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JOURNAL ARTICLE
Pranay Shah, Ross Hill, Camille Dion, Stephen J Clark, Abdulkadir Abakir, Jeroen Willems, Mark J Arends, Juan I Garaycoechea, Harry G Leitch, Wolf Reik, Gerry P Crossan
Mutations in DNA damage response (DDR) factors are associated with human infertility, which affects up to 15% of the population. The DDR is required during germ cell development and meiosis. One pathway implicated in human fertility is DNA translesion synthesis (TLS), which allows replication impediments to be bypassed. We find that TLS is essential for pre-meiotic germ cell development in the embryo. Loss of the central TLS component, REV1, significantly inhibits the induction of human PGC-like cells (hPGCLCs)...
May 3, 2024: Nature Communications
#2
JOURNAL ARTICLE
Dingjie Guo, Yixian Wang, Jing Chen, Xin Liu
BACKGROUND AND OBJECTIVE: The morbidity of lung adenocarcinoma (LUAD) has been increasing year by year and the prognosis is poor. This has prompted researchers to study the survival of LUAD patients to ensure that patients can be cured in time or survive after appropriate treatment. There is still no fully valid model that can be applied to clinical practice. METHODS: We introduced struc2vec-based multi-omics data integration (SBMOI), which could integrate gene expression, somatic mutations and clinical data to construct mutation gene vectors representing LUAD patient features...
April 22, 2024: Computer Methods and Programs in Biomedicine
#3
JOURNAL ARTICLE
Tianqi Tu, Jiaxing Yu, Chendan Jiang, Shikun Zhang, Jingwei Li, Jian Ren, Shiju Zhang, Yuan Zhou, Ziwei Cui, Haohan Lu, Xiaosheng Meng, Zhanjing Wang, Dong Xing, Hongqi Zhang, Tao Hong
Current treatments of brain arteriovenous malformation (BAVM) are associated with considerable risks and at times incomplete efficacy. Therefore, a clinically consistent animal model of BAVM is urgently needed to investigate its underlying biological mechanisms and develop innovative treatment strategies. Notably, existing mouse models have limited utility due to heterogenous and untypical phenotypes of AVM lesions. Here we developed a novel mouse model of sporadic BAVM that is consistent with clinical manifestations in humans...
May 3, 2024: Angiogenesis
#4
JOURNAL ARTICLE
Santiago Sucre, Andrea Bullock, Mary Linton Peters
A woman in her 60s was diagnosed with a metastatic, unresectable rare histological type of liver cancer; combined hepatocellular cholangiocarcinoma. She had palliative chemotherapy, initially with gemcitabine and cisplatin, and then with oxaliplatin, L-folinic acid and fluorouracil. Both treatment strategies demonstrated disease progression, and somatic mutation profiling revealed no actionable mutations. The patient was started on immuno-oncology (IO) with nivolumab and ipilimumab, followed by maintenance nivolumab...
May 2, 2024: BMJ Case Reports
#5
JOURNAL ARTICLE
Sharareh Kamfar, Bardia Danaei, Samane Rahimi, Vahide Zeinali
Non-alcoholic fatty liver disease (NAFLD) is an increasingly prevalent chronic liver disease characterized by an elusive etiology. In its advanced stages, this condition can pose life-threatening implications. Mitochondrial dysfunction due to its impact on hepatic lipid homeostasis, cytokine release, ROS production, and cell death, contributes to the pathogenesis of NAFLD. Previous research reveals a direct link between NAFLD genetic predictors and mitochondrial dysfunction. The emphasis on the D-loop stems from its association with impaired mtDNA replication, underscoring its crucial role in NAFLD progression...
