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8 papers found.
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A Simple Repeat Polymorphism in the MITF-M Promoter Is a Key Regulator of White Spotting in Dogs

The white spotting locus (S) in dogs is colocalized with the MITF (microphtalmia-associated transcription factor) gene. The phenotypic effects of the four S alleles range from solid colour (S) to extreme white spotting (sw). We have investigated four candidate mutations associated with the sw allele, a SINE insertion, a SNP at a conserved site and a simple repeat polymorphism all...

Candidate genes and functional noncoding variants identified in a canine model of obsessive-compulsive disorder

Background Obsessive-compulsive disorder (OCD), a severe mental disease manifested in time-consuming repetition of behaviors, affects 1 to 3% of the human population. While highly heritable, complex genetics has hampered attempts to elucidate OCD etiology. Dogs suffer from naturally occurring compulsive disorders that closely model human OCD, manifested as an excessive repetition...

Genome-wide Association Study Identifies Shared Risk Loci Common to Two Malignancies in Golden Retrievers

Dogs, with their breed-determined limited genetic background, are great models of human disease including cancer. Canine B-cell lymphoma and hemangiosarcoma are both malignancies of the hematologic system that are clinically and histologically similar to human B-cell non-Hodgkin lymphoma and angiosarcoma, respectively. Golden retrievers in the US show significantly elevated...

Genome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/B

Karlsson et al. Genome Biology Elinor K Karlsson 7 8 Snaevar Sigurdsson 6 8 Emma Ivansson 6 8 Rachael Thomas 13 Ingegerd Elvers 6 8 Jason Wright 8 Cedric Howald 8 Noriko Tonomura 8 12 Michele

LGI2 Truncation Causes a Remitting Focal Epilepsy in Dogs

Matthew T. Webster Elinor K. Karlsson Sami K. Kilpinen Frank Steffen Elisabeth Dietschi Tosso Leeb Ranja Eklund Xiaochu Zhao Jennifer J. Rilstone Kerstin Lindblad-Toh Berge A. Minassian Hannes Lohi

Identification of Genomic Regions Associated with Phenotypic Variation between Dog Breeds using Selection Mapping

Sigurdsson Tove Fall Eija H. Seppa la Mark S. T. Hansen Cindy T. Lawley Elinor K. Karlsson The LUPA Consortium Danika Bannasch Carles Vila` Hannes Lohi Francis Galibert Merete Fredholm Jens Ha ggstro m A ke

A Novel Unstable Duplication Upstream of HAS2 Predisposes to a Breed-Defining Skin Phenotype and a Periodic Fever Syndrome in Chinese Shar-Pei Dogs

. Meadows Katarina Truve Gerli Rosengren Pielberg Francesca Puppo Evan Mauceli Javier Quilez Noriko Tonomura Giordana Zanna Maria Jose Docampo Anna Bassols Anne C. Avery Elinor K. Karlsson Anne Thomas Daniel

Identification and Functional Validation of the Novel Antimalarial Resistance Locus PF10_0355 in Plasmodium falciparum

The Plasmodium falciparum parasite's ability to adapt to environmental pressures, such as the human immune system and antimalarial drugs, makes malaria an enduring burden to public health. Understanding the genetic basis of these adaptations is critical to intervening successfully against malaria. To that end, we created a high-density genotyping array that assays over 17,000...