Article
Parasitology
Arzuv Charyyeva, Ulfet Cetinkaya, Bora Ozkan, Serkan Sahin, Nermin Yaprak, Izzet Sahin, Vyacheslav Yurchenko, Alexei Yu Kostygov
Summary: This study characterized clinical samples from Syrian and Turkish patients with cutaneous leishmaniasis using ITS1 sequences, and found that Leishmania tropica exhibits a complex phylogeographic pattern. Some haplotypes are widespread across endemic countries while others are restricted to specific regions.
Article
Microbiology
Claudia Romeo, Giovanni Parisio, Federico Scali, Matteo Tonni, Giovanni Santucci, Antonio M. Maisano, Ilaria Barbieri, M. Beatrice Boniotti, Tomasz Stadejek, G. Loris Alborali
Summary: PRRS is a major disease in pigs worldwide, causing significant economic losses. The high mutation rate and low cross-protection between strains make it difficult to control. This study in Italian pig nurseries demonstrates that strict biosecurity measures are crucial in limiting the spread of PRRSV and minimizing losses.
VETERINARY MICROBIOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Joe M. M. McCord, Bifeng Gao, Brooks M. M. Hybertson
Summary: Nrf2 is a crucial transcription factor that regulates over 2000 genes. Its activation and deactivation involve a complex network of control points, allowing flexibility in its gene expression profile. Understanding and targeting multiple control points in the Nrf2 pathway, compared to the traditional one-drug, one-target approach, may have advantages in modulating its activity.
Article
Genetics & Heredity
Bilian Yao, Qi Xu, Xinxin Zhang, Yue Han
Summary: This study reveals the association between UGT1A1 variations and HBV infection outcomes. The findings suggest that studying UGT1A1 variations can provide insights for the prognosis of hepatitis B virus infection.
FRONTIERS IN GENETICS
(2023)
Article
Biology
C. J. Kelly, Reid K. Couch, Vivian T. Ha, Camille M. Bodart, Judy Wu, Sydney Huff, Nicole T. Herrel, Hyunsung D. Kim, Azaad O. Zimmermann, Jessica Shattuck, Yu-Chen Pan, Matt Kaeberlein, Anthony S. Grillo
Summary: Mice lacking Complex I subunit NDUFS4 exhibit mitochondrial dysfunction and the abnormal iron homeostasis may contribute to the progression of Leigh Syndrome and other mitochondrial disorders.
Article
Psychology, Clinical
Ania M. Fiksinski, Tracy Heung, Maria Corral, Elemi J. Breetvelt, Gregory Costain, Christian R. Marshall, Rene S. Kahn, Jacob A. S. Vorstman, Anne S. Bassett
Summary: This study investigated the impact of parental scores, a high-impact variant, and schizophrenia on neurobehavioral phenotypes in psychiatric disorders. The findings revealed significant impairments in cognitive measures due to the 22q11.2 deletion compared to parental scores, with the strongest effects on PIQ. Additionally, there were further decrements in those with schizophrenia, suggesting shared genetic variation plays a significant role in certain phenotypes.
PSYCHOLOGICAL MEDICINE
(2022)
Editorial Material
Rheumatology
Paula S. Ramos
Summary: Genetic variation plays a crucial role in immune cell function. An in-depth analysis of genetic associations with immune cell traits sheds light on the complex regulation of immune cells, identifies variants influencing immune traits and autoimmune disease risk simultaneously, and suggests specific therapeutic targets for these diseases.
NATURE REVIEWS RHEUMATOLOGY
(2021)
Review
Genetics & Heredity
Monika Stefaniuk-Szmukier, Katarzyna Piorkowska, Katarzyna Ropka-Molik
Summary: Equine metabolic syndrome (EMS) is an important issue in modern veterinary medicine, linked to the painful hoof laminitis. We have summarized available information on the genetic background, environmental factors, diagnosis, treatment, and management of EMS for both scientific and practical purposes. Clinical presentation in horses includes obesity, lameness, and insulin dysregulation, with ongoing research in regenerative medicine for promising therapies.
