Article
Veterinary Sciences
Gertrud Grilz-Seger, Matjaz Mesaric, Gottfried Brem, Marko Cotman
Summary: Different approaches and classification systems have been used to describe equine coat colour, such as in the Slovenian Posavje Horse where colour spectrophotometry revealed high phenotypic variability in bay coat colour, with darker shades associated with specific genotype combinations. The CIE L*a*b colour spectrophotometry is an effective tool to characterize and quantify coat colour in horses, particularly for chestnut horses with unknown genetic backgrounds of coat colour variation.
SLOVENIAN VETERINARY RESEARCH
(2021)
Article
Oncology
Carolina Bonilla, Bernardo Bertoni, Josine L. Min, Gibran Hemani, Hannah R. Elliott
Summary: Polymorphisms in pigmentation genes have been found to be associated with DNA methylation sites in European populations. Some DNA methylation sites are related to traits such as red hair, hair color, melanoma, and basal cell carcinoma.
PIGMENT CELL & MELANOMA RESEARCH
(2021)
Article
Agriculture, Dairy & Animal Science
Xianbo Jia, Peng Ding, Shiyi Chen, Shaokang Zhao, Jie Wang, Songjia Lai
Summary: This study investigated gene frequencies of pigmentation genes in four Chinese native rabbit breeds with different coat colors, revealing significant genetic variations among the populations. The results provide insights into the genetic background and valuable genetic resources of these indigenous rabbit breeds.
Article
Genetics & Heredity
Chelby Lynn Gossett, Danielle Guyer, Jessica Hein, Samantha A. Brooks
Summary: This study examined the relationship between white-spotting percentage and genotypes in American Paint Horses using digital photograph analysis. The results showed that the number of white-spotting alleles is positively correlated with white-coat percentage, with chestnut-based Paint Horses having a higher percentage. The study also found differences in white-coat percentage among different registry categories of the American Paint Horse Association.
Article
Agriculture, Dairy & Animal Science
Jin Lan, Min Wang, Ke Qin, Xiaofeng Liu, Xuan Shi, Guanjie Sun, Xiaohong Liu, Yaosheng Chen, Zuyong He
Summary: This study examined the subcellular localization and cAMP signaling capability of different MC1R variants in porcine kidney cells, and identified how specific mutations affect melanin synthesis and receptor function.
Article
Biochemistry & Molecular Biology
Haiwen Zhong, Jian Zhang, Cheng Tan, Junsong Shi, Jie Yang, Gengyuan Cai, Zhenfang Wu, Huaqiang Yang
Summary: In this study, we identified four missense mutations that could affect MC1R protein function for eumelanin synthesis by comparing MC1R gene sequences. Using CRISPR-mediated homologous recombination, we successfully mutated the e allele in Duroc pigs to the dominant E-D1 allele at the MC1R locus, leading to uniform black coat color. The modified pigs carried a heterozygous E-D1/e allele at the MC1R locus and retained the genetic background of Duroc breed. Our work provides a gene editing method for pig coat color manipulation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Veterinary Sciences
Stepan N. Belyakin, Daniil A. Maksimov, Maria A. Pobedintseva, Petr P. Laktionov, Dinara Voronova
Summary: The study found an association between the red sesame coat color in Shiba Inu dogs and specific ASIP gene promoter variants, providing insights for breeders to produce dogs with this rare phenotype.
VETERINARY SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Dong Liang, Pengju Zhao, Jingfang Si, Lingzhao Fang, Erola Pairo-Castineira, Xiaoxiang Hu, Qing Xu, Yali Hou, Yu Gong, Zhengwen Liang, Bing Tian, Huaming Mao, Marnoch Yindee, Md Omar Faruque, Siton Kongvongxay, Souksamlane Khamphoumee, George E. Liu, Dong-Dong Wu, James Stuart F. Barker, Jianlin Han, Yi Zhang
Summary: This study revealed that a 2,809-bp-long LINE-1 insertion in the ASIP gene is the causative mutation for the white coat phenotype in swamp buffalo. This LINE-1 insertion acts as a strong proximal promoter leading to increased transcription of ASIP, which prevents melanocyte maturation and results in absence of pigment in white buffalo skin and hairs. Phylogenetic analyses suggest the white buffalo-specific ASIP allele originated from a recent genetic transposition event. Furthermore, a similar LINE-1 insertion was identified in the cattle ASIP gene, indicating a convergent mechanism of coat color evolution in the Bovini tribe.
