keyword
https://read.qxmd.com/read/38520738/real-world-evidence-risdiplam-in-a-patient-with-spinal-muscular-atrophy-type-i-with-a-novel-splicing-mutation-and-one-smn2-copy
#21
JOURNAL ARTICLE
Kai Ma, Kaihui Zhang, Defang Chen, Chuan Wang, Mohnad Abdalla, Haozheng Zhang, Rujin Tian, Yang Liu, Li Song, Xinyi Zhang, Fangfang Liu, Guohua Liu, Dong Wang
Spinal muscular atrophy (SMA), which results from the deletion or/and mutation in the SMN1 gene, is an autosomal recessive neuromuscular disorder that leads to weakness and muscle atrophy. SMN2 is a paralogous gene of SMN1. SMN2 copy number affects the severity of SMA, but its role in patients treated with disease modifying therapies is unclear. The most appropriate individualized treatment for SMA has not yet been determined. Here, we reported a case of SMA type I with normal breathing and swallowing function...
March 23, 2024: Human Molecular Genetics
https://read.qxmd.com/read/38520296/toll-like-receptor-4-tlr4-gene-polymorphism-and-its-association-with-somatic-cell-score-and-milk-production-traits-in-indian-dromedary-camels
#22
JOURNAL ARTICLE
Seema Bishnoi, Basanti Jyotsana, Virendra Kumar, Ved Prakash, Rakesh Ranjan, Shirish Dadarao Narnaware, Urmila Pannu
Our study aimed to explore the genetic variation in the Toll-like receptor 4 (TLR4) gene and establish its association with somatic cell score (SCS) and milk production traits in four Indian camel breeds namely Bikaneri, Kachchhi, Jaisalmeri and Mewari. TLR4 gene fragment of 573 bp spanning 5' UTR, exon-1 and partial intron-1 region was amplified and genotyped using the PCR-sequence based typing method. Only one SNP located at position C472T was identified. Genotyping revealed two alleles (C and T) and three genotypes: CC, CT and TT...
March 23, 2024: Animal Biotechnology
https://read.qxmd.com/read/38515748/innovative-prognostic-modeling-in-escc-leveraging-scrna-seq-and-bulk-rna-for-dendritic-cell-heterogeneity-analysis
#23
JOURNAL ARTICLE
Mengnan Shi, Han Zhang, Linnan Ma, Xiaoting Wang, Daqiang Sun, Zhijie Feng
BACKGROUND: Globally, esophageal squamous cell carcinoma (ESCC) stands out as a common cancer type, characterized by its notably high rates of occurrence and mortality. Recent advancements in treatment methods, including immunotherapy, have shown promise, yet the prognosis remains poor. In the context of tumor development and treatment outcomes, the tumor microenvironment (TME), especially the function of dendritic cells (DCs), is significantly influential. Our study aims to delve deeper into the heterogeneity of DCs in ESCC using single-cell RNA sequencing (scRNA-seq) and bulk RNA analysis...
2024: Frontiers in Immunology
https://read.qxmd.com/read/38515694/immunogenic-cell-death-related-mrnas-associated-signature-to-predict-immunotherapeutic-response-in-osteosarcoma
#24
JOURNAL ARTICLE
Shuai Han, Qinghe Wang, Mingquan Shen, Xingpeng Zhang, Jian Wang
BACKGROUND: Immunogenic cell death (ICD) is related to cancer prognosis, which has a synergic effect in combination with chemotherapy or immunotherapy. Yet, the relationship between ICD and osteosarcoma remained unclear. MATERIALS AND METHODS: Three osteosarcoma datasets including therapeutically applicable research to generate effective treatments (TARGET), GSE126209 and GSE21257 datasets were included. A protein-protein interaction network was constructed based on ICD-related genes...
March 30, 2024: Heliyon
https://read.qxmd.com/read/38513536/prognostic-gene-landscapes-and-therapeutic-insights-in-sepsis-induced-coagulopathy
#25
JOURNAL ARTICLE
Xiaoli Ran, Jun Zhang, Yinyu Wu, Yunxia Du, Daiqin Bao, Haoyu Pei, Yue Zhang, Xiaoqiong Zhou, Rui Li, Xu Tang, Han She, Qingxiang Mao
BACKGROUND: Sepsis is a common and critical condition encountered in clinical practice that can lead to multi-organ dysfunction. Sepsis-induced coagulopathy (SIC) significantly affects patient outcomes. However, the precise mechanisms remain unclear, making the identification of effective prognostic and therapeutic targets imperative. METHODS: The analysis of transcriptome data from the whole blood of sepsis patients, facilitated the identification of key genes implicated in coagulation...
