keyword
https://read.qxmd.com/read/38536562/exome-sequencing-identified-mutations-in-the-wnt1-and-col1a2-genes-in-osteogenesis-imperfecta-cases
#1
JOURNAL ARTICLE
Poonam Mehta, Rahul Vishvkarma, Sushil Gupta, Naibedya Chattopadhyay, Singh Rajender
BACKGROUND: Osteogenesis imperfecta (OI) is a heritable connective tissue disorder characterized by bone deformities, fractures and reduced bone mass. OI can be inherited as a dominant, recessive, or X-linked disorder. The mutational spectrum has shown that autosomal dominant mutations in the type I collagen-encoding genes are responsible for OI in 85% of the cases. Apart from collagen genes, mutations in more than 20 other genes, such as CRTAP, CREB3L1, MBTPS2, P4HB, SEC24D, SPARC, FKBP10, LEPRE1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7, WNT1, BMP1, TMEM38B, and IFITM5 have been reported in OI...
March 27, 2024: Molecular Biology Reports
https://read.qxmd.com/read/38504568/significance-of-aneuploidy-in-predicting-prognosis-and-treatment-response-of-uveal-melanoma
#2
JOURNAL ARTICLE
Xiaoqian Zhang, Ling Jin, Chenchen Zhou, Jinghua Liu, Qin Jiang
AIMS: This study aimed to improve personalized treatment strategies and predict survival outcomes for patients with uveal melanoma (UM). BACKGROUND: Copy number aberrations (CNAs) have been considered as a main feature of metastatic UM. OBJECTIVE: This study was designed to explore the feasibility of using copy number variation (CNV) in UM classification, prognosis stratification and treatment response. METHODS: The CNV data in the TCGA-UVM cohort were used to classify the samples...
March 19, 2024: Current Medicinal Chemistry
https://read.qxmd.com/read/38482445/the-integration-of-bulk-and-single-cell-sequencing-data-revealed-the-function-of-fkbp10-in-the-gastric-cancer-microenvironment
#3
JOURNAL ARTICLE
Manling Xie, Liang Liang, Liuying Yu, Jiping Shi, Yu Lei, Jun Huang, Xiaoyong Cai
BACKGROUND: Due to the implementation of individualized treatment, the majority of gastric cancer patients have a favorable prognosis, but advanced gastric cancer with recurrence and distant metastasis still plagues some patients. As a member of the FK506-binding protein (FKBP65) family, there is growing evidence that FKBP10 plays a crucial role in tumorigenesis. However, the role of FKBP10 in the tumor microenvironment (TME) has been a prominent issue. METHODS: The FKBP10 knockdown efficiency in gastric cancer cells was determined by quantitative real-time polymerase chain reaction (qRT-PCR)...
February 29, 2024: Translational Cancer Research
https://read.qxmd.com/read/38346409/association-of-antenatal-evaluations-with-postmortem-and-genetic-findings-in-the-series-of-fetal-osteogenesis-imperfecta
#4
JOURNAL ARTICLE
Leyli Senturk, Cagri Gulec, Tugba Sarac Sivrikoz, Hulya Kayserili, Ibrahim Halil Kalelioglu, Sahin Avci, Recep Has, Paul Coucke, Tugba Kalayci, Bernd Wollnik, Birsen Karaman, Guven Toksoy, Sofie Symoens, Gokhan Yigit, Atil Yuksel, Seher Basaran, Beyhan Tuysuz, Umut Altunoglu, Zehra Oya Uyguner
INTRODUCTION: Counseling Osteogenesis Imperfecta (OI) pregnancies is challenging due to the wide range of onsets and clinical severities, from perinatal lethality to milder forms detected later in life. METHODS: Thirty-eight individuals from 36 families were diagnosed with OI through prenatal ultrasonography and/or postmortem clinical and radiographic findings. Genetic analysis was conducted on 26 genes associated with OI in these subjects that emerged over the past 20 years, while some genes were examined progressively, all 26 genes were examined in the group where no pathogenic variations were detected...
