Article
Agriculture, Dairy & Animal Science
Judith Wilson, Marcos De Donato, Brooke Appelbaum, Carly Turner Garcia, Sunday Peters
Summary: Overtraining syndrome (OTS) is caused by excessive training and inadequate recovery, leading to decreased performance and impaired repair of damage. Acute, intense physical exercise affects the expression of immune genes, and can be used to evaluate OTS indications.
Article
Pathology
Mayane Faccin, Kirsten A. Landsgaard, Sarai M. Milliron, Alexis H. Jennings, M. Keith Chaffin, Paula R. Giaretta, Raquel R. Rech
Summary: Two horses presented with similar polyphasic histiocytic and lymphoplasmacytic myositis with necrosis, mineralization, and regeneration. Case 1 also had suppurative retropharyngeal lymphadenitis and renal purpura hemorrhagica. Case 2 had a pulmonary abscess caused by Actinobacillus equuli.
VETERINARY PATHOLOGY
(2023)
Article
Agriculture, Dairy & Animal Science
Isabel Thea Roth, Britta Schielke, Markus Rensing, Maren Bernau
Summary: This study analyzed the differences in external traits of successful American Quarter Horses competing in different disciplines using linear traits. The results revealed significant variations between horses depending on their sport discipline, supporting the presence of specialization and subpopulations within the breed. Image analysis was proven to be reliable and efficient for examining horses. Further research is needed to explore the relationship between anatomical features of AQH and successful performance.
Article
Mathematics
Miguel Gonzalez, Cristina Gutierrez, Rodrigo Martinez
Summary: A two-type two-sex branching process is used to model the evolution of carriers and mutations of a Y-linked gene, with limiting growth rates of couples and males on different genotype sets obtained. Results are illustrated through simulated studies contextualized in problems of population genetics.
Article
Cell Biology
Franca Rosa Guerini, Elisabetta Bolognesi, Agata Lax, Luca Nicola Cesare Bianchi, Antonio Caronni, Milena Zanzottera, Cristina Agliardi, Maria Paola Albergoni, Paolo Innocente Banfi, Jorge Navarro, Mario Clerici
Summary: The distribution of HLA alleles in a group of COVID-19 patients from Northern Italy was analyzed, and a significant correlation was found between HLA-B and HLA-C loci and disease severity. The HLA-B07 supertype was associated with severe disease, while the HLA-B27 supertype and C*12:02 allele were associated with milder disease.
Article
Geriatrics & Gerontology
Shijia Ma, Dan Wang, Daojun Xie
Summary: This study explores the expression and function of disulfidptosis-related genes (DRGs) in Alzheimer's disease (AD) through bioinformatics analysis. A total of 22 overlapping genes and 7 hub genes were identified, and a predictive model was established to assess the risk of disulfidptosis subtype in AD patients. The study reveals a close association between disulfidptosis and AD.
FRONTIERS IN AGING NEUROSCIENCE
(2023)
Article
Multidisciplinary Sciences
Ana Rodriguez-Munoz, Alessandro Liguori, Beien Garcia-Bohorguez, Teresa Jaijo, Elena Aller, Jose M. Millan, Gema Garcia-Garcia
Summary: This study explores a workflow for molecular diagnosis of inherited retinal dystrophies, demonstrating the effectiveness of combining minimum allele frequency, family co-segregation, in silico predictions, and in vitro assays to determine the effects of splice site variants identified through DNA-based next generation sequencing. These findings enhance the molecular diagnosis of inherited retinal dystrophies and offer potential benefits for patients in upcoming gene-based therapeutic strategies.
SCIENTIFIC REPORTS
(2022)
Article
Immunology
Tran Ngoc Que, Nguyen Ba Khanh, Bach Quoc Khanh, Chu Van Son, Nguyen Thi Van Anh, Tran Thi Thuy Anh, Pham Dinh Tung, Nguyen Dinh Thang
Summary: This study provides critical information on the frequencies and distributions of HLA alleles and haplotypes in the Kinh Vietnamese population, accounting for more than 85% of Vietnamese citizens. It paves the way to establish an umbilical cord blood bank for cord blood transplantation programs in Vietnam.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Ionut-Florin Iancu, Irene Perea-Romero, Gonzalo Nunez-Moreno, Lorena de la Fuente, Raquel Romero, Almudena Avila-Fernandez, Maria Jose Trujillo-Tiebas, Rosa Riveiro-Alvarez, Berta Almoguera, Inmaculada Martin-Merida, Marta Del Pozo-Valero, Alejandra Damian-Verde, Marta Corton, Carmen Ayuso, Pablo Minguez
Summary: The introduction of NGS technology in genetic diagnosis has increased the amount of genomic information and provided new insights in inherited retinal dystrophies. We built a database to explore genomic information and improve diagnosis, and identified potential variants and genes associated with the phenotype. This resource can also help calculate carrier frequency in IRD genes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Clinical Neurology
Karri Kaivola, Zalak Shah, Ruth Chia, Sonja W. Scholz
Summary: The GBA gene is associated with risk for dementia with Lewy bodies (DLB) in patients without the APOE ε4 allele, while the APOE ε4 allele is associated with DLB co-pathology with Alzheimer's disease. APOE ε4 is not an independent driver of alpha-synuclein pathology in pure DLB, but GBA plays a significant role in the pure DLB subgroup.