March 12, 2024: Thrombosis Research
https://read.qxmd.com/read/38512889/renal-graft-function-in-transplanted-patients-correlates-with-cd45rc-t-cell-phenotypic-signature
#26
JOURNAL ARTICLE
Séverine Bézie, Céline Sérazin, Elodie Autrusseau, Nadège Vimond, Magali Giral, Ignacio Anegon, Carole Guillonneau
Biomarkers that could predict the evolution of the graft in transplanted patients and that could allow to adapt the care of the patients would be an invaluable tool. Additionally, certain biomarkers can be target of treatments and help to stratify patients. Potential effective biomarkers have been identified but still need to be confirmed. CD45RC, one of the splicing variants of the CD45 molecule, a tyrosine phosphatase that is critical in negatively or positively regulating the TCR and the BCR signaling, is one marker already described...
2024: PloS One
https://read.qxmd.com/read/38512709/prognostic-signature-in-osteosarcoma-based-on-amino-acid-metabolism-associated-genes
#27
JOURNAL ARTICLE
Liwen Feng, Yuting Chen, Xiangping Mei, Lei Wang, Wenjing Zhao, Jiannan Yao
Background: Osteosarcoma (OS) is undeniably a formidable bone malignancy characterized by a scarcity of effective treatment options. Reprogramming of amino acid (AA) metabolism has been associated with OS development. The present study was designed to identify metabolism-associated genes (MAGs) that are differentially expressed in OS and to construct a MAG-based prognostic risk signature for this disease. Methods: Expression profiles and clinicopathological data were downloaded from Gene Expression Omnibus (GEO) and UCSC Xena databases...
March 21, 2024: Cancer Biotherapy & Radiopharmaceuticals
https://read.qxmd.com/read/38511041/long-term-complete-response-with-single-agent-capecitabine-in-her-2-neu-positive-metastatic-breast-cancer-a-rare-case-report
#28
Mukesh Rulaniya, Manish Sahni, Sandeep Jasuja, Suresh Singh
The standard treatment approach for metastatic breast cancer with HR- and Her-2-neu + disease is trastuzumab with systemic therapy. But in patients having severe cardiac dysfunction, trastuzumab is avoided. Various combination regimens are available in that setting, but no study has shown better efficacy of capecitabine monotherapy in this setting. We hereby present a case report of using capecitabine monotherapy in first-line setting, and the patient had complete resolution of lung metastasis from the last 2 years...
March 2024: Indian Journal of Surgical Oncology
https://read.qxmd.com/read/38510207/stimulated-human-umbilical-cord-mesenchymal-stem-cells-enhance-the-osteogenesis-and-cranial-bone-regeneration-through-il-32-mediated-p38-signaling-pathway
#29
JOURNAL ARTICLE
Xiaru Zhang, Ying Zheng, Gang Wang, Yuanlin Liu, Yang Wang, Xueyi Jiang, Yueqing Liang, Xinfeng Zhao, Ping Li, Yi Zhang
OBJECTIVE: Our previous study found that it could significantly increase the expression of IL32 after stimulating the human umbilical cord mesenchymal stem cells (S-HuMSCs). However, its role on the osteogenesis and cranial bone regeneration is still largely unknown. Here, we investigated the possible mechanism of this effect. Material and Methods . A series of experiments, including single-cell sequencing, flow cytometry, quantitative real-time polymerase chain reaction, and western blotting, were carried out to evaluate the characteristic and adipogenic-osteogenic differentiation potential of IL-32 overexpression HuMSCs (IL-32high HuMSCs) through mediating the P38 signaling pathway...
2024: Stem Cells International
https://read.qxmd.com/read/38509903/identification-of-estrogen-response-associated-stra6-granulosa-cells-within-high-grade-serous-ovarian-carcinoma-by-single-cell-sequencing
#30
JOURNAL ARTICLE
Xiaoting Liu, Zhaojun Chen, Lahong Zhang
BACKGROUND: High-grade serous ovarian carcinoma (HGSOC) is a pathologic subtype of ovarian cancer (OC) with a more lethal prognosis. Extensive heterogeneity results in HGSOC being more susceptible to treatment resistance and adverse treatment effects. Revealing the heterogeneity involved is crucial. METHODS: We downloaded the single-cell RNA-seq (scRNA) data from GEO database and performed a scRNA analysis for cell landscape of HGSOC by using the Seurat package...
