Article
Plant Sciences
Lorenzo Del Giudice, Christos Bazakos, Michalis F. Vassiliou
Summary: This study sequenced the genome of Moso bamboo and identified candidate genes related to its mechanical properties, providing important genomic resources for the application of bamboo in engineering.
FRONTIERS IN PLANT SCIENCE
(2022)
Article
Medicine, General & Internal
Lisse J. M. Tavernier, Thomas Vanpoucke, Isabelle Schrauwen, Guy Van Camp, Erik Fransen
Summary: Otosclerosis is a common cause of hearing loss in young adults, with a prevalence of 0.3-0.4% in the European population. A recent genome-wide association study identified 15 new risk loci and confirmed the regions of three previously reported candidate genes. This study resequenced seven candidate genes and found that five of them were associated with the disease.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Medicine, General & Internal
Zhi-yuan Li, Qiang Ma, Xing Li, Shui-yuan Yu, Juan Zuo, Chong-jian Wang, Wen-jie Li, Yue Ba, Fang-fang Yu
Summary: This study aimed to investigate the potential associations between the AGTR1 gene polymorphism, methylation, and lipid metabolism in Chinese farmers with hypertension. The results showed a negative correlation between AGTR1 gene methylation and hypertension, while no significant difference was found in the distribution of AGTR1 gene polymorphism.
Article
Endocrinology & Metabolism
Tao Zhang, Lei Xu, Hongdan Zhu, Yuyi Ying, Jinlong Ding, Haigang Ding, Xiaoliang Shi, Yao He, Xin Jin, Guiyu Xia
Summary: Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development and function, characterized by an inability to reach cognitive, emotional, and motor developmental milestones. Variants in the SRRM2 gene have been found to cause NDDs, but the genetic causes of NDD are extremely heterogeneous, presenting challenges in clinical diagnosis.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Genetics & Heredity
Teruaki Tozaki, Aoi Ohnuma, Kotono Nakamura, Kazuki Hano, Masaki Takasu, Yuji Takahashi, Norihisa Tamura, Fumio Sato, Kyo Shimizu, Mio Kikuchi, Taichiro Ishige, Hironaga Kakoi, Kei-ichi Hirota, Natasha A. Hamilton, Shun-ichi Nagata
Summary: In this study, a test for detecting gene editing in horses was developed using amplicon sequencing and next-generation sequencing. The test was able to identify genetically modified racehorses and could also be used to confirm biological parentage and detect horses produced through prohibited reproductive practices.
Article
Genetics & Heredity
Isak Falk, Millie Zhao, Juba Nait Saada, Qi Guo
Summary: Set-based association analyses for rare variants are powerful tools that can solve the power issue in GWAS for rare variants by learning the combination of kernels.
FRONTIERS IN GENETICS
(2023)
Article
Medicine, Research & Experimental
Harald Lahm, Meiwen Jia, Martina Dressen, Felix Wirth, Nazan Puluca, Ralf Gilsbach, Bernard D. Keavney, Julie Cleuziou, Nicole Beck, Olga Bondareva, Elda Dzilic, Melchior Burri, Karl C. Konig, Johannes A. Ziegelmuller, Claudia Abou-Ajram, Irina Neb, Zhong Zhang, Stefanie A. Doppler, Elisa Mastantuono, Peter Lichtner, Gertrud Eckstein, Jurgen Horer, Peter Ewert, James R. Priest, Lutz Hein, Rudiger Lange, Thomas Meitinger, Heather J. Cordell, Bertram Mueller-Myhsok, Markus Krane
Summary: Genetic factors have a significant impact on the development of congenital heart disease (CHD), with specific SNP-carrying genes identified in a genome-wide association study of over 4000 CHD patients and 8000 healthy controls. These genes, including MACROD2, GOSR2, WNT3, and MSX7, play crucial functional roles in heart development during embryonic and newborn stages.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Medicine, General & Internal
Abirami Veluchamy, Harry L. Hebert, Natalie R. van Zuydam, Ewan R. Pearson, Archie Campbell, Caroline Hayward, Weihua Meng, Mark I. McCarthy, David L. H. Bennett, Colin N. A. Palmer, Blair H. Smith
Summary: This genetic association study conducted a meta-analysis of GWASs from three independent cohorts to identify genetic variants associated with NP susceptibility. The study discovered a significant locus on chromosome 12q23.1 and a suggestive variant near 13q14.2 that are related to NP susceptibility.
