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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
#2
Mirza Muhammad Fahd Qadir, Ruth M Elgamal, Keijing Song, Parul Kudtarkar, Siva S V P Sakamuri, Prasad V Katakam, Samir El-Dahr, Jay Kolls, Kyle J Gaulton, Franck Mauvais-Jarvis
Biological sex affects the pathogenesis of type 2 and type 1 diabetes (T2D, T1D) including the development of β cell failure observed more often in males. The mechanisms that drive sex differences in β cell failure is unknown. Studying sex differences in islet regulation and function represent a unique avenue to understand the sex-specific heterogeneity in β cell failure in diabetes. Here, we examined sex and race differences in human pancreatic islets from up to 52 donors with and without T2D (including 37 donors from the Human Pancreas Analysis Program [HPAP] dataset) using an orthogonal series of experiments including single cell RNA-seq (scRNA-seq), single nucleus assay for transposase-accessible chromatin sequencing (snATAC-seq), dynamic hormone secretion, and bioenergetics...
April 14, 2024: bioRxiv
#3
JOURNAL ARTICLE
Maoxiao Feng, Chengwei Chai, Xiaodong Hao, Xiaojiang Lai, Yuanyuan Luo, Hong Zhang, Wenzhu Tang, Ningxin Gao, Guihong Pan, Xiaojie Liu, Yunshan Wang, Wenjing Xiong, Qiang Wu, Jun Wang
Childhood onset of colorectal signet-ring cell carcinoma (CR-SRCC) is extremely rare and featured as highly malignant with poor prognosis. Here we reported a CR-SRCC case of 11-year-old boy with a novel inherited X-linked KDM6AA694T mutation. The H3K27me3 demethylase KDM6A was frequently mutated in varieties of tumors and acts as a tumor suppressor. In vivo H3K27me3 demethylation assay demonstrated that KDM6AA694T had dampened H3K27me3 demethylase activity. Overexpression of KDM6AA694T in SRCC cell line KATO3 promoted cell proliferation, invasion and migration, which were further confirmed in vivo by constructing orthotopic tumor growth and lung metastasis model...
April 15, 2024: Oncogene
#4
JOURNAL ARTICLE
Jianhai Chen, Yangying Jia, Jie Zhong, Kun Zhang, Hongzheng Dai, Guanglin He, Fuping Li, Li Zeng, Chuanzhu Fan, Huayan Xu
BACKGROUND: As one of the most common congenital abnormalities in male births, cryptorchidism has been found to have a polygenic aetiology according to previous studies of common variants. However, little is known about genetic predisposition of rare variants for cryptorchidism, since rare variants have larger effective size on diseases than common variants. METHODS: In this study, a cohort of 115 Chinese probands with cryptorchidism was analysed using whole-genome sequencing, alongside 19 parental controls and 2136 unaffected men...
April 15, 2024: Journal of Medical Genetics
#5
JOURNAL ARTICLE
Leila Shobab, Hui Zheng, Kirk Jensen, Maria Cecilia Mendonca-Torres, Matthew McCoy, Victoria Hoperia, Jennifer Rosen, Leonard Wartofsky, Kenneth Burman, Vasyl Vasko
BACKGROUND: The incidence of thyroid cancer in women is 3-4-fold higher than in men. To characterize sex-specific molecular alterations in thyroid cancer, we examined the expression of sex-biased genes in normal thyroids and thyroid tumors. METHODS: Ingenuity pathways analysis was used to define sex-biased gene networks using data from the Cancer Genome Atlas (TCGA). Confirmatory studies were performed through the analysis of histone lysine demethylases (KDMs) expression by real-time PCR and immunostaining...
March 23, 2024: Cancers
#6
JOURNAL ARTICLE
Ningjun Duan, Yijia Hua, Xueqi Yan, Yaozhou He, Tianyu Zeng, Jue Gong, Ziyi Fu, Wei Li, Yongmei Yin
tRNA-derived fragments (tRFs) play crucial roles in cancer progression. Among them, tRF-27 has been identified as a key factor in promoting naïve trastuzumab resistance in HER2-positive breast cancer. However, the origin of tRF-27 remains uncertain. In this study, we propose that the upregulated expression of specific cysteine tRNAs may lead to the increased accumulation of tRF-27 in trastuzumab-resistant JIMT1 cells. Mechanistically, the reduced inhibitory H3K27me3 modification at the promoter regions of tRF-27-related tRNA genes in JIMT1 cells, potentially resulting from decreased EZH2 and increased KDM6A activity, may be a critical factor stimulating the transcriptional activity of these tRNA genes...
