Search Results - "O’Brien, Dennis P." :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Bottlenecks and selective sweeps during domestication have increased deleterious genetic variation in dogs

Bottlenecks and selective sweeps during domestication have increased deleterious genetic variation in dogs

by Marsden, Clare D., Vecchyo, Diego Ortega-Del, O’Brien, Dennis P., Taylor, Jeremy F., Ramirez, Oscar, Vilà, Carles, Marques-Bonet, Tomas, Schnabel, Robert D., Wayne, Robert K., Lohmueller, Kirk E.
Published in Proceedings of the National Academy of Sciences - PNAS (05.01.2016)

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International veterinary canine dyskinesia task force ECVN consensus statement: Terminology and classification

International veterinary canine dyskinesia task force ECVN consensus statement: Terminology and classification

by Cerda‐Gonzalez, Sofia, Packer, Rebecca A., Garosi, Laurent, Lowrie, Mark, Mandigers, Paul J. J., O'Brien, Dennis P., Volk, Holger A.
Published in Journal of veterinary internal medicine (01.05.2021)

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Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon in CLN6

Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon in CLN6

by Katz, Martin L, Buckley, Reuben M, Biegen, Vanessa, O'Brien, Dennis P, Johnson, Gayle C, Warren, Wesley C, Lyons, Leslie A
Published in G3 : genes - genomes - genetics (01.08.2020)

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A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs

A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs

by Villani, Natalie A., Bullock, Garrett, Michaels, Jennifer R., Yamato, Osamu, O'Brien, Dennis P., Mhlanga-Mutangadura, Tendai, Johnson, Gary S., Katz, Martin L.
Published in Molecular genetics and metabolism (01.05.2019)

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Novel Homozygous ADAMTS2 Variants and Associated Disease Phenotypes in Dogs with Dermatosparactic Ehlers-Danlos Syndrome

Novel Homozygous ADAMTS2 Variants and Associated Disease Phenotypes in Dogs with Dermatosparactic Ehlers-Danlos Syndrome

by Jaffey, Jared A, Bullock, Garrett, Guo, Juyuan, Mhlanga-Mutangadura, Tendai, O'Brien, Dennis P, Coates, Joan R, Morrissey, Rochelle, Hutchison, Robert, Donnelly, Kevin S, Cohn, Leah A, Katz, Martin L, Johnson, Gary S
Published in Genes (19.11.2022)

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A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers

by Farias, Fabiana H.G, Zeng, Rong, Johnson, Gary S, Wininger, Fred A, Taylor, Jeremy F, Schnabel, Robert D, McKay, Stephanie D, Sanders, Douglas N, Lohi, Hannes, Seppälä, Eija H, Wade, Claire M, Lindblad-Toh, Kerstin, O'Brien, Dennis P, Katz, Martin L
Published in Neurobiology of disease (01.06.2011)

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An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed

An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed

by Forman, Oliver P, Hitti, Rebekkah J, Pettitt, Louise, Jenkins, Christopher A, O'Brien, Dennis P, Shelton, G Diane, De Risio, Luisa, Quintana, Rodrigo Gutierrez, Beltran, Elsa, Mellersh, Cathryn
Published in G3 : genes - genomes - genetics (01.09.2016)

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A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia

A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia

by Kolicheski, Ana L., Johnson, Gary S., Mhlanga-Mutangadura, Tendai, Taylor, Jeremy F., Schnabel, Robert D., Kinoshita, Taroh, Murakami, Yoshiko, O’Brien, Dennis P.
Published in Neurogenetics (01.01.2017)

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A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund

A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund

by Sanders, Douglas N., Farias, Fabiana H., Johnson, Gary S., Chiang, Vivian, Cook, James R., O’Brien, Dennis P., Hofmann, Sandra L., Lu, Jui-Yun, Katz, Martin L.
Published in Molecular genetics and metabolism (01.08.2010)

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A mutation in the Warburg syndrome gene, RAB3GAP1 , causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs

