Works (16)

Updated: July 16th, 2023 15:15

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

ORPHANET JOURNAL OF RARE DISEASES, 16(1).

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 journal article

A novel missense mutation of the NAT10 gene in a juvenile Schnauzer dog with chronic respiratory tract infections

JOURNAL OF VETERINARY INTERNAL MEDICINE, 35(3), 1542–1546.

By: B. Hedgespeth n, A. Birkenheuer n, S. Friedenberg*, N. Olby n & K. Meurs n

author keywords: ciliary dysplasia; congenital; genetics; microtubule; pneumonia; whole genome sequencing
MeSH headings : Animals; Dog Diseases / genetics; Dogs; Male; Mutation; Mutation, Missense; Respiratory Tract Infections / genetics; Respiratory Tract Infections / veterinary; Whole Genome Sequencing / veterinary
TL;DR: W Whole genome sequencing discovered a deleterious missense A/C mutation within the NAT10 gene, a gene essential for microtubule acetylation, appropriate ciliary development, and cytokinesis, suggesting a pathophysiological mechanism for this dog and highlighting an associated mutation or possible novel genetic cause of chronic respiratory infections in dogs. (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, ORCID
Added: March 29, 2021

2021 journal article

Canine junctional epidermolysis bullosa due to a novel mutation in LAMA3 with severe upper respiratory involvement

VETERINARY DERMATOLOGY, 32(4), 379-+.

By: I. Herrmann n, K. Linder n, K. Meurs n, S. Friedenberg*, J. Cullen*, N. Olby n, P. Bizikova n

MeSH headings : Animals; Australia; Cattle; Dog Diseases / genetics; Dogs; Epidermolysis Bullosa, Junctional / genetics; Epidermolysis Bullosa, Junctional / veterinary; Laminin / genetics; Mutation, Missense; Nail Diseases / genetics; Nail Diseases / veterinary
TL;DR: A novel variant in LAMA3 caused a generalized and severe phenotype of JEB with an unique clinical presentation of upper airway obstruction in a litter of puppies with severe upper respiratory involvement. (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, ORCID
Added: July 19, 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

2020 journal article

A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels

Neuromuscular Disorders, 30(5), 353–359.

By: N. Olby n, S. Friedenberg*, K. Meurs n, D. DeProspero n, J. Guevar n, J. Lau n, O. Yost n, L. Guo*, G. Shelton*

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
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.

By: K. Meurs n, S. Friedenberg*, J. Kolb*, C. Saripalli*, P. Tonino*, K. Woodruff n, N. Olby n, B. Keene n ...

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
Sources: Web Of Science, NC State University Libraries, Crossref
Added: June 17, 2019

2018 journal article

Lymphocyte Subsets in the Adrenal Glands of Dogs With Primary Hypoadrenocorticism

VETERINARY PATHOLOGY, 55(1), 177–181.

By: S. Friedenberg n, D. Brown, K. Meurs n & J. Law n

author keywords: Addison's disease; hypoadrenocorticism; endocrine diseases; adrenal gland; immunophenotype; lymphocyte subsets; dogs
MeSH headings : Addison Disease / pathology; Addison Disease / veterinary; Adrenal Glands / pathology; Animals; CD4 Lymphocyte Count / veterinary; Dog Diseases / immunology; Dog Diseases / pathology; Dogs; Female; In Situ Hybridization / veterinary; Lymphocyte Subsets / pathology; Male
TL;DR: It is shown that the lymphocytes are primarily CD4+ rather than CD8+. (via Semantic Scholar)
Sources: Web Of Science, NC State University Libraries
Added: August 6, 2018

2016 conference paper

Coalescence prevention algorithm for level set method

Proceedings of the asme fluids engineering division summer meeting, 2016, vol 1b.

By: M. Talley n, M. Zimmer n & I. Bolotnov n

Sources: NC State University Libraries, NC State University Libraries
Added: August 6, 2018

2016 journal article

Effect of disrupted mitochondria as a source of damage-associated molecular patterns on the production of tumor necrosis factor alpha by splenocytes from dogs

American Journal of Veterinary Research, 77(6), 604–612.

By: S. Friedenberg, H. Strange, J. Guillaumin, Z. VanGundy, E. Crouser & T. Papenfuss

Source: NC State University Libraries
Added: August 6, 2018

2016 journal article

Genotype imputation in the domestic dog

MAMMALIAN GENOME, 27(9-10), 485–494.

