Article
Medicine, General & Internal
Antonio Giovanni Versace, Alessandra Bitto, Carmelo Ioppolo, Caterina Oriana Aragona, Daniela La Rosa, William Neal Roberts, Tommaso D'Angelo, Antonella Cinquegrani, Santa Cirmi, Natasha Irrera, Michele Navarra, Salvatore Corrao, Sebastiano Gangemi, Gianluca Bagnato
Summary: The study aimed to investigate the levels of IL-33 and IL-13 in patients with diffuse SSc and interstitial lung disease (SSc-ILD) compared to SSc patients without ILD and healthy controls. The results showed that both IL-13 and IL-33 levels were elevated in SSc patients and were significantly associated with each other. Additionally, higher levels of IL-33 and IL-13 were observed in SSc patients with reduced pulmonary function compared to those with normal lung function. This suggests that the IL-13/IL-33 axis may play a role in the development and severity of SSc-ILD.
FRONTIERS IN MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Catherine A. Brownstein, Richard S. Smith, Lance H. Rodan, Mark P. Gorman, Margaret A. Hojlo, Emily A. Garvey, Jianqiao Li, Kristin Cabral, Joshua J. Bowen, Abhijit S. Rao, Casie A. Genetti, Devon Carroll, Emma A. Deaso, Pankaj B. Agrawal, Jill A. Rosenfeld, Weimin Bi, Jennifer Howe, Dimitri J. Stavropoulos, Adam W. Hansen, Hesham M. Hamoda, Ferne Pinard, Annmarie Caracansi, Christopher A. Walsh, Eugene J. D'Angelo, Alan H. Beggs, Mehdi Zarrei, Richard A. Gibbs, Stephen W. Scherer, David C. Glahn, Joseph Gonzalez-Heydrich
Summary: Mendelian and early-onset severe psychiatric phenotypes often involve genetic variants with large effects, offering opportunities for genetic discoveries and early therapeutic interventions. In this study, a stop-gain mutation in the RCL1 gene was identified in an 18-year-old boy with cognitive decline, leading to the discovery of RCL1 copy number variations in multiple patients with varying neurodevelopmental or psychiatric phenotypes. These findings suggest that dosage variation of RCL1 contributes to a range of neurological and clinical phenotypes.
MOLECULAR PSYCHIATRY
(2021)
Correction
Genetics & Heredity
Erin Rooney Riggs, Erica F. Andersen, Athena M. Cherry, Sibel Kantarci, Hutton Kearney, Ankita Patel, Gordana Raca, Deborah I. Ritter, Sarah T. South, Erik C. Thorland, Daniel Pineda-Alvarez, Swaroop Aradhya, Christa Lese Martin
Summary: A correction to the paper has been published.
GENETICS IN MEDICINE
(2021)
Article
Clinical Neurology
Martina Ricci, Gianpaolo Cicala, Anna Capasso, Giorgia Coratti, Stefania Fiori, Costanza Cutrona, Adele D'Amico, Valeria A. Sansone, Claudio Bruno, Sonia Messina, Tiziana Mongini, Michela Coccia, Gabriele Siciliano, Elena Pegoraro, Riccardo Masson, Massimiliano Filosto, Giacomo P. Comi, Stefania Corti, Dario Ronchi, Lorenzo Maggi, Maria G. D'Angelo, Veria Vacchiano, Chiara Ticci, Lucia Ruggiero, Lorenzo Verriello, Federica S. Ricci, Angela L. Berardinelli, Maria Antonietta Maioli, Matteo Garibaldi, Vincenzo Nigro, Stefano C. Previtali, Maria Carmela Pera, Eduardo Tizzano, Marika Pane, Francesco Danilo Tiziano, Eugenio Mercuri
Summary: This study provides an overview of the clinical phenotypes associated with 4 SMN2 copies. The results show variability in untreated patients, ranging from type II to type IV, with an overall reduction in functional scores as age increases. The risk of losing ambulation is significantly associated with SMA type, and women have a lower risk of losing ambulation compared to men.
ANNALS OF NEUROLOGY
(2023)
Article
Neurosciences
Ali Bani-Fatemi, Christopher Adanty, Nasia Dai, Ariel Graff, Philip Gerretsen, Vincenzo De Luca
Summary: The study did not find a significant association between deletions on chromosome 22 and suicide attempt in patients with schizophrenia. However, CNV studies may provide important insights for further investigation and treatment of neuropsychiatric diseases.
NEUROPSYCHOBIOLOGY
(2021)
Article
Cell Biology
Maoni Guo, San Ming Wang
Summary: A computational approach was developed to identify a prognostic signature of 11 genes in TNBC, which successfully classified TNBC cases into high- and low-risk groups and showed predictive power in multiple datasets. This novel signature provides a better understanding of genome instability in TNBC and can serve as prognostic markers for clinical TNBC management.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Multidisciplinary Sciences
Neyla Al-Akl, Richard Thompson, Abdelilah Arredouani
Summary: This study aimed to assess the relationship between salivary alpha-amylase activity (ssAAa) and the risk of metabolic disorders in Qatari adults. The study found a negative association between ssAAa and obesity and glycemic markers, suggesting a potential beneficial relationship between high ssAAa in saliva and low odds of obesity.
Article
Agriculture, Dairy & Animal Science
K. D. Seibt, M. H. Ghaffari, T. Scheu, C. Koch, H. Sauerwein
Summary: This study investigates the effects of feeding different levels of milk replacer on telomere length shortening and energetic status in heifers during their first year of life. The results show that telomere length decreases with age in calves and that mitochondrial DNA copy number exhibits dynamic changes in early life.