April 30, 2024: Mitochondrion
#6
JOURNAL ARTICLE
Long Bai, Peng Li, Yu Xiang, Xiaofei Jiao, Jiyuan Chen, Licun Song, Zhongyang Liang, Yidan Liu, Yimin Zhu, Lin-Yu Lu
In the meiotic prophase, programmed DNA double-strand breaks are repaired by meiotic recombination. Recombination-defective meiocytes are eliminated to preserve genome integrity in gametes. BRCA1 is a critical protein in somatic homologous recombination, but studies have suggested that BRCA1 is dispensable for meiotic recombination. Here we show that BRCA1 is essential for meiotic recombination. Interestingly, BRCA1 also has a function in eliminating recombination-defective oocytes. Brca1 knockout (KO) rescues the survival of Dmc1 KO oocytes far more efficiently than removing CHK2, a vital component of the DNA damage checkpoint in oocytes...
May 7, 2024: Proceedings of the National Academy of Sciences of the United States of America
#7
Sabine Vautier, Jacques Mauillon, Nathalie Parodi, Jacqueline Bou, Edwige Kasper, Sandrine Manase, Claude Houdayer, Stéphanie Baert-Desurmont
Juvenile polyposis syndrome (JPS) is a rare disease characterized by multiple hamartomatous polyps in the gastrointestinal tract, associated with pathogenic variants of BMPR1A and SMAD4. We present the description of SMAD4 mosaicism in a 30-year-old man who had caecum adenocarcinoma, 11 juvenile colon polyps and epistaxis since childhood. We conducted NGS polyposis and CRC panel analysis on DNA extracted from two polyps, revealing a likely pathogenic SMAD4 variant: NM_005359.5:c. 1600C>T, p.(Gln534*). This variant was then identified at a very low frequency on blood and normal colonic tissue, by targeted visualization of previously obtained NGS data...
May 2, 2024: American Journal of Medical Genetics. Part A
#8
JOURNAL ARTICLE
Kangqi Ren, Xiean Ling, Lin Chen, Zeyao Li, Tonghai Huang
Lung adenocarcinoma (LUAD) is a major subtype of non-small-cell lung cancer and accompanies high mortality rates. While the role of bilirubin metabolism in cancer is recognized, its specific impact on LUAD and patient response to immunotherapy needs to be elucidated. This study aimed to develop a prognostic signature of bilirubin metabolism-associated genes (BMAGs) to predict outcomes and efficacy of immunotherapy in LUAD. We analysed gene expression data from The Cancer Genome Atlas (TCGA) to identify survival-related BMAGs and construct a prognostic model in LUAD...
May 2024: Journal of Cellular and Molecular Medicine
#9
JOURNAL ARTICLE
Alicia M Braxton, Ashley L Kiemen, Mia P Grahn, André Forjaz, Jeeun Parksong, Jaanvi Mahesh Babu, Jiaying Lai, Lily Zheng, Noushin Niknafs, Liping Jiang, Haixia Cheng, Qianqian Song, Rebecca Reichel, Sarah Graham, Alexander I Damanakis, Catherine G Fischer, Stephanie Mou, Cameron Metz, Julie Granger, Xiao-Ding Liu, Niklas Bachmann, Yutong Zhu, YunZhou Liu, Cristina Almagro-Pérez, Ann Chenyu Jiang, Jeonghyun Yoo, Bridgette Kim, Scott Du, Eli Foster, Jocelyn Y Hsu, Paula Andreu Rivera, Linda C Chu, Fengze Liu, Elliot K Fishman, Alan Yuille, Nicholas J Roberts, Elizabeth D Thompson, Robert B Scharpf, Toby C Cornish, Yuchen Jiao, Rachel Karchin, Ralph H Hruban, Pei-Hsun Wu, Denis Wirtz, Laura D Wood
Pancreatic intraepithelial neoplasias (PanINs) are the most common precursors of pancreatic cancer, but their small size and inaccessibility in humans make them challenging to study1 . Critically, the number, dimensions and connectivity of human PanINs remain largely unknown, precluding important insights into early cancer development. Here, we provide a microanatomical survey of human PanINs by analysing 46 large samples of grossly normal human pancreas with a machine-learning pipeline for quantitative 3D histological reconstruction at single-cell resolution...
