Article
Clinical Neurology
Isabel C. Hostettler, Benjamin O'Callaghan, Enrico Bugiardini, Emer O'Connor, Jana Vandrovcova, Indran Davagnanam, Varinder Alg, Stephen Bonner, Daniel Walsh, Diederik Bulters, Neil Kitchen, Martin M. Brown, Joan Grieve, David J. Werring, Henry Houlden
Summary: The study reveals the significance of ANGPTL6 gene variants in familial intracranial aneurysms, indicating a potential role in abnormal blood vessel proliferation. Screening familial IA cases for ANGPTL6 and related genes is emphasized, along with highlighting the ANGPTL6 pathway as a potential therapeutic target.
Article
Clinical Neurology
Xiaohui Sun, Bin Liu, Ying Chen, Linshuoshuo Lv, Ding Ye, Yingying Mao
Summary: This study identified several modifiable risk factors, including blood pressure, smoking, educational attainment, and insomnia, that were associated with the risk of intracranial aneurysm (IA).
INTERNATIONAL JOURNAL OF STROKE
(2022)
Article
Oncology
Nan Li, Hangyu Shi, Pengfei Hou, Lu Gao, Yongqiang Shi, Weiyang Mi, Gang Zhang, Ning Wang, Wei Dai, Lin Wei, Tianbo Jin, Yongzhi Shi, Shiwen Guo
Summary: This study identified a SNP (rs688755) in the exon region of CYP4F12 at 19p13.12 as significantly associated with gliomas in the Han Chinese population through a genome-wide association study. The findings provide valuable insight into the genetic contribution to glioma in different populations, with implications for further research and potential clinical applications.
INTERNATIONAL JOURNAL OF CANCER
(2021)
Review
Psychology, Clinical
Isabell Brikell, Christie Burton, Nina Roth Mota, Joanna Martin
Summary: ADHD is a common and highly heritable neurodevelopmental disorder, with recent research showing a complex genetic architecture involving multiple genes and neurobiological processes. Genetic studies suggest that ADHD diagnosis shares a large proportion of genetic risks with continuously distributed traits of ADHD in the population, as well as with genetic risks implicated in other neurodevelopmental, psychiatric, and somatic phenotypes.
PSYCHOLOGICAL MEDICINE
(2021)
Article
Oncology
Wenjun Yang, Hongliang Liu, Ruoxin Zhang, Jennifer A. Freedman, Younghun Han, Rayjean J. Hung, Yonathan Brhane, John McLaughlin, Paul Brennan, Heike Bickeboeller, Albert Rosenberger, Richard S. Houlston, Neil E. Caporaso, Maria Teresa Landi, Irene Brueske, Angela Risch, David C. Christiani, Christopher I. Amos, Xiaoxin Chen, Steven R. Patierno, Qingyi Wei
Summary: Limited efforts have been made in assessing the impact of genome-wide profiling of RNA splicing-related variation on lung cancer risk. This study identified three genetic variants related to RNA splicing that significantly contribute to lung cancer susceptibility in European populations. Validation and exploration of specific splicing mechanisms underlying these associations are needed.
NPJ PRECISION ONCOLOGY
(2022)
Article
Oncology
Xiaoshun Shi, Sylvia Young, Grant Morahan
Summary: The study identified 24 X chromosome SNPs significantly associated with male lung cancer cases, located near genes DMD, PTCHD1-AS, and AL008633.1, which may have effects on immune function. The differential expression of DMD in lung cancer cases suggests potential targets for sex-specific lung cancer prevention.
