Editorial Material
Multidisciplinary Sciences
Fahad Rashid, James Berger
Summary: High-resolution structures of bacterial Rho protein in complex with an RNA polymerase enzyme and partner proteins confirm the long-held model of Rho's role in gene transcription termination.
Article
Multidisciplinary Sciences
R. M. de Oliveira, Samurai Brito, L. R. da Silva, Constantino Tsallis
Summary: The Boltzmann-Gibbs statistical mechanics is not always applicable to all systems, especially when dealing with complex systems involving nonlocal space-time entanglement. However, a generalization based on nonadditive q-entropies proves to be more effective in handling such systems. The study shows that scale-invariant networks fall into this category, indicating a connection between random geometric problems and thermal problems within the generalised thermostatistics. The q-generalisation of the Boltzmann-Gibbs exponential factor is a key aspect in understanding these systems, with the q=1 limit showing a recovery of the original factor.
SCIENTIFIC REPORTS
(2021)
Article
Psychology, Multidisciplinary
Yumeng Lin, Duo Xu, Junying Liang
Summary: This study used complex network analysis to explore the differences between simultaneous interpreting and consecutive interpreting outputs, finding that consecutive interpreting networks exhibit higher connectivity and more significant roles of function words.
FRONTIERS IN PSYCHOLOGY
(2021)
Article
Cell Biology
Giuseppina Mastrototaro, Mattia Zaghi, Luca Massimino, Matteo Moneta, Neda Mohammadi, Federica Banfi, Edoardo Bellini, Marzia Indrigo, Giulia Fagnocchi, Anna Bagliani, Stefano Taverna, Maria Rohm, Stephan Herzig, Alessandro Sessa
Summary: The TBL1XR1 gene is associated with developmental disorders affecting the nervous system, playing a role in regulating the stability of the NCOR complex and neural progenitor cell proliferation and differentiation. Failure in regulating the MAPK cascade may contribute to the developmental imbalance observed in TBL1XR1 deficiency.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Chemistry, Multidisciplinary
Paul Joshua Hurst, Justin T. Mulvey, Rebecca A. Bone, Serxho Selmani, Redford F. Hudson, Zhibin Guan, Jason R. Green, Joseph P. Patterson
Summary: Inspired by biological materials, researchers have developed chemically driven self-assembly processes that can create transient supramolecular structures. The dynamics of these processes differ from conventional thermodynamically stable assemblies. Through time-resolved cryoEM analysis, the researchers found that the synchronous process of chemically driven self-assembly is more complex and heterogeneous than the sequential process. They also discovered that the synchronous process can sustain a thermodynamically unstable nanorod phase for several hours. This finding suggests that chemically driven self-assembly can create sustained morphologies not seen in thermodynamically stable assemblies by stabilizing transient intermediates kinetically.
Review
Biochemistry & Molecular Biology
Adria Fernandez-Torras, Arnau Comajuncosa-Creus, Miquel Duran-Frigola, Patrick Aloy
Summary: Chemoinformatics has made significant contributions to drug discovery by representing small molecule structures as numerical descriptors and utilizing the similarity principle, while the complexity of biological systems has led to large-scale experimental screenings to gain deeper insight. The emergence of data-driven descriptors has provided a rich portrait of small molecule characteristics beyond chemical properties. In this new scenario, both chemical and biological entities are translated into a common numerical format, allowing for complex connections to be unveiled through simple arithmetic operations.
CURRENT OPINION IN CHEMICAL BIOLOGY
(2022)
News Item
Multidisciplinary Sciences
Miryam Naddaf
Summary: The fruit fly's connectome could provide valuable insights into neurological diseases.
Article
Environmental Sciences
Dimitri Gominski, Valerie Gouet-Brunet, Liming Chen
Summary: This article discusses the challenge of understanding and connecting historical territorial imagery collections through content-based image retrieval, introducing the alegoria benchmark which contains mixed multi-date vertical and oblique aerial digitized photography with modern street-level pictures. The study proposes to address the low-data, heterogeneous image retrieval problem by reviewing ideas and methods, comparing state-of-the-art descriptors, and introducing a new multi-descriptor diffusion method to exploit their strengths. Results highlight the benefits of combining descriptors and the trade-off between absolute and cross-domain performance.
Article
Geosciences, Multidisciplinary
Ksenia Chmutina, Aparna Tandon, Maryam Kalkhitashvili, Manana Tevzadze, Irakli Kobulia
Summary: This paper examines the potential role of cultural heritage in the Racha region of Georgia through the perspectives of vulnerabilities and capacities as understood by the local people, highlighting the interconnectedness of tangible and intangible dimensions. It emphasizes the importance of considering cultural heritage within its larger environmental, political, social, and economic contexts to understand its relationship with capacities and vulnerabilities.