By: S. Friedenberg n & K. Meurs n

MeSH headings : Alleles; Animals; Breeding; Computer Simulation; Dogs / genetics; Genotype; Models, Genetic; Polymorphism, Single Nucleotide; Sequence Analysis, DNA
TL;DR: These findings demonstrate that genotype imputation from SNP array-derived data to whole genome-level genotypes is both feasible and accurate in the dog with appropriate breed overlap between the target and reference panels. (via Semantic Scholar)
Sources: Web Of Science, NC State University Libraries
Added: August 6, 2018

2016 journal article

Use of RNA-seq to identify cardiac genes and gene pathways differentially expressed between dogs with and without dilated cardiomyopathy

AMERICAN JOURNAL OF VETERINARY RESEARCH, 77(7), 693–699.

By: S. Friedenberg n, L. Chdid n, B. Keene n, B. Sherry n, A. Motsinger-Reif n & K. Meurs n

MeSH headings : Animals; Cardiomyopathy, Dilated / genetics; Cardiomyopathy, Dilated / metabolism; Cardiomyopathy, Dilated / veterinary; Dog Diseases / genetics; Dog Diseases / metabolism; Dogs; Down-Regulation; Female; Gene Expression; Heart Ventricles; Male; Myocardium / metabolism; RNA / genetics; Up-Regulation
TL;DR: Genes involved in cellular energy metabolism, especially metabolism of carbohydrates and fats, were significantly downregulated in dogs with DCM, and Expression of cardiac structural proteins was also altered in affected dogs. (via Semantic Scholar)
Sources: Web Of Science, NC State University Libraries
Added: August 6, 2018

2016 journal article

Ventricular arrhythmias in Rhodesian Ridgebacks with a family history of sudden death and results of a pedigree analysis for potential inheritance patterns

JAVMA-JOURNAL OF THE AMERICAN VETERINARY MEDICAL ASSOCIATION, 248(10), 1135–1138.

By: K. Meurs n, J. Weidman, S. Rosenthal, K. Lahmers* & S. Friedenberg n

MeSH headings : Animals; Arrhythmias, Cardiac / pathology; Arrhythmias, Cardiac / veterinary; Death, Sudden / veterinary; Dog Diseases; Dogs; Female; Genetic Predisposition to Disease; Male; Pedigree
TL;DR: Holter monitoring of Rhodesian Ridgebacks with a family history of an arrhythmia or sudden death is recommended for early diagnosis of disease and an autosomal recessive pattern of inheritance in the studied dogs was likely, and inbreeding should be strongly discouraged. (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

2015 journal article

Evaluation of a DLA-79 allele associated with multiple immune-mediated diseases in dogs

Immunogenetics, 68(3), 205–217.

By: S. Friedenberg n, G. Buhrman n, L. Chdid n, N. Olby n, T. Olivry n, J. Guillaumin*, T. O’Toole*, R. Goggs* ...

Contributors: S. Friedenberg n, G. Buhrman n, L. Chdid n, N. Olby n, T. Olivry n, J. Guillaumin*, T. O’Toole*, R. Goggs* ...

author keywords: Canine; Immune-mediated disease; Dog leukocyte antigen; Major histocompatibility complex class Ib
MeSH headings : Alleles; Amino Acid Substitution; Animals; Autoimmune Diseases / genetics; Autoimmune Diseases / immunology; Binding Sites; Dog Diseases / genetics; Dog Diseases / immunology; Dogs; Exons; Gene Frequency; Genetic Predisposition to Disease; Genotype; Histocompatibility Antigens Class I / chemistry; Histocompatibility Antigens Class I / genetics; Histocompatibility Antigens Class I / immunology; Immune System Diseases / veterinary; Meta-Analysis as Topic; Models, Molecular; Peptides / chemistry; Peptides / metabolism; Phenotype; Polymorphism, Single Nucleotide; Protein Conformation; Reproducibility of Results; Structure-Activity Relationship
TL;DR: A strong association is demonstrated between two polymorphic positions (10 bp apart) in exon 2 of one allele in D LA-79, DLA-79*001:02, and multiple immune-mediated diseases, resulting in F33L and N37D amino acid changes that are likely to affect critical interactions with the peptide N-terminus. (via Semantic Scholar)
Sources: Web Of Science, Crossref, ORCID, NC State University Libraries
Added: August 6, 2018

2013 journal article

Successful treatment of a dog with massive 5-fluorouracil toxicosis

Journal of Veterinary Emergency and Critical Care (San Antonio, Tex. : 2001), 23(6), 643–647.

By: S. Friedenberg, A. Brooks, A. Monnig & E. Cooper

Source: NC State University Libraries
Added: August 6, 2018

journal article

Evaluation of artificial selection in Standard Poodles using whole-genome sequencing

Friedenberg, S. G., Meurs, K. M., & Mackay, T. F. C. Mammalian Genome, 27(11-12), 599–609.

By: S. Friedenberg, K. Meurs & T. Mackay

Source: NC State University Libraries
Added: August 6, 2018

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