Works (4)

Updated: July 5th, 2023 15:35

2021 journal article

A defect in the NOG gene increases susceptibility to spontaneous superficial chronic corneal epithelial defects (SCCED) in boxer dogs

BMC Veterinary Research, 17(1).

By: K. Meurs n, K. Montgomery n, S. Friedenberg*, B. Williams n & B. Gilger n

author keywords: Corneal ulcer; Chronic; Superficial; Recurrent erosion; NOG; Boxer
MeSH headings : Animals; Bone Morphogenetic Proteins / genetics; Bone Morphogenetic Proteins / metabolism; Chronic Disease; Corneal Diseases / veterinary; Dog Diseases / genetics; Dog Diseases / pathology; Dogs; Epithelium, Corneal / pathology; Gene Expression Regulation; Genetic Predisposition to Disease; Whole Genome Sequencing
TL;DR: Many Boxer dogs with SCCED have a genetic defect in NOG, a constitutive protein in the cornea which is a potent inhibitor of BMP, which likely regulate limbal epithelial progenitor cells (LEPC). (via Semantic Scholar)
Sources: Web Of Science, NC State University Libraries, Crossref
Added: August 9, 2021

2021 journal article

A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat


author keywords: Hypertrophic cardiomyopathy; ALMS1; Feline; Mitogenic; Sphynx
MeSH headings : Animals; Cardiomyopathy, Hypertrophic / genetics; Cats / genetics; Cell Cycle Proteins / genetics; Exons; Mice; Mutation / genetics
TL;DR: This study demonstrates a novel form of cardiomyopathy associated with ALMS1 in the cat, and suggests that variants in genes involved with cardiac development and cell regulation, like the AL MS1 gene, may deserve further consideration for association with familial hypertrophic cardiopathy. (via Semantic Scholar)
Sources: Web Of Science, NC State University Libraries
Added: April 12, 2021

2021 article

Use of whole genome analysis to identify shared genomic variants across breeds in canine mitral valve disease

Williams, B., Friedenberg, S. G., Keene, B. W., Tou, S. P., DeFrancesco, T. C., & Meurs, K. M. (2021, June 27). HUMAN GENETICS, Vol. 6.

By: B. Williams n, S. Friedenberg*, B. Keene n, S. Tou n, T. DeFrancesco n & K. Meurs n

MeSH headings : Animals; Breeding; Dog Diseases / genetics; Dogs; Genetic Variation; Genome-Wide Association Study; Heart Valve Diseases / genetics; Heart Valve Diseases / veterinary; Mutation; Whole Genome Sequencing
TL;DR: The findings indicate that development of MMVD in the dog may be related to a combination of genetic and environmental factors that impact specific molecular pathways rather than a single shared genetic variant across or within breeds. (via Semantic Scholar)
UN Sustainable Development Goal Categories
2. Zero Hunger (OpenAlex)
Sources: Web Of Science, NC State University Libraries
Added: July 6, 2021

2018 journal article

Evaluation of genes associated with human myxomatous mitral valve disease in dogs with familial myxomatous mitral valve degeneration


By: K. Meurs n, S. Friedenberg*, B. Williams n, B. Keene n, C. Atkins n, D. Adin n, B. Aona n, T. DeFrancesco n ...

author keywords: Canine; Cavalier King Charles spaniel; Dachshund; Genetic; Mitral valve; Myxomatous valve
MeSH headings : Animals; DNA / blood; Dog Diseases / genetics; Dogs; Heart Valve Diseases / genetics; Heart Valve Diseases / veterinary; Humans; Mitral Valve; Mitral Valve Prolapse / genetics; Mutation; Species Specificity; Whole Genome Sequencing / veterinary
TL;DR: Although mitral valve disease in the CKCS and Dachshund is a familial disease, it was hypothesized that a genetic mutation associated with the development of the human form of MMVD was associated withthe development of canine MMVD and this work identified genetic cause in the genes responsible for the human disease. (via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being (Web of Science; OpenAlex)
Sources: Web Of Science, NC State University Libraries
Added: August 6, 2018

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