INTERNATIONAL JOURNAL OF DISASTER RISK REDUCTION
(2021)
Article
Psychology, Multidisciplinary
Amandine Pras, Mailis G. Rodrigues, Victoria Grupp, Marcelo M. Wanderley
Summary: The research presents a modular wearable MIDI interface designed to meet the needs of professional improvisers and incorporates Jim Black's improvisational gesture vocabulary. Drawing upon various bodies of knowledge, from theoretical principles on collaboration and embodiment to wearable interface design, a digital vest named Track It, Zip It (TIZI) was developed.
FRONTIERS IN PSYCHOLOGY
(2021)
Article
Multidisciplinary Sciences
Olena Shcherbakova, Susanne Maria Michaelis, Hannah J. Haynie, Sam Passmore, Volker Gast, Russell D. Gray, Simon J. Greenhill, Damian E. Blasi, Hedvig Skirgard
Summary: Many recent proposals claiming that languages adapt to their environments are called into question by this study, which examines the relationship between grammatical complexity and sociodemographic factors.
Article
Environmental Sciences
Oliver Tills, Luke A. Holmes, Elliot Quinn, Tony Everett, Manuela Truebano, John I. Spicer
Summary: Phenomics is a valuable technology for high-dimensional phenotyping, but its application in assessing organismal functional sensitivity to global change drivers is limited. In this study, we used Energy Proxy Traits (EPTs) to investigate the response of a marine invertebrate to multiple environmental drivers. We found significant differences in frequency-specific energy levels and complex developmental-stage specific sensitivities. EPTs are a transferrable method for high-dimensional phenotyping and important for assessing biological sensitivity to global change.
SCIENCE OF THE TOTAL ENVIRONMENT
(2023)
Article
Chemistry, Multidisciplinary
Layla Malouf, Diana A. Tanase, Giacomo Fabrini, Ryan A. Brady, Miguel Paez-Perez, Adrian Leathers, Michael J. Booth, Lorenzo Di Michele
Summary: This paper demonstrates how microphase separation can be used to engineer synthetic cells with programmable morphology and compartment-targeted activity. The synthetic cells are self-assembled from amphiphilic DNA nanostructures and can undergo lipid deposition and phase-selective etching to generate core-shell condensates, a porous pseudo-membrane, cytoplasm analog, and membrane-less organelles. The research exemplifies how architectural and functional complexity can emerge from a limited number of distinct building blocks.
Article
Geography
Anna Erwin
Summary: This study focuses on how faith shapes the activities of faith-based organizations (FBOs) that support Latinx farmworkers in rural spaces in the U.S. Through a five-month ethnography with Valle Vista Farmworker Ministry, the study reveals that the affiliation with the Church and individuals' faith play significant roles in guiding the FBO's actions. The findings suggest that FBOs can be potential partners and subjects of research for food justice actors working in rural areas with farmworkers.
JOURNAL OF RURAL STUDIES
(2022)
Article
Microbiology
Amanda H. Dilmore, Daniel McDonald, Tanya T. Nguyen, James B. Adams, Rosa Krajmalnik-Brown, Emmanuel Elijah, Pieter C. Dorrestein, Rob Knight
Summary: This study characterized the gut microbiome and metabolome in PTHS individuals and their unaffected parents, revealing a higher load of Clostridium bolteae in PTHS individuals compared to their parents and other individuals. The findings suggest a microbial involvement in PTHS, with specific metabolites associated with the condition also found in patients with inflammatory bowel disease and obesity.
Article
Hematology
Neelam Giri, Blanche P. Alter, Sharon A. Savage, Pamela Stratton
Summary: Research shows that women with dyskeratosis congenita (DC) and related telomere biology disorders (TBD) may experience adverse impacts on reproductive health, leading to frequent gynaecological problems and pregnancy complications. Women with TBDs would benefit from multidisciplinary, coordinated care by haematology, gynaecology, and maternal-fetal medicine specialists.
BRITISH JOURNAL OF HAEMATOLOGY
(2021)
Article
Oncology
Leatrisse Oba, Ana F. Best, Phuong L. Mai, Maria Isabel Achatz, Paul S. Albert, Sharon A. Savage, Payal P. Khincha
Summary: Intermediate 4- and 8-monthly screening blood tests may not provide independent benefit for early cancer detection in Li-Fraumeni syndrome (LFS) patients, but annual comprehensive screening and personalized follow-up remain essential.
Article
Multidisciplinary Sciences
Fiorella Ghisays, Aitor Garzia, Hexiao Wang, Claudia Canasto-Chibuque, Marcel Hohl, Sharon A. Savage, Thomas Tuschl, John H. J. Petrini
Summary: Telomere repeat containing RNAs (TERRAs) are a family of long non-coding RNAs transcribed from the subtelomeric regions of eukaryotic chromosomes. The helicase RTEL1 influences the abundance and localization of TERRA in human cells, with its preferred binding to G-quadruplex structures in TERRA. The regulation of TERRA by RTEL1 is crucial for cell viability and its loss may contribute to disease phenotypes in patients with RTEL1 mutations.
