Search Results - "Mellersh, Cathryn S." :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

A Deletion in the Canine POMC Gene Is Associated with Weight and Appetite in Obesity-Prone Labrador Retriever Dogs

A Deletion in the Canine POMC Gene Is Associated with Weight and Appetite in Obesity-Prone Labrador Retriever Dogs

by Raffan, Eleanor, Dennis, Rowena J., O’Donovan, Conor J., Becker, Julia M., Scott, Robert A., Smith, Stephen P., Withers, David J., Wood, Claire J., Conci, Elena, Clements, Dylan N., Summers, Kim M., German, Alexander J., Mellersh, Cathryn S., Arendt, Maja L., Iyemere, Valentine P., Withers, Elaine, Söder, Josefin, Wernersson, Sara, Andersson, Göran, Lindblad-Toh, Kerstin, Yeo, Giles S.H., O’Rahilly, Stephen
Published in Cell metabolism (10.05.2016)

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Multiocular defect in the Old English Sheepdog: A canine form of Stickler syndrome type II associated with a missense variant in the collagen-type gene COL11A1

Multiocular defect in the Old English Sheepdog: A canine form of Stickler syndrome type II associated with a missense variant in the collagen-type gene COL11A1

by Stanbury, Katherine, Stavinohova, Renata, Pettitt, Louise, Dixon, Chris, Schofield, Ellen C, Mclaughlin, Bryan, Pettinen, Inka, Lohi, Hannes, Ricketts, Sally L, Oliver, James A, Mellersh, Cathryn S
Published in PloS one (28.12.2023)

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

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

by Mosher, Dana S, Quignon, Pascale, Bustamante, Carlos D, Sutter, Nathan B, Mellersh, Cathryn S, Parker, Heidi G, Ostrander, Elaine A
Published in PLoS genetics (01.05.2007)

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

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

by Forman, Oliver P, De Risio, Luisa, Mellersh, Cathryn S
Published in PloS one (31.05.2013)

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Exonic Short Interspersed Nuclear Element Insertion in FAM161A Is Associated with Autosomal Recessive Progressive Retinal Atrophy in the English Shepherd

Exonic Short Interspersed Nuclear Element Insertion in FAM161A Is Associated with Autosomal Recessive Progressive Retinal Atrophy in the English Shepherd

by Stanbury, Katherine, Schofield, Ellen C, McLaughlin, Bryan, Forman, Oliver P, Mellersh, Cathryn S
Published in Genes (01.07.2024)

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

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

by Downs, Louise M, Mellersh, Cathryn S
Published in PloS one (01.04.2014)

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

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

by Jenkins, Christopher A, Kalmar, Lajos, Matiasek, Kaspar, Mari, Lorenzo, Kyöstilä, Kaisa, Lohi, Hannes, Schofield, Ellen C, Mellersh, Cathryn S, De Risio, Luisa, Ricketts, Sally L
Published in PLoS genetics (30.01.2020)

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

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 Oliver, James A C, Forman, Oliver P, Pettitt, Louise, Mellersh, Cathryn S
Published in PloS one (16.10.2015)

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

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

by Stavinohova, Renata, Hartley, Claudia, Burmeister, Louise M, Ricketts, Sally L, Pettitt, Louise, Tetas Pont, Roser, Hitti, Rebekkah J, Schofield, Ellen, Oliver, James A C, Mellersh, Cathryn S
Published in PloS one (15.08.2019)

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

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

by Forman, Oliver P, Penderis, Jacques, Hartley, Claudia, Hayward, Louisa J, Ricketts, Sally L, Mellersh, Cathryn S
Published in PLoS genetics (01.01.2012)

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

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

by Oliver, James A C, Ricketts, Sally L, Kuehn, Markus H, Mellersh, Cathryn S
Published in Molecular vision (2019)

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A Missense Variant in the Bardet-Biedl Syndrome 2 Gene ( BBS2 ) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog

A Missense Variant in the Bardet-Biedl Syndrome 2 Gene ( BBS2 ) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog

by Hitti-Malin, Rebekkah J, Burmeister, Louise M, Lingaas, Frode, Kaukonen, Maria, Pettinen, Inka, Lohi, Hannes, Sargan, David, Mellersh, Cathryn S
Published in Genes (08.11.2021)

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

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

by Everson, Richard, Pettitt, Louise, Forman, Oliver P, Dower-Tylee, Olivia, McLaughlin, Bryan, Ahonen, Saija, Kaukonen, Maria, Komáromy, András M, Lohi, Hannes, Mellersh, Cathryn S, Sansom, Jane, Ricketts, Sally L
Published in PloS one (16.08.2017)

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

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 Safra, Noa, Hayward, Louisa J, Aguilar, Miriam, Sacks, Benjamin N, Westropp, Jodi L, Mohr, F Charles, Mellersh, Cathryn S, Bannasch, Danika L
Published in PloS one (10.04.2018)

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

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

by Downs, Louise M, Wallin-Håkansson, Berit, Boursnell, Mike, Marklund, Stefan, Hedhammar, Åke, Truvé, Katarina, Hübinette, Louise, Lindblad-Toh, Kerstin, Bergström, Tomas, Mellersh, Cathryn S
Published in PloS one (27.06.2011)

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Genome-wide association study identifies a novel canine glaucoma locus

Genome-wide association study identifies a novel canine glaucoma locus

by Ahonen, Saija J, Pietilä, Elina, Mellersh, Cathryn S, Tiira, Katriina, Hansen, Liz, Johnson, Gary S, Lohi, Hannes
Published in PloS one (07.08.2013)

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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

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 Oliver, James A C, Forman, Oliver P, Pettitt, Louise, Mellersh, Cathryn S
Published in PloS one (18.05.2016)

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

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

by Miyadera, Keiko, Brierley, Ian, Aguirre-Hernández, Jesús, Mellersh, Cathryn S, Sargan, David R
Published in PloS one (12.12.2012)

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

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

by Hitti, Rebekkah J, Oliver, James A C, Schofield, Ellen C, Bauer, Anina, Kaukonen, Maria, Forman, Oliver P, Leeb, Tosso, Lohi, Hannes, Burmeister, Louise M, Sargan, David, Mellersh, Cathryn S
Published in Genes (21.05.2019)

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

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

by Safra, Noa, Hayward, Louisa J, Aguilar, Miriam, Sacks, Benjamin N, Westropp, Jodi L, Mohr, F Charles, Mellersh, Cathryn S, Bannasch, Danika L
Published in PloS one (05.08.2015)

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