March 11, 2024: Cancers
#7
JOURNAL ARTICLE
Chengjun Li, Tian Qin, Jinyun Zhao, Yuxin Jin, Yiming Qin, Rundong He, Tianding Wu, Chunyue Duan, Liyuan Jiang, Feifei Yuan, Hongbin Lu, Yong Cao, Jianzhong Hu
Cellular senescence assumes pivotal roles in various diseases through the secretion of proinflammatory factors. Despite extensive investigations into vascular senescence associated with aging and degenerative diseases, the molecular mechanisms governing microvascular endothelial cell senescence induced by traumatic stress, particularly its involvement in senescence-induced inflammation, remain insufficiently elucidated. In this study, we present a comprehensive demonstration and characterization of microvascular endothelial cell senescence induced by spinal cord injury (SCI)...
March 25, 2024: Bone Research
#8
JOURNAL ARTICLE
Carly J Amato-Menker, Quinn Hopen, Andrea Pettit, Jasleen Gandhi, Gangqing Hu, Rosana Schafer, Jennifer Franko
BACKGROUND: Differences in male vs. female immune responses are well-documented and have significant clinical implications. While the immunomodulatory effects of sex hormones are well established, the contributions of sex chromosome complement (XX vs. XY) and gut microbiome diversity on immune sexual dimorphisms have only recently become appreciated. Here we investigate the individual and collaborative influences of sex chromosome complements and gut microbiota on humoral immune activation...
March 14, 2024: Biology of Sex Differences
#9
JOURNAL ARTICLE
Sergi Clotet-Freixas, Olga Zaslaver, Max Kotlyar, Chiara Pastrello, Andrew T Quaile, Caitriona M McEvoy, Aninda D Saha, Sofia Farkona, Alex Boshart, Katarina Zorcic, Slaghaniya Neupane, Kieran Manion, Maya Allen, Michael Chan, Xuqi Chen, Arthur P Arnold, Peggy Sekula, Inga Steinbrenner, Anna Köttgen, Allison B Dart, Brandy Wicklow, Jon M McGavock, Tom D Blydt-Hansen, Clara Barrios, Marta Riera, María José Soler, Amandine Isenbrandt, Jérôme Lamontagne-Proulx, Solène Pradeloux, Katherine Coulombe, Denis Soulet, Shravanthi Rajasekar, Boyang Zhang, Rohan John, Aman Mehrotra, Adam Gehring, Maija Puhka, Igor Jurisica, Minna Woo, James W Scholey, Hannes Röst, Ana Konvalinka
Diabetic kidney disease (DKD) is the main cause of chronic kidney disease (CKD) and progresses faster in males than in females. We identify sex-based differences in kidney metabolism and in the blood metabolome of male and female individuals with diabetes. Primary human proximal tubular epithelial cells (PTECs) from healthy males displayed increased mitochondrial respiration, oxidative stress, apoptosis, and greater injury when exposed to high glucose compared with PTECs from healthy females. Male human PTECs showed increased glucose and glutamine fluxes to the TCA cycle, whereas female human PTECs showed increased pyruvate content...
March 6, 2024: Science Translational Medicine
#10
JOURNAL ARTICLE
Chloé Bianchi, Henri Margot, Helder Fernandes, Marlène Pasquet, Laurence Priqueler, Frédérique Roy-Peaud, Frédéric Bauduer, Sophie Bayart, Nathalie Garnier, Olivier Fain, Julien Van Gils, Sandrine Baron Joly, Fanny Rialland, Catherine Paillard, Marianna Deparis, Anne Lambilliotte, Thierry Leblanc, Mony Fahd, Guy Leverger, Sébastien Héritier, David Geneviève, Frédéric Rieux-Laucat, Capucine Picard, Caroline Neyraud, Nathalie Aladjidi
Kabuki syndrome (KS) is now listed in the Human Inborn Errors of Immunity (IEI) Classification. It is a rare disease caused by KMT2D and KDM6A variants, dominated by intellectual disability and characteristic facial features. Recurrently, pathogenic variants are identified in those genes in patients examined for autoimmune cytopenia (AIC), but interpretation remains challenging. This study aims to describe the genetic diagnosis and the clinical management of patients with paediatric-onset AIC and KS. Among 11 patients with AIC and KS, all had chronic immune thrombocytopenic purpura, and seven had Evans syndrome...
March 3, 2024: British Journal of Haematology
#11
JOURNAL ARTICLE
Shreya Sharma, Harsha Rani, Yeshwanth Mahesh, Mohit Kumar Jolly, Jagannath Dixit, Vijayalakshmi Mahadevan
Epithelial to Mesenchymal transition (EMT) drives cancer metastasis and is governed by genetic and epigenetic alterations at multiple levels of regulation. It is well established that loss/mutation of p53 confers oncogenic function to cancer cells and promotes metastasis. Though transcription factors like ZEB1, SLUG, SNAIL and TWIST have been implied in EMT signalling, p53 mediated alterations in the epigenetic machinery accompanying EMT are not clearly understood. This work attempts to explore epigenetic signalling during EMT in colorectal cancer (CRC) cells with varying status of p53...
