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JOURNAL ARTICLE
Joseph Markowitz, Michael Shamblott, Andrew S Brohl, Amod A Sarnaik, Zeynep Eroglu, Nikhil I Khushalani, Christopher W Dukes, Alejandra Chamizo, Marina Bastawrous, Edward T Garcia, Ashraf Delhawi, Pei-Ling Chen, Deanryan B De Aquino, Vernon K Sondak, Ahmad A Tarhini, Youngchul Kim, Patricia Lawman, Shari Pilon-Thomas
IFx-Hu2.0 was designed to encode part of the Emm55 protein contained within a plasmid in a formulation intended for transfection into mammalian cells. IFx-Hu2.0 promotes both adaptive and innate immune responses in animal studies. Furthermore, previous studies have demonstrated safety/efficacy in equine, canine, and murine species. We present the first-in-human study of IFx-Hu2.0, administered by intralesional injection into melanoma tumors of seven patients with stage III/IV unresectable melanoma. No dose-limiting toxicities attributable to IFx-Hu2...
April 24, 2024: Molecular Cancer Therapeutics
#2
JOURNAL ARTICLE
Mohammad Abdolsamadi, Sharareh Rasouli, Ali Alizadeh Severi, Mohammad Reza Khirehgesh, Fatemeh Safari, Nejat Mahdieh, Habibolah Khazaie, Bijan Soleymani, Bahman Akbari
Introduction: Sleep is one of the most significant parts of everyone's life. Most people sleep for about one-third of their lives. Sleep disorders negatively impact the quality of life. Obstructive sleep apnea (OSA) is a severe sleep disorder that significantly impacts the patient's life and their family members. This study aimed to investigate the relationship between rs6313 and rs6311 polymorphisms in the serotonin receptor type 2A gene and OSA in the Kurdish population. Materials and Methods: The study's population comprises 100 OSA sufferers and 100 healthy people...
April 2024: Genetic Testing and Molecular Biomarkers
#3
JOURNAL ARTICLE
Wen Bi, Jingjing Li, Mengqiu Xiong, Lubanga Nasifu, Mingjuan Tan, Ping Tai, Qing Jin, Lingyun Zhang, Chengbin Zhu, Bangshun He
Objective: The purpose of this study was to evaluate the association between the single nucleotide polymorphisms (SNPs) ( EGR3 rs1996147; EGR4 rs3813226, rs6747506; ERBB3 rs2292238; and ERBB4 rs707284, rs7560730) and the risk of schizophrenia (SZ) in a Chinese population. Materials and Methods: We conducted a case-control study, including 248 patients with SZ and 236 healthy controls matched for age and sex. The Mass-array platform was used to detect all the genotypes of the SNPs. Results: The results revealed that the EGR3 rs1996147 AA genotype was associated with borderline decreased SZ risk (AA vs...
April 2024: Genetic Testing and Molecular Biomarkers
#4
JOURNAL ARTICLE
Somayya Naguib, Lamiaa A Mansour, Neveen A Soliman, Hadeel M El-Hanafy, Yosra A Fahmy, Mohamed A Elmonem, Radwa M Abdel Halim
Introduction: Approximately 80% of primary hyperoxaluria cases are caused by primary hyperoxaluria type 1 (PH1, OMIM# 259900), which is characterized by pathogenic variants in the AGXT gene, resulting in deficiency of the liver-specific enzyme alanine-glyoxylate aminotransferase (AGT). This leads to increased production of oxalate, which cannot be effectively eliminated from the body, resulting in its accumulation primarily in the kidneys and other organs. Subjects and Methods: This study included 17 PH1 Egyptian patients from 12 unrelated families, recruited from the Inherited Kidney Disease Outpatient Clinic and the Dialysis Units, Cairo University Hospitals, during the period from January 2018 to December 2019, aiming to identify the pathogenic variants in the AGXT gene...
