An Intronic SINE insertion in FAM161A that causes exon-skipping is associated with progressive retinal atrophy in Tibetan Spaniels and Tibetan Terriers.

by Louise M Downs, Cathryn S Mellersh
Published 2014-01-01

Missense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed.

by Oliver P Forman, Luisa De Risio, Cathryn S Mellersh
Published 2013-01-01

Correction: Two Independent Mutations in ADAMTS17 Are Associated with Primary Open Angle Glaucoma in the Basset Hound and Basset Fauve de Bretagne Breeds of Dog.

by James A C Oliver, Oliver P Forman, Louise Pettitt, Cathryn S Mellersh
Published 2016-01-01

Two Independent Mutations in ADAMTS17 Are Associated with Primary Open Angle Glaucoma in the Basset Hound and Basset Fauve de Bretagne Breeds of Dog.

by James A C Oliver, Oliver P Forman, Louise Pettitt, Cathryn S Mellersh
Published 2015-01-01

Primary closed angle glaucoma in the Basset Hound: Genetic investigations using genome-wide association and RNA sequencing strategies

by James A.C. Oliver, Sally L. Ricketts, Markus H. Kuehn, Cathryn S. Mellersh
Published 2019-02-01

Multiple mechanisms contribute to leakiness of a frameshift mutation in canine cone-rod dystrophy.

by Keiko Miyadera, Ian Brierley, Jesús Aguirre-Hernández, Cathryn S Mellersh, David R Sargan
Published 2012-01-01

Glaucoma-causing ADAMTS17 mutations are also reproducibly associated with height in two domestic dog breeds: selection for short stature may have contributed to increased prevalenc...

by Emily C. Jeanes, James A. C. Oliver, Sally L. Ricketts, David J. Gould, Cathryn S. Mellersh
Published 2019-05-01

Parallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breed.

by Oliver P Forman, Jacques Penderis, Claudia Hartley, Louisa J Hayward, Sally L Ricketts, Cathryn S Mellersh
Published 2012-01-01

Genome-wide association study identifies a novel canine glaucoma locus.

by Saija J Ahonen, Elina Pietilä, Cathryn S Mellersh, Katriina Tiira, Liz Hansen, Gary S Johnson, Hannes Lohi
Published 2013-01-01

A mutation in the myostatin gene increases muscle mass and enhances racing performance in heterozygote dogs.

by Dana S Mosher, Pascale Quignon, Carlos D Bustamante, Nathan B Sutter, Cathryn S Mellersh, Heidi G Parker, Elaine A Ostrander
Published 2007-05-01

DNA Sequence Variants in the Five Prime Untranslated Region of the Cyclooxygenase-2 Gene Are Commonly Found in Healthy Dogs and Gray Wolves.

by Noa Safra, Louisa J Hayward, Miriam Aguilar, Benjamin N Sacks, Jodi L Westropp, F Charles Mohr, Cathryn S Mellersh, Danika L Bannasch
Published 2015-01-01

Correction: DNA Sequence Variants in the Five Prime Untranslated Region of the Cyclooxygenase-2 Gene Are Commonly Found in Healthy Dogs and Gray Wolves.

by Noa Safra, Louisa J Hayward, Miriam Aguilar, Benjamin N Sacks, Jodi L Westropp, F Charles Mohr, Cathryn S Mellersh, Danika L Bannasch
Published 2018-01-01

A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations.

by Louise M Downs, Berit Wallin-Håkansson, Mike Boursnell, Stefan Marklund, Åke Hedhammar, Katarina Truvé, Louise Hübinette, Kerstin Lindblad-Toh, Tomas Bergström, Cathryn S Mellersh
Published 2011-01-01

Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs.

by Christopher A Jenkins, Lajos Kalmar, Kaspar Matiasek, Lorenzo Mari, Kaisa Kyöstilä, Hannes Lohi, Ellen C Schofield, Cathryn S Mellersh, Luisa De Risio, Sally L Ricketts
Published 2020-01-01

A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs

by Rebekkah J. Hitti-Malin, Louise M. Burmeister, Sally L. Ricketts, Thomas W. Lewis, Louise Pettitt, Mike Boursnell, Ellen C. Schofield, David Sargan, Cathryn S. Mellersh
Published 2020-09-01

Clinical, histopathological and genetic characterisation of oculoskeletal dysplasia in the Northern Inuit Dog.

by Renata Stavinohova, Claudia Hartley, Louise M Burmeister, Sally L Ricketts, Louise Pettitt, Roser Tetas Pont, Rebekkah J Hitti, Ellen Schofield, James A C Oliver, Cathryn S Mellersh
Published 2019-01-01

Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes <i>NECAP1</i> as a Novel Candidate Gene for Retinal Degeneration

by Rebekkah J. Hitti, James A. C. Oliver, Ellen C. Schofield, Anina Bauer, Maria Kaukonen, Oliver P. Forman, Tosso Leeb, Hannes Lohi, Louise M. Burmeister, David Sargan, Cathryn S. Mellersh
Published 2019-05-01

An intronic LINE-1 insertion in MERTK is strongly associated with retinopathy in Swedish Vallhund dogs.

by Richard Everson, Louise Pettitt, Oliver P Forman, Olivia Dower-Tylee, Bryan McLaughlin, Saija Ahonen, Maria Kaukonen, András M Komáromy, Hannes Lohi, Cathryn S Mellersh, Jane Sansom, Sally L Ricketts
Published 2017-01-01