Article
Genetics & Heredity
Pascale Kleinfinger, Armelle Luscan, Lea Descourvieres, Daniela Buzas, Aicha Boughalem, Stephane Serero, Mylene Valduga, Detlef Trost, Jean-Marc Costa, Alexandre J. Vivanti, Laurence Lohmann
Summary: This study describes the experience of using noninvasive prenatal testing (NIPT) in a large population of vanishing twin (VT) pregnancies, and finds that it is an effective screening method for trisomy 21 in surviving fetuses. However, caution should be exercised when interpreting positive results for trisomies 18 and 13, and ultrasound monitoring is preferable over invasive diagnostic testing.
Article
Biotechnology & Applied Microbiology
Lei Gao, Jian Zhang, Xiaoju Ran, Xue Jia, Yiyi Xing, Tianyi Dai, Wei Song, Ze Wu, Wei Sun, Dan Shan
Summary: The study identified over 50 differentially expressed proteins in the urine of Trisomy 21 patients, most of which were associated with embryonic development. TIMP2 and LAMP2 were selected as potential urinary protein biomarkers for Trisomy 21. The combination of TIMP2 and LAMP2 showed promise in differentiating Trisomy 21 fetuses from healthy controls with a sensitivity of 74%, a specificity of 82%, and an AUC value of 0.82.
OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Maria Vincenza Chiantore, Marco Iuliano, Roberta Maria Mongiovi, Fabiola Luzi, Giorgio Mangino, Lorenzo Grimaldi, Luisa Accardi, Gianna Fiorucci, Giovanna Romeo, Paola Di Bonito
Summary: Actinic keratosis (AK) is a precursor to cutaneous squamous cell carcinoma (cSCC) and is highly prevalent in the elderly population, particularly among those with sun-exposed skin. This study identified 43 dysregulated microRNAs (miRNAs) in AK samples and validated the expression of several key miRNAs. Pathway analysis revealed that these miRNAs targeted pathways involved in tumorigenesis, highlighting the importance of miRNA regulation in keratinocyte cancer.
Article
Medicine, Research & Experimental
Yangwu Fang, Chan Wan, Youlu Wen, Ze Wu, Jing Pan, Mei Zhong, Nanbert Zhong
Summary: This study found that differential expression of SVAT-associated lncRNAs-mRNAs in circulating exosomes from autistic children and pregnant women varied throughout different gestational ages. Pathologic pregnancies showed specific correlations between SVAT-lncRNA and SVAT-mRNA expression levels, which may affect fetal brain development.
JOURNAL OF TRANSLATIONAL MEDICINE
(2021)
Article
Multidisciplinary Sciences
Clara Ibel Chamorro, Jesper Eisfeldt, Oliver Willacy, Nikolai Juul, Magdalena Fossum
Summary: MicroRNAs play a crucial role in urinary bladder wound healing, with 13 differentially expressed microRNAs identified in rodent bladders and validated in human cells. Bioinformatic analyses helped identify target molecules and biological pathways involved in tissue repair, with all data made available for other researchers to explore.
SCIENTIFIC REPORTS
(2021)
Article
Medicine, General & Internal
Carl P. Weiner, Mark L. Weiss, Helen Zhou, Argyro Syngelaki, Kypros H. Nicolaides, Yafeng Dong
Summary: The study suggests that maternal plasma RNA screening, tested by qRT-PCR and classified by machine learning, may accurately predict prenatal trisomy 21 (T21) at a lower cost than plasma DNA, providing potential for universal screening.