Article
Biotechnology & Applied Microbiology
Janet E. Williams, Michelle K. McGuire, Courtney L. Meehan, Mark A. McGuire, Sarah L. Brooker, Elizabeth W. Kamau-Mbuthia, Egidioh W. Kamundia, Samwel Mbugua, Sophie E. Moore, Andrew M. Prentice, Gloria E. Otoo, Juan M. Rodriguez, Rossina G. Pareja, James A. Foster, Daniel W. Sellen, Debela G. Kita, Holly L. Neibergs, Brenda M. Murdoch
Summary: Human milk oligosaccharides (HMO), the third most abundant component of human milk, are believed to be crucial for infant health. This study conducted genome-wide association analyses on 395 women from 8 countries to identify genetic regions associated with different types of HMO, and found FUT2 to be the most significantly associated gene. Additionally, evidence of balancing selection for FUT2 was observed.
Article
Genetics & Heredity
Jianchang Hu, Cai Li, Shiying Wang, Ting Li, Heping Zhang
Summary: This study identified 8 super variants associated with susceptibility to COVID-19 mortality through a genome-wide association study. These variants are related to cilia dysfunctions, cardiovascular diseases, thromboembolic disease, and other conditions, providing potential directions for understanding the molecular pathogenesis of COVID-19 and the genetic basis of heterogeneous susceptibility.
Review
Genetics & Heredity
Prashantha Hebbar, Mohamed Abu-Farha, Jehad Abubaker, Arshad Mohamed Channanath, Fahd Al-Mulla, Thangavel Alphonse Thanaraj
Summary: The Arab population on the Arabian Peninsula is characterized by consanguinity and endogamy, resulting in inbreeding. While some studies have found replicability of GWA-identified metabolic risk variants in the Arab population, overall transferability remains low. It is important to conduct large-scale GWA studies on deeply phenotyped cohorts of at least 20,000 Arab individuals to improve our understanding of genetic correlations and phenotype variance in this population.
Article
Clinical Neurology
Mark K. Bakker, Jos P. Kanning, Gad Abraham, Amy E. Martinsen, Bendik S. Winsvold, John-Anker Zwart, Romain Bourcier, Tomonobu Sawada, Masaru Koido, Yoichiro Kamatani, Sandrine Morel, Philippe Amouyel, Stephanie Debette, Philippe Bijlenga, Takiy Berrandou, Santhi K. Ganesh, Nabila Bouatia-Naji, Gregory Jones, Matthew Bown, Gabriel J. E. HUNT All In Stroke, Jan H. CADISP Grp, Ynte M. Int Consortium Blood Pressure, Int Headache Genetics Consortium, ISGC, Intracranial Aneurysm Working Grp, Gabriel J. E. Rinkel, Jan Veldink, Ynte Ruigrok
Summary: Recently, common genetic risk factors for intracranial aneurysm (IA) and aneurysmal subarachnoid hemorrhage (ASAH) were found to have potential for genetic risk prediction. However, a genetic risk score incorporating these factors only showed limited predictive value for IA presence and ASAH incidence, suggesting that it may not be suitable for daily clinical use.
Article
Biochemistry & Molecular Biology
Shiqi Lin, Song Wu, Wei Zhao, Zhanjie Fang, Hongen Kang, Xinxuan Liu, Siyu Pan, Fudong Yu, Yiming Bao, Peilin Jia
Summary: TargetGene is a comprehensive database that reports target genes for human genetic variants using multiple analytical tools and multi-omics data. This resource helps researchers study the regulatory mechanisms of genetic variants in complex human traits.