Article
Biology
Koji M. Nishiguchi, Fuyuki Miya, Yuka Mori, Kosuke Fujita, Masato Akiyama, Takashi Kamatani, Yoshito Koyanagi, Kota Sato, Toru Takigawa, Shinji Ueno, Misato Tsugita, Hiroshi Kunikata, Katarina Cisarova, Jo Nishino, Akira Murakami, Toshiaki Abe, Yukihide Momozawa, Hiroko Terasaki, Yuko Wada, Koh-Hei Sonoda, Carlo Rivolta, Tatsuhiko Tsunoda, Motokazu Tsujikawa, Yasuhiro Ikeda, Toru Nakazawa
Summary: Nishiguchi and colleagues identified three genetic variants within the EYS gene associated with retinitis pigmentosa using a genome-wide association study (GWAS). They demonstrated that one of these variants was pathogenic, able to explain an additional 7.0% of Japanese ARRP cases. Additionally, they found a high frequency variant potentially linked to the development of local genome therapeutics.
COMMUNICATIONS BIOLOGY
(2021)
Review
Immunology
Bruna Kulmann-Leal, Joel Henrique Ellwanger, Jose Artur Bogo Chies
Summary: The genetic background of Brazilians is highly admixed, with Amerindian, African, and European components. The CCR5 Delta 32 allele frequency in Brazil is intermediate and varies across different regions, influenced by migratory history. Understanding the effects of the CCR5 Delta 32 variant on Brazilians is essential for predicting its potential use in pharmacological treatments.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Health Care Sciences & Services
Alaa S. Wahba, Maha E. Ibrahim, Dina M. Abo-elmatty, Eman T. Mehanna
Summary: This study demonstrated that adipokines chemerin and vaspin were elevated in patients with rheumatoid arthritis, while apelin and omentin levels were lower. Specific genetic variants of chemerin, vaspin, and omentin were associated with increased susceptibility to RA.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Cell Biology
Rebekah G. Langston, Alexandra Beilina, Xylena Reed, Alice Kaganovich, Andrew B. Singleton, Cornelis Blauwendraat, J. Raphael Gibbs, Mark R. Cookson
Summary: Studies have found that noncoding variations related to Parkinson's disease (PD) are specifically transmitted through microglia, a type of brain cell, and not by other cell types. Regulatory chromatin regions that control the expression of the LRRK2 gene have been identified in the frontal cortex and substantia nigra of the human brain. These results were confirmed using a human-induced pluripotent stem cell-derived microglia model. The study highlights the importance of considering cell type when evaluating the role of noncoding variations in disease pathogenesis.
SCIENCE TRANSLATIONAL MEDICINE
(2022)
Article
Genetics & Heredity
Xinye Zhang, Tao Zhu, Liang Wang, Xueze Lv, Weifang Yang, Changqing Qu, Haiying Li, Huie Wang, Zhonghua Ning, Lujiang Qu
Summary: This study conducted a genome-wide association study to identify candidate genes associated with white, black, and spotty plumage in domestic ducks. The results showed that two non-synonymous SNPs in MC1R were significantly related to black plumage, while three SNPs in MITF were associated with white plumage. The epistatic effect between MC1R and MITF genes was also observed. These findings highlight the importance of epistasis in plumage color variation in ducks.
Article
Genetics & Heredity
Yingxue Li, Aijun Liu, Jidong Song, Zhiyong Zhang, Qi Zhang
Summary: The study indicates that APLN and APLNR genes are associated with the risk of myocardial infarction, and their contribution is gender-dependent.
Article
Multidisciplinary Sciences
Shihao He, Xiaokuan Hao, Ziqi Liu, Yanru Wang, Junze Zhang, Xilong Wang, Fei Di, Rong Wang, Yuanli Zhao
Summary: This study investigated the DIAPH1 gene mutation in an Asian population and compared the angiographic features of MMD patients with and without the mutation. DIAPH1 gene mutation was detected in 18% of the MMD patients, and there was a significantly higher rate of posterior cerebral artery involvement in the mutation positive group. DIAPH1 gene mutation is not a major genetic risk gene for Asian patients with moyamoya disease but may play an important role in the involvement of posterior cerebral artery.
SCIENTIFIC REPORTS
(2023)
Article
Gastroenterology & Hepatology
Ilaria Barchetta, Carla Lubrano, Flavia Agata Cimini, Sara Dule, Giulia Passarella, Arianna Dellanno, Alberto Di Biasio, Frida Leonetti, Gianfranco Silecchia, Andrea Lenzi, Maria Gisella Cavallo
Summary: This study found a close relationship between NAFLD-related liver fibrosis, lower bone mineral density, and degraded microarchitecture in obese individuals. This suggests potential common pathways underlying liver and bone involvement in obesity and insulin resistance-associated disorders.
