Article
Biotechnology & Applied Microbiology
Colin T. Waters, Stephen S. Gisselbrecht, Yuliya A. Sytnikova, Tiziana M. Cafarelli, David E. Hill, Martha L. Bulyk
Summary: Researchers developed Quantitative enhancer-FACS-Seq to quantify enhancer activities in Drosophila melanogaster embryos and investigated the contributions of DNA binding motifs of four transcription factors to the enhancer activities. They discovered a range of epistatic interactions among the motifs and emphasized the importance of studying regulatory consequences of TF binding motifs in combination across enhancer contexts.
Article
Cell Biology
Bao Wang, Luzhang Ji, Qian Bian
Summary: The study found that Special AT-rich sequence binding protein 1 (SATB1) acts as a global chromatin loop organizer in T cells. Depletion of SATB1 leads to dys-regulation of genes involved in T cell activation and alterations in 3D genome architecture at multiple levels. SATB1 extensively colocalizes with CTCF throughout the genome and contributes to 3D genome organization by constraining chromatin topology surrounding CTCF-binding sites.
Article
Biochemistry & Molecular Biology
Yi Xiang See, Kaijing Chen, Melissa J. Fullwood
Summary: The MYC oncogene is frequently dysregulated in various cancer cell types, making it an attractive target for cancer therapy. This study found that MYC overexpression leads to MYC binding at super-enhancers and alters the chromatin landscape of the cancer genome. These findings have implications for understanding and targeting MYC-driven cancers.
Article
Biochemistry & Molecular Biology
Bo Xu, Can Zhang, Ao Jiang, Xianhong Zhang, Fenfei Liang, Xueqing Wang, Danni Li, Chenglong Liu, Xiaomei Liu, Jing Xia, Yang Li, Yirong Wang, Zelan Yang, Jia Chen, Yu Zhou, Liang Chen, Hui Sun
Summary: This study reveals that the interaction between O-GlcNAc transferase (OGT) and histone methyltransferase Dot1L facilitates OGT-dependent histone O-GlcNAcylation. Moreover, depletion of Dot1L decreases the levels of OGT associated with chromatin and affects gene transcription regulation.
JOURNAL OF BIOLOGICAL CHEMISTRY
(2022)
Article
Infectious Diseases
Alicja E. Grzegorzewska, Adrianna Mostowska, Monika K. Swiderska, Wojciech Marcinkowski, Ireneusz Stolarek, Marek Figlerowicz, Pawel P. Jagodzinski
Summary: In haemodialysis patients, the association of rs368234815 with spontaneous HCV clearance is better than that documented for other IFNL3/IFNL4 polymorphisms only in the additive mode of inheritance. However, identifying the homozygosity in the variant G allele of rs368234815 means a more potent prediction of persistent HCV infection in haemodialysis subjects than observed in the case of the variant homozygosity of other tested IFNL3/IFNL4 polymorphisms.
BMC INFECTIOUS DISEASES
(2021)
Article
Gastroenterology & Hepatology
Alicja Grzegorzewska, Wojciech Marcinkowski, Wojciech Warchol, Adrianna Mostowska, Pawel P. Jagodzinski
Summary: Polymorphisms in the IFNL3 gene, particularly rs4803217 and rs12980275, are associated with the natural consequences of HBV and HCV infection. The GG genotype of IFNL3 rs4803217 is linked to natural HCV clearance but does not affect the self-limitation of HBV exposure or responsiveness to HBV vaccination. Plasma IFN-A3 levels are not directly influenced by these polymorphisms, but are related to HBV/HCV serum markers and anti-HBs titers.
Article
Radiology, Nuclear Medicine & Medical Imaging
Hang Chen, Malte L. Warncke, Kai Muellerleile, Dennis Saering, Antonia Beitzen-Heineke, Anna Kisters, Monika Swiderska, Ersin Cavus, Charlotte M. Jahnke, Gerhard Adam, Gunnar K. Lund, Enver Tahir
Summary: This study found that the cardiac function of triathletes changed after endurance races, with different ventricular and atrial chambers being affected to varying degrees. The combined use of strain parameters may provide a better characterization of ventricular and atrial function in endurance athletes.
EUROPEAN RADIOLOGY
(2022)
Article
Multidisciplinary Sciences
Alicja E. Grzegorzewska, Kamila Ostromecka, Monika K. Swiderska, Paulina Adamska, Adrianna Mostowska, Pawel P. Jagodzinski
Summary: This study investigated the association between different single nucleotide variants of the PON1 gene and cardiovascular mortality in hemodialysis patients, particularly in smokers. Specific genotypes and alleles were found to be associated with different types of deaths in smokers, non-smokers, diabetic, and non-diabetic individuals. These findings provide insights for identifying individuals at higher risk for cardiovascular mortality and the need for preventive measures.
