Article
Biotechnology & Applied Microbiology
Maya Hiltpold, Naveen Kumar Kadri, Fredi Janett, Ulrich Witschi, Fritz Schmitz-Hsu, Hubert Pausch
Summary: The study identified novel recessive QTL for male fertility in Brown Swiss cattle, with one QTL associated with sperm head shape anomalies. Fine-mapping approaches and whole-genome sequencing revealed candidate causal variants linked to these QTL, suggesting that non-coding variants may play a significant role in bull fertility variation.
Article
Genetics & Heredity
Daniela Elena Ilie, Alexandru Eugeniu Mizeranschi, Ciprian Valentin Mihali, Radu Ionel Neam, George Vlad Goilean, Ovidiu Ionut Georgescu, Daniela Zaharie, Mihai Carabas, Ioan Hutu
Summary: This study conducted the first GWAS for somatic cell score (SCS) in Romanian dairy cattle breeds, identifying one significant SNP associated with SCS and 40 suggestive SNPs. The results contribute to expanding the knowledge on genetic variability explained by SNPs for SCS in dairy cattle.
Article
Multidisciplinary Sciences
Jose G. Cortes-Hernandez, Felipe J. Ruiz-Lopez, Carlos G. Vasquez-Pelaez, Adriana Garcia-Ruiz
Summary: This study aimed to investigate the runs of homozygosity (ROH) in the Mexican Holstein population and their associations with milk, fat and protein yields, and conformation final score. The results showed evidence of genomic regions preserved by genetic selection, which were associated with improved productivity and functionality of dairy cattle.
Article
Agriculture, Dairy & Animal Science
B. Li, P. M. VanRaden, D. J. Null, J. R. O'Connell, J. B. Cole
Summary: This study aimed to identify potential quantitative trait loci (QTL) for 27 production, fitness, and conformation traits of Guernsey cattle through genome-wide association analyses, with a major QTL detected on BTA19 and the MYH10 gene within this region highly associated with milk production and body conformation traits. After fine mapping, only one significant SNP was found on BTA19 for most traits, with multiple independent significant SNPs identified for protein yield, dairy form, and stature. The haplotype hosting the major QTL on BTA19 was traced back to a US Guernsey born in 1954, indicating a long-term influence on the population.
JOURNAL OF DAIRY SCIENCE
(2021)
Article
Agriculture, Dairy & Animal Science
Zala Brajnik, Jernej Ogorevc
Summary: Inflammation of mammary tissue (mastitis) is a major health issue in dairy ruminants and the most economically important infectious disease in the dairy sector. Improving mastitis resistance is a key goal in breeding programs, but identifying associated alleles is challenging. This study integrated heterogeneous data to create a comprehensive database of mastitis-associated candidate loci and identified the most promising candidate genes.
JOURNAL OF ANIMAL SCIENCE AND BIOTECHNOLOGY
(2023)
Article
Agronomy
Xueyan Shan, W. Paul Williams, Daniel G. Peterson
Summary: Aflatoxin contamination is a significant challenge for maize production in the southeastern United States. This study used resequencing to identify genetic variations associated with aflatoxin resistance, providing valuable markers for fine-mapping of candidate regions. The findings demonstrate the potential of resequencing in molecular breeding-based crop improvement.
Article
Urology & Nephrology
Aditya Surapaneni, Pascal Schlosser, Linda Zhou, Celina Liu, Nilanjan Chatterjee, Dan E. Arking, Diptavo Dutta, Josef Coresh, Eugene P. Rhee, Morgan E. Grams
Summary: The incorporation of genetic information can aid investigations into the causal underpinnings of disease processes. In this study, we identified genetic associations with the serum proteome in African Americans with chronic kidney disease attributed to hypertension and found evidence of colocalization with gene expression and disease processes.
KIDNEY INTERNATIONAL
(2022)
Article
Veterinary Sciences
Jennifer N. Kiser, Holly L. Neibergs
Summary: This study identified loci and heritability estimates associated with BCoV infection and BRD in dairy calves and feedlot cattle. Results suggest that selection breeding may help reduce susceptibility to BCoV infection and BRD in cattle.
FRONTIERS IN VETERINARY SCIENCE
(2021)
Article
Biology
Fuki Kawaguchi, Fuka Kakiuchi, Kenji Oyama, Hideyuki Mannen, Shinji Sasazaki
Summary: This study confirmed the effects of five polymorphisms on C18:1 in beef fat in Japanese Black cattle populations and conducted LD analysis to determine the locations of QTLs. Significant associations were found between specific polymorphisms and C18:1 in different cattle populations, indicating the existence of QTLs on BTA19 that could contribute to efficient searches for responsible genes and polymorphisms related to fatty acid composition.
