jan 15;44(2):140-7. doi: 10.1038/ng.1056. Nat Genet. 2012. PMID: 22246504
A spontaneous KRT16 mutation in a dog breed: a model for human focal non-epidermolytic palmoplantar keratoderma (FNEPPK).
Plassais J, Guaguère E, Lagoutte L, Guillory AS, de Citres CD, Degorce-Rubiales F, Delverdier M, Vaysse A, Quignon P, Bleuart C, Hitte C, Fautrel A, Kaerle C, Bellaud P, Bensignor E, Queney G, Bourrat E, Thomas A, André C. Plassais J, et al. Among authors: hitte c. J Invest Dermatol. 2015 Apr;135(4):1187-1190. doi: 10.1038/jid.2014.526. Epub 2014 Dec 18. J Invest Dermatol. 2015. PMID: 25521457 Free article. No abstract available.
MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.
Beggs AH, Böhm J, Snead E, Kozlowski M, Maurer M, Minor K, Childers MK, Taylor SM, Hitte C, Mickelson JR, Guo LT, Mizisin AP, Buj-Bello A, Tiret L, Laporte J, Shelton GD. Beggs AH, et al. Among authors: hitte c. Proc Natl Acad Sci U S A. 2010 Aug 17;107(33):14697-702. doi: 10.1073/pnas.1003677107. Epub 2010 Aug 3. Proc Natl Acad Sci U S A. 2010. PMID: 20682747 Free PMC article.
A Point Mutation in a lincRNA Upstream of GDNF Is Associated to a Canine Insensitivity to Pain: A Spontaneous Model for Human Sensory Neuropathies.
Plassais J, Lagoutte L, Correard S, Paradis M, Guaguère E, Hédan B, Pommier A, Botherel N, Cadiergues MC, Pilorge P, Silversides D, Bizot M, Samuels M, Arnan C, Johnson R, Hitte C, Salbert G, Méreau A, Quignon P, Derrien T, André C. Plassais J, et al. Among authors: hitte c. PLoS Genet. 2016 Dec 29;12(12):e1006482. doi: 10.1371/journal.pgen.1006482. eCollection 2016 Dec. PLoS Genet. 2016. PMID: 28033318 Free PMC article.
83 results