MOLECULAR BIOLOGY AND EVOLUTION
(2021)
Article
Chemistry, Analytical
Salvatore Petralia, Antonella Vigilanza, Emanuele Sciuto, Michele Maffia, Antonella Romanini, Sabrina Conoci
Summary: The study investigated single nucleotide polymorphisms in the MC1R gene using a miniaturized silicon-based microarray-chip, showing good sensitivity and high confidence level, paving the way for future development of portable genetic assays.
SENSORS AND ACTUATORS B-CHEMICAL
(2021)
Article
Agriculture, Dairy & Animal Science
D. Guan, A. Martinez, M. G. Luigi-Sierra, J. Delgado, V Landi, A. Castello, J. Fernandez Alvarez, X. Such, J. Jordana, M. Amills
Summary: Artificial selection plays a major role in altering the genetic composition of livestock populations, with identifying genes under selection providing insight into their effects on phenotypic variation. A study on Murciano-Granadina goats identified 77 candidate genomic regions/SNPs, with significant selective sweeps on multiple chromosomes. RNA-Seq data revealed differential expression of 6414 genes during lactation, with 183 genes overlapping with selective sweeps related to various metabolic and developmental functions. The MC1R gene polymorphism was found to be the main determinant of black and brown colorations in these goats.
Article
Agriculture, Dairy & Animal Science
Anna Koseniuk, Grzegorz Smolucha, Malgorzata Natonek-Wisniewska, Anna Radko, Dominika Rubis
Summary: In this study, the researchers aimed to differentiate wild boars from domestic pigs by analyzing the polymorphisms within the MC1R and NR6A1 genes. They used PCR-RFLP and Real-time PCR techniques to study samples from wild boars in Poland and five pig breeds. The results showed that the NR6A1 g.748C > T variation is an effective marker for distinguishing between wild boars and domestic pigs. The study also revealed admixture between the two genomes using population genetics software.
Article
Agriculture, Dairy & Animal Science
K. M. Venkatesh, Chinmoy Mishra, Sukanta Kumar Pradhan, Kumaresh Behera, Smruti Ranjan Mishra, Gangadhar Nayak
Summary: Climate change has a negative impact on the productivity and reproduction of goats. Understanding the relationship between heat stress and genes related to climate resilience is important. Melanism variation in goats affects thermoregulation and physiological responses that are altered due to heat stress. This study investigates the association between the coat color gene (MC1R) and heat stress characteristics in goats.
TROPICAL ANIMAL HEALTH AND PRODUCTION
(2023)
Review
Biology
Devi Stuart-Fox, Anne Aulsebrook, Katrina J. Rankin, Caroline M. Dong, Claire A. McLean
Summary: Research on colour polymorphic species, particularly in lizards, reveals both convergent and divergent traits in relation to behaviour, physiology, and life history. Future directions in this field include exploring the genetic basis of convergent phenotypes and the role of environmental variation in maintaining polymorphism. This active area of research continues to offer valuable insights for evolutionary biologists.
BIOLOGICAL REVIEWS
(2021)
Article
Agriculture, Dairy & Animal Science
Yekai Fan, Xianwen Wu, Yamin Li, Haiyin Han, Yifan Zhang, Junqi Yang, Yufang Liu
Summary: MC1R gene's 5'-flanking sequence in Taihang chickens was sequenced, revealing several SNPs that were significantly associated with feather color and egg production. Functional experiments showed that these SNPs impacted the transcriptional activity and expression of MC1R through the regulatory effect of transcription factor ZEB1. This study provides new insights into the molecular mechanisms of feather color formation and MC1R transcriptional regulation in Taihang chickens.
Article
Agriculture, Dairy & Animal Science
A. Zsolnai, I Egerszegi, L. Rozsa, I Anton
Summary: The study analyzed the genome of Racka sheep using Geneseek Ovine SNP50 BeadChip, revealing genetic differences between Black and White Racka. Differences were also observed in the number of Runs of Homozygosity and inbreeding coefficients. The findings help recognize Racka as a unique genetic resource among sheep.
Article
Medicine, General & Internal
Vincenzo Russo, Erika Parente, Angelo Comune, Nunzia Laezza, Anna Rago, Paolo Golino, Gerardo Nigro, Michele Brignole
Summary: This study compared the positivity rate and type of responses in patients with classical and non-classical vasovagal syncope (VVS) using NTG-potentiated HUTT. The results showed that the positivity rate of HUTT was significantly higher in patients with classical VVS compared to those with non-classical VVS. Non-classical VVS patients were more likely to have a cardioinhibitory response and a history of traumatic syncope. Male sex, classical VVS, history of traumatic syncope, and use of diuretics were independent predictors of HUTT positivity.