Article
Biochemistry & Molecular Biology
Bai-Zhong Zhang, Gui-Lei Hu, Liu-Yang Lu, Shuai-Fei Hu, Ya-She Li, Xu Su, Wen-Yang Dong, Cong-Ai Zhen, Run-Qiang Liu, Fan-Bin Kong, Ming-Wang Shi, Xi-Ling Chen
Summary: The study revealed that miRNAs differentially expressed in response to Imidacloprid play a crucial regulatory role in the metabolism of S. miscanthi to Imidacloprid. Twenty-three miRNAs were significantly up-regulated and 54 miRNAs were significantly down-regulated in S. miscanthi nymphs treated with Imidacloprid, and changing the abundance of specific miRNAs can alter the susceptibility of S. miscanthi to Imidacloprid. Additionally, smi-miR-278 and smi-miR-316 are confirmed to be involved in post-transcriptional regulation.
PESTICIDE BIOCHEMISTRY AND PHYSIOLOGY
(2021)
Article
Oncology
Soula Danopoulos, Soumyaroop Bhattacharya, Gail Deutsch, Lina R. Nih, Chris Slaunwhite, Thomas J. Mariani, Denise Al Alam
Summary: This study identifies prenatal lung abnormalities in individuals with Down syndrome (DS), characterized by histopathological abnormalities, reduced cell proliferation, and dysregulated gene expression. These findings contribute to a better understanding of the pathogenesis of lung disease in DS patients.
JOURNAL OF PATHOLOGY
(2021)
Article
Genetics & Heredity
Deeba S. Jairajpuri, Zainab H. Malalla, Naeema Mahmood, Farah Khan, Wassim Y. Almawi
Summary: Recurrent pregnancy loss (RPL) affects 2-3% of pregnancies, lacking effective therapy and reliable biomarkers. This study identified 10 differentially expressed microRNAs in RPL, including 5 novel microRNAs associated with RPL for the first time. The findings provide insight into the role of circulating microRNAs in RPL pathogenesis and their potential as noninvasive diagnostic and prognostic biomarkers.
Article
Clinical Neurology
Yanyan Jiang, Jing Chen, Yunchuang Sun, Fan Li, Luhua Wei, Wei Sun, Jianwen Deng, Yun Yuan, Zhaoxia Wang
Summary: The combination of salivary miR-29a-3p and miR-29c-3p shows potential as a diagnostic biomarker for idiopathic PD. The expression level of miR-29a-3p in PD patients was significantly lower than ET patients, but higher than MSA patients.
FRONTIERS IN NEUROLOGY
(2021)
Article
Medicine, General & Internal
Angelika Buczynska, Iwona Sidorkiewicz, Slawomir Lawicki, Adam Jacek Kretowski, Monika Zbucka-Kretowska
Summary: The study found elevated levels of DNA/RNA oxidative stress damage products and asprosin, as well as decreased levels of vitamin D and A1AT in pregnancies with trisomy 21. Plasma asprosin demonstrated the highest screening utility for T21 prenatal screening.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Plant Sciences
Kejing Fan, Johanna Wong-Bajracharya, Xiao Lin, Meng Ni, Yee-Shan Ku, Man-Wah Li, Chang Fu Tian, Ting-Fung Chan, Hon-Ming Lam
Summary: miRNAs, especially MiR399b, play crucial roles in regulating symbiotic nitrogen fixation in soybean by enhancing Pi uptake, which leads to improved nitrogen fixation and soybean growth. This study identified high-confidence differentially expressed (DE) miRNAs from uninoculated roots, rhizobium-inoculated roots, and nodules of soybean, shedding light on the regulatory mechanisms of miRNAs in SNF.
Article
Integrative & Complementary Medicine
Luyao Liu, Yuxin Sun, Ping Xu, Ying Wang
Summary: The study aimed to evaluate the clinical value of serum miR-124 and miR-200C combined with ultrasound NT in screening Down syndrome (DS) in elderly puerperae during the second trimester. The results showed that miR-124 and miR-200C can serve as auxiliary serum markers for early screening of DS in elderly puerperae during the second trimester.