NATURE COMMUNICATIONS
(2021)
Article
Hematology
Marena R. Niewisch, Neelam Giri, Lisa J. McReynolds, Rotana Alsaggaf, Sonia Bhala, Blanche P. Alter, Sharon A. Savage
Summary: This study examined the associations between mode of inheritance in Dyskeratosis congenita related telomere biology disorders (DC/TBDs) and the clinical manifestations and long-term outcomes. The results showed that different modes of inheritance were correlated with different clinical presentations, and they also had an impact on the survival of patients.
Editorial Material
Hematology
Sharon A. Savage
Summary: In this study, novel pathogenic variants in RPA1 were discovered as a new cause of TBDs. The researchers investigated the clinical manifestations in patients from different families, and revealed the role of RPA1 in hematopoiesis and telomeric DNA binding and unfolding. The discovery enhances our understanding of RPA function in telomere biology and provides valuable information for families in understanding the cause of their illness.
Letter
Dermatology
Jessica N. Hatton, Michael R. Sargen, Megan N. Frone, Kelvin C. de Andrade, Sharon A. Savage, Payal P. Khincha
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2022)
Article
Medicine, General & Internal
Mone't B. Thompson, Daniel Muldoon, Kelvin C. de Andrade, Neelam Giri, Blanche P. Alter, Sharon A. Savage, Robert D. Shamburek, Payal P. Khincha
Summary: The study found that oral androgen therapy in DC patients altered lipid and lipoprotein levels, potentially increasing the risk of atherogenic cardiovascular disease. Individuals on androgens for DC-related BMF should undergo cardiovascular disease monitoring.
Editorial Material
Oncology
Martha S. Linet, Graca M. Dores, Sharon A. Savage
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2022)
Article
Genetics & Heredity
Sharon A. Savage, Kristine Jones, Kedest Teshome, Adriana Lori, Lisa J. McReynolds, Marena R. Niewisch
Summary: This study identified a limitation of Next-generation sequencing (NGS) in sequencing through homopolymers. Additionally, a polymorphic site in the WRAP53 gene was reported, and it was recommended that all variants in regions of the genome with homopolymers be validated by Sanger sequencing before clinical action.
Editorial Material
Oncology
Sharon A. Savage
JOURNAL OF CLINICAL ONCOLOGY
(2022)
Letter
Oncology
Ixtaccihuatl H. Obregon, Kelvin C. de Andrade, Renee C. Bremer, Payal P. Khincha, Sharon A. Savage
Article
Hematology
Hannah A. Raj, Tsung-Po Lai, Marena R. Niewisch, Neelam Giri, Youjin Wang, Stephen R. Spellman, Abraham Aviv, Shahinaz M. Gadalla, Sharon A. Savage
Summary: Individuals with telomere biology disorders (TBDs) have significantly shortened telomeres in blood cells, which is associated with increased risk of bone marrow failure and reduced survival. The mean telomere length is estimated to be 5 kilobases, but it is the shortest telomeres that indicate cellular senescence. By using the Telomere Shortest Length Assay (TeSLA), it was found that TBD patients have much shorter mean telomere length and an increased number of telomeres less than 3 kilobases. In addition, TBD patients with severe bone marrow failure and multiple organ manifestations have even shorter telomeres.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Multidisciplinary Sciences
Chiara Pederiva, Davide M. Trevisan, Dimitra Peirasmaki, Shan Chen, Sharon A. Savage, Ola Larsson, Jernej Ule, Laura Baranello, Federico Agostini, Marianne Farnebo
Summary: Posttranscriptional modifications of mRNA, including pseudouridylation, play a crucial role in gene expression regulation. In this study, dyskerin, a pseudouridine synthase, was found to bind to RNA polymerase II and be responsible for pseudouridylation of thousands of mRNAs. Dyskerin-mediated pseudouridylation was shown to interfere with translation and reduction of the modification led to enhanced protein synthesis. Furthermore, dyskeratosis congenita patients with mutations in the dyskerin-encoding gene showed severe reduction in mRNA pseudouridylation.
Review
Geriatrics & Gerontology
Sharon A. Savage
Summary: Telomere length is crucial in genomic stability and cancer risk, with both too short and too long telomeres associated with increased cancer risks.
Article
Oncology
Megan N. Frone, Douglas R. Stewart, Sharon A. Savage, Payal P. Khincha
Summary: The use of ACMG and AMP guidelines has improved germline variant classification concordance, but discrepancies still persist, affecting medical management. In a study of families with germline TP53 variants, 39% showed discordant interpretations, with 11% having variants that could significantly impact medical management. Centralized data sharing and provider education for consistent variant interpretation are crucial for optimal patient care.
JCO PRECISION ONCOLOGY
(2021)