May 1, 2024: Nature
#10
JOURNAL ARTICLE
Sergey Senkin, Sarah Moody, Marcos Díaz-Gay, Behnoush Abedi-Ardekani, Thomas Cattiaux, Aida Ferreiro-Iglesias, Jingwei Wang, Stephen Fitzgerald, Mariya Kazachkova, Raviteja Vangara, Anh Phuong Le, Erik N Bergstrom, Azhar Khandekar, Burçak Otlu, Saamin Cheema, Calli Latimer, Emily Thomas, Joshua Ronald Atkins, Karl Smith-Byrne, Ricardo Cortez Cardoso Penha, Christine Carreira, Priscilia Chopard, Valérie Gaborieau, Pekka Keski-Rahkonen, David Jones, Jon W Teague, Sophie Ferlicot, Mojgan Asgari, Surasak Sangkhathat, Worapat Attawettayanon, Beata Świątkowska, Sonata Jarmalaite, Rasa Sabaliauskaite, Tatsuhiro Shibata, Akihiko Fukagawa, Dana Mates, Viorel Jinga, Stefan Rascu, Mirjana Mijuskovic, Slavisa Savic, Sasa Milosavljevic, John M S Bartlett, Monique Albert, Larry Phouthavongsy, Patricia Ashton-Prolla, Mariana R Botton, Brasil Silva Neto, Stephania Martins Bezerra, Maria Paula Curado, Stênio de Cássio Zequi, Rui Manuel Reis, Eliney Ferreira Faria, Nei Soares de Menezes, Renata Spagnoli Ferrari, Rosamonde E Banks, Naveen S Vasudev, David Zaridze, Anush Mukeriya, Oxana Shangina, Vsevolod Matveev, Lenka Foretova, Marie Navratilova, Ivana Holcatova, Anna Hornakova, Vladimir Janout, Mark P Purdue, Nathaniel Rothman, Stephen J Chanock, Per Magne Ueland, Mattias Johansson, James McKay, Ghislaine Scelo, Estelle Chanudet, Laura Humphreys, Ana Carolina de Carvalho, Sandra Perdomo, Ludmil B Alexandrov, Michael R Stratton, Paul Brennan
International differences in the incidence of many cancer types indicate the existence of carcinogen exposures that have not yet been identified by conventional epidemiology make a substantial contribution to cancer burden1 . In clear cell renal cell carcinoma, obesity, hypertension and tobacco smoking are risk factors, but they do not explain the geographical variation in its incidence2 . Underlying causes can be inferred by sequencing the genomes of cancers from populations with different incidence rates and detecting differences in patterns of somatic mutations...
May 1, 2024: Nature
#11
JOURNAL ARTICLE
Roland Jäger, Matthias Hoke, Florian J Mayer, Stefanie Boden, Cornelia Englisch, Cihan Ay, Robert Kralovics, Christoph J Binder
BACKGROUND: The expansion of hematopoietic stem cells caused by acquired somatic mutations (clonal hematopoiesis [CH]) is a novel cardiovascular risk factor. The prognostic value of CH in patients with carotid atherosclerosis remains to be evaluated. OBJECTIVES: This study assessed the prognostic significance of CH in patients with atherosclerosis as detected by ultrasound of the carotid artery. METHODS: We applied deep sequencing of selected genomic regions within the genes DNMT3A, TET2, ASXL1, and JAK2 to screen for CH in 968 prospectively collected patients with asymptomatic carotid atherosclerosis evaluated by duplex sonography...
May 7, 2024: Journal of the American College of Cardiology
#12
JOURNAL ARTICLE
Alex Kentsis
Epidemiologic and genetic studies have now defined specific patterns of incidence and distinct molecular features of cancers in young versus aging people. Here, I review a general framework for the causes of cancer in children and young adults by relating somatic genetic mosaicism and developmental tissue mutagenesis. This framework suggests how aging-associated cancers such as carcinomas, glioblastomas, and myelodysplastic leukemias are causally distinct from cancers that predominantly affect children and young adults, including lymphoblastic and myeloid leukemias, sarcomas, neuroblastomas, medulloblastomas, and other developmental cancers...