ALTERNATIVE THERAPIES IN HEALTH AND MEDICINE
(2023)
Article
Medicine, General & Internal
Da Kyung Hong, Ji Eun Park, Kyung Min Kang, Sung Han Shim, So Hyun Shim, You Jung Han, Hee Young Cho, Dong Hyun Cha
Summary: Noninvasive prenatal testing (NIPT) can detect rare autosomal trisomies (RATs) other than common aneuploidies. However, conventional karyotyping is insufficient for evaluating diploid fetuses with uniparental disomy (UPD) due to trisomy rescue. This study aims to describe the need for additional prenatal diagnostic testing for confirming UPD in fetuses diagnosed with RATs via NIPT and its clinical implications.
Article
Genetics & Heredity
Upamanyu Pal, Pinku Halder, Anirban Ray, Sumantra Sarkar, Supratim Dutta, Papiya Ghosh, Sujay Ghosh
Summary: In this study, variations in MCM9 were found to be associated with reduced recombination and nondisjunction of chromosome 21 during meiosis I in a maternal age-independent manner. These variants did not affect the position of chiasma formation. In Silico analyses suggested that some MCM9 variants may alter protein function due to amino acid substitution, as well as identified splice variants in MCM9. It is hypothesized that these polymorphisms predispose women to reduced recombination on chromosome 21 in oocytes at meiosis I, leading to the birth of a child with Down syndrome.
Article
Biochemistry & Molecular Biology
Rusan Catar, Melanie Herse-Naether, Nan Zhu, Philine Wagner, Oskar Wischnewski, Angelika Kusch, Julian Kamhieh-Milz, Andreas Eisenreich, Ursula Rauch, Bjoern Hegner, Harald Heidecke, Angela Kill, Gabriela Riemekasten, Gunnar Kleinau, Patrick Scheerer, Duska Dragun, Aurelie Philippe
Summary: Scleroderma renal crisis is a severe complication of systemic sclerosis, characterized by vascular obstruction and thrombotic microangiopathy. The study suggests that patient-derived antibodies can trigger endothelial cell proliferation and affect cellular activities through various signaling pathways.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Immunology
Rusan Ali Catar, Maria Bartosova, Edyta Kawka, Lei Chen, Iva Marinovic, Conghui Zhang, Hongfan Zhao, Dashan Wu, Daniel Zickler, Honorata Stadnik, Marek Karczewski, Julian Kamhieh-Milz, Achim Jorres, Guido Moll, Claus Peter Schmitt, Janusz Witowski
Summary: Peritoneal dialysis (PD) is a valuable 'home treatment' option, especially during the Coronavirus pandemic. However, the long-term use of PD is limited by unfavorable tissue remodeling in the peritoneal membrane, which is associated with inflammation-induced angiogenesis. This study identifies the crucial contribution of mesothelial cell-derived angiogenic CXC chemokine ligand 1 (CXCL1) to peritoneal angiogenesis in PD, suggesting new therapeutic targets to prolong PD therapy.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Cell Biology
Rusan Catar, Lei Chen, Hongfan Zhao, Dashan Wu, Julian Kamhieh-Milz, Christian Luecht, Daniel Zickler, Alexander W. Krug, Christian G. Ziegler, Henning Morawietz, Janusz Witowski
Summary: Atherosclerotic artery disease is a major global cause of death and healthcare burden. This study analyzes the effects of native LDL and oxidized LDL on the expression of their receptors in endothelial cells. The results show that native LDL mainly signals through LDLR receptors, while oxidized LDL mainly signals through LOX-1 receptors, and both engage different signaling pathways involving ERK1/2, p38, AP-1, and NF-kappa B transcription factors.