February 12, 2024: Fetal Diagnosis and Therapy
https://read.qxmd.com/read/38233415/fkbp10-promotes-clear-cell-renal-cell-carcinoma-progression-and-regulates-sensitivity-to-the-hif2%C3%AE-blockade-by-facilitating-ldha-phosphorylation
#5
JOURNAL ARTICLE
Ren Liu, Zhihao Zou, Lingwu Chen, Yuanfa Feng, Jianheng Ye, Yulin Deng, Xuejin Zhu, Yixun Zhang, Jundong Lin, Shanghua Cai, Zhenfeng Tang, Yingke Liang, Jianming Lu, Yangjia Zhuo, Zhaodong Han, Xiaohui Ling, Yuxiang Liang, Zongren Wang, Weide Zhong
Renal cell carcinoma (RCC) is one of the three major malignant tumors of the urinary system and originates from proximal tubular epithelial cells. Clear cell renal cell carcinoma (ccRCC) accounts for approximately 80% of RCC cases and is recognized as a metabolic disease driven by genetic mutations and epigenetic alterations. Through bioinformatic analysis, we found that FK506 binding protein 10 (FKBP10) may play an essential role in hypoxia and glycolysis pathways in ccRCC progression. Functionally, FKBP10 promotes the proliferation and metastasis of ccRCC in vivo and in vitro depending on its peptidyl-prolyl cis-trans isomerase (PPIase) domains...
January 17, 2024: Cell Death & Disease
https://read.qxmd.com/read/38102329/genetic-basis-of-osteogenesis-imperfecta-from-a-single-tertiary-centre-in-south-africa
#6
JOURNAL ARTICLE
Kimberly Christine Coetzer, Ekkehard Zöllner, Shahida Moosa
Osteogenesis imperfecta (OI) is a clinically heterogeneous disorder characterised by skeletal fragility and an increased fracture incidence. It occurs in approximately one in every 15-20,000 births and is known to vary considerably in its severity. This report aimed to use next-generation sequencing (NGS) technology to identify disease genes and causal variants in South African patients with clinical-radiological features of OI. A total of 50 affected individuals were recruited at Tygerberg Hospital's Medical Genetics clinic...
December 15, 2023: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/38070051/single-cell-analysis-extracted-cafs-related-genes-to-established-online-app-to-predict-clinical-outcome-and-radiotherapy-prognosis-of-prostate-cancer
#7
JOURNAL ARTICLE
Cong Lai, Zhikai Wu, Zhuohang Li, Xin Huang, Zhensheng Hu, Hao Yu, Zhihan Yuan, Juanyi Shi, Jintao Hu, Yelisudan Mulati, Cheng Liu, Kewei Xu
BACKGROUND: Cancer-associated fibroblasts (CAFs) play a significant role in regulating the clinical outcome and radiotherapy prognosis of prostate cancer (PCa). The aim of this study is to identify CAFs-related genes (CAFsRGs) using single-cell analysis and evaluate their potential for predicting the prognosis and radiotherapy prognosis in PCa. METHODS: We acquire transcriptome and single-cell RNA sequencing (scRNA-seq) results of PCa and normal adjacent tissues from The GEO and TCGA databases...
December 9, 2023: Clinical & Translational Oncology
https://read.qxmd.com/read/38014644/assessing-type-i-collagen-expression-and-quality-in-cellular-models-of-osteogenesis-imperfecta
#8
JOURNAL ARTICLE
Prajna Udupa, Akshaykumar Nanaji Shrikondawar, Akash Ranjan, Debasish Kumar Ghosh
Osteogenesis imperfecta (OI) is a group of genetic disorders of bone formation characterized by soft and shorter brittle bones in affected individuals. OI is generally considered a collagenopathy resulting from abnormal expression of type I collagen. As assay system to detect the cellular level and quality of type I collagen would help in rapid and correct detection of OI from the diagnostic perspectives. Here, we report an immunofluorescence assay for detection of type I collagen in fibroblast models of OI and represented them into two broad categories based on the expression level and aggregation characteristics of pro-α1(I)...
November 28, 2023: Clinical Genetics
https://read.qxmd.com/read/37993598/construction-of-a%C3%A2-prognostic-risk-model-for-stomach-adenocarcinoma-based-on-endoplasmic-reticulum-stress-genes
#9
JOURNAL ARTICLE
Xi Li, Yuehua Lei
OBJECTIVE: Stomach adenocarcinoma (STAD) is caused by malignant transformation of gastric glandular cells and is characterized by a high incidence rate and a poor prognosis. This study was designed to establish a prognostic risk model for STAD according to endoplasmic reticulum (ER) stress feature genes as cancer cells are susceptible to ER stress. METHODS: The TCGA-STAD dataset was downloaded to screen differentially expressed genes (DEGs). By intersecting DEGs with ER stress genes retrieved from GeneCards, ER stress-related DEGs in STAD were obtained...
