Yu Chen, Xudong Fan, Ruohuang Lu, Shan Zeng, Pingping Gan
Gallbladder cancer (GBC) is an aggressive cancer with poor prognosis. PARP inhibitors (PARPi) target PARP enzymes and have shown efficacy in patients with breast cancer gene (BRCA) mutations. Immunotherapy, especially immune checkpoint inhibitors (ICIs), has transformed cancer treatment. However, the combined impact of PARPi and ICIs in GBC remains unclear. We present a groundbreaking case of a GBC patient with BRCA2 mutations who received combination therapy with PARPi and ICIs after failing multiple lines of treatment...
June 12, 2024: Genes and Immunity
Zhiren Wang, Wenpan Li, Jianqin Lu
No abstract text is available yet for this article.
June 11, 2024: Genes and Immunity
Eric Engelbrecht, Oscar L Rodriguez, Kaitlyn Shields, Steven Schultze, David Tieri, Uddalok Jana, Gur Yaari, William D Lees, Melissa L Smith, Corey T Watson
Immunoglobulins (IGs), critical components of the human immune system, are composed of heavy and light protein chains encoded at three genomic loci. The IG Kappa (IGK) chain locus consists of two large, inverted segmental duplications. The complexity of the IG loci has hindered use of standard high-throughput methods for characterizing genetic variation within these regions. To overcome these limitations, we use long-read sequencing to create haplotype-resolved IGK assemblies in an ancestrally diverse cohort (n = 36), representing the first comprehensive description of IGK haplotype variation...
June 6, 2024: Genes and Immunity
Alan Herbert
Osteogenesis imperfecta type 10 (OI10) is caused by loss of function codon variants in the gene SERPINH1 that encodes heat shock protein 47 (HSP47), rather than in a gene specifying bone formation. The HSP47 variants disrupt the folding of both collagen and the endonuclease IRE1α (inositol-requiring enzyme 1α) that splices X-Box Binding Protein 1 (XBP1) mRNA. Besides impairing bone development, variants likely affect osteoclast differentiation. Three distinct biochemical scaffold play key roles in the differentiation and regulated cell death of osteoclasts...
May 29, 2024: Genes and Immunity
Linyu Zhu, Lvya Zhang, Junhua Qi, Zhiyu Ye, Gang Nie, Shaolong Leng
The functions of immunosenescence are closely related to skin cutaneous melanoma (SKCM). The aim of this study is to uncover the characteristics of immunosenescence index (ISI) to identify novel biomarkers and potential targets for treatment. Firstly, integrated bioinformatics analysis was carried out to identify risk prognostic genes, and their expression and prognostic value were evaluated. Then, we used the computational algorithm to estimate ISI. Finally, the distribution characteristics and clinical significance of ISI in SKCM by using multi-omics analysis...
May 29, 2024: Genes and Immunity
Tingting Zhong, Xiaoqing Cheng, Qianru Gu, Guoxiang Fu, Yihong Wang, Yujie Jiang, Jiaqi Xu, Zhinong Jiang
The pathogenesis of Crohn's disease (CD) involves abnormal immune cell infiltration and dysregulated immune response. Therefore, thorough research on immune cell abnormalities in CD is crucial for improved treatment of this disease. Single-cell RNA sequencing (scRNA-seq) and bulk RNA-seq data of CD were obtained from the Gene Expression Omnibus (GEO) database. Cell-type identification by estimating relative subsets of RNA transcripts (CIBERSORT), weighted gene co-expression network analysis (WGCNA), protein-protein interaction (PPI) networks evaluated the proportion of immune infiltrating cells, constructed co-expression network and identified key genes, respectively...
May 24, 2024: Genes and Immunity
Miriam Langguth, Eleftheria Maranou, Saara A Koskela, Oskar Elenius, Roosa E Kallionpää, Eva-Maria Birkman, Otto I Pulkkinen, Maria Sundvall, Marko Salmi, Carlos R Figueiredo
Immune checkpoint therapies (ICT) for advanced solid tumors mark a new milestone in cancer therapy. Yet their efficacy is often limited by poor immunogenicity, attributed to inadequate priming and generation of antitumor T cells by dendritic cells (DCs). Identifying biomarkers to enhance DC functions in such tumors is thus crucial. Tissue Inhibitor of Metalloproteinases-1 (TIMP-1), recognized for its influence on immune cells, has an underexplored relationship with DCs. Our research reveals a correlation between high TIMP1 levels in metastatic melanoma and increased CD8 + T cell infiltration and survival...
May 22, 2024: Genes and Immunity
Xueying Li, Lifen Zhao, Wenzhe Li, Peng Gao, Nianzhu Zhang
Glioblastoma (GBM) is the most common and aggressive malignant primary brain tumor in adults. Current treatment options for GBM include surgical resection, radiation, and chemotherapy, which predominantly slow cancer growth and reduce symptoms, resulting in a 5-year survival rate of no more than 10%. Chimeric antigen receptor (CAR) T-cell therapy is a new class of cellular immunotherapy that has made great progress in treating malignant tumors. Human epidermal growth factor receptor 2 (HER2) is overexpressed in GBM and may provide a potential therapeutic target for GBM treatment...
May 3, 2024: Genes and Immunity
Henrique G Colaço, Kelsey Voss
No abstract text is available yet for this article.