JOURNAL OF DAIRY SCIENCE
(2022)
Article
Immunology
Jean-Claude Lecron, Sandrine Charreau, Jean-Francois Jegou, Nadjet Salhi, Isabelle Petit-Paris, Emmanuel Guignouard, Christophe Burucoa, Laure Favot-Laforge, Charles Bodet, Anne Barra, Vincent Huguier, Jiad Mcheik, Laure Dumoutier, Julien Garnier, Francois-Xavier Bernard, Bernhard Ryffel, Franck Morel
Summary: This study found that the proinflammatory cytokines IL-22 and IL-17 induced by bacterial infection delay the healing process of skin wounds, regardless of the presence of bacteria. This discovery reveals the underlying mechanisms of bacterial infection on wound healing.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Agriculture, Dairy & Animal Science
Yi Bi, Zhiying Wang, Qian Wang, Hongfei Liu, Zhengang Guo, Chuanying Pan, Hong Chen, Haijing Zhu, Lian Wu, Xianyong Lan
Summary: The FecB gene, first identified in Booroola sheep, is a major fertility-related gene. This study found five copy number variations (CNVs) within the FecB gene that are significantly associated with goat morphometric traits. CNV3 was identified as the dominant type, displaying superior phenotypes in litter size and morphometric traits, making it an effective marker for goat breeding. The study also revealed that these CNVs could bind to growth-related transcription factors (TFs) and indirectly affect goat growth development.
Article
Biotechnology & Applied Microbiology
Sam Abujudeh, Sebastian S. Zeki, Meta C. J. van Lanschot, Mark Pusung, Jamie M. J. Weaver, Xiaodun Li, Ayesha Noorani, Andrew J. Metz, Jan Bornschein, Lawrence Bower, Ahmad Miremadi, Rebecca C. Fitzgerald, Edward R. Morrissey, Andy G. Lynch
Summary: In this study, a fully probabilistic method called Conliga is introduced for high-resolution somatic copy number alteration (SCNA) profiling using a low-cost and clinically-relevant assay (FAST-SeqS). The results show that Conliga outperforms other methods in inferring SCNA profiles and is particularly suitable for low tumor purity samples. The study highlights the potential of Conliga to make FAST-SeqS a more clinically valuable assay and provide inexpensive and fast copy number profiling of pre-malignant and cancer samples.
Article
Rheumatology
J. Loureiro-Amigo, C. Franco-Jarava, J. Perurena-Prieto, C. Palacio, F. Martinez-Valle, R. Solans-Laque
Summary: This study investigated the utility of several serum biomarkers in primary Sjogren's syndrome (pSS), identifying CXCL13, BAFF, IL-21, and IL-22 as potential markers of disease activity and their association with lymphocyte subpopulation disturbances in pSS. The combination of serum CXCL13, BAFF, and PD-L2 levels showed promising results in discriminating between pSS and Sicca syndrome.
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
(2021)
Article
Cell Biology
Gabrielli B. Carvalho, Paula N. Brandao-Lima, Tanyara B. Payolla, Sadraque E. F. Lucena, Flavia M. Sarti, Regina M. Fisberg, Marcelo M. Rogero
Summary: Inflammaging is a low-grade systemic inflammation that occurs with aging, particularly in chronic non-communicable diseases. This study investigated the expression of 21 circulating miRNAs and their associations with inflammatory biomarkers in older adults. The results suggest that there is a link between peripheral leptin resistance, low-grade inflammation, and plasma expression of miRNAs in older adults, indicating the potential of miRNAs as biomarkers for cardiometabolic risk.
Article
Immunology
Attila Szabo, Kevin S. O'Connell, Thor Ueland, Mashhood A. Sheikh, Ingrid Agartz, Dimitrios Andreou, Pal Aukrust, Birgitte Boye, Erlend Boen, Ole Kristian Drange, Torbjorn Elvsashagen, John Abel Engh, Sigrun Hope, Margrethe Collier Hoegh, Inge Joa, Erik Johnsen, Rune Andreas Kroken, Trine Vik Lagerberg, Tove Lekva, Ulrik Fredrik Malt, Ingrid Melle, Gunnar Morken, Terje Naerland, Vidar Martin Steen, Kjetil Sorensen, Kirsten Wedervang-Resell, Melissa Auten Weibell, Lars T. Westlye, Nils Eiel Steen, Ole Andreassen, Srdjan Djurovic
Summary: Patients with severe mental illnesses often have dysregulated immune responses, and dyslipidemia linked to systemic inflammasome activation plays a crucial role, yet specific immune mechanisms remain unknown in these disorders.
BRAIN BEHAVIOR AND IMMUNITY
(2022)
Article
Biochemistry & Molecular Biology
Richard Y. Wu, Karren Xiao, Naomi Hotte, Parul Tandon, Yesmine Elloumi, Lindsy Ambrosio, Garett Dunsmore, Shokrollah Elahi, Karen Kroeker, Levinus A. Dieleman, Karen L. Madsen, Vivian Huang
Summary: This study conducted a longitudinal analysis of cytokines in healthy pregnant women and pregnant women with IBD, and found that maternal serum cytokines during pregnancy are influenced by IBD, disease activity, and medications. Active UC was associated with an elevation in IL-21, while active CD was associated with elevated IFN-gamma, IL-6, and IL-21. Additionally, T1 serum cytokine levels of IL-22 and IL-6 were correlated with worse IBD disease activity throughout pregnancy in women with UC and CD, respectively.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)