May 1, 2024: Cold Spring Harbor Perspectives in Medicine
#13
JOURNAL ARTICLE
Hui Miao, Luo Wang, Fengying Gong, Lian Duan, Linjie Wang, Yong Yao, Ming Feng, Kan Deng, Renzhi Wang, Yu Xiao, Qing Ling, Huijuan Zhu, Lin Lu
OBJECTIVE: Somatic variants in the ubiquitin-specific protease 8 (USP8) gene are the most common genetic cause of Cushing disease. We aimed to explore the relationship between clinical outcomes and USP8 status in a single centre. DESIGN, PATIENTS AND MEASUREMENTS: We investigated the USP8 status in 48 patients with pituitary corticotroph tumours. A median of 62 months of follow-up was conducted after surgery from November 2013 to January 2015. The clinical, biochemical and imaging features were collected and analysed...
May 1, 2024: Clinical Endocrinology
#14
JOURNAL ARTICLE
Katrina O'Halloran, Hesamedin Hakimjavadi, Moiz Bootwalla, Dejerianne Ostrow, Rhea Kerawala, Jennifer A Cotter, Venkata Yellapantula, Kristiyana Kaneva, Nitin R Wadhwani, Amy Treece, Nicholas K Foreman, Sanda Alexandrescu, Jose Velazquez Vega, Jaclyn A Biegel, Xiaowu Gai
Little is known regarding the genomic alterations in chordoma, with the exception of loss of SMARCB1, a core member of the SWI/SNF complex, in poorly differentiated chordomas. A TBXT duplication and rs2305089 polymorphism, located at 6q27, are known genetic susceptibility loci. A comprehensive genomic analysis of the nuclear and mitochondrial genomes in pediatric chordoma has not yet been reported. In this study, we performed whole exome and mitochondrial DNA (mtDNA) genome sequencing on 29 chordomas from 23 pediatric patients...
May 1, 2024: Molecular Cancer Research: MCR
#15
JOURNAL ARTICLE
Dylan J Finneran, Taylor Desjarlais, Alayna Henry, Brianna M Jackman, Marcia N Gordon, David Morgan
INTRODUCTION: Alzheimer's disease (AD) is a progressive neurodegenerative disease in which extracellular aggregates of the amyloid beta (Aβ) peptide precede widespread intracellular inclusions of the microtubule-associated protein tau. The autosomal dominant form of AD requires mutations that increase production or aggregation of the Aβ peptide. This has led to the hypothesis that amyloid deposition initiates downstream responses that lead to the hyperphosphorylation and aggregation of tau...
2024: Alzheimer's & Dementia: Translational Research & Clinical Interventions
#16
REVIEW
Ilaria Iacobucci
In Blood Cancer Discovery, Saygin and colleagues report that somatic variants that are recurrent in myeloid malignancies can also occur with high frequency (16%) in adult acute lymphoblastic leukemia (ALL) where they correlate with older age, diagnosis following genotoxic therapy for a prior malignancy and worse outcome to chemotherapy. Mutations in these "myeloid" genes can precede ALL diagnosis and arise in hematopoietic stem or progenitor cells that clonally expand and differentiate into both lymphoblasts and nonmalignant myeloid cells, supporting a role for clonal hematopoiesis as premalignant state outside the context of myeloid malignancies and providing implications for both ALL etiology and therapeutic intervention...