April 22, 2024: Genes and Immunity
Mahmoud Mohammad Yaseen, Nizar Mohammad Abuharfeil, Homa Darmani
Myeloid-derived suppressor cells (MDSCs) become expanded in different pathological conditions including human immunodeficiency virus (HIV) infection and this may worsen the disease status and accelerate disease progression. In HIV infection, MDSCs suppress anti-HIV immune responses and hamper immune reconstitution. Understanding the factors and mechanisms of MDSC expansion during HIV infection is central to understanding the pathophysiology of HIV infection. This may pave the way to developing new therapeutic targets or strategies...
April 11, 2024: Genes and Immunity
Lisabeth Pimenov, Azuah Lucrecia Gonzalez, Amanda C Doran, Sylvia Knapp
No abstract text is available yet for this article.
April 9, 2024: Genes and Immunity
Charalabos Antonatos, Georgios K Georgakilas, Evangelos Evangelou, Yiannis Vasilopoulos
Despite the abundance of epidemiological evidence for the high comorbid rate between psoriasis and obesity, systematic approaches to common inflammatory mechanisms have not been adequately explored. We performed a meta-analysis of publicly available RNA-sequencing datasets to unveil putative mechanisms that are postulated to exacerbate both diseases, utilizing both late-stage, disease-specific meta-analyses and consensus gene co-expression network (cWGCNA). Single-gene meta-analyses reported several common inflammatory mechanisms fostered by the perturbed expression profile of inflammatory cells...
April 5, 2024: Genes and Immunity
Melissa García-Vega, Hui Wan, Mónica Reséndiz-Sandoval, Diana Hinojosa-Trujillo, Olivia Valenzuela, Verónica Mata-Haro, Freddy Dehesa-Canseco, Mario Solís-Hernández, Harold Marcotte, Qiang Pan-Hammarström, Jesús Hernández
In this study, antibody response and a single-cell RNA-seq analysis were conducted on peripheral blood mononuclear cells from five different groups: naïve subjects vaccinated with AZD1222 (AZ) or Ad5-nCoV (Cso), individuals previously infected and later vaccinated (hybrid) with AZD1222 (AZ-hb) or Ad5-nCoV (Cso-hb), and those who were infected and had recovered from COVID-19 (Inf). The results showed that AZ induced more robust neutralizing antibody responses than Cso. The single-cell RNA data revealed a high frequency of memory B cells in the Cso and Cso-hb...
April 3, 2024: Genes and Immunity
A Guffroy, L Jacquel, Y Seeleuthner, N Paul, V Poindron, F Maurier, V Delannoy, A C Voegeli, P Zhang, B Nespola, A Molitor, M J Apithy, P Soulas-Sprauel, T Martin, R E Voll, S Bahram, V Gies, J L Casanova, A Cobat, B Boisson, R Carapito, A S Korganow
No abstract text is available yet for this article.
March 19, 2024: Genes and Immunity
Wu Yue, Zhou Huiling, Liu Yuxin, Wang Ling, Gao Feng, Liu Qicai
Repeated implantation failure (RIF) is one of the most prominent problems in the field of assisted reproduction. Neu5Gc on the surface of decidual macrophages (dMΦ) leads to different activation patterns of dMΦ, which affects embryo implantation and development. Cmah-/- (Neu5Gc-deficient) mice induced to produce anti-Neu5Gc antibodies in vivo were given a special diet rich in Neu5Gc and their fertility was monitored. The long-term diet rich in Neu5Gc induced the decrease of endometrial receptivity of female mice...
March 18, 2024: Genes and Immunity
Lionel Apetoh
No abstract text is available yet for this article.
March 13, 2024: Genes and Immunity
Xinhui Li, Shan Liu, Laibin Zou, Min Dai, Chaobei Zhu
Multiple transcript isoforms of genes can be formed by processing and modifying the 5' and 3' ends of RNA. Herein, the aim of this study is to uncover the characteristics of RNA processing modification (RPM) in hepatocellular carcinoma (HCC), and to identify novel biomarkers and potential targets for treatment. Firstly, integrated bioinformatics analysis was carried out to identify risk prognostic RPM regulators (RPMRs). Then, we used these RPMRs to identify subtypes of HCC and explore differences in immune microenvironment and cellular function improvement pathways between the sub-types...
March 12, 2024: Genes and Immunity
José María García-Aznar, Sara Alonso Alvarez, Teresa Bernal Del Castillo
The transcription factor BCL11B plays an essential role in the development of central nervous system and T cell differentiation by regulating the expression of numerous genes involved in several pathways. Monoallelic defects in the BCL11B gene leading to loss-of-function are associated with a wide spectrum of phenotypes, including neurological disorders with or without immunological features and susceptibility to hematological malignancies. From the genetic point of view, the landscape of BCL11B mutations reported so far does not fully explain the genotype-phenotype correlation...
March 12, 2024: Genes and Immunity
Ignacio Melero, Carmen Molina, Cristina Eguizabal, Maite Alvarez
No abstract text is available yet for this article.
March 9, 2024: Genes and Immunity
Teresa Neuwirth, Azuah L Gonzalez, Emilie Fisher-Gupta, Georg Stary
No abstract text is available yet for this article.
March 8, 2024: Genes and Immunity
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