Article
Biochemistry & Molecular Biology
Aurelie Philippe, Gunnar Kleinau, Jason Jannis Gruner, Sumin Wu, Daniel Postpieszala, David Speck, Harald Heidecke, Simon J. Dowell, Gabriela Riemekasten, Peter W. Hildebrand, Julian Kamhieh-Milz, Rusan Catar, Michal Szczepek, Duska Dragun, Patrick Scheerer
Summary: This study investigates the effects of AT(1)R-Abs on G-protein signaling and cell proliferation, as well as the involvement of extracellular receptor loops. The results show that AT(1)R-Abs activate G(q/11) signaling, leading to cell proliferation and inhibiting receptor internalization. Additionally, ligand-independent activation of G(i) signaling by AT(1)R has a negative effect on cell proliferation. The study also identifies the involvement of certain extracellular receptor loops in the interaction between AT(1)R and antibodies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Rheumatology
Bjoern Hegner, Tobias Kretzschmar, Nan Zhu, Gunnar Kleinau, Hongfan Zhao, Julian Kamhieh-Milz, Julia Hilger, Ralf Schindler, Patrick Scheerer, Gabriela Riemekasten, Aurelie Philippe, Rusan Catar
Summary: This study provides experimental evidence that activating autoantibodies may contribute to scleroderma renal crisis (SRC). This effect is likely related to direct receptor stimulation and additional allosteric effects. Novel therapies targeting autoimmune hyperactivation of the angiotensin II type 1 receptor (AT(1)R) and the endothelin-1 type A receptor (ETAR) may improve outcomes in severe cases of SRC.
Article
Immunology
Anja Schloer, Stefan Hirschberg, Ghada Ben Amor, Toni Luise Meister, Prerna Arora, Stefan Poehlmann, Markus Hoffmann, Stephanie Pfaender, Omar Kamal Eddin, Julian Kamhieh-Milz, Katja Hanack
Summary: In this study, camelid heavy-chain-only antibodies (hcAb) were used as tools for novel in vitro diagnostic assays and therapeutic applications. The study found that these antibodies efficiently detect the SARS-CoV-2 spike protein and have neutralizing capacity.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Kristin Franke, Guerkan Bal, Zhuoran Li, Torsten Zuberbier, Magda Babina
Summary: In skin mast cells (skMCs), CREB is rapidly phosphorylated upon SCF-mediated KIT dimerization, which requires intrinsic KIT kinase activity and partly depends on ERK1/2. CREB is a crucial component in skMCs, functioning as an effector of the SCF/KIT axis and orchestrating immediate early gene induction and lifespan.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Dounia Djeghloul, Andrew Dimond, Sherry Cheriyamkunnel, Holger Kramer, Bhavik Patel, Karen Brown, Alex Montoya, Chad Whilding, Yi-Fang Wang, Matthias E. Futschik, Nicolas Veland, Thomas Montavon, Thomas Jenuwein, Matthias Merkenschlager, Amanda G. Fisher
Summary: Recent studies have shown that repressive chromatin machinery, including DNA methyltransferases and polycomb repressor complexes, binds to chromosomes throughout mitosis and their depletion results in increased chromosome size. In this study, the researchers found that enzymes that catalyze H3K9 methylation are also retained on mitotic chromosomes. Mutants lacking H3K9me3 display unusually small and compact mitotic chromosomes, but this phenotype can be rescued by providing exogenous protein lysine methyltransferase or inhibiting Ezh2 activity. These findings highlight the important role of H3K9me3 in maintaining chromosome architecture and epigenetic memory during cell division.
NATURE STRUCTURAL & MOLECULAR BIOLOGY
(2023)
Article
Genetics & Heredity
Tania Barata, Isabel Duarte, Matthias E. Futschik
Summary: Stem cells possess the ability to self-renew and differentiate, making them crucial in processes like development and aging. By comparing multiple stem cell samples, a significant overlap in gene signatures was found, leading to the identification of integrated stemness signatures (ISSs). These ISSs provide a more reliable basis for research by excluding false positives.