Article
Veterinary Sciences
Tosapol Dejyong, Karoon Chanachai, Nathawit Immak, Tippawon Prarakamawongsa, Theera Rukkwamsuk, Damian Tago Pacheco, Waraphon Phimpraphai
Summary: Mastitis in dairy cattle can result in significant financial losses, including reduced milk yield, the inability to sell milk during the withdrawal period after treatment, and reduced commercial value due to increased somatic cell count. This study conducted a cross-sectional survey on 208 dairy cattle farms in Chiang Mai, Thailand, aiming to identify risk factors associated with high somatic cell count (SCC) and assess the economic impact of high SCC. The findings revealed that inappropriate vacuum pressure and pulsation rate of milking machines were significant risk factors for high SCC, and treating affected cows was found to be more cost-effective than culling. The average economic loss in affected farms was estimated to be 557 USD for three months.
FRONTIERS IN VETERINARY SCIENCE
(2022)
Article
Plant Sciences
Jinita Sthapit Kandel, German Sandoya, Wei Zhou, Quentin D. Read, Beiquan Mou, Ivan Simko
Summary: This study identified lettuce accessions resistant to bacterial leaf spot (BLS) and associated quantitative trait loci (QTL). Significant QTLs were found on four lettuce chromosomes, and accessions with high resistance can be valuable resources for lettuce germplasm improvement.
Article
Biochemical Research Methods
Jing Chen, Lindsey J. Leach, Zewei Luo
Summary: Mapping quantitative trait loci (QTL) in autotetraploid species is a timely and challenging task. Two papers by Wu and his colleagues proposed statistical methods for QTL mapping in these species, but have been criticized for fundamental conceptual errors from statistical and genetic perspectives.
BRIEFINGS IN BIOINFORMATICS
(2021)
Article
Biotechnology & Applied Microbiology
Fenglei Sun, Yanlong Yang, Penglong Wang, Jun Ma, Xiongming Du
Summary: This study provides insights into the genetic basis of cotton yield under drought conditions and identifies potential candidate genes for breeding high-yield cotton varieties.
Article
Agronomy
Liwen Su, Jiquan Gou, Haixuan Lv, Zhikui Cheng, Lianlian Ma, Xiaochun Huang, Wenting Wu, Wenjin Yu, Peng Wang, Zhengguo Liu
Summary: This study constructed a high-density genetic map of wax gourd using whole-genome resequencing and identified quantitative trait loci (QTLs) related to fruit-related traits. This is the first high-density genetic map of wax gourd constructed using whole-genome resequencing and provides a foundation for future research.
Article
Agriculture, Dairy & Animal Science
S. Buaban, K. Lengnudum, W. Boonkum, P. Phakdeedindan
Summary: Genome-wide association studies were conducted to identify genomic regions, candidate genes, and pathways associated with milk production traits and somatic cell score in a Thai dairy cattle population. The results revealed multiple genomic regions contributing to polygenic inheritance of the studied traits.
JOURNAL OF DAIRY SCIENCE
(2022)
Article
Cardiac & Cardiovascular Systems
Andrea Rossi, Alberto Giannoni, Martina Nesti, Pasquale Notarstefano, Vincenzo Castiglione, Gianluca Solarino, Lucio Teresi, Gianluca Mirizzi, Vincenzo Russo, Luca Panchetti, Umberto Startari, Andrea Ripoli, Francesco Gentile, Amato Santoro, Nicoletta Botto, Giancarlo Casolo, Juan Sieira, Maurizio Pieroni, Pasquale Santangeli, Michele Emdin, Marcello Piacenti
Summary: Heterogeneity of refractory periods in the right ventricular outflow tract (RVOT) and right ventricular (RV) apex is a strong independent predictor of life-threatening arrhythmias in patients with Brugada syndrome (BrS), beyond traditional predictors and inducibility of ventricular tachycardia/ventricular fibrillation at electrophysiological study (EPS).
Review
Cardiac & Cardiovascular Systems
Vincenzo Russo, Erika Parente, Antonella Groppelli, Giulia Rivasi, Marco Tomaino, Alessio Gargaro, Daniele Giacopelli, Andrea Ungar, Gianfranco Parati, Artur Fedorowski, Richard Sutton, J. Gert van Dijk, Michele Brignole
Summary: This review discusses the timing of tilt-induced asystole and loss of consciousness (LOC) in tilt-testing methodology. The commonly used Italian protocol is not always followed strictly, allowing for reassessment of the incidence of asystole during early tilt-down compared to late, established LOC. Asystole is less common in early tilt down and decreases with increasing age, but more common if LOC is established as the test-end point, and it is age-independent. The review also highlights the usefulness of asystole occurrence as a guide for pacemaker therapy in highly symptomatic older vasovagal syncope patients.