April 2024: Genetic Testing and Molecular Biomarkers
#5
JOURNAL ARTICLE
Yuta Ito, Amira Marouf, Yasunori Kogure, Junji Koya, Raphaël Liévin, Julie Bruneau, Mariko Tabata, Yuki Saito, Sumito Shingaki, Mitsuhiro Yuasa, Kentaro Yamaguchi, Koichi Murakami, Robert Weil, Manon Vavasseur, Guillaume P Andrieu, Mehdi Latiri, Layla Veleanu, Michaël Dussiot, Isabelle André, Akshay Joshi, Chantal Lagresle-Peyrou, Aude Magerus, Sammara Chaubard, David Lavergne, Emmanuel Bachy, Erika Brunet, Virginie Fataccioli, Chantal Brouzes, Camille Laurent, Laurence De Leval, Alexandra Traverse-Glehen, Céline Bossard, Marie-Cécile Parrens, Véronique Meignin, Laure Philippe, Julien Rossignol, Felipe Suarez, Jean-Marie Michot, Olivier Tournilhac, Gandhi Damaj, François Lemonnier, Christine Bôle-Feysot, Patrick Nitschké, Bruno Tesson, Cécile Laurent, Thierry Molina, Vahid Asnafi, Yosaku Watatani, Kenichi Chiba, Ai Okada, Yuichi Shiraishi, Sachiko Tsukita, Koji Izutsu, Hiroaki Miyoshi, Koichi Ohshima, Seiji Sakata, Akito Dobashi, Kengo Takeuchi, Masashi Sanada, Philippe Gaulard, Arnaud Jaccard, Seishi Ogawa, Olivier Hermine, Keisuke Kataoka, Lucile Couronné
Extranodal NK/T-cell lymphoma (ENKTCL) is an Epstein-Barr virus (EBV)-related neoplasm with male dominance and a poor prognosis. A better understanding of the genetic alterations and their functional roles in ENKTCL could help improve patient stratification and treatments. Here, we performed comprehensive genetic analysis of 177 ENKTCL cases to delineate the landscape of mutations, copy number alterations (CNAs), and structural variations, identifying 34 driver genes including six previously unappreciated ones, namely HLA-B, HLA-C, ROBO1, CD58, POT1, and MAP2K1...
April 24, 2024: Cancer Research
#6
JOURNAL ARTICLE
David J Sherman, Lei Liu, Jennifer L Mamrosh, Jiansong Xie, John Ferbas, Brett Lomenick, Mark S Ladinsky, Rati Verma, Ingrid C Rulifson, Raymond J Deshaies
Nonalcoholic fatty liver disease, recently renamed metabolic dysfunction-associated steatotic liver disease (MASLD), is a progressive metabolic disorder that begins with aberrant triglyceride accumulation in the liver and can lead to cirrhosis and cancer. A common variant in the gene PNPLA3 , encoding the protein PNPLA3-I148M, is the strongest known genetic risk factor for MASLD. Despite its discovery 20 y ago, the function of PNPLA3, and now the role of PNPLA3-I148M, remain unclear. In this study, we sought to dissect the biogenesis of PNPLA3 and PNPLA3-I148M and characterize changes induced by endogenous expression of the disease-causing variant...
April 30, 2024: Proceedings of the National Academy of Sciences of the United States of America
#7
JOURNAL ARTICLE
Ka Lung Cheung, Li Zhao, Rajal Sharma, Anurupa Abhijit Ghosh, Michael Appiah, Yifei Sun, Anbalagan Jaganathan, Yuan Hu, Alannah LeJeune, Feihong Xu, Xinye Han, Xueting Wang, Fan Zhang, Chunyan Ren, Martin J Walsh, Huabao Xiong, Alexander Tsankov, Ming-Ming Zhou
Class II histone deacetylases (HDACs) are important in regulation of gene transcription during T cell development. However, our understanding of their cell-specific functions is limited. In this study, we reveal that class IIa Hdac4 and Hdac7 (Hdac4/7) are selectively induced in transcription, guiding the lineage-specific differentiation of mouse T-helper 17 (Th17) cells from naive CD4+ T cells. Importantly, Hdac4/7 are functionally dispensable in other Th subtypes. Mechanistically, Hdac4 interacts with the transcription factor (TF) JunB, facilitating the transcriptional activation of Th17 signature genes such as Il17a/f ...
April 30, 2024: Proceedings of the National Academy of Sciences of the United States of America
#8
JOURNAL ARTICLE
Lin Wang, Angkana T Huang, Leah C Katzelnick, Noémie Lefrancq, Ana Coello Escoto, Loréna Duret, Nayeem Chowdhury, Richard Jarman, Matthew A Conte, Irina Maljkovic Berry, Stefan Fernandez, Chonticha Klungthong, Butsaya Thaisomboonsuk, Piyarat Suntarattiwong, Warunee Vandepitte, Stephen S Whitehead, Simon Cauchemez, Derek A T Cummings, Henrik Salje
Many pathogens continuously change their protein structure in response to immune-driven selection, resulting in weakened protection even in previously exposed individuals. In addition, for some pathogens, such as dengue virus, poorly targeted immunity is associated with increased risk of severe disease through a mechanism known as antibody-dependent enhancement. However, it remains unclear whether the antigenic distances between an individual's first infection and subsequent exposures dictate disease risk, explaining the observed large-scale differences in dengue hospitalizations across years...