A mutation in the Warburg syndrome gene, RAB3GAP1 , causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs

by Mhlanga-Mutangadura, Tendai, Johnson, Gary S, Schnabel, Robert D, Taylor, Jeremy F, Johnson, Gayle C, Katz, Martin L, Shelton, G. Diane, Lever, Teresa E, Giuliano, Elizabeth, Granger, Nicolas, Shomper, Jeremy, O'Brien, Dennis P
Published in Neurobiology of disease (01.02.2016)

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Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24

Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24

by Agler, Caryline, Nielsen, Dahlia M, Urkasemsin, Ganokon, Singleton, Andrew, Tonomura, Noriko, Sigurdsson, Snaevar, Tang, Ruqi, Linder, Keith, Arepalli, Sampath, Hernandez, Dena, Lindblad-Toh, Kerstin, van de Leemput, Joyce, Motsinger-Reif, Alison, O'Brien, Dennis P, Bell, Jerold, Harris, Tonya, Steinberg, Steven, Olby, Natasha J
Published in PLoS genetics (01.02.2014)

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A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds

A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds

by Rohdin, Cecilia, Gilliam, Douglas, O'Leary, Caroline A, O'Brien, Dennis P, Coates, Joan R, Johnson, Gary S, Jäderlund, Karin Hultin
Published in Acta veterinaria scandinavica (23.05.2015)

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A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis

A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis

by Guo, Juyuan, O'Brien, Dennis P, Mhlanga-Mutangadura, Tendai, Olby, Natasha J, Taylor, Jeremy F, Schnabel, Robert D, Katz, Martin L, Johnson, Gary S
Published in BMC veterinary research (03.01.2015)

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A novel mutation in CLCN1 associated with feline myotonia congenita

A novel mutation in CLCN1 associated with feline myotonia congenita

by Gandolfi, Barbara, Daniel, Rob J, O'Brien, Dennis P, Guo, Ling T, Youngs, Melanie D, Leach, Stacey B, Jones, Boyd R, Shelton, G Diane, Lyons, Leslie A
Published in PloS one (30.10.2014)

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A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis

A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis

by Awano, Tomoyuki, Katz, Martin L., O’Brien, Dennis P., Sohar, Istvan, Lobel, Peter, Coates, Joan R., Khan, Shahnawaz, Johnson, Gayle C., Giger, Urs, Johnson, Gary S.
Published in Molecular genetics and metabolism (01.11.2006)

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A mutation in the cathepsin D gene ( CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis

A mutation in the cathepsin D gene ( CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis

by Awano, Tomoyuki, Katz, Martin L., O’Brien, Dennis P., Taylor, Jeremy F., Evans, Jason, Khan, Shahnawaz, Sohar, Istvan, Lobel, Peter, Johnson, Gary S.
Published in Molecular genetics and metabolism (01.04.2006)

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Understanding genetics: why should vets care?

Understanding genetics: why should vets care?

by Jones, Boyd R, Little, Susan, Lyons, Leslie A, Malik, Richard, Nicholas, Frank, O’Brien, Dennis P, Pedersen, Niels C
Published in Journal of feline medicine and surgery (01.03.2015)

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Retinal Pathology in a Canine Model of Late Infantile Neuronal Ceroid Lipofuscinosis

Retinal Pathology in a Canine Model of Late Infantile Neuronal Ceroid Lipofuscinosis

by Katz, Martin L, Coates, Joan R, Cooper, Jocelyn J, O'Brien, Dennis P, Jeong, Manbok, Narfstrom, Kristina
Published in Investigative ophthalmology & visual science (01.06.2008)

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A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria

A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria

by Farias, Fabiana H G, Zeng, Rong, Johnson, Gary S, Shelton, G D, Paquette, Dominique, O'Brien, Dennis P
Published in BMC veterinary research (26.07.2012)

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An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures

An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures

by Bader, Hannah L, Ruhe, Alison L, Wang, Lauren W, Wong, Aaron K, Walsh, Kari F, Packer, Rebecca A, Mitelman, Jonathan, Robertson, Kathryn R, O'Brien, Dennis P, Broman, Karl W, Shelton, G Diane, Apte, Suneel S, Neff, Mark W
Published in PloS one (17.09.2010)

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