Article
Agriculture, Dairy & Animal Science
Heidi Signer-Hasler, Lucas Casanova, Alex Barenco, Blaise Maitre, Alessandro Bagnato, Mario Vevey, Beate Berger, Mojca Simcic, Denis Boichon, Aurelien Capitan, Ivica Medugorac, Joern Bennewitz, Gabor Meszaros, Johann Soelkner, Cord Droegemueller, Christine Flury
Summary: We analyzed genome-wide SNP data from 18 local cattle breeds from the Alpine region to understand their population structure and identify genomic regions involved in positive selection. Different breeds like Evolener, Eringer, Valdostana Pezzata Nera, and Valdostana Castana showed distinct genetic differences compared to other Alpine breeds. We found selection signatures on chromosome 6 near genes related to coat color and body size, and identified 47 genome regions with ROH islands using high-density SNP data. The results provide insights into adaptation to the alpine environment and specific characteristics in local Alpine cattle breeds.
Article
Cardiac & Cardiovascular Systems
Vincenzo Russo, Alfredo Caturano, Federico Guerra, Federico Migliore, Giuseppe Mascia, Andrea Rossi, Martina Nesti, Vincenzo Ezio Santobuono, Emilio Attena, Gianfranco Tola, Luigi Sciarra, Giulio Conte, Alessandro Paoletti Perini, Pietro Francia, Gregory Dendramis, Zefferino Palama, Stefano Albani, Andrea Ottonelli Ghidini, Leonardo Calo, Antonio D'Onofrio, Enrico Baldi
Summary: This study compares device-related complications, infections, and inappropriate therapies between drug-induced type 1 Brugada Syndrome patients with transvenous-ICD (TV-ICD) and subcutaneous-ICD (S-ICD). The results show that there were no significant differences between S-ICD and TV-ICD in terms of inappropriate ICD therapies, device-related complications, and infections. However, the S-ICD group had a trend towards reduced lead-related complications.
Article
Biochemistry & Molecular Biology
Simona Daniele, Simona Saporiti, Stefano Capaldi, Deborah Pietrobono, Lara Russo, Uliano Guerrini, Tommaso Laurenzi, Elham Ataie Kachoie, Luca Palazzolo, Vincenzo Russo, Maria Pia Abbracchio, Ivano Eberini, Maria Letizia Trincavelli
Summary: GPR17, a key regulator of myelination, is activated by endogenous ligands and pro-inflammatory molecules. This study investigates the structural and functional interactions between GPR17 and chemokine receptors CXCR2 and CXCR4. The results show that these receptors can form heterodimers and modulate intracellular cAMP levels. This cross-talk between receptors could impact the neuroinflammatory environment associated with demyelinating events.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cardiac & Cardiovascular Systems
Vincenzo Russo, Dario Fabiani, Silvia Leonardi, Emilio Attena, Giuliano D'Alterio, Ciro Cotticelli, Anna Rago, Sara Sarpa, Benedicta Maione, Antonio D'Onofrio, Paolo Golino, Gerardo Nigro
Summary: This study aimed to evaluate the effect of dual pathway inhibition on plasma inflammation and coagulation markers in patients with CAD and/or PAD. The results showed a significant reduction in IL-6 and fibrinogen levels, as well as an increase in GDF-15 levels after 24 weeks of dual pathway inhibition treatment. Hemoglobin, renal function, and cardiovascular homeostasis biomarkers remained stable over time. Dual pathway inhibition treatment was associated with a reduction in inflammation biomarkers.
JOURNAL OF CARDIOVASCULAR PHARMACOLOGY
(2023)
Review
Medicine, General & Internal
Anna Lombardi, Mariarosaria De Luca, Dario Fabiani, Francesco Sabatella, Carmen Del Giudice, Adriano Caputo, Luigi Cante, Michele Gambardella, Stefano Palermi, Rita Tavarozzi, Vincenzo Russo, Antonello D'Andrea
Summary: SARS-CoV-2 rapidly spread globally, causing the costly and deadly COVID-19 pandemic. Pulmonary manifestations are common in this syndrome, along with frequent cardiovascular complications. Ultrasound evaluations, particularly POCUS protocols, are crucial in diagnosing, monitoring, and predicting the prognosis of COVID-19 patients, especially in intensive care units.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Biochemistry & Molecular Biology
Andreina Carbone, Roberta Bottino, Antonello D'Andrea, Vincenzo Russo
Summary: Currently, direct oral anticoagulants (DOACs) are the first-line anticoagulant strategy for non-valvular atrial fibrillation (NVAF) patients, showing equal efficacy and greater safety compared to warfarin. However, the results of DOAC trials cannot be extrapolated to specific populations such as obese, elderly, frail, and cancer patients, which are common in clinical practice. Additionally, the evidence for DOAC use in patients with bioprosthetic heart valves is limited and controversial. This review aims to clarify the best anticoagulant strategy for these special and understudied subpopulations.
