Works (4)
Updated: July 5th, 2023 15:34
2020 journal article
A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels
Neuromuscular Disorders, 30(5), 353–359.
author keywords: Canine; Centronuclear myopathy; Myotubularin myopathy
MeSH headings : Animals; Dogs; Male; Myopathies, Structural, Congenital / genetics; Myopathies, Structural, Congenital / pathology; Myopathies, Structural, Congenital / physiopathology; Pedigree; Phenotype; Protein Tyrosine Phosphatases, Non-Receptor / genetics
TL;DR:
The purpose of this study was to report the findings of clinical and genetic evaluation of a 3-month old male Boykin spaniel that presented with progressive weakness that causes a severe form of X-linked myotubular myopathy, comparable to the human counterpart.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science)
Sources: Web Of Science, NC State University Libraries, Crossref, ORCID
Added: June 29, 2020
2019 journal article
A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death
Human Genetics, 138(5), 515–524.
MeSH headings : Amino Acid Sequence; Animals; Base Sequence; Cardiomyopathy, Dilated / genetics; Cardiomyopathy, Dilated / veterinary; Connectin / genetics; Death, Sudden, Cardiac / etiology; Death, Sudden, Cardiac / veterinary; Disease Models, Animal; Dogs; Female; Genetic Predisposition to Disease / genetics; Male; Mutation, Missense / genetics; Protein Kinases / genetics; Whole Genome Sequencing
TL;DR:
The dog provides a large animal model of familial dilated cardiomyopathy and is an excellent model to improve the understanding of the genotypic phenotypic relationships, penetrance, expression and the pathophysiology of variants in the titin gene.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science)
Sources: Web Of Science, NC State University Libraries, Crossref
Added: June 17, 2019
2018 journal article
A de novo mutation in the EXT2 gene associated with osteochondromatosis in a litter of American Staffordshire Terriers
Journal of Veterinary Internal Medicine, 32(3), 986–992.
author keywords: bone; cartilage; genetics; multiple cartilaginous exostoses; mutation; osteochondroma
MeSH headings : Animals; Cartilage / pathology; Dog Diseases / genetics; Dog Diseases / pathology; Dogs; Female; Genetic Variation / genetics; Male; Mosaicism / veterinary; N-Acetylglucosaminyltransferases / genetics; Osteochondromatosis / genetics; Osteochondromatosis / pathology; Osteochondromatosis / veterinary; Polymorphism, Single Nucleotide / genetics; Whole Genome Sequencing / veterinary
TL;DR:
The identical mutation arose de novo in a litter of American Staffordshire Terrier puppies and represents the first reported mutation associated with osteochondromatosis in dogs.
(via Semantic Scholar)
open access via doi.org (publisher)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science)
Sources: Web Of Science, NC State University Libraries, Crossref, ORCID
Added: August 6, 2018
2018 journal article
Deafness and vestibular dysfunction in a Doberman Pinscher puppy associated with a mutation in the PTPRQ gene
Journal of Veterinary Internal Medicine, 32(2), 665–669.
author keywords: deafness; Doberman Pinscher; genetics; PTPRQ; vestibular disease
MeSH headings : Animals; Dog Diseases / genetics; Dogs; Female; Frameshift Mutation; Hearing Loss / genetics; Hearing Loss / veterinary; Receptor-Like Protein Tyrosine Phosphatases, Class 3 / genetics; Vestibular Diseases / genetics; Vestibular Diseases / veterinary; Whole Genome Sequencing
TL;DR:
The identification of a genetic alteration on the PTPRQ gene that is associated with congenital hearing and vestibular disorder in a young Doberman Pinscher dog is reported.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science)
Sources: Web Of Science, NC State University Libraries, Crossref, ORCID
Added: August 6, 2018
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