EUROPEAN JOURNAL OF INTERNAL MEDICINE
(2023)
Article
Engineering, Biomedical
Pietro Palmisano, Federico Guerra, Vittorio Aspromonte, Gabriele Dell'Era, Pier Luigi Pellegrino, Mattia Laffi, Carlo Uran, Silvana De Bonis, Michele Accogli, Antonio Dello Russo, Giuseppe Patti, Francesco Santoro, Antonella Torriglia, Gerardo Nigro, Antonio Bisignani, Giovanni Coluccia, Giulia Stronati, Vincenzo Russo, Ernesto Ammendola
Summary: The clinical use of implantable loop recorder (ILR) in elderly patients with recurrent, traumatic, unexplained syncope is still limited. In this specific patient population, there is a lack of data on the actual risk of traumatic syncope recurrence during ILR monitoring. This prospective registry study aimed to assess the risk of traumatic and non-traumatic syncopal recurrences during ILR observation. The findings demonstrate that ILR monitoring is effective and safe in patients with unexplained, recurrent, traumatic syncope. Remote monitoring significantly reduces the time to diagnosis and significantly reduces the risk of syncope recurrence, including both traumatic and non-traumatic syncope.
EXPERT REVIEW OF MEDICAL DEVICES
(2023)
Review
Environmental Sciences
Vincenzo Russo, Luigi Cante, Egidio Imbalzano, Pierpaolo Di Micco, Roberta Bottino, Andreina Carbone, Antonello D'Andrea
Summary: COVID-19 has caused a devastating epidemic and posed a challenge to healthcare systems worldwide. Italy, one of the worst affected countries, implemented strict measures such as national lockdown and home quarantine to contain the spread. The Italian healthcare system also had to reorganize rapidly to manage COVID-19 patients.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2023)
Article
Cardiac & Cardiovascular Systems
Vincenzo Russo, Erika Parente, Marco Tomaino, Angelo Comune, Antonella Sabatini, Nunzia Laezza, Domenico Carretta, Gerardo Nigro, Anna Rago, Paolo Golino, Michele Brignole
Summary: This study compared the effectiveness of the traditional nitroglycerin head-up tilt test (HUTT) and a shorter duration fast protocol in diagnosing cases of hypotension and bradycardia. The results showed that the fast protocol had a similar positivity rate and hemodynamic response distribution compared to the traditional protocol. Therefore, the fast protocol can be used as an alternative to the traditional protocol.
EUROPEAN HEART JOURNAL
(2023)
Article
Cardiac & Cardiovascular Systems
Antonello D'Andrea, Federica Ilardi, Stefano Palermi, Lucia Riegler, Tiziana Miele, Francesco Giallauria, Michele D'Alto, Vincenzo Russo, Gennaro Cice
Summary: Heart failure (HF) is diagnosed based on clinical history, symptoms, physical examination, electrocardiogram findings, and natriuretic peptides' values. Echocardiography plays an essential role in supporting HF diagnosis, guiding therapeutic decision-making, and monitoring response to therapy. Technological advancements in imaging techniques, such as cardiac magnetic resonance and myocardial scintigraphy, have improved our understanding and management of HF.
EUROPEAN HEART JOURNAL SUPPLEMENTS
(2023)
Article
Pharmacology & Pharmacy
Emilio Attena, Alfredo Caturano, Anna Annunziata, Alberto Enrico Maraolo, Annunziata De Rosa, Francesco Maria Fusco, Geza Halasz, Valeria Dall'Ospedale, Maddalena Conte, Valentina Parisi, Raffaele Galiero, Ferdinando Carlo Sasso, Giuseppe Fiorentino, Vincenzo Russo
Summary: Remdesivir treatment is associated with reduced risk of severe acute respiratory distress syndrome (ARDS) and mortality among COVID-19 patients, despite the occurrence of bradycardia.
EUROPEAN JOURNAL OF CLINICAL PHARMACOLOGY
(2023)
Review
Medicine, General & Internal
Vincenzo Russo, Antonio Capolongo, Roberta Bottino, Andreina Carbone, Alberto Palladino, Biagio Liccardo, Gerardo Nigro, Michal Marchel, Paolo Golino, Antonello D'Andrea
Summary: Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy in adults and is associated with cardiac involvement in 80% of cases. Echocardiography is recommended at the time of diagnosis and periodic reevaluation, and its findings play a prognostic role in predicting cardiac arrhythmias and sudden death in DM1 patients.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Biochemistry & Molecular Biology
Luigi Falco, Viviana Tessitore, Giovanni Ciccarelli, Marco Malvezzi, Antonello D'Andrea, Egidio Imbalzano, Paolo Golino, Vincenzo Russo
Summary: Thrombosis-related diseases are a major cause of illness and death, despite advances in pharmacologic therapy. Oxidative stress plays a crucial role in thrombosis pathophysiology. Anticoagulant and antiplatelet drugs used in the management of these diseases have pleiotropic effects, including antioxidant effects. This review aims to summarize the current evidence on the antioxidant effects of oral antithrombotic therapies in patients with atherosclerotic disease and atrial fibrillation.