April 24, 2024: Science Translational Medicine
#9
JOURNAL ARTICLE
Laura Dirkx, Sara Van Acker, Yasmine Nicolaes, João Luís Reis Cunha, Rokaya Ahmad, Rik Hendrickx, Ben Caljon, Hideo Imamura, Didier G Ebo, Daniel C Jeffares, Yann G-J Sterckx, Louis Maes, Sarah Hendrickx, Guy Caljon
Addressing the challenges of quiescence and post-treatment relapse is of utmost importance in the microbiology field. This study shows that Leishmania infantum and L. donovani parasites rapidly enter into quiescence after an estimated 2-3 divisions in both human and mouse bone marrow stem cells. Interestingly, this behavior is not observed in macrophages, which are the primary host cells of the Leishmania parasite. Transcriptional comparison of the quiescent and non-quiescent metabolic states confirmed the overall decrease of gene expression as a hallmark of quiescence...
April 24, 2024: PLoS Pathogens
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JOURNAL ARTICLE
Monika Duś-Żuchowska, Hanna Nowak, Łukasz Kałużny, Dariusz Rokicki, Elżbieta Ciara, Dorota Piekutowska-Abramczuk, Jarosław Walkowiak
BACKGROUND Cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) deficiency is an extremely rare autosomal recessive inherited error of metabolism in which gluconeogenesis is impaired, resulting in life-threatening episodes of hypoglycemia and metabolic acidosis. The diagnosis of gluconeogenesis disorders is challenging. In the diagnostic pathway, the molecular test plays a paramount role. CASE REPORT The aim of the paper is to present the case report of a girl with recurrent episodes of severe hypoglycemia, in whom molecular diagnosis enabled the confirmation of PEPCK - C deficiency...
April 24, 2024: American Journal of Case Reports
#11
COMPARATIVE STUDY
Xiang Lei, Xuewen Wang, Yongfeng Li, Huawei Liu, Guoqiang Yan, Jinzhu Jing, Zhen Liang, Anyi Guo, Min Hu, Yajun Liu
Although the knee joint (KNJ) and temporomandibular joint (TMJ) all belong to the synovial joint, there are many differences in developmental origin, joint structure and articular cartilage type. Studies of joint development in embryos have been performed, mainly using poultry and rodents. However, KNJ and TMJ in poultry and rodents differ from those in humans in several ways. Very little work has been done on the embryonic development of KNJ and TMJ in large mammals. Several studies have shown that pigs are ideal animals for embryonic development research...
November 2024: Animal Biotechnology
#12
REVIEW
Pernilla Wikström, Anders Bergh, Andreas Josefsson, Elin Thysell, Karin Welén
Increased molecular knowledge makes it possible to consider not only genetic defects but also expression profiles for precision medicine in advanced prostate cancer. Several prognostic and treatment-predictive classifiers for prostate cancer have been described, such as Prolaris, OncotypeDx, Decipher, Prostatype, PAM50, PCS1-2, and MetA-C, which all build upon transcript profiles. In research studies, the MetA-C classifier has shown clear prognostic information for patients with metastatic disease, in relation to outcome after androgen receptor targeting therapies, and so has immunohistochemical evaluation of tumor cell proliferation (Ki67) and PSA expression...
April 24, 2024: Läkartidningen
#13
JOURNAL ARTICLE
Elena Mavridou, Anair Graciela Lema Fernandez, Carlotta Nardelli, Valentina Pierini, Martina Quintini, Silvia Arniani, Danika Di Giacomo, Barbara Crescenzi, Caterina Matteucci, Constantina Sambani, Cristina Mecucci
In myeloid neoplasms, both fusion genes and gene mutations are well-established events identifying clinicopathological entities. In this study, we present a thus far undescribed t(X;21)(p11.4;q22.12) in five cases with myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). The translocation was isolated or accompanied by additional changes. It did not generate any fusion gene or gene deregulation by aberrant juxtaposition with regulatory sequences. Molecular analysis by targeted next-generation sequencing showed that the translocation was accompanied by at least one somatic mutation in TET2, EZH2, RUNX1, ASXL1, SRSF2, ZRSR2, DNMT3A, and NRAS genes...
April 2024: Genes, Chromosomes & Cancer
#14
JOURNAL ARTICLE
Pinja M Marin, Marjaana Lindeman, Annika M Svedholm-Häkkinen
Despite everyday argumentation being crucial to human communication and decision-making, the cognitive determinants of argument evaluation are poorly known. This study examined how attitudes and aspects of cognitive sophistication, i.e., thinking styles and scientific literacy, relate to people's acceptance of poorly justified arguments (e.g., unwarranted appeals to naturalness) on controversial topics (e.g., genetically modified organisms (GMOs)). The participants were more accepting of poorly justified arguments that aligned with their attitudes compared to those that opposed their attitudes, and this was true regardless of one's thinking styles or level of scientific literacy...