March 30, 2024: Heliyon
https://read.qxmd.com/read/38509727/flrt3-and-tgf-%C3%AE-smad4-signalling-impacts-on-apoptosis-autophagy-and-ion-channels-in-supraventricular-tachycardia
#31
JOURNAL ARTICLE
Yang Pang, Ye Xu, Qingxing Chen, Kuan Cheng, Yunlong Ling, Jun Jang, Junbo Ge, Wenqing Zhu
To explore the underlying molecular mechanisms of supraventricular tachycardia (SVT), this study aimed to analyse the complex relationship between FLRT3 and TGF-β/SMAD4 signalling pathway, which affects Na+ and K+ channels in cardiomyocytes. Bioinformatics analysis was performed on 85 SVT samples and 15 healthy controls to screen overlapping genes from the key module and differentially expressed genes (DEGs). Expression profiling of overlapping genes, coupled with Receiver Operating Characteristic (ROC) curve analyses, identified FLRT3 as a hub gene...
April 2024: Journal of Cellular and Molecular Medicine
https://read.qxmd.com/read/38509389/impact-of-bk-polyomavirus-viremia-on-the-outcomes-of-allogeneic-hematopoietic-stem-cell-transplantation
#32
JOURNAL ARTICLE
Yoshihiro Umezawa, Kota Yoshifuji, Keisuke Tanaka, Ayako Nogami, Katsutoshi Nagano, Ayako Tsuji, Toshikage Nagao, Masahide Yamamoto, Michiko Kajiwara, Shuji Tohda, Takehiko Mori
Although it is known that BK polyomavirus (BKPyV) causes hemorrhagic cystitis (HC) after allogeneic hematopoietic stem cell transplantation (HSCT), the clinical significance of BKPyV viremia has not been fully evaluated. We retrospectively analyzed the results of quantitative polymerase chain reaction (PCR) evaluations for detecting BKPyV in the whole blood samples of patients undergoing allogeneic HSCT during the period from January 2010 to June 2020 at a single institute, Tokyo Medical and Dental University...
March 21, 2024: Annals of Hematology
https://read.qxmd.com/read/38508536/host-single-nucleotide-polymorphisms-and-biomarkers-of-neuronal-damage-and-inflammation-in-people-living-with-hiv
#33
JOURNAL ARTICLE
Jessica Cusato, Alessandra Manca, Alice Palermiti, Jacopo Mula, Valeria Avataneo, Miriam Antonucci, Letizia Marinaro, Stefano Bonora, Mattia Trunfio, Giovanni Di Perri, Antonio D'Avolio, Andrea Calcagno
BACKGROUND: Blood brain barrier impairment is frequent in people living with HIV (PLWH), affecting the penetration of target cells and antiretrovirals into the central nervous system, through transporters (e.g. ABCB1), leading to neuroinflammation. OBJECTIVES: The aim of this study was to identify variants of genes encoding transporters able to predict neuroinflammation biomarker levels. MATERIALS AND METHODS: Cerebrospinal fluid (CSF) and plasma samples were obtained from PLWH...
March 18, 2024: International Journal of Antimicrobial Agents
https://read.qxmd.com/read/38506705/single-cell-rna-sequencing-identifies-response-of-renal-lymphatic-endothelial-cells-to-acute-kidney-injury
#34
JOURNAL ARTICLE
Heidi A Creed, Saranya Kannan, Brittany L Tate, David Godefroy, Priyanka Banerjee, Brett M Mitchell, Ebba Brakenhielm, Sanjukta Chakraborty, Joseph M Rutkowski
SIGNIFICANCE STATEMENT: The renal lymphatic vasculature and the lymphatic endothelial cells that make up this network play important immunomodulatory roles during inflammation. How lymphatics respond to AKI may affect AKI outcomes. The authors used single-cell RNA sequencing to characterize mouse renal lymphatic endothelial cells in quiescent and cisplatin-injured kidneys. lymphatic endothelial cell gene expression changes were confirmed in ischemia-reperfusion injury and in cultured lymphatic endothelial cells, validating renal lymphatic endothelial cells single-cell RNA sequencing data...
February 7, 2024: Journal of the American Society of Nephrology: JASN
https://read.qxmd.com/read/38505621/fibroblasts-facilitate-lymphatic-vessel-formation-in-transplanted-heart
#35
JOURNAL ARTICLE
Hui Gong, Ting Wang, Xiaotong Sun, Yuesheng Zhang, Yichao Qiu, Wenlong Sun, Yue Zhang, Peng Teng, Yanhua Hu, Xiaosheng Hu, Liang Ma, Qingbo Xu, Haige Zhao
Rationale: Lymphangiogenesis plays a critical role in the transplanted heart. The remodeling of lymphatics in the transplanted heart and the source of newly formed lymphatic vessels are still controversial, especially the mechanism of lymphangiogenesis remains limited. Methods: Heart transplantation was performed among BALB/c , C57BL/6J , Cag-Cre , Lyve1-CreERT2 ; Rosa26-tdTomato and Postn ( 2A-CreERT2 -wpre-pA ) 1 ; Rosa26-DTA mice. scRNA-seq, Elisa assay, Western blotting, Q-PCR and immunohistochemical staining were used to identify the cells and cell-cell communications of allograft heart...