Article
Biology
Pengju Zhao, Lihong Gu, Yahui Gao, Zhangyuan Pan, Lei Liu, Xingzheng Li, Huaijun Zhou, Dongyou Yu, Xinyan Han, Lichun Qian, George E. Liu, Lingzhao Fang, Zhengguang Wang
Summary: This study found that transposable elements (TEs), particularly young short interspersed nuclear elements (SINEs), play important roles in genetic polymorphisms, chromatin architecture, gene regulatory networks, and genomic evolution in pigs. Silencing of young SINEs was observed through histone modifications, DNA methylation, and decreased accessibility, but some active young SINE transcripts showed tissue-specific expression. The presence of population-specific dimorphic SINEs suggested their involvement in local adaptation, and these SINEs were found to be associated with candidate genes related to complex traits in pigs.
COMMUNICATIONS BIOLOGY
(2023)
Article
Genetics & Heredity
Wei-Hui Shi, Mu-Jin Ye, Song-Chang Chen, Jun-Yu Zhang, Yi-Yao Chen, Zhi-Yang Zhou, Ning-Xin Qin, Xuan-You Zhou, Nai-Xin Xu, Zi-Ru Jiang, Jing Lin, He-Feng Huang, Chen-Ming Xu
Summary: This study focused on prenatal diagnosis for Alport syndrome patients through genetic testing. Prenatal diagnoses were successful in identifying affected fetuses and healthy ones. The study also highlighted the importance of proteinuria monitoring during pregnancy in Alport syndrome patients.
FRONTIERS IN GENETICS
(2021)
Review
Veterinary Sciences
Yangli Pei, Chenghong Lin, Hua Li, Zheng Feng
Summary: This article provides an overview of the basic infection process, symptoms, immune mechanisms, noncoding RNA, and alternative splicing in PRRSV infection. It emphasizes the significant role of genetic background in susceptibility and resistance to PRRSV and its implications for individual treatment options.
FRONTIERS IN VETERINARY SCIENCE
(2023)
Review
Cardiac & Cardiovascular Systems
Byambaa Enkhmaa, Lars Berglund
Summary: An elevated level of lipoprotein(a) is a genetically regulated risk factor for cardiovascular disease, but non-genetic factors may also influence its levels. Diet, physical activity, hormones, and certain pathological conditions can all impact lipoprotein(a) levels.
Editorial Material
Public, Environmental & Occupational Health
May C. van Schalkwyk, Mark Petticrew, Rebecca Cassidy, Peter Adams, Martin McKee, Jennifer Reynolds, Jim Orford
Summary: Although gambling is often seen as a harmless leisure activity in the UK, it is increasingly recognized as a public health concern. However, there is currently a lack of a comprehensive public health approach in the UK's gambling policy system, despite the opportunity for change through the government's review of the Gambling Act 2005.
LANCET PUBLIC HEALTH
(2021)
Article
Medical Laboratory Technology
Liangjie Guo, Mengting Zhang, Yue Gao, Litao Qin, Hailan Xia, Lin Liu, Hongdan Wang
Summary: A pedigree with two daughters born with characteristic signs of Kabuki syndrome is reported. Genetic studies identified a novel de novo KMT2D variant as the cause. It is suspected that one of the parents has gonadal mosaicism. Haplotype construction and clone sequencing analysis indicated that the mother carried the pathogenic mutation.
CLINICA CHIMICA ACTA
(2022)
Article
Genetics & Heredity
Leilei Gu, Yue Han, Donghua Zhang, Qiming Gong, Xinxin Zhang
Summary: The study utilized genetic testing of UGT1A1 to facilitate the diagnosis of Gilbert syndrome and discovered the similar pathogenic variant spectrum in the Chinese population compared to other Asian populations. These findings are significant for the clinical diagnosis of Gilbert syndrome and provide valuable insights for further research on novel pathogenic variants.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)