April 24, 2024: Memory & Cognition
#15
JOURNAL ARTICLE
Elizabeth C Hendrickson, Mitchell B Cruzan
Effective dispersal among plant populations is dependent on vector behaviour, landscape features and availability of adequate habitats. To capture landscape feature effects on dispersal, studies must be conducted at scales reflecting single-generation dispersal events (mesoscale). Many studies are conducted at large scales where genetic differentiation is due to dispersal occurring over multiple generations, making it difficult to interpret the effects of specific landscape features on vector behaviour. Genetic structure at the mesoscale may be determined by ecological and evolutionary processes, such as the consequences of vector behaviour on patterns of gene flow...
April 24, 2024: Molecular Ecology
#16
JOURNAL ARTICLE
Matilde Grupe Frost, Kristoffer Jarlov Jensen, Espen Jimenez-Solem, Camilla Qvortrup, Tine Plato Kuhlmann, Jon Lykkegaard Andersen, Estrid Høgdall, Tonny Studsgaard Petersen
OBJECTIVE: This study aims to evaluate the developments in the testing of Kirsten Rat Sarcoma viral oncogene homolog (KRAS) and v-Raf murine sarcoma viral oncogene homolog B1 (BRAF) mutations across different cancer types and regions in Denmark from 2010 to 2022. STUDY DESIGN AND SETTING: Using comprehensive data from the Danish health registries, we linked molecular test results from the Danish Pathology Registry with cancer diagnoses from the Danish National Patient Registry between 2010 and 2022...
April 2024: Genes, Chromosomes & Cancer
#17
JOURNAL ARTICLE
Ann-Kathrin Hinrichs, Aline Koch, Antje M Richter
Epigenetic editing, also known as EpiEdit, offers an exciting way to control gene expression without altering the DNA sequence. In this study, we evaluate the application of EpiEdit to plant promoters, specifically the MLO (mildew locus o) gene promoter. We use a modified CRISPR-(d)Cas9 system, in which the nuclease-deficient Cas9 (dCas9) is fused to an epigenetic modifier, to experimentally demonstrate the utility of this tool for optimizing epigenetic engineering of a plant promoter prior to in vivo plant epigenome editing...
2024: Methods in Molecular Biology
#18
JOURNAL ARTICLE
Rafael da Silva Rosa, João Pedro Rueda Furlan, Lucas David Rodrigues Dos Santos, Micaela Santana Ramos, Eduardo Angelino Savazzi, Eliana Guedes Stehling
During the COVID-19 pandemic, the occurrence of carbapenem-resistant Klebsiella pneumoniae increased in human clinical settings worldwide. Impacted by this increase, international high-risk clones harboring carbapenemase-encoding genes have been circulating in different sources, including the environment. The blaKPC gene is the most commonly disseminated carbapenemase-encoding gene worldwide, whose transmission is carried out by different mobile genetic elements. In this study, blaKPC-2 -positive Klebsiella pneumoniae complex strains were isolated from different anthropogenically affected aquatic ecosystems and characterized using phenotypic, molecular, and genomic methods...
April 24, 2024: World Journal of Microbiology & Biotechnology
#19
JOURNAL ARTICLE
Yong'An Jiang, Peng Chen, YangYang Zhao, Yan Zhang
The cadherin family plays a pivotal role in orchestrating synapse formation in the central nervous system. Cadherin-related family member 1 (CDHR1) is a photoreceptor-specific calmodulin belonging to the expansive cadherin superfamily. However, its role in traumatic brain injury (TBI) remains largely unknown. CDHR1 expression across various brain tissue sites was analyzed using the GSE104687 dataset. Employing a summary-data-based Mendelian Randomization (SMR) approach, integrated analyses were performed by amalgamating genome-wide association study abstracts from TBI with public data on expressed quantitative trait loci and DNA methylation QTL from both blood and diverse brain tissues...
April 24, 2024: Cellular and Molecular Neurobiology
#20
JOURNAL ARTICLE
Rongxing Qin, Lijuan Huang, Wei Xu, Qingchun Qin, Xiaojun Liang, Xinyu Lai, Xiaoying Huang, Minshan Xie, Li Chen
Stroke is a leading cause of death and disability, and genetic risk factors play a significant role in its development. Unfortunately, effective therapies for stroke are currently limited. Early detection and diagnosis are critical for improving outcomes and developing new treatment strategies. In this study, we aimed to identify potential biomarkers and effective prevention and treatment strategies for stroke by conducting transcriptome and single-cell analyses. Our analysis included screening for biomarkers, functional enrichment analysis, immune infiltration, cell-cell communication, and single-cell metabolism...
April 13, 2024: Functional & Integrative Genomics
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