2024: Theranostics
https://read.qxmd.com/read/38501698/analysis-of-cerna-network-and-identification-of-potential-treatment-target-and-biomarkers-of-endothelial-cell-injury-in-sepsis
#36
JOURNAL ARTICLE
Yulin Li, Qinghui Fu, Junjun Fang, Zhipeng Xu, Chunhu Zhang, Longwei Tan, Xin Liao, Yao Wu
Background: Sepsis is a complex clinical syndrome caused by a dysregulated host immune response to infection. This study aimed to identify a competing endogenous RNA (ceRNA) network that can greatly contribute to understanding the pathophysiological process of sepsis and determining sepsis biomarkers. Methods: The GSE100159, GSE65682, GSE167363, and GSE94717 datasets were obtained from the Gene Expression Omnibus (GEO) database. Weighted gene coexpression network analysis was performed to find modules possibly involved in sepsis...
March 19, 2024: Genetic Testing and Molecular Biomarkers
https://read.qxmd.com/read/38496850/integrated-single-cell-and-bulk-rna-sequencing-reveals-crem-is-involved-in-the-pathogenesis-of-ulcerative-colitis
#37
JOURNAL ARTICLE
Zongqi He, Qing Zhou, Jun Du, Yuyu Huang, Bensheng Wu, Zhizhong Xu, Chao Wang, Xudong Cheng
BACKGROUND: Ulcerative colitis (UC) is an inflammatory bowel disease characterized by persistent colonic inflammation. Here, we performed a systematic analysis to gain better insights into UC pathogenesis. METHODS: We analyzed two UC-related datasets extracted from the gene expression omnibus database using several bioinformatics tools. The primary cell types and key subgroups of primary cells associated with UC and differentially expressed genes (DEGs) between UC and control samples were identified...
March 30, 2024: Heliyon
https://read.qxmd.com/read/38496837/targeted-next-generation-sequencing-of-491-lung-cancers-in-clinical-practice-implications-for-future-detection-strategy-and-targeted-therapy
#38
JOURNAL ARTICLE
Xiao-Dan Liu, Yan Zhang, Hui-Ying He
Although lung cancer remains the most common cause of global cancer-related mortality, the identification of oncogenic driver alterations and the development of targeted drugs has dramatically altered the therapeutic landscape. In this retrospective study, we found that 97.7% samples carried at least one mutation in the 25 genes tested in our cohort. 53.6% samples were positive for EGFR mutations, followed by TP53 (41.1%), KRAS (11.8%), ERBB2 (4.3%). EGFR mutations were mainly found in female adenocarcinomas, while TP53 was mainly found in male non-adenocarcinomas...
March 30, 2024: Heliyon
https://read.qxmd.com/read/38492001/characteristics-of-a-type-voltage-gated-k-currents-expressed-on-sour-sensing-type-iii-taste-receptor-cells-in-mice
#39
JOURNAL ARTICLE
Takeru Moribayashi, Yoshiki Nakao, Yoshitaka Ohtubo
Sour taste is detected by type III taste receptor cells that generate membrane depolarization with action potentials in response to HCl applied to the apical membranes. The shape of action potentials in type III cells exhibits larger afterhyperpolarization due to activation of transient A-type voltage-gated K+ currents. Although action potentials play an important role in neurotransmitter release, the electrophysiological features of A-type K+ currents in taste buds remain unclear. Here, we examined the electrophysiological properties of A-type K+ currents in mouse fungiform taste bud cells using in-situ whole-cell patch clamping...
March 16, 2024: Cell and Tissue Research
https://read.qxmd.com/read/38489401/exploring-the-molecular-mechanisms-of-asthma-across-multiple-datasets
#40
JOURNAL ARTICLE
Lianshan Guo, Enhao Huang, Tongting Wang, Yun Ling, Zhengzhao Li
BACKGROUND: Asthma, a prevalent chronic respiratory disorder, remains enigmatic, notwithstanding considerable advancements in our comprehension. Continuous efforts are crucial for discovering novel molecular targets and gaining a comprehensive understanding of its pathogenesis. MATERIALS AND METHODS: In this study, we analyzed gene expression data from 212 individuals, including asthma patients and healthy controls, to identify 267 differentially expressed genes, among which C1orf64 and C7orf26 emerged as potential key genes in asthma pathogenesis...
December 2024: Annals of Medicine
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