Cargando…

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

Seven Northern Inuit Dogs (NID) were diagnosed by pedigree analysis with an autosomal recessive inherited oculoskeletal dysplasia (OSD). Short-limbed dwarfism, angular limb deformities and a variable combination of macroglobus, cataracts, lens coloboma, microphakia and vitreopathy were present in al...

Descripción completa

Detalles Bibliográficos
Autores principales:	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.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2019
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6695176/ https://www.ncbi.nlm.nih.gov/pubmed/31415586 http://dx.doi.org/10.1371/journal.pone.0220761

Ejemplares similares

A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs
por: Hitti-Malin, Rebekkah J., et al.
Publicado: (2020)

A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog
por: Hitti-Malin, Rebekkah J., et al.
Publicado: (2021)

Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes NECAP1 as a Novel Candidate Gene for Retinal Degeneration
por: Hitti, Rebekkah J., et al.
Publicado: (2019)

An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed
por: Forman, Oliver P., et al.
Publicado: (2016)

Identification of a variant in NDP associated with X-linked retinal dysplasia in the English cocker spaniel dog
por: Joyce, Hannah, et al.
Publicado: (2021)

Correction: Identification of a variant in NDP associated with X-linked retinal dysplasia in the English cocker spaniel dog
por: Joyce, Hannah, et al.
Publicado: (2022)

Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs
por: Jenkins, Christopher A., et al.
Publicado: (2020)

Improving the resolution of canine genome-wide association studies using genotype imputation: A study of two breeds
por: Jenkins, Christopher A., et al.
Publicado: (2021)

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
por: Oliver, James A. C., et al.
Publicado: (2016)

Two Independent Mutations in ADAMTS17 Are Associated with Primary Open Angle Glaucoma in the Basset Hound and Basset Fauve de Bretagne Breeds of Dog
por: Oliver, James A. C., et al.
Publicado: (2015)

Parallel Mapping and Simultaneous Sequencing Reveals Deletions in BCAN and FAM83H Associated with Discrete Inherited Disorders in a Domestic Dog Breed
por: Forman, Oliver P., et al.
Publicado: (2012)

A Novel Genome-Wide Association Study Approach Using Genotyping by Exome Sequencing Leads to the Identification of a Primary Open Angle Glaucoma Associated Inversion Disrupting ADAMTS17
por: Forman, Oliver P., et al.
Publicado: (2015)

An intronic LINE-1 insertion in MERTK is strongly associated with retinopathy in Swedish Vallhund dogs
por: Everson, Richard, et al.
Publicado: (2017)

Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed
por: Fenn, Joe, et al.
Publicado: (2016)

Primary closed angle glaucoma in the Basset Hound: Genetic investigations using genome-wide association and RNA sequencing strategies
por: Oliver, James A.C., et al.
Publicado: (2019)

On the move: exploring Inuit and non-Inuit health service providers’ perspectives about youth, family and community participation in care in Nunavik
por: Fraser, Sarah Louise, et al.
Publicado: (2021)

An Intronic SINE Insertion in FAM161A that Causes Exon-Skipping Is Associated with Progressive Retinal Atrophy in Tibetan Spaniels and Tibetan Terriers
por: Downs, Louise M., et al.
Publicado: (2014)

Rhomboid blepharoplasty and cryotherapy for the treatment of a squamous cell carcinoma on the lower eyelid in a horse
por: Jeanes, Emily C., et al.
Publicado: (2018)

Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing SBF2 (MTMR13) genetic variant: a new spontaneous clinical model
por: Granger, Nicolas, et al.
Publicado: (2019)

Prevalence of pectinate ligament dysplasia and associations with age, sex and intraocular pressure in the Basset hound, Flatcoated retriever and Dandie Dinmont terrier
por: Oliver, James A. C., et al.
Publicado: (2016)

Glaucoma-causing ADAMTS17 mutations are also reproducibly associated with height in two domestic dog breeds: selection for short stature may have contributed to increased prevalence of glaucoma
por: Jeanes, Emily C., et al.
Publicado: (2019)

Low prevalence of retinopathy among Greenland Inuit
por: Larsen, Trine Louise Jul, et al.
Publicado: (2021)

Hereditary sensory and autonomic neuropathy in a family of mixed breed dogs associated with a novel RETREG1 variant
por: Gutierrez‐Quintana, Rodrigo, et al.
Publicado: (2021)

A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever
por: Downs, Louise M, et al.
Publicado: (2014)

Breed and conformational predispositions for prolapsed nictitating membrane gland (PNMG) in dogs in the UK: A VetCompass study
por: O’Neill, Dan G., et al.
Publicado: (2022)

DNA testing and domestic dogs
por: Mellersh, Cathryn
Publicado: (2011)

The genetics of eye disorders in the dog
por: Mellersh, Cathryn S
Publicado: (2014)

A genome-wide association study of deafness in three canine breeds
por: Hayward, Jessica J., et al.
Publicado: (2020)

Circumpolar Inuit health systems
por: Ellsworth, Leanna, et al.
Publicado: (2013)

Thyroid autoimmunity in Greenlandic Inuit
por: Noahsen, Paneeraq, et al.
Publicado: (2022)

Food Reward after a Traditional Inuit or a Westernised Diet in an Inuit Population in Greenland
por: Pedersen, Hanne, et al.
Publicado: (2022)

Hunger among Inuit children in Canada
por: Findlay, Leanne C., et al.
Publicado: (2013)

“Double culturedness”: the “capital” of Inuit nurses
por: Møller, Helle
Publicado: (2013)

Gut Microbiome of the Canadian Arctic Inuit
por: Girard, Catherine, et al.
Publicado: (2017)

Fahr’s Syndrome in a Greenlandic Inuit
por: Pedersen, Anne Toftgaard, et al.
Publicado: (2018)

Metabolic profile in two physically active Inuit groups consuming either a western or a traditional Inuit diet
por: Munch-Andersen, Thor, et al.
Publicado: (2012)

Inuit women's stories of strength: informing Inuit community-based HIV and STI prevention and sexual health promotion programming
por: Rand, Jenny R.
Publicado: (2016)

Inuit-defined determinants of food security in academic research focusing on Inuit Nunangat and Alaska: A scoping review protocol
por: Naylor, Angus, et al.
Publicado: (2023)

High protein and cholesterol intakes associated with emergence of glucose intolerance in a low-risk Canadian Inuit population
por: Sefidbakht, Saghar, et al.
Publicado: (2015)

Computer-Aided Histopathological Characterisation of Endometriosis Lesions
por: McKInnon, Brett D., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_fokskns00lpr5vdi2hrm32jhee