Article
Genetics & Heredity
Mara Cananzi, Elizabeth Wohler, Antonio Marzollo, Davide Colavito, Jing You, Huie Jing, Silvia Bresolin, Paola Gaio, Renan Martin, Claudia Mescoli, Sangeeta Bade, Jennifer E. Posey, Maurizio Dalle Carbonare, Wesley Tung, Shalini N. Jhangiani, Luca Bosa, Yu Zhang, Joselito Sobreira Filho, Maria Gabelli, Richard Kellermayer, Howard A. Kader, Maria Oliva-Hemker, Giorgio Perilongo, James R. Lupski, Alessandra Biffi, David Valle, Alberta Leon, Nara Lygia de Macena Sobreira, Helen C. Su, Anthony L. Guerrerio
Summary: Rare variants in the IFIH1 gene, linked to reduced MDA5 activity, were found in children with Very Early Onset IBD (VEOIBD), suggesting impaired intestinal viral sensing may play a role in the pathogenesis of IBD.
Article
Biochemistry & Molecular Biology
Keith Al-Hasani, Ishant Khurana, Lina Mariana, Thomas Loudovaris, Scott Maxwell, K. N. Harikrishnan, Jun Okabe, Mark E. Cooper, Assam El-Osta
Summary: This article investigates the loss of insulin-producing beta cells in type 1 diabetes (T1D). Current therapy focuses on transplantation, but transcriptional suppression is refractory to exocrine reactivation. By using the inhibitor GSK126, the researchers found that it can influence chromatin content and transcriptional control, leading to the restoration of insulin gene expression.
SIGNAL TRANSDUCTION AND TARGETED THERAPY
(2022)
Article
Genetics & Heredity
Dagmara Kabzinska, Katarzyna Chabros, Joanna Kaminska, Andrzej Kochanski
Summary: Charcot-Marie-Tooth disorders (CMT) are a highly heterogeneous group of diseases involving over 100 genes, leading to challenges in determining pathogenicity due to the presence of multiple variants in different CMT-associated genes in some patients.
Article
Biochemistry & Molecular Biology
Anca Gabriela Pavel, Danae Stambouli, Gabriela Anton, Ismail Gener, Adrian Preda, Catalin Baston, Constantin Gingu
Summary: This study aimed to determine the cumulative association between four common SNPs and overall prostate cancer risk. The results showed that the rs4054823 polymorphism was significantly associated with prostate cancer risk, and the heterozygous genotype of the rs2735839 polymorphism was more common in the benign prostate hyperplasia group. Logistic regression analysis revealed that carriers of at least one risk allele copy in each particular region had a cumulative odd ratio of 1.42 times.
Article
Genetics & Heredity
Chang Zhang, Qin Qin, Yuanyuan Li, Xiaodong Zheng, Weiwei Chen, Qi Zhen, Bao Li, Wenjun Wang, Liangdan Sun
Summary: The study aims to explore the interaction between ERAP1 and other psoriasis susceptibility gene variants. The results suggest that the interaction between ERAP1 and IFIH1 might affect the development of psoriasis.
FRONTIERS IN GENETICS
(2022)
Review
Immunology
Tianyu Liu, Lei Yang, Xiaolong Lv, Chunjian Zuo, Chenhao Jia, Zelin Yang, Chongqi Fan, Huanwen Chen
Summary: This study provides updated and comprehensive evidence that variants in the IL-17 family genes are significantly associated with susceptibility to cervical cancer, lung cancer, asthma, multiple sclerosis, rheumatoid arthritis, and spondyloarthritis. Bioinformatics analysis suggests that the variants with strong evidence might be located in putative functional regions.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Genetics & Heredity
Maria G. Muniz-Banciella, Guillermo M. Albaiceta, Laura Amado-Rodriguez, Estefania Salgado Del Riego, Ines Lopez Alonso, Cecilia Lopez-Martinez, Paula Martin-Vicente, Marta Garcia-Clemente, Tamara Hermida-Valverde, Ana Enriquez-Rodriguez, Cristina Hernandez-Gonzalez, Elias Cuesta-Llavona, Victoria Alvarez, Juan Gomez, Eliecer Coto
Summary: This study found that the rs1990760 C allele of the IFIH1 gene, associated with early-onset critical COVID-19, had a significantly increased frequency. In addition, two other IFIH1 functional variants were also associated with the severity of COVID-19. The study suggests that IFIH1 gene variants may affect the IFN response and thus the severity of COVID-19.