Article
Multidisciplinary Sciences
Jennifer Hope Roberts, Jian Zhang, Florent David, Amy McLean, Karen Blumenshine, Eva Mueller-Alander, Jaroslava Halper
Summary: Degenerative Suspensory Ligament Desmitis (DSLD) is a systemic disorder that affects connective tissues in horses, leading to chronic pain and lameness. Currently, DSLD can only be diagnosed through post mortem histological examination. Recent research identified potential biomarkers, BMP2 and FOS, that can be used to diagnose DSLD in living horses. Furthermore, RNA-seq analysis revealed overexpression of these genes in DSLD skin biopsies. The use of a panel containing BMP2 and FOS as diagnostic markers for DSLD in older horses is recommended.
Article
Health Care Sciences & Services
Nilay S. Shah, Cecily Luncheon, Namratha R. Kandula, Pyone Cho, Fleetwood Loustalot, Jing Fang
Summary: The study found that the self-reported diabetes prevalence is higher in non-Hispanic Asian Americans compared to non-Hispanic Whites, with significant differences in prevalence rates among different Asian American subgroups, particularly highest in Filipino and Asian Indian Americans, especially in the age group of 65 and above.
JOURNAL OF GENERAL INTERNAL MEDICINE
(2022)
Article
Veterinary Sciences
Gabriella Kawahisa-Piquini, Luke D. Bass, Lynn M. Pezzanite, Valerie J. Moorman
Summary: This study evaluated the effect of age at training initiation on hoof morphology and lameness incidence in juvenile American Quarter Horses. The results showed that three-year-old horses were more likely to develop forelimb lameness compared to two-year-olds. Lameness was associated with specific hoof morphology characteristics, such as decreased foot width, toe length, heel length, and lateral/medial wall height, as well as increased toe angle.
EQUINE VETERINARY JOURNAL
(2023)
Article
Biochemistry & Molecular Biology
Francesca Tavano, Domenica Gioffreda, Andrea Fontana, Orazio Palmieri, Annamaria Gentile, Tiziana Latiano, Anna Latiano, Tiziana Pia Latiano, Matteo Scaramuzzi, Evaristo Maiello, Francesca Bazzocchi, Francesco Perri
Summary: This study found that a significant proportion of pancreatic cancer patients carry germline mutations in cancer susceptibility genes, regardless of family cancer history. In particular, mutations in the BRCA2 gene are associated with an increased occurrence of pancreatic cancer and a positive family history of endometrial cancer.
MOLECULAR MEDICINE
(2023)
Article
Genetics & Heredity
Giovana E. da Costa, Giordane L. Fernandes, Juliana C. G. Rodrigues, Diana F. da V. B. Leal, Lucas F. Pastana, Esdras E. B. Pereira, Paulo P. Assumpcao, Rommel M. R. Burbano, Sidney E. B. dos Santos, Joao F. Guerreiro, Marianne R. Fernandes, Ney P. C. dos Santos
Summary: Autism spectrum disorder is a neurodevelopmental disorder affecting one in 160 children worldwide. Genetic factors, including CHD8, SCN2A, FOXP1, and SYNGAP1 genes, play a role in the pathophysiology of autism. This study investigated the genetic profile of Amazonian Amerindians, identifying 16 variants with significantly different frequencies from other populations. Understanding these variants can contribute to the diagnosis and pathophysiology of autism in Amerindians and admixed populations.
Article
Agriculture, Dairy & Animal Science
Christopher A. Jenkins, Ellen C. Schofield, Cathryn S. Mellersh, Luisa De Risio, Sally L. Ricketts
Summary: Genotype imputation using a reference panel combining high-density array data with publicly available whole genome sequence consortium variant data is shown to be an effective and accurate method to increase the density of lower-density array datasets in dogs. The study demonstrates high accuracy in imputation, utilizing reference panels consisting of breed-specific array data and multi-breed variant data. The findings provide evidence and support for the efficacy of this approach in canine genetics.