February 26, 2024: Translational Oncology
#12
Daphne Dupéré-Richer, Alberto Riva, Sayantan Maji, Benjamin G Barwick, Heidi Casellas Román, Amin Sobh, Gabrielle Quickstad, Jianping Li, Umasankar De, Crissandra Piper, Marta Kulis, Teresa Ezponda, José Ignacio Martin-Subero, Giovanni Tonon, Weizhou Zhang, Constantine S Mitsiades, Lawrence H Boise, Richard L Bennett, Jonathan D Licht
UNLABELLED: The histone H3K27 demethylase KDM6A is a tumor suppressor in multiple cancers, including multiple myeloma (MM). We created isogenic MM cells disrupted for KDM6A and tagged the endogenous protein to facilitate genome wide studies. KDM6A binds genes associated with immune recognition and cytokine signaling. Most importantly, KDM6A binds and activates NLRC5 and CIITA encoding regulators of Major Histocompatibility Complex (MHC) genes. Patient data indicate that NLRC5 and CIITA, are downregulated in MM with low KDM6A expression...
February 12, 2024: bioRxiv
#13
JOURNAL ARTICLE
Iñaki Schniewind, Maria José Besso, Sebastian Klicker, Franziska Maria Schwarz, Wahyu Wijaya Hadiwikarta, Susan Richter, Steffen Löck, Annett Linge, Mechthild Krause, Anna Dubrovska, Michael Baumann, Ina Kurth, Claudia Peitzsch
(1) Background: The sensitivity of head and neck squamous cell carcinoma (HNSCC) to ionizing radiation, among others, is determined by the number of cells with high clonogenic potential and stem-like features. These cellular characteristics are dynamically regulated in response to treatment and may lead to an enrichment of radioresistant cells with a cancer stem cell (CSC) phenotype. Epigenetic mechanisms, particularly DNA and histone methylation, are key regulators of gene-specific transcription and cellular plasticity...
February 9, 2024: Cancers
#14
JOURNAL ARTICLE
Yirou Wang, Yufei Xu, Yao Chen, Yabin Hu, Qun Li, Shijian Liu, Jian Wang, Xiumin Wang
BACKGROUND: Kabuki syndrome (KS) is a monogenic disorder leading to special facial features, mental retardation, and multiple system malformations. Lysine demethylase 6A, (KDM6A, MIM*300128) is the pathogenic gene of Kabuki syndrome type 2 (KS2, MIM#300867), which accounts for only 5%-8% of KS. Previous studies suggested that female patients with KS2 may have a milder phenotype. METHOD: We summarized the phenotype and genotype of KS2 patients who were diagnosed in Shanghai Children's Medical Center since July 2017 and conducted a 1:3 matched case-control study according to age and sex to investigate sex-specific differences between patients with and without KS2...
February 19, 2024: BMC Pediatrics
#15
JOURNAL ARTICLE
Jacqueline Feinberg, Arnaud Da Cruz Paula, Edaise M da Silva, Fresia Pareja, Juber Patel, Yingjie Zhu, Pier Selenica, Mario M Leitao, Nadeem R Abu-Rustum, Jorge S Reis-Filho, Amy Joehlin-Price, Britta Weigelt
OBJECTIVE: Adenoid cystic carcinoma (AdCC) of the Bartholin's gland (AdCC-BG) is a very rare gynecologic vulvar malignancy. AdCC-BGs are slow-growing but locally aggressive and are associated with high recurrence rates. Here we sought to characterize the molecular underpinning of AdCC-BGs. METHODS: AdCC-BGs (n = 6) were subjected to a combination of RNA-sequencing, targeted DNA-sequencing, reverse-transcription PCR, fluorescence in situ hybridization (FISH) and MYB immunohistochemistry (IHC)...
February 17, 2024: Gynecologic Oncology
#16
JOURNAL ARTICLE
Jiye Liu, Lijie Xing, Jiang Li, Kenneth Wen, Ning Liu, Yuntong Liu, Gongwei Wu, Su Wang, Daisuke Ogiya, Tian-Yu Song, Keiji Kurata, Johany Penailillo, Eugenio Morelli, Tingjian Wang, Xiaoning Hong, Annamaria Gulla, Yu-Tzu Tai, Nikhil Munshi, Paul Richardson, Ruben Carrasco, Teru Hideshima, Kenneth C Anderson
Anti-CD38 monoclonal antibodies like Daratumumab (Dara) are effective in multiple myeloma (MM); however, drug resistance ultimately occurs and the mechanisms behind this are poorly understood. Here, we identify, via two in vitro genome-wide CRISPR screens probing Daratumumab resistance, KDM6A as an important regulator of sensitivity to Daratumumab-mediated antibody-dependent cellular cytotoxicity (ADCC). Loss of KDM6A leads to increased levels of H3K27me3 on the promoter of CD38, resulting in a marked downregulation in CD38 expression, which may cause resistance to Daratumumab-mediated ADCC...