Article
Genetics & Heredity
Craig Smail, Nicole M. Ferraro, Qin Hui, Matthew G. Durrant, Matthew Aguirre, Yosuke Tanigawa, Marissa R. Keever-Keigher, Abhiram S. Rao, Johanne M. Justesen, Xin Li, Michael J. Gloudemans, Themistocles L. Assimes, Charles Kooperberg, Alexander P. Reiner, Jie Huang, Christopher J. O'Donnell, Yan V. Sun, Manuel A. Rivas, Stephen B. Montgomery
Summary: This study developed a method to integrate the impact of rare variants into polygenic risk scores (PRSs) for complex traits and diseases. By identifying rare variants associated with outlier gene expression, they found that these variants had a significant impact on predicting the risk of obesity and bariatric surgery. This research highlights the importance of considering rare variants in risk assessment for various diseases and traits.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Pharmacology & Pharmacy
James M. Porter, Lea Guerassimoff, Francisco Rafael Castiello, Andre Charette, Maryam Tabrizian
Summary: Islet transplantation is a long-term cure for Type 1 Diabetes (T1D), and the study of INGAP-P variants shows potential for improving the insulin output of transplanted cells. A proof-of-concept study investigated novel molecular variants of INGAP-P and identified four peptide variants with statistically significant enhancements in insulin secretion and gene expression. This study highlights the potential of customized peptides for type 1 diabetes therapy and provides a foundation for future research.
Article
Multidisciplinary Sciences
Peng Huang, Jing-Jing Wu, Jin-Wei Zhang, Yu-Qing Hou, Ping Zhu, Rong Yin, Rong-Bin Yu, Yun Zhang, Ming Yue, Wei Hou
Summary: This study investigates the connection between retinoic acid-inducible gene I-like receptor gene polymorphism and hepatitis C chronicity in the Chinese Han population. It found that DHX58 rs2074158-G allele and IFIH1 rs10930046-C allele are associated with chronic hepatitis C (CHC). The risk of CHC increases with the number of unfavorable genotypes carried by the infected person. IFIH1 rs10930046, DHX58 rs2074158, age, ALT, and AST levels are independent predictors of CHC.
Article
Agriculture, Dairy & Animal Science
Marta Liliane de Vasconcelos, Priscila dos Santos Silva, Henrique Barbosa Hooper, Giovana Krempel Fonseca Merighe, Sandra Aparecida de Oliveira, Joao Alberto Negrao
Summary: This study investigates the cumulative effect of different acute stressors on milk yield in Saanen goats. The results show that cumulative stress increases the expression of genes related to cortisol action, inflammatory response, and antioxidant enzymes in mammary tissue. The acute challenges imposed on stressed goats also lead to changes in physiological and metabolic responses, resulting in lower milk yield and higher somatic cell count in milk. This study provides valuable insights into the impact of stress on milk production in dairy goats.
Article
Agriculture, Dairy & Animal Science
Mackenzie A. Marrella, Fernando H. Biase
Summary: This study suggests that it is not necessary to transform RNA-sequencing data to fit a normal distribution prior to eQTL analysis, and the differential gene expression framework can be used instead. This approach can detect biologically relevant variants that might be missed with data transformation.
JOURNAL OF ANIMAL SCIENCE AND BIOTECHNOLOGY
(2023)
Article
Allergy
Liza Bronner Murrison, Xiaomeng Ren, Kristina Preusse, Hua He, John Kroner, Xiaoting Chen, Seth Jenkins, Elisabet Johansson, Jocelyn M. Biagini, Matthew T. Weirauch, Raphael Kopan, Lisa J. Martin, Gurjit K. Khurana Hershey
Summary: This study found that the combined effects of TSLP genotype and TSLP expression play a role in modulating childhood asthma. Increased TSLP mRNA expression is associated with increased asthma risk, while circulating TSLP is not associated with asthma.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2022)
Article
Biology
Laura Amado-Rodriguez, Estefania Salgado Del Riego, Juan Gomez de Ona, Ines Lopez Alonso, Helena Gil-Pena, Cecilia Lopez-Martinez, Paula Martin-Vicente, Antonio Lopez-Vazquez, Adrian Gonzalez Lopez, Elias Cuesta-Llavona, Raquel Rodriguez-Garcia, Jose Antonio Boga, Marta Elena Alvarez-Arguelles, Juan Mayordomo-Colunga, Jose Ramon Vidal-Castineira, Irene Crespo, Margarita Fernandez, Loreto Criado, Victoria Salvadores, Francisco Jose Jimeno-Demuth, Lluis Blanch, Belen Prieto, Alejandra Fernandez-Fernandez, Carlos Lopez-Larrea, Eliecer Coto, Guillermo M. Albaiceta
Summary: Patients with the IFIH1 rs1990760 TT variant show an attenuated inflammatory response and better outcomes. Dexamethasone may reverse this anti-inflammatory phenotype.