Article
Medicine, General & Internal
Dorota Sikorska, Dorota Kaminska, Rusan Catar, Dashan Wu, Hongfan Zhao, Pinchao Wang, Julian Kamhieh-Milz, Miroslaw Banasik, Mariusz Kusztal, Magdalena Cielecka, Michal Zakliczynski, Rafal Rutkowski, Katarzyna Korybalska, Harald Heidecke, Guido Moll, Wlodzimierz Samborski
Summary: Early identification of allograft vasculopathy and elimination of risk factors is important for improving the prognosis of heart transplant recipients. This pilot study used nailfold video-capillaroscopy to evaluate the microcirculation in heart transplant patients and found that abnormal capillaroscopic patterns were associated with traditional cardiovascular risk factors.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Cell Biology
Kristin Franke, Guerkan Bal, Zhuoran Li, Torsten Zuberbier, Magda Babina
Summary: Mast cells are effector cells in allergic and inflammatory diseases, and their biology is regulated by the SCF/KIT axis. Recent research has identified RHEX as a heavily phosphorylated protein in MCs, but its function remains unclear. This study demonstrates that RHEX acts as a negative regulator of SCF-supported skin MC survival by interfering with KIT signal transduction. The findings suggest that RHEX may have various roles in MC lineage and provide a framework for future research on its involvement in other crucial processes.
Article
Hematology
Julian Kamhieh-Milz, Lei Chen, Claudia Goettsch, Anna Maria Pfefferkorn, Anja Hofmann, Coy Brunssen, Gregor M. Mueller, Thomas Walther, Muhammad Imtiaz Ashraf, Guido Moll, Henning Morawietz, Janusz Witowski, Rusan Catar
Summary: This study analyzed the mechanism by which NOX2 contributes to Ang II-induced ET-1 production in human microvascular endothelial cells. The results showed that high-fat diet increased the expression of Ang II and ET-1 in wild-type mice, but not in Nox2-deficient mice. In vitro experiments revealed that Ang II promoted NOX2 expression through induction of the Oct-1 protein and increased production of superoxide anions. Inhibition of Oct-1 and superoxide attenuated Ang II-induced ET-1 production.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2023)
Article
Virology
Jamie Fagg, Rupert Beale, Matthias E. Futschik, Elena Turek, David Chapman, Susan Halstead, Marc Jones, Joanna Cole-Hamilton, Rory Gunson, Malur Sudhanva, Paul E. Klapper, Harper Vansteenhouse, Sarah Tunkel, Anna Dominiczak, Timothy E. A. Peto, Tom Fowler
Summary: This study demonstrates that swab pooling has high sensitivity and specificity, and high-throughput laboratories are capable of implementing this method immediately, making it an option for rapid upscaling of laboratory capacity during future pandemics.
JOURNAL OF CLINICAL VIROLOGY
(2023)
Article
Infectious Diseases
Olivia Kay, Matthias E. Futschik, Elena Turek, David Chapman, Simon Carr, Malur Sudhanva, Paul E. Klapper, Tony Cox, Michael Hill, Joanna Cole-Hamilton, Peter Marks, Sarah A. Tunkel, Timothy Peto, Lindsey Davies, Tom Fowler
Summary: This study aimed to explore the feasibility of using expectorated saliva (ES) and drooled saliva (DS) for community mass testing. The results showed that ES and DS tests had a high level of concordance with combined throat and nose (CTN) swab-based results. DS showed a significantly higher sensitivity than ES and CTN swab in detecting symptomatic cases. This study demonstrates that saliva-based SARS-CoV-2 RNA testing is highly accurate and can be considered as an alternative to swabbing.
JOURNAL OF CLINICAL VIROLOGY PLUS
(2023)
Article
Allergy
Zhao Wang, Zhuoran Li, Guerkan Bal, Kristin Franke, Torsten Zuberbier, Magda Babina
Summary: MRGPRX2 is a novel receptor that activates mast cells through G protein signaling, leading to granule discharge. Beta-arrestin-1 controls the abundance of MRGPRX2, while beta-arrestin-2 is mainly involved in signal termination.
FRONTIERS IN ALLERGY
(2022)