May 1, 2024: Blood cancer discovery
#17
JOURNAL ARTICLE
Manuel Scimeca, Julia Bischof, Rita Bonfiglio, Elisabetta Nale, Valerio Iacovelli, Marco Carilli, Matteo Vittori, Massimiliano Agostini, Valentina Rovella, Francesca Servadei, Erica Giacobbi, Eleonora Candi, Yufang Shi, Gerry Melino, Alessandro Mauriello, Pierluigi Bove
The increasing incidence of urothelial bladder cancer is a notable global concern, as evidenced by the epidemiological data in terms of frequency, distribution, as well as mortality rates. Although numerous molecular alterations have been linked to the occurrence and progression of bladder cancer, currently there is a limited knowledge on the molecular signature able of accurately predicting clinical outcomes. In this report, we present a case of a pT3b high-grade infiltrating urothelial carcinoma with areas of squamous differentiation characterized by very high tumor mutational burden (TMB), with up-regulations of immune checkpoints...
April 30, 2024: Cell Death Discovery
#18
JOURNAL ARTICLE
Daniela Cesana, Maria Pia Cicalese, Andrea Calabria, Pietro Merli, Roberta Caruso, Monica Volpin, Laura Rudilosso, Maddalena Migliavacca, Federica Barzaghi, Claudia Fossati, Francesco Gazzo, Simone Pizzi, Andrea Ciolfi, Alessandro Bruselles, Francesca Tucci, Giulio Spinozzi, Giulia Pais, Fabrizio Benedicenti, Matteo Barcella, Ivan Merelli, Pierangela Gallina, Stefania Giannelli, Francesca Dionisio, Serena Scala, Miriam Casiraghi, Luisa Strocchio, Luciana Vinti, Lucia Pacillo, Eleonora Draghi, Marcella Cesana, Sara Riccardo, Chiara Colantuono, Emmanuelle Six, Marina Cavazzana, Filippo Carlucci, Manfred Schmidt, Caterina Cancrini, Fabio Ciceri, Luca Vago, Davide Cacchiarelli, Bernhard Gentner, Luigi Naldini, Marco Tartaglia, Eugenio Montini, Franco Locatelli, Alessandro Aiuti
Hematopoietic stem cell gene therapy (GT) using a γ-retroviral vector (γ-RV) is an effective treatment for Severe Combined Immunodeficiency due to Adenosine Deaminase deficiency. Here, we describe a case of GT-related T-cell acute lymphoblastic leukemia (T-ALL) that developed 4.7 years after treatment. The patient underwent chemotherapy and haploidentical transplantation and is currently in remission. Blast cells contain a single vector insertion activating the LIM-only protein 2 (LMO2) proto-oncogene, confirmed by physical interaction, and low Adenosine Deaminase (ADA) activity resulting from methylation of viral promoter...
April 30, 2024: Nature Communications
#19
JOURNAL ARTICLE
Human-mouse comparison of the multistage nature of radiation carcinogenesis in a mathematical model.
Tatsuhiko Imaoka, Satoshi Tanaka, Masanori Tomita, Kazutaka Doi, Megumi Sasatani, Keiji Suzuki, Yutaka Yamada, Shizuko Kakinuma, Michiaki Kai
Mouse models are vital for assessing risk from environmental carcinogens, including ionizing radiation, yet the interspecies difference in the dose response precludes direct application of experimental evidence to humans. Herein, we take a mathematical approach to delineate the mechanism underlying the human-mouse difference in radiation-related cancer risk. We used a multistage carcinogenesis model assuming a mutational action of radiation to analyze previous data on cancer mortality in the Japanese atomic bomb survivors and in lifespan mouse experiments...
April 30, 2024: International Journal of Cancer. Journal International du Cancer
#20
JOURNAL ARTICLE
Yuanyuan Li, Ning Wang, Guoyue Yang
BACKGROUND: Patients with head and neck squamous cell carcinoma (HNSCC) exhibit unfavorable clinical outcomes, accompanied by high morbidity/mortality. In recent years, the management of HNSCC has encountered a significant obstacle. Z-DNA binding protein 1 (ZBP1) exerts crucial biological functions in chronic inflammatory disease and cancer. The aim of this research was to identify the possible function of ZBP1 in HNSCC. METHODS: The Cancer Genome Atlas (TCGA) database was used to collect the gene expression profile and corresponding clinical data...
April 28, 2024: Journal of Stomatology, Oral and Maxillofacial Surgery
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