Article
Genetics & Heredity
Danika Bannasch, Kevin Batcher, Fabienne Leuthard, Michael Bannasch, Petra Hug, Denis J. Marcellin-Little, Peter J. Dickinson, Michaela Drogemuller, Cord Drogemuller, Tosso Leeb
Summary: The study identified two FGF4 retrogenes that cause dwarfism in dog breeds and evaluated their effects on body size. The retrogenes significantly reduced height at the shoulders and antebrachial length, with FGF4L1 having a greater effect than FGF4L2. FGF4L1 also influenced carpal valgus, while FGF4L2 increased head width.
Article
Genetics & Heredity
G. Diane Shelton, Katie M. Minor, Ling T. Guo, Alison Thomas-Hollands, Koranda A. Walsh, Steven G. Friedenberg, Jonah N. Cullen, James R. Mickelson
Summary: This report describes a novel genetic basis for congenital dyserythropoietic anemia and polymyopathy in Labrador Retriever littermates. A nonsense variant in the EHBP1L1 gene was identified in a homozygous form in the affected dogs, leading to a premature stop codon and deletion of approximately 90% of the protein. The EHBP1L1 gene is critical to actin cytoskeletal organization and apical-directed transport in polarized epithelial cells, and its connection to BIN1 and DMN2 functions is particularly interesting.
Article
Genetics & Heredity
Matthias Christen, Stefan Rupp, Iris Van Soens, Sofie F. M. Bhatti, Kaspar Matiasek, Thilo von Klopmann, Vidhya Jagannathan, Indiana Madden, Kevin Batcher, Danika Bannasch, Tosso Leeb
Summary: This study investigated a heritable condition called cerebellar degeneration-myositis complex (CDMC) in Nova Scotia Duck Tolling Retrievers (NSDTR). By comparing the genome of an affected dog to control genomes, a protein-changing variant in the SLC25A12 gene was identified and found to be associated with the phenotype. Further analysis revealed the variant as a candidate causative defect for the observed cerebellar signs.
Article
Veterinary Sciences
Filipe Espinheira Gomes, Maria Isabel Casanova, Lara Mouttham, Danika L. Bannasch, Sangwan Park, Soohyun Kim, Laura J. Young, Nicole L. Daley, Sara M. Thomasy, Marta G. Castelhano, Eric C. Ledbetter, Bradford Holmberg, Ryan Boyd, Alexandra Van der Woerdt, Jessica McDonald, Jessica J. Hayward
Summary: This study aimed to identify genetic associations with primary glaucoma in American Cocker Spaniels using a GWAS. Although an association on canine chromosome CFA10 was identified, it did not reach statistical significance. Potential candidate genes within the surrounding linkage disequilibrium interval include CCDC85A and EFEMP1.
AMERICAN JOURNAL OF VETERINARY RESEARCH
(2022)
Article
Agriculture, Dairy & Animal Science
Nicole B. Kingsley, Lynne Sandmeyer, Elaine M. Norton, Doug Speed, Ann Dwyer, Mary Lassaline, Molly McCue, Rebecca R. Bellone
Summary: This study aimed to determine the heritability of insidious uveitis in the Appaloosa horse breed. By analyzing genotype data, it was found that insidious uveitis has a high heritability among Appaloosas, and there are additional genetic loci outside of the known coat pattern gene that contribute to the genetic risk for this disease.
Article
Genetics & Heredity
Kevin Batcher, Scarlett Varney, Verena K. Affolter, Steven G. Friedenberg, Danika Bannasch
Summary: A genome-wide association study identified a candidate variant, SNNL1 insertion, on canine chromosome 18 for pheomelanin intensity in red Poodles. Several genes related to melanogenesis and GPR22 were found to have differential expression in red Poodle skin.
G3-GENES GENOMES GENETICS
(2022)
Article
Agriculture, Dairy & Animal Science
Tosso Leeb, Danika Bannasch, Jeffrey J. Schoenebeck
Summary: Advances in DNA sequencing and other technologies have made it easier to identify genetic risk factors for inherited diseases in dogs. Researchers have reviewed recent technological developments in canine disease genetics and suggest that identifying disease-causing variants in dogs with monogenic diseases may become a widely used diagnostic approach in veterinary medicine. The study also discusses the challenges posed by diseases with complex modes of inheritance and provides insights on interpreting sequence variants based on developments in human clinical genetics.