Article
Biochemistry & Molecular Biology
Alejandro Soriano-Sexto, Diana Gallego, Fatima Leal, Natalia Castejon-Fernandez, Rosa Navarrete, Patricia Alcaide, Maria L. Couce, Elena Martin-Hernandez, Pilar Quijada-Fraile, Luis Pena-Quintana, Raquel Yahyaoui, Patricia Correcher, Magdalena Ugarte, Pilar Rodriguez-Pombo, Belen Perez
Summary: This study utilized a personalized multi-omics pipeline and functional genomics to aid in the genetic diagnosis of six unsolved cases. Eight novel variants were identified and their pathogenic effects were confirmed. This highlights the importance of combining different omics technologies and functional analysis in solving challenging clinical cases.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Endocrinology & Metabolism
Marta Fichna, Magdalena Zurawek, Jakub P. Fichna, Marek Ruchala
Summary: The study found that there were 9 upregulated miRNAs and downregulation of miR-509-3p in CD4+ T cells from patients with AD. miR-7977, miR-374a-5p, and miR-1260b were overexpressed in AD patients. miR-7977 was upregulated in patients with coexisting autoimmune conditions and its abundance correlated with the number of autoimmune comorbidities and serum autoantibodies against thyroid peroxidase.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2021)
Article
Medicine, General & Internal
Marta Fichna, Piotr P. Malecki, Boleslaw Gebarski, Helena Gebarska, Marek Ruchala
Summary: This study aimed to assess the burden of autoimmunity in families of individuals with primary adrenal insufficiency (Addison disease). The results showed a considerable prevalence of autoimmune conditions in the relatives of individuals with Addison disease, especially among females and relatives of patients with multiple autoimmune diseases. These findings support the recommendation of active screening for autoimmune disorders among family members of individuals with Addison disease.
INTERNAL MEDICINE JOURNAL
(2022)
Article
Oncology
Julia Paczkowska, Joanna Janiszewska, Adam Ustaszewski, Julia Bein, Marcin Skalski, Agnieszka Dzikiewicz-Krawczyk, Natalia Rozwadowska, Martin-Leo Hansmann, Sylvia Hartmann, Maciej Giefing
Summary: Studies have shown that miRNAs play an important role in classical Hodgkin lymphoma (cHL), leading to the loss of B-cell phenotype and NF-kappa B activation. Furthermore, miRNAs regulate this process by targeting B-cell-related transcription factors and NF-kappa B inhibitors.
Article
Pharmacology & Pharmacy
Marta Elzbieta Kasprzyk, Wojciech Losiewski, Marta Podralska, Marta Kazimierska, Weronika Sura, Agnieszka Dzikiewicz-Krawczyk
Summary: The compound 30666 was found to inhibit cell proliferation, induce apoptosis, decrease MYC levels, and alter IGH enhancer RNA expression in Burkitt lymphoma (BL) and diffuse large B-cell lymphoma (DLBCL) cells. Furthermore, a global decrease of H3K27ac and an increase of H3K4me1 were observed upon 30666 treatment.
EUROPEAN JOURNAL OF PHARMACOLOGY
(2021)
Article
Genetics & Heredity
Lotteke J. Y. M. Ziel-Swier, Yichen Liu, Annika Seitz, Debora de Jong, Jasper Koerts, Bea Rutgers, Rianne Veenstra, Fazlyn R. Abdul Razak, Agnieszka Dzikiewicz-Krawczyk, Anke van den Berg, Joost Kluiver
Summary: The MYC/miR-150/MYB/ZDHHC11 network plays a critical role in the growth of Hodgkin lymphoma (HL) and diffuse large B-cell lymphoma (DLBCL) cells, similar to its role in Burkitt lymphoma (BL) cells. However, the levels of miR-150 appear to have less impact on the growth of HL and DLBCL cells despite effective targeting of ZDHHC11 and MYB.
Article
Biochemistry & Molecular Biology
Melanie Winkle, Mina M. Tayari, Klaas Kok, Gerben Duns, Natalia Grot, Marta Kazimierska, Annika Seitz, Debora Jong, Jasper Koerts, Arjan Diepstra, Agnieszka Dzikiewicz-Krawczyk, Christian Steidl, Joost Kluiver, Anke van den Berg
Summary: This study identified several Myc-induced and Myc-repressed lncRNAs, and found that one of them, KTN1-AS1, plays a critical role in B cell lymphoma. By mediating co-regulation of multiple Myc-target genes and activating key genes involved in cholesterol biosynthesis, KTN1-AS1 supports the growth of lymphoma cells. Therefore, KTN1-AS1 may represent a potential novel therapeutic target in lymphoma.