NUCLEIC ACIDS RESEARCH
(2023)
Article
Cardiac & Cardiovascular Systems
Hildur M. Aegisdottir, Rosa B. Thorolfsdottir, Gardar Sveinbjornsson, Olafur A. Stefansson, Bjarni Gunnarsson, Vinicius Tragante, Gudmar Thorleifsson, Lilja Stefansdottir, Thorgeir E. Thorgeirsson, Egil Ferkingstad, Patrick Sulem, Gudmundur Norddahl, Gudrun Rutsdottir, Karina Banasik, Alex Hoerby Christensen, Christina Mikkelsen, Ole Birger Pedersen, Soren Brunak, Mie Topholm Bruun, Christian Erikstrup, Rikke Louise Jacobsen, Kaspar Rene Nielsen, Erik Sorensen, Michael L. Frigge, Kristjan E. Hjorleifsson, Erna Ivarsdottir, Anna Helgadottir, Solveig Gretarsdottir, Valgerdur Steinthorsdottir, Asmundur Oddsson, Hannes P. Eggertsson, Gisli H. Halldorsson, David A. Jones, Jeffrey L. Anderson, Kirk U. Knowlton, Lincoln D. Nadauld, D. B. D. S. Genomic Consortium DBDS Genomic Consortium, Magnus Haraldsson, Gudmundur Thorgeirsson, Henning Bundgaard, David O. Arnar, Unnur Thorsteinsdottir, Daniel F. Gudbjartsson, Sisse R. Ostrowsk, Hilma Holm, Kari Stefansson
Summary: This study investigates the genetics of syncope and provides insight into its pathophysiology and prognostic implications. The results show that syncope has a distinct genetic architecture involving neural regulatory processes and a complex relationship with heart rate and blood pressure regulation. There is also a shared genetic background with poor cardiovascular health. Thorough assessment is important for individuals presenting with syncope.
EUROPEAN HEART JOURNAL
(2023)
Article
Genetics & Heredity
Mehdi Fazel-Najafabadi, Harikrishna-Reddy Rallabandi, Manish K. Singh, Guru P. Maiti, Jacqueline Morris, Loren L. Looger, Swapan K. Nath
Summary: This study identifies the 2p13.1 locus as a susceptibility site for SLE and provides insights into the underlying molecular mechanisms involving DGUOK gene.
Article
Psychology, Clinical
Chengcheng Zhang, Xiaojing Li, Liansheng Zhao, Wanjun Guo, Wei Deng, Qiang Wang, Xun Hu, Xiangdong Du, Pak Chung Sham, Xiongjian Luo, Tao Li
Summary: This study used TWAS to identify 8 novel risk genes associated with schizophrenia (SCZ). These genes play an important role in frontal-limbic dysfunctions in SCZ patients and could be potential therapeutic targets.
PSYCHOLOGICAL MEDICINE
(2023)
Review
Genetics & Heredity
Muhammad Khurum Razzaq, Aiman Hina, Asim Abbasi, Benjamin Karikari, Hafiza Javaria Ashraf, Muhammad Mohiuddin, Sumaira Maqsood, Aqsa Maqsood, Inzamam Ul Haq, Guangnan Xing, Ghulam Raza, Javaid Akhter Bhat
Summary: Insect pests are a significant threat to agriculture, but enhancing insect pest resistance in legumes through the use of plant secondary metabolites is a viable solution.
FUNCTIONAL & INTEGRATIVE GENOMICS
(2023)
Article
Cell Biology
Diogo Paramos-de-Carvalho, Isaura Martins, Ana Margarida Cristovao, Ana Filipa Dias, Dalila Neves-Silva, Telmo Pereira, Diana Chapela, Ana Farinho, Antonio Jacinto, Leonor Saude
Summary: Persistent senescent cells play a role in aging-related chronic disorders but may also be central during tissue remodeling events like development or organ repair. Research has shown that different senescence profiles are induced in regenerative zebrafish compared to scarring mouse after spinal cord injury. Depletion of senescent cells in injured mice improves motor, sensory, and bladder functions, associated with enhanced myelin sparing, reduced fibrotic scars, and decreased inflammation. Targeting senescent cells could be a promising therapeutic strategy for spinal cord injuries and other non-regenerative organs.
Article
Oncology
Diana P. Saraiva, Sofia Azeredo-Lopes, Ana Antunes, Rute Salvador, Paula Borralho, Beatriz Assis, Isabel L. Pereira, Zita Seabra, Ida Negreiros, Antonio Jacinto, Sofia Braga, M. Guadalupe Cabral
Summary: Many breast cancer patients do not benefit significantly from neoadjuvant chemotherapy, and the HLA-DR level in CTLs may serve as a predictive biomarker for NACT response and a potential therapeutic strategy.