HEPATOLOGY INTERNATIONAL
(2023)
Article
Pharmacology & Pharmacy
Maria Manconi, Maryam Rezvani, Maria Letizia Manca, Elvira Escribano-Ferrer, Sara Fais, Germano Orru, Twan Lammers, Fabiano Asunis, Aldo Muntoni, Daniela Spiga, Giorgia De Gioannis
Summary: New intestinal health-promoting biotechnological nanovesicles were created by combining whey, a major environmental pollutant from cheese-making, with phospholipid, sodium hyaluronate, and dextrin. A consolidated and ecofriendly method was used to manufacture the vesicles, which were characterized by small size and negative surface charge. These vesicles were effectively internalized by Caco-2 cells and protected against oxidative stress. The findings suggest the potential of integrating biotechnology, nanomedicine, sustainability principles, and bio-circular economy for intestinal protection and health promotion.
INTERNATIONAL JOURNAL OF PHARMACEUTICS
(2023)
Review
Clinical Neurology
Silvia Riccardi, Raffaele Ferri, Corrado Garbazza, Silvia Miano, Mauro Manconi
Summary: The study systematically reviewed the literature to determine the effectiveness of different drug categories in suppressing PLMS. Dopamine agonists were found to be the most effective, followed by L-dopa and other dopamine agonists. Alpha2delta ligands and opioids also showed moderate effectiveness, while valproate and carbamazepine had no significant effect. There is a lack of sufficient data on other drugs such as clonazepam, perampanel, dypiridamole, and iron supplementation.
JOURNAL OF CLINICAL SLEEP MEDICINE
(2023)
Article
Endocrinology & Metabolism
Ernesto Maddaloni, Lucia Coraggio, Rocco G. Amendolara, Marco G. Baroni, Maria Cavallo, Massimiliano Copetti, Efisio Cossu, Paola D'Angelo, Luca D'Onofrio, Salvatore De Cosmo, Frida Leonetti, Susanna Morano, Lelio Morviducci, Nicola Napoli, Sabrina Prudente, Giuseppe Pugliese, Kyoungmin R. Park, Rury Holman, Vincenzo Trischitta, Raffaella Buzzetti, UMMER Study Diabet Grp
Summary: This study evaluated the possible associations of osteocalcin, osteoprotegerin, and osteopontin with cardiovascular disease (CVD) and diabetic retinopathy (DR) in type 2 diabetes patients. The findings showed that osteocalcin was associated with CVD, while osteoprotegerin and osteopontin were associated with DR.
DIABETES-METABOLISM RESEARCH AND REVIEWS
(2023)
Article
Biochemistry & Molecular Biology
Federica Sentinelli, Ilaria Barchetta, Flavia Agata Cimini, Sara Dule, Diego Bailetti, Efisio Cossu, Arcangelo Barbonetti, Maria Totaro, Olle Melander, Maria Gisella Cavallo, Marco Giorgio Baroni
Summary: Neurotensin (NT) is a small protein that regulates energy balance and functions as both a neurotransmitter in the brain and a gastrointestinal peptide. This study aimed to investigate the genetic regulation of plasma pro-NT levels. Seven sequence variations in the NT gene (NTS) were identified, including a polymorphism (rs2234762) that was more frequent in individuals with lower pro-NT levels. Carriers of the rs2234762 variant had lower pro-NT levels and reduced insulin resistance, independent of metabolic confounders. This suggests that the NTS rs2234762 gene variant may contribute to a more favorable metabolic profile in overweight and obese children.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Flavia Agata Cimini, Antonella Tramutola, Ilaria Barchetta, Valentina Ceccarelli, Elena Gangitano, Simona Lanzillotta, Chiara Lanzillotta, Maria Gisella Cavallo, Eugenio Barone
Summary: BVRA protein levels can change dynamically in response to insulin and are greater in individuals with lower insulin sensitivity, indicating a correlation with insulin resistance and secretion.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Endocrinology & Metabolism
Alessandra Dei Cas, Raffaella Aldigeri, Alessandro Mantovani, Maria Masulli, Luisa Palmisano, Franco Cavalot, Katia Bonomo, Marco Giorgio Baroni, Efisio Cossu, Gisella Cavallo, Flavia Agata Cimini, Raffaella Buzzetti, Carmen Mignogna, Frida Leonetti, Simonetta Bacci, Roberto Trevisan, Mario Luca Morieri, Riccardo Maria Pollis, Giovanni Targher, Saula Vigili de Kreutzenberg
Summary: This observational study aimed to evaluate sex-related differences in cardiovascular disease (CVD) prevalence and risk in adults with type 1 diabetes. The study found that men had a higher prevalence of CVD than women aged 55 years and above, but the prevalence was comparable between the two sexes in those below 55 years of age. In patients without pre-existing CVD, men had a higher 10-year estimated CVD risk than women until the age of 55, but this difference disappeared after that age.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Parasitology
Nonnis Francesca, Tamponi Claudia, Tosciri Gabriele, Manconi Maria, Pudda Flavia, Cabras Pierangela, Dessi Giorgia, Scala Antonio, Varcasia Antonio
Summary: Cardio-pulmonary parasites are prevalent in red foxes in Sardinia, with an overall prevalence rate of 54.9%. The most commonly found parasites are Eucoleus aerophilus, Crenosoma vulpis, and Angiostrongylus vasorum. The increased prevalence of these parasites suggests that red foxes in Sardinia serve as a reservoir host and should be considered in the diagnosis of respiratory distress syndrome in dogs.