Article
Cardiac & Cardiovascular Systems
Vincenzo Russo, Anna Rago, Nicola Grimaldi, Raffaele Chianese, Aniello Viggiano, Giuliano D'Alterio, Diego Colonna, Agostino Mattera Iacono, Andrea Antonio Papa, Andrea Spadaro Guerra, Alessio Gargaro, Antonio Rapacciuolo, Berardo Sarubbi, Antonio D'Onofrio, Gerardo Nigro
Summary: This study evaluated the effect of remote monitoring (RM) in patients with unexplained syncope, and found that compared to regular in-office follow-up visits, RM increased the chance of detecting clinically relevant arrhythmias.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Sara Hana Weisz, Emilio Attena, Alfredo Caturano, Anna Annunziata, Geza Halasz, Maddalena Conte, Valentina Parisi, Laura Severino, Ferdinando Carlo Sasso, Giuseppe Fiorentino, Sergio Severino, Vincenzo Russo
JOURNAL OF ELECTROCARDIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Vincenzo Russo, Simona Covino, Valentina De Pasquale, Erika Parente, Angelo Comune, Anna Rago, Andrea Antonio Papa, Ernesto Ammendola, Andrea Spadaro Guerra, Paola Napoli, Paolo Golino, Gerardo Nigro
Summary: This study investigated the predictors of false-positive arrhythmic alerts in patients with unexplained syncope who were implanted with an implantable cardiac monitor (ICM) and followed by a remote monitoring system. The presence of premature ventricular complexes (PVCs) on the resting electrocardiogram was found to be the only clinical characteristic associated with an increased risk of false-positive alerts. Other device-related variables, such as a low-frequency filter set at 0.05 Hz and the R-wave amplitude, were also associated with the occurrence of false-positive alerts.
PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY
(2023)
Article
Medicine, General & Internal
Martina Nesti, Vincenzo Russo, Zefferino Palama, Luca Panchetti, Silvia Garibaldi, Umberto Startari, Gianluca Mirizzi, Marcello Piacenti, Andrea Rossi, Luigi Sciarra
Summary: The subcutaneous implantable cardioverter-defibrillator (S-ICD) can positively impact the management of ICD patients by reducing anxiety and depression, improving social and professional life, and promoting compliance with medical treatment.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Alfredo Caturano, Gaetana Albanese, Anna Di Martino, Carmine Coppola, Vincenzo Russo, Raffaele Galiero, Luca Rinaldi, Marcellino Monda, Raffaele Marfella, Ferdinando Carlo Sasso, Teresa Salvatore, Shaker A. Mousa
Summary: This study suggests that FLI>66 and pre-OLT smoking predict cardiovascular risk in adult OLT recipients.
Review
Biology
Vincenzo Russo, Luigi Falco, Viviana Tessitore, Alfredo Mauriello, Dario Catapano, Nicola Napolitano, Moiz Tariq, Alfredo Caturano, Giovanni Ciccarelli, Antonello D'Andrea, Antonio Giordano
Summary: Optimizing anticoagulation therapy is crucial for patients with malignant tumors due to the high incidence of venous thromboembolism (VTE), which is the second leading cause of death in this population. Cancer significantly increases the risk of thrombosis and bleeding, making the management of cancer-associated VTE complex. This review highlights the anti-inflammatory and anticancer effects of DOACs and LWMHs.
Review
Biochemistry & Molecular Biology
Alfredo Caturano, Margherita D'Angelo, Andrea Mormone, Vincenzo Russo, Maria Pina Mollica, Teresa Salvatore, Raffaele Galiero, Luca Rinaldi, Erica Vetrano, Raffaele Marfella, Marcellino Monda, Antonio Giordano, Ferdinando Carlo Sasso
Summary: Oxidative stress plays a critical role in the development and progression of diabetes and its associated complications. The imbalance between reactive oxygen species (ROS) production and the body's antioxidant defense mechanisms leads to cellular damage and dysfunction. By understanding and addressing oxidative stress, it may be possible to alleviate the burden of diabetes and improve patient outcomes.
CURRENT ISSUES IN MOLECULAR BIOLOGY
(2023)