ANNUAL REVIEW OF ANIMAL BIOSCIENCES
(2023)
Article
Veterinary Sciences
Catarina A. Bianchi, Denis J. Marcellin-Little, Peter J. Dickinson, Tanya C. Garcia, Chai-Fei Li, Kevin Batcher, Danika L. Bannasch
Summary: This study evaluated the effects of the chondrodystrophy-associated FGF4L2 retrogene on intervertebral disc calcification and vertebral geometry. CT scans of the vertebral column were analyzed in Nova Scotia Duck Tolling Retrievers with different copies of the retrogene. Results showed that calcification of the intervertebral discs was more frequent in dogs with 2 retrogene copies compared to those with 1 copy or no copies. The findings have clinical relevance for disease management in specific dog breeds.
AMERICAN JOURNAL OF VETERINARY RESEARCH
(2023)
Article
Multidisciplinary Sciences
Sangwan Park, M. Isabel Casanova, Danika L. Bannasch, Nicole L. Daley, Soohyun Kim, John Kuchtey, Filipe Espinheira Gomes, Brian C. Leonard, Kathryn L. Good, Bianca da C. Martins, Christopher J. Murphy, Sara M. Thomasy
Summary: Acute primary angle closure glaucoma is an ophthalmic emergency that requires prompt treatment. The American Cocker Spaniel shows similarities in ocular morphological traits to humans with the condition, making it a potential animal model for studying glaucoma.
SCIENTIFIC REPORTS
(2022)
Article
Veterinary Sciences
Mark Stetter, Danika Bannasch, Tom Hinds
AMERICAN JOURNAL OF VETERINARY RESEARCH
(2023)
Article
Multidisciplinary Sciences
Kevin Batcher, Scarlett Varney, Terje Raudsepp, Matthew Jevit, Peter Dickinson, Vidhya Jagannathan, Tosso Leeb, Danika Bannasch
Summary: LINE-1 is an active transposable element that inserts host gene retrocopies, resulting in retrocopy number variants (retroCNVs). We discovered 437 retrocopy insertions in 86 equids, with only 5 retroCNVs shared between horses and other equids. A large number of segmentally duplicated LCORL retrocopies were found in all equids but absent in other perissodactyls, and the majority of LCORL transcripts in horses and donkeys originated from these retrocopies. The initial LCORL retrotransposition occurred 18 million years ago, coinciding with equid evolution characterized by body size increase, digit number reduction, and dentition changes. Evolutionary conservation, high expression levels, and ancient timeline support a functional role for the LCORL retrocopy.
Article
Genetics & Heredity
Kari J. Ekenstedt, Katie M. Minor, G. Diane Shelton, James J. Hammond, Andrew D. Miller, Susan M. Taylor, Yanyun Huang, James R. Mickelson
Summary: ARSACS is a human neurological disorder characterized by progressive cerebellar ataxia and peripheral neuropathy. A similar disorder was recently identified in Great Pyrenees dogs, showing widespread central nervous system degeneration leading to progressive cerebellar ataxia and spasticity, combined with peripheral neuropathy. The disease follows an autosomal recessive inheritance pattern and is associated with mutations in the SACS gene.
Article
Veterinary Sciences
Colleen Embersics, Danika Bannasch, Kevin Batcher, Elizabeth C. Boudreau, Molly Church, Andrew Miller, Simon Platt, Jey Koehler, Natasha Olby, John Rossmeisl, Daniel Rissi, Robert Grahn, Jonas Donner, Peter J. Dickinson
Summary: This study defines the association of the FGF4L2 retrogene with fibrocartilaginous embolic myelopathy (FCE) in chondrodystrophic dog breeds. The frequency of the FGF4L2 allele is negatively associated with FCE, supporting the historical observation that FCE is uncommon in these breeds. FGF4 plays an important role in the pathogenesis of FCE.
JOURNAL OF VETERINARY INTERNAL MEDICINE
(2023)
Article
Genetics & Heredity
G. Diane Shelton, Katie M. Minor, Steven G. Friedenberg, Jonah N. Cullen, Ling T. Guo, James R. Mickelson
Summary: The spectrum of canine muscular dystrophies has expanded rapidly with the identification of more affected breeds and associated mutations. Gene defects in the sarcolemma and the extracellular matrix have been found to be responsible for various forms of muscular dystrophies. Whole genome sequencing and whole exome sequencing have helped to discover new causative mutations. In this report, new forms of X-linked muscular dystrophy in Brittany spaniels and a French bulldog are described.