Article
Cardiac & Cardiovascular Systems
Vincenzo Russo, Giovanni Papaccioli, Valeria Maddaloni, Adriano Caputo, Nicola Pepe, Anna Rago, Michele Maiorino, Paolo Golino, Gerardo Nigro
Summary: We present a case of drug-induced type 1 Brugada syndrome with a high risk of arrhythmia associated with a mutation in the Lamin A/C gene.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Article
Cell Biology
Laura Raccosta, Maura Marinozzi, Susan Costantini, Daniela Maggioni, Lorena Maria Ferreira, Gianfranca Corna, Paola Zordan, Angela Sorice, Diego Farinello, Silvia Bianchessi, Michela Riba, Dejan Lazarevic, Paolo Provero, Matthias Mack, Attilio Bondanza, Ivan Nalvarte, J-A Gustafsson, Valeria Ranzani, Francesco De Sanctis, Stefano Ugel, Silvere Baron, Jean-Marc A. Lobaccaro, Lorenzo Pontini, Manuela Pacciarini, Catia Traversari, Massimiliano Pagani, Vincenzo Bronte, Giovanni Sitia, Per Antonson, Andrea Brendolan, Alfredo Budillon, Vincenzo Russo
Summary: Lipid and cholesterol metabolism play a crucial role in tumor cell behavior and tumor microenvironment. Perturbing the lipidome of tumor microenvironment by genetic and pharmacological approaches, we discovered that the expression of sulfotransferase 2B1b and the treatment with a new LXR antagonist can promote monoctye-derived antigen-presenting cells in tumor and synergize with immunotherapy.
CELL DEATH & DISEASE
(2023)
Article
Medicine, General & Internal
Pierpaolo Di Micco, Francesca Futura Bernardi, Giuseppe Camporese, Mario Biglietto, Alessandro Perrella, Tiziana Ciarambino, Vincenzo Russo, Egidio Imbalzano
Summary: Nattokinase (NK) is a food-derived protease with multiple activities, including improving fibrinolytic activities, regulating blood pressure, and antiplatelet activities. NK can be taken orally and reaches its peak concentration after 12 hours. In addition, it has potential antithrombotic activity. All these activities have been studied in animals and humans in vitro and in vivo. However, clinical trials are needed to confirm its efficacy and safety.
ITALIAN JOURNAL OF MEDICINE
(2023)
Editorial Material
Cardiac & Cardiovascular Systems
Vincenzo Russo, Mirella Limatola, Corina Valentina De Santis Ciacci, Alfredo Mauriello
JOURNAL OF ARRHYTHMIA
(2023)
Article
Agriculture, Dairy & Animal Science
Maria Giuseppina Strillacci, Chiara Punturiero, Raffaella Milanesi, Francesca Bernini, Tiziano Mason, Alessandro Bagnato
Summary: A genome-wide association study was conducted to identify Quantitative Trait Loci (QTL) associated with mastitis susceptibility. 52 lactating cows were classified into resistant and susceptible groups based on their antibiotic treatment history and somatic cell count (SCC). Using genotyping data from the GGP Bovine 100K SNP chip, 26 SNPs related to mastitis susceptibility were identified on 9 chromosomes. Taking into account treatment data and SCC improved the accuracy of classifying cows as resistant or susceptible. Therefore, the mandatory recording of treatments starting from January 2022 could enhance genetic selection for mastitis resistance.
ITALIAN JOURNAL OF ANIMAL SCIENCE
(2023)
Review
Genetics & Heredity
Alfredo Mauriello, Antonia Ascrizzi, Riccardo Molinari, Luigi Falco, Alfredo Caturano, Antonello D'Andrea, Vincenzo Russo
Summary: Pharmacogenomics plays an important role in personalized medicine, especially in the field of cardiovascular drug therapy. Genotype-guided approach improves the effectiveness of antiplatelet therapy, while various genetic polymorphisms affect the efficacy of anticoagulants and statin drugs. Pharmacogenomics has the potential to guide new drug therapies for cardiovascular diseases.
Meeting Abstract
Surgery
D. Khan, K. Tariq, K. Lee, E. Dyson, V. Russo, L. Watkins, A. Russo
BRITISH JOURNAL OF SURGERY
(2023)