Dog as a model in studies on human hereditary diseases and their gene therapy

Shearin, 2010, Leading the way: canine models of genomics and disease, Dis Models Mech, 3, 27, 10.1242/dmm.004358

Ostrander, 2012, Both ends of the leash – the human links to good dogs with bad genes, N Engl J Med, 367, 636, 10.1056/NEJMra1204453

Evans, 1989, Canine hemophilia B resulting from a point mutation with unusual consequences, Proc Natl Acad Sci USA, 86, 10005, 10.1073/pnas.86.24.10095

Slutsky, 2013, A web resource on DNA tests for canine and feline hereditary diseases, Vet J, 197, 182, 10.1016/j.tvjl.2013.02.021

Duan, 2011, Duchenne muscular dystrophy gene therapy: lost in translation?, Res Rep Biol, 2011, 31, 10.2147/RRB.S13463

Sutter, 2007, A single IGF1 allele is a major determinant of small size in dogs, Science, 316, 112, 10.1126/science.1137045

Hoopes, 2012, The insulin-like growth factor 1 receptor (IGF1R) contributes to reduced size in dogs, Mamm Genome, 23, 780, 10.1007/s00335-012-9417-z

Smith, 2008, Canine fibroblast growth factor receptor 3 sequence is conserved across dogs of divergent skeletal size, BMC Genet, 9, 67, 10.1186/1471-2156-9-67

Parker, 2009, An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs, Science, 325, 995, 10.1126/science.1173275

Marini, 2007, Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans, Hum Mutat, 28, 209, 10.1002/humu.20429

Drögemüller, 2009, A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta, PLoS Genet, 5, e1000579, 10.1371/journal.pgen.1000579

Meyers-Wallen, 2012, Gonadal and sex differentiation abnormalities of dogs and cats, Sex Dev, 6, 46, 10.1159/000332740

Cox, 2011, A SOX9 duplication and familial 46,XX developmental testicular disorder, N Engl J Med, 364, 91, 10.1056/NEJMc1010311

Pailhoux, 2001, Vaiman D. A 11.7-kb deletion triggers intersexuality and polledness in goats, Nat Genet, 29, 453, 10.1038/ng769

Switonski, 2011, Robertsonian translocation in a sex-reversal dog (XX, SRY-negative) may indicate that the causative mutation for this intersexuality syndrome resides on the canine chromosome 23 (CFA23), Sex Dev, 5, 141, 10.1159/000324689

Pujar, 2007, Linkage to CFA29 detected in a genome-wide linkage screen of a canine pedigree segregating Sry-negative XX sex reversal, J Hered, 98, 438, 10.1093/jhered/esm028

Wu, 2009, A single base pair mutation encoding a premature stop codon in the MIS type II receptor is responsible for canine persistent Müllerian duct syndrome, J Androl, 30, 46, 10.2164/jandrol.108.005736

Paoloni, 2007, Comparative oncology today. Veterinary Clinics of North America, Small Anim Pract, 37, 1023, 10.1016/j.cvsm.2007.08.003

Lingaas, 2003, A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog, Hum Mol Genet, 12, 3043, 10.1093/hmg/ddg336

Toro, 2008, BHD mutations, clinical and molecular genetic investigations of Birt–Hogg–Dubé syndrome: a new series of 50 families and a review of published reports, J Med Genet, 45, 321, 10.1136/jmg.2007.054304

Shearin, 2012, The MTAP-CDKN2A locus confers susceptibility to a naturally occurring canine cancer, Cancer Epidemiol Biomarkers Prev, 21, 1019, 10.1158/1055-9965.EPI-12-0190-T

Loos, 2012, Genetic determinants of common obesity and their value in prediction, Best Pract Res Clin Endocrinol Metab, 26, 211, 10.1016/j.beem.2011.11.003

Courcier, 2010, An epidemiological study of environmental factors associated with canine obesity, J Small Anim Pract, 51, 362, 10.1111/j.1748-5827.2010.00933.x

Rand, 2004, Canine and feline diabetes mellitus: nature or nurture?, J Nutr, 134, S2072, 10.1093/jn/134.8.2072S

Hayes, 1986, Hospital incidence of hypospadias in dogs in North America, Vet Rec, 118, 605, 10.1136/vr.118.22.605

Switonski, 2012, Hypospadias in a male (78,XY; SRY-positive) dog and sex reversal female (78, XX; SRY-negative) dogs: clinical, histological and genetic studies, Sex Dev, 6, 128, 10.1159/000330921

Ginn, 2013, Gene therapy clinical trials worldwide to 2012 – an update, J Gene Med, 15, 65, 10.1002/jgm.2698

Acland, 2001, Gene therapy restores vision in a canine model of childhood blindness, Nat Genet, 28, 92, 10.1038/ng0501-92

Acland, 2005, Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness, Mol Ther, 12, 1072, 10.1016/j.ymthe.2005.08.008

Hufnagel, 2012, Gene therapy for Leber congenital amaurosis: advances and future directions, Graefes Arch Clin Exp Ophthalmol, 250, 1117, 10.1007/s00417-012-2028-2

Muenzer, 2011, Overview of the mucopolysaccharidoses, Rheumatology (Oxford), 50, v4, 10.1093/rheumatology/ker394

Ponder, 2002, Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs, Proc Natl Acad Sci USA, 99, 13102, 10.1073/pnas.192353499

Xing, 2013, The effect of neonatal gene therapy on skeletal manifestations in mucopolysaccharidosis VII dogs after a decade, Mol Genet Metab, 109, 183, 10.1016/j.ymgme.2013.03.013

Ellinwood, 2011, Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes, Mol Ther, 19, 251, 10.1038/mt.2010.265

Haurigot, 2013, Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy, J Clin Invest, 123, 3254, 10.1172/JCI66778

Konieczny, 2013, Gene and cell-mediated therapies for muscular dystrophy, Muscle Nerve, 47, 649, 10.1002/mus.23738

Mizukami, 2011, Novel rapid genotyping assays for neuronal ceroid lipofuscinosis in Border Collie dogs and high frequency of the mutant allele in Japan, J Vet Diagn Invest, 23, 1131, 10.1177/1040638711425590

Abitbol, 2010, A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis, Proc Natl Acad Sci USA, 107, 14775, 10.1073/pnas.0914206107

Haskins, 2007, Animal models for mucopolysaccharidosis disorders and their clinical relevance, Acta Paediatr Suppl, 96, 56, 10.1111/j.1651-2227.2007.00211.x

Hytönen, 2012, A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VII, PLoS ONE, 7, e40281, 10.1371/journal.pone.0040281

Jolly, 2012, Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene, N Z Vet J, 60, 183, 10.1080/00480169.2011.642791