Article
Urology & Nephrology
Silvia Coelho, Maria Guadalupe Cabral, Rute Salvador, Claudia Andrade, Ana Martins, Bruna Correia, Paulo Freitas, Josep Maria Cruzado, Antonio Jacinto
Summary: This study investigated the urinary immune cell phenotype in patients with acute kidney injury (AKI), and found that M2 macrophages may promote renal recovery while B cells may impede it.
INTERNATIONAL UROLOGY AND NEPHROLOGY
(2022)
Article
Pharmacology & Pharmacy
Teresa Lopes Gomes, Virginia de Oliveira-Marques, Richard John Hampson, Antonio Jacinto, Luciana Vieira de Moraes, Rui Goncalo Martinho
Summary: Tight junctions are formed by proteins that seal the intercellular space and control the permeability of epithelia. This study focuses on finding compounds that reinforce the epithelial barrier and developed a screening platform to identify compounds that modulate the expression of Par-6, a protein involved in tight junction assembly. Six compounds were tested and two of them (myricetin and quercetin) were shortlisted for further development.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Multidisciplinary Sciences
Marta Alenquer, Tiago Milheiro Silva, Onome Akpogheneta, Filipe Ferreira, Silvia Vale-Costa, Monica Medina-Lopes, Frederico Batista, Ana Margarida Garcia, Vasco M. Barreto, Cathy Paulino, Joao Costa, Joao Sobral, Maria Diniz-da-Costa, Susana Ladeiro, Rita Corte-Real, Jose Delgado Alves, Ricardo B. Leite, Jocelyne Demengeot, Maria Joao Rocha Brito, Maria Joao Amorim
Summary: This study demonstrates that saliva is an effective sample for detecting SARS-CoV-2 RNA and antibodies in children aged 10 years and under, with high sensitivity and accuracy, even without RNA extraction methods.
Article
Biology
Ana S. Brandao, Jorge Borbinha, Telmo Pereira, Patricia H. Brito, Raquel Lourenco, Anabela Bensimon-Brito, Antonio Jacinto
Summary: This study explores the role of glucose metabolism in fish bone regeneration. The results show that injury triggers a modulation in the metabolic profile, allowing mature bone cells to transition into pre-osteoblasts and induce cell proliferation. The study also finds that manipulation of the metabolic profile significantly reduces the number of pre-osteoblasts and completely inhibits blastema formation.
Article
Oncology
Lizelle Correia, Ramiro Magno, Joana M. Xavier, Bernardo P. de Almeida, Isabel Duarte, Filipa Esteves, Marinella Ghezzo, Matthew Eldridge, Chong Sun, Astrid Bosma, Lorenza Mittempergher, Ana Marreiros, Rene Bernards, Carlos Caldas, Suet-Feung Chin, Ana-Teresa Maia
Summary: PIK3CA mutations are common in breast cancer, and there is an allelic expression imbalance between the mutant and wild-type alleles. Preferential expression of the mutant allele is associated with poor prognosis, and ER-, PR-, and HER2+ tumors show significant preferential expression of the mutant allele.
Article
Education & Educational Research
James Lees, Lucrezia Gorini, Stian Torjussen, Margarida Oliveira, Paula Pinto, Maria Potes Barbas, Madalena Martins, Melanie S. Jones, Victoria Sheppard, Ana Petronilho, Margarida Trindade
Summary: This paper provides an example of best practice in enhancing employability for doctorate-holders in the cross-sectoral labour market. A transnational skills development project was conducted, involving researchers from different universities and career stages. The findings indicate that transnational collaboration enhances the learning environment for researchers and provides significant professional development opportunities for both researchers and research support staff.