SCIENTIFIC REPORTS
(2021)
Article
Biochemistry & Molecular Biology
Justyna Dabrowska, Barbara Biedziak, Anna Szponar-Zurowska, Margareta Budner, Pawel P. Jagodzinski, Rafal Ploski, Adrianna Mostowska
Summary: This study investigates the potential role of rare and private variants in the risk of non-syndromic cleft lip with or without cleft palate (ns-CL/P). The results indicate that rare coding variants may contribute to the genetic architecture of ns-CL/P. Additionally, the study suggests a common genetic link between orofacial clefts and dental abnormalities.
MOLECULAR GENETICS AND GENOMICS
(2022)
Article
Genetics & Heredity
Barbara Biedziak, Justyna Dabrowska, Anna Szponar-Zurowska, Ewelina Bukowska-Olech, Aleksander Jamsheer, Ewa Mojs, Jennifer Mulle, Rafal Ploski, Adrianna Mostowska
Summary: This study identified a family with a recurrent 3q29 deletion, which is associated with orofacial clefts. The results suggest that the 3q29 deletion may be the primary risk factor for orofacial clefts, with additional genomic variants, methylation changes, or environmental exposure serving as modifiers of this risk.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Genetics & Heredity
Joanna Michalowska, Ewa Miller-Kasprzak, Agnieszka Seraszek-Jaros, Adrianna Mostowska, Pawel Bogdanski
Summary: This study investigated the association of three GIPR gene SNVs with anthropometric measurements, metabolic parameters, and the risk of excessive body mass and metabolic syndrome. The results found an association between rs11672660 and rs10423928 with metabolic syndrome.
Article
Medicine, General & Internal
Barbara Biedziak, Ewa Firlej, Justyna Dabrowska, Agnieszka Bogdanowicz, Malgorzata Zadurska, Adrianna Mostowska
Summary: This study identified pathogenic and likely pathogenic variants associated with non-syndromic tooth agenesis (ns-TA) through screening coding sequences of candidate genes. Known candidate genes and newly discovered gene variants may play important roles in the development of ns-TA. Further research is needed to confirm the role of these genes and understand the etiology of ns-TA.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Medicine, General & Internal
Monika Katarzyna Swiderska, Adrianna Mostowska, Damian Skrypnik, Pawel Piotr Jagodzinski, Pawel Bogdanski, Alicja Ewa Grzegorzewska
Summary: This study found that patients undergoing hemodialysis have an increased risk of mortality compared to the general population. Certain single nucleotide variants (SNVs) involved in glucose and lipid metabolism were associated with mortality risk in these patients. However, the circulating levels of tested proteins did not affect patient survival.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Genetics & Heredity
Anna Samelak-Czajka, Pawel Wojciechowski, Malgorzata Marszalek-Zenczak, Marek Figlerowicz, Agnieszka Zmienko
Summary: MicroRNAs (miRNAs) regulate gene expression through the RNA interference mechanism. Conserved MIRs are involved in developmental and physiological processes, while nonconserved MIRs participate in stress responses. Copy number variations of Arabidopsis MIRs are related to their age, function, and genomic localization.
FUNCTIONAL & INTEGRATIVE GENOMICS
(2023)
Article
Biochemistry & Molecular Biology
Lukasz Ciecierski, Ireneusz Stolarek, Marek Figlerowicz
Summary: Archeogenomics is a fast-growing interdisciplinary research field focused on ancient DNA analysis. Its integration with genomic, archaeological, and anthropological data allows for a comprehensive understanding of human history. The Human AGEs web server provides spatiotemporal visualizations of these data, allowing users to customize their display for further analysis. The server can be accessed at https://archeogenomics.eu/.
NUCLEIC ACIDS RESEARCH
(2023)
Article
Medicine, General & Internal
Justyna Dabrowska, Barbara Biedziak, Agnieszka Bogdanowicz, Adrianna Mostowska
Summary: This study aimed to detect low-frequency variants implicated in the aetiology of ns-CP in the Polish population. Through screening coding regions of 423 genes associated with orofacial cleft anomalies and/or facial development, eight novel and four known rare variants that may influence ns-CP risk were identified. Seven of these alterations were located in novel candidate genes for ns-CP, while the remaining risk variants were found within genes previously linked to ns-CP.
JOURNAL OF CLINICAL MEDICINE
(2023)