PARASITOLOGY RESEARCH
(2023)
Correction
Parasitology
Francesca Nonnis, Claudia Tamponi, Gabriele Tosciri, Maria Manconi, Flavia Pudda, Pierangela Cabras, Giorgia Dessi, Antonio Scala, Antonio Varcasia
PARASITOLOGY RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Yara Salem, Hiba N. Rajha, Suhair Sunoqrot, Alaa M. Hammad, Ines Castangia, Maria Manconi, Maria Letizia Manca, Dana Al Lababidi, Joe A. Touma, Richard G. Maroun, Nicolas Louka
Summary: Exhausted grape seed residues can be transformed into promising cosmetic scrubs capable of releasing antioxidant molecules during exfoliation process, showing good physical stability and no irritation phenomena. This highlights the importance of effectively utilizing agro-industrial by-products for the development of sustainable and zero-waste cosmeceutics.
Article
Neurosciences
Anna Castelnovo, Althea Lividini, Brady A. Riedner, Giulia Avvenuti, Stephanie G. Jones, Silvia Miano, Giulio Tononi, Mauro Manconi, Giulio Bernardi
Summary: The study aimed to characterize the characteristics of individual slow waves, including origin, synchronization, and cortical propagation, between children and adults. The study found that slow waves in children were larger, steeper, and less widespread compared to adults, mainly originating from and spreading over more posterior brain areas. The slow waves of children also tended to involve and originate more from the right hemisphere compared to adults. The analysis of slow waves with high and low synchronization efficiency showed distinct maturation patterns, suggesting different generation and synchronization mechanisms.
Review
Biochemistry & Molecular Biology
Valentina Maria Cambuli, Marco Giorgio Baroni
Summary: This article provides a synthetic overview of research in the treatment of type 1 diabetes, focusing on the development of intelligent insulins and the use of artificial intelligence in automated insulin therapy. It outlines the latest developments in the search for intelligent insulins and the promising advances in the use of artificial intelligence for glucose control. The future of insulin treatment in type 1 diabetes appears promising with the potential for a closed-loop artificial pancreas.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Sara Dule, Ilaria Barchetta, Flavia Agata Cimini, Giulia Passarella, Arianna Dellanno, Tiziana Filardi, Vittorio Venditti, Enrico Bleve, Diego Bailetti, Elisabetta Romagnoli, Susanna Morano, Marco Giorgio Baroni, Maria Gisella Cavallo
Summary: Type 2 diabetes mellitus is associated with increased fracture risk. This study aimed to explore differences in bone alterations between women with type 2 diabetes and controls, and to identify clinical predictors of bone impairment in type 2 diabetes. The results showed that type 2 diabetes patients had a lower normal bone category and their bone status was correlated with high-density lipoprotein cholesterol and vitamin D levels.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Pharmacology & Pharmacy
A. Concistre, L. Petramala, C. L. Pugliano, M. Celi, F. Vinci, E. Assanto, I. Barchetta, E. P. Perrone, S. Rella, F. Iannazzo, A. Angheloni, L. Coraggio, F. Di Rienzo, D. Maggi, F. Circosta, G. Galardo, M. Muscaritoli, C. Letizia
Summary: COVID-19 clinical presentation varies greatly, and identifying high-risk patients is crucial for early treatment and intensive follow-up. This study investigated negative prognostic factors in hospitalized COVID-19 patients.
EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES
(2023)