STUDIES IN GRADUATE AND POSTDOCTORAL EDUCATION
(2023)
Article
Microbiology
Marcia Melo Medeiros, Anna Cacilia Ingham, Line Moller Nanque, Claudino Correia, Marc Stegger, Paal Skyt Andersen, Ane Baerent Fisker, Christine Stabell Benn, Miguel Lanaspa, Henrique Silveira, Patricia Abrantes
Summary: This study found that revaccination with oral polio vaccine (OPV) led to changes in the composition of gut and upper respiratory bacterial microbiotas in infants. Two months after revaccination, OPV-revaccinated infants had a more abundant and diversified microbiome with a reduced proportion of potentially pathogenic/opportunistic bacteria.
FRONTIERS IN MICROBIOLOGY
(2022)
Article
Infectious Diseases
Mariana Andrade, Ketlyn Oliveira, Catarina Morais, Patricia Abrantes, Constanca Pomba, Adriana E. Rosato, Isabel Couto, Sofia Santos Costa
Summary: This study reveals the frequent biofilm production by antimicrobial-resistant coagulase-positive staphylococci in companion animals, which is associated with a higher virulence potential and persistent or recurrent infections.
Article
Environmental Studies
Patricia Abrantes, Eduarda Marques da Costa, Eduardo Gomes
Summary: This study investigates the agricultural-urban spatial patterns and changes in the Lisbon metropolitan region using indicators from both urban and agricultural dimensions. The results show diverse urban and agriculture patterns ranging from gardening to intensive and extensive forms, and from decline to stability in the Lisbon metropolitan region.
LANDSCAPE RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Carolina Ferreira, Patricia Abrantes, Sofia Santos Costa, Miguel Viveiros, Isabel Couto
Summary: This study identified the variability of norA within Staphylococcus aureus and its distribution among other staphylococci. It also demonstrated the applicability of a PCR-based algorithm to detect and differentiate norA alleles, and found the association of norA alleles with specific S. aureus clonal lineages.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Multidisciplinary Sciences
Joao Cardeira-da-Silva, Anabela Bensimon-Brito, Marco Tarasco, Ana S. Brandao, Joana T. Rosa, Jorge Borbinha, Paulo J. Almeida, Antonio Jacinto, M. Leonor Cancela, Paulo J. Gavaia, Didier Y. R. Stainier, Vincent Laize
Summary: By studying the bone patterning during zebrafish fin ray regeneration, it was discovered that the fin rays form through two mineralization fronts and bifurcation is not a simple splitting process. Osteolytic tubules play a key role in defining the position of the branchpoint.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Agriculture, Dairy & Animal Science
Marta Leal, Catarina Morais, Barbara Ramos, Constanca Pomba, Patricia Abrantes, Sofia Santos Costa, Isabel Couto
Summary: This study aimed to evaluate the contribution of efflux to biocide and fluoroquinolone resistance in S. pseudintermedius. The results showed that efflux activity significantly increased resistance to biocides, which was strain-specific and glucose-dependent. Fluoroquinolone resistance was mainly related to target gene mutations. This study highlights the importance of efflux-mediated resistance in S. pseudintermedius and provides a methodological basis for further studies on this important veterinary pathogen.
Article
Medicine, Research & Experimental
Vitor Borges, Joana Isidro, Nidia Sequeira Trovao, Silvia Duarte, Helena Cortes-Martins, Hugo Martiniano, Isabel Gordo, Ricardo Leite, Luis Vieira, Raquel Guiomar, Joao Paulo Gomes
Summary: Genomic surveillance of SARS-CoV-2 in Portugal was rapidly implemented in collaboration with over 50 laboratories distributed nationwide. The study detected at least 277 independent introductions of SARS-CoV-2, mostly from European countries, highlighting the importance of early measures in minimizing the spread of the virus.
COMMUNICATIONS MEDICINE
(2022)