February 14, 2024: Nature Communications
#17
JOURNAL ARTICLE
Mandy I Cheng, Lee Hong, Christian Bustillos, Bryan Chen, Scott Chin, Christopher R Luthers, Au Vo, Shehzad Z Sheikh, Maureen A Su
Hypoxia is a hallmark of inflammatory conditions (e.g., inflammatory bowel disease [IBD]), and adaptive responses have consequently evolved to protect against hypoxia-associated tissue injury. Because augmenting hypoxia-induced protective responses is a promising therapeutic approach for IBD, a more complete understanding of these pathways is needed. Recent work has demonstrated that the histone demethylase UTX is oxygen-sensitive, but its role in IBD is unclear. In this study, we show that hypoxia-induced deactivation of UTX downregulates T cell responses in mucosal inflammation...
February 14, 2024: Journal of Immunology
#18
JOURNAL ARTICLE
Deepak Verma, Shruti Kapoor, Sarita Kumari, Disha Sharma, Jay Singh, Mercilena Benjamin, Sameer Bakhshi, Rachna Seth, Baibaswata Nayak, Atul Sharma, Raja Pramanik, Jayanth Kumar Palanichamy, Sridhar Sivasubbu, Vinod Scaria, Mohit Arora, Rajive Kumar, Anita Chopra
T-acute lymphoblastic leukemia (T-ALL) is a heterogeneous malignancy characterized by the abnormal proliferation of immature T-cell precursors. Despite advances in immunophenotypic classification, understanding the molecular landscape and its impact on patient prognosis remains challenging. In this study, we conducted comprehensive RNA sequencing in a cohort of 35 patients with T-ALL to unravel the intricate transcriptomic profile. Subsequently, we validated the prognostic relevance of 23 targets, encompassing (i) protein-coding genes- BAALC , HHEX , MEF2C , FAT1 , LYL1 , LMO2 , LYN , and TAL1 ; (ii) epigenetic modifiers- DOT1L , EP300 , EML4 , RAG1 , EZH2 , and KDM6A ; and (iii) long noncoding RNAs (lncRNAs)- XIST , PCAT18 , PCAT14 , LINC00202 , LINC00461 , LINC00648 , ST20 , MEF2C-AS1 , and MALAT1 in an independent cohort of 99 patients with T-ALL...
February 2024: PNAS Nexus
#19
JOURNAL ARTICLE
Anchal Chauhan, Siddhartha Gangopadhyay, Vineeta Sharma, Sukhveer Singh, Kavita Koshta, Dhirendra Singh, Kausar M Ansari, Vikas Srivastava
Chronic exposure to arsenic (As) promotes skin carcinogenesis in humans and potentially disturbs resident stem cell dynamics, particularly during maternal and early life exposure. In the present study, we demonstrate how only prenatal arsenic exposure disturbs keratinocyte stem cell (KSC) conditioning using a BALB/c mice model. Prenatal As exposure alters the normal stemness (CD34, KRT5), differentiation (Involucrin), and proliferation (PCNA) program in skin of offspring with progression of age as observed at 2, 10, and 18 weeks...
February 1, 2024: Molecular Carcinogenesis
#20
JOURNAL ARTICLE
Lucas D Caeiro, Yuichiro Nakata, Rodrigo L Borges, Mengsheng Zha, Liliana Garcia-Martinez, Carolina P Bañuelos, Stephanie Stransky, Tong Liu, Ho Lam Chan, John Brabson, Diana Domínguez, Yusheng Zhang, Peter W Lewis, Salvador Aznar Benitah, Luisa Cimmino, Daniel Bilbao, Simone Sidoli, Zheng Wang, Ramiro E Verdun, Lluis Morey
Approximately 20% of head and neck squamous cell carcinomas (HNSCCs) exhibit reduced methylation on lysine 36 of histone H3 (H3K36me) due to mutations in histone methylase NSD1 or a lysine-to-methionine mutation in histone H3 (H3K36M). Whether such alterations of H3K36me can be exploited for therapeutic interventions is still unknown. Here, we show that HNSCC models expressing H3K36M can be divided into two groups: those that display aberrant accumulation of H3K27me3 and those that maintain steady levels of H3K27me3...
January 29, 2024: Genes & Development
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