HUMAN MOLECULAR GENETICS
(2022)
Letter
Dermatology
Karolina Rassek, Katarzyna Izykowska, Magdalena Zurawek, Karina Nowicka, Monika Joks, Karolina Olek-Hrab, Berenika Olszewska, Malgorzata Sokolowskae-Wojdylo, Wojciech Biernat, Roman J. Nowicki, Grzegorz K. Przybylski
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2023)
Article
Health Care Sciences & Services
Anna Paszkowska, Tomasz Kolenda, Kacper Guglas, Joanna Kozlowska-Maslon, Marta Podralska, Anna Teresiak, Renata Blizniak, Agnieszka Dzikiewicz-Krawczyk, Katarzyna Lamperska
Summary: This study investigates the effect of ionizing radiation on the expression of long non-coding RNAs (lncRNAs) in head and neck squamous cell carcinoma (HNSCC) patients. The results show that the expression of lncRNAs is affected by ionization radiation and is associated with pathways important for radiation response and immune response. The potentially presented lncRNAs could be used as biomarkers for personalized radiotherapy in the future.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Bibliography
Oncology
Malgorzata Dawidowska, Agnieszka Dzikiewicz-Krawczyk, Natalia Rozwadowska, Panagiotis Ntziachristos, Joost Kluiver, Anke van den Berg, Reiner Siebert, Maciej Giefing
Article
Biochemistry & Molecular Biology
Tomasz Wozniak, Weronika Sura, Marta Kazimierska, Marta Elzbieta Kasprzyk, Marta Podralska, Agnieszka Dzikiewicz-Krawczyk
Summary: In this study, we developed an online tool called transCRISPR for searching sequence motifs and designing sgRNAs in user-provided genomic regions. The tool provides user-friendly tables and visualizations summarizing the features of identified motifs and designed sgRNAs. Experimental validation showed that sgRNAs designed by transCRISPR efficiently disrupted MYC binding sites and affected the expression of MYC-regulated genes.
NUCLEIC ACIDS RESEARCH
(2023)
Article
Nutrition & Dietetics
Marta Suminska, Rafal Podgorski, Piotr Fichna, Artur Mazur, Marta Fichna
Summary: This study aimed to evaluate the differences in steroid metabolism between children with obesity and those with normal weight, especially in relation to sex and puberty progress. Significant differences were found in the excretion of steroid metabolites between normal weight children and children with obesity, particularly in prepubertal children.
Article
Endocrinology & Metabolism
Marta Fichna, Piotr P. Malecki, Magdalena Zurawek, Katarzyna Furman, Boleslaw Gebarski, Piotr Fichna, Marek Ruchala
Summary: The study aimed to evaluate circulating autoantibodies in first-degree relatives of patients with Addison's disease and determine their correlation with specific genetic risk factors. The findings suggest that carriers of the PTPN22 rs2476601 T allele are at a higher risk of developing autoantibodies to endocrine antigens.
ENDOCRINE CONNECTIONS
(2023)
Article
Oncology
Marta Kazimierska, Marta Podralska, Magdalena Zurawek, Tomasz Wozniak, Marta Elzbieta Kasprzyk, Weronika Sura, Wojciech Losiewski, Iwona Ziolkowska-Suchanek, Joost Kluiver, Anke van den Berg, Natalia Rozwadowska, Agnieszka Dzikiewicz-Krawczyk
Summary: The transcription factor MYC plays a crucial role in the development and maintenance of various types of cancer by binding to specific E-box sequences in the genome to regulate gene expression. Through the use of CRISPR/Cas9 technology and high-throughput screening, this study identified essential MYC-regulated genes involved in pathways associated with cancer development. This research provides a novel approach to explore MYC-dependent vulnerabilities in cancer cells, which is of significant importance.
MOLECULAR ONCOLOGY
(2023)
Article
Endocrinology & Metabolism
Marta Fichna, Magdalena Zurawek, Bartosz Slominski, Marta Suminska, Agata Czarnywojtek, Natalia Rozwadowska, Piotr Fichna, Malgorzata Mysliwiec, Marek Ruchala
Summary: The study revealed an association between BACH2 polymorphism and polyglandular autoimmunity, suggesting that specific variants could identify individuals prone to developing APS.