November 22, 2023: Wiener Klinische Wochenschrift
https://read.qxmd.com/read/37969115/whole-exome-sequencing-revealed-novel-genetic-alterations-in-patients-with-tetralogy-of-fallot
#10
JOURNAL ARTICLE
Yu Pan, Manli Liu, Songsong Zhang, Huaxian Mei, Jing Wu
BACKGROUND: The most prevalent cyanotic congenital heart disease (CHD) phenotype is tetralogy of Fallot (TOF). Rare genetic variations have been identified as significant risk factors for CHD. Thus, this research sought to identify the pathogenic variations and molecular etiologies of TOF. METHODS: This study employed whole-exome sequencing (WES) and Sanger sequencing to identify pathogenic variations in DNA samples from patients with TOF. The pathogenicity of the variations was predicted using an in-silico approach...
October 30, 2023: Translational Pediatrics
https://read.qxmd.com/read/37829649/retracted-a-novel-biomarker-fkbp10-for-poor-prognosis-prediction-in-patients-with-clear-cell-renal-cell-carcinoma
#11
Evidence-Based Complementary And Alternative Medicine
[This retracts the article DOI: 10.1155/2022/5490644.].
2023: Evidence-based Complementary and Alternative Medicine: ECAM
https://read.qxmd.com/read/37679111/identification-and-validation-of-biomarkers-for-epithelial-mesenchymal-transition-related-cells-to-estimate-the-prognosis-and-immune-microenvironment-in-primary-gastric-cancer-by-the-integrated-analysis-of-single-cell-and-bulk-rna-sequencing-data
#12
JOURNAL ARTICLE
Kaiyu Shen, Shuaiyi Ke, Binyu Chen, Tiantian Zhang, Hongtai Wang, Jianhui Lv, Wencang Gao
BACKGROUND: The epithelial-mesenchymal transition (EMT) is associated with gastric cancer (GC) progression and immune microenvironment. To better understand the heterogeneity underlying EMT, we integrated single-cell RNA-sequencing (scRNA-seq) data and bulk sequencing data from GC patients to evaluate the prognostic utility of biomarkers for EMT-related cells (ERCs), namely, cancer-associated fibroblasts (CAFs) and epithelial cells (ECs). METHODS: scRNA-seq data from primary GC tumor samples were obtained from the Gene Expression Omnibus (GEO) database to identify ERC marker genes...
June 16, 2023: Mathematical Biosciences and Engineering: MBE
https://read.qxmd.com/read/37511172/subcellular-expression-patterns-of-fkbp-prolyl-isomerase-10-fkbp10-in-colorectal-cancer-and-its-clinical-significance
#13
JOURNAL ARTICLE
Yating Fu, Jiahui Chen, Xianhua Ma, Wenjun Chang, Xiongbao Zhang, Yu Liu, Hao Shen, Xuefei Hu, An-Jing Ren
FKBP10, a member of the FK506-binding protein (FKBP) family, has been implicated in cancer development, although its prognostic function remains controversial. In this study, we analyzed the expression of FKBP10 in tumor tissues using online databases (TCGA) as well as our CRC cohort, and investigated the relationship between its subcellular expression pattern and patient outcomes. Cox regression analysis was used to determine the associations between different subcellular expression patterns of FKBP10 and clinical features of patients...
July 13, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/37422836/mutation-in-fkbp10-gene-cause-bruck-syndrome-1-brks1-in-a-pakistani-family-of-pashtun-origin
#14
Usman Tauseef, Mohsina Ibrahim, Noshaba Noor, Misbah Hanif
Bruck syndrome or BRKS1 is an extremely rare condition characterized by the onset of fractures in infancy, joint contractures, short stature, severe limb deformity, and progressive scoliosis. Less than fifty cases of BRKS1 have been reported so far. Here, we report Bruck syndrome 1 in two siblings who belong to a consanguineous Pashtun family living in Karachi. Our first case is a seven years old boy who presented with recurrent fractures, lower limb deformity, and unable to walk. He had markedly reduced bone mineral density (BMD) and a normal bone profile...
2023: Journal of Ayub Medical College, Abbottabad: JAMC
https://read.qxmd.com/read/37406115/melanoma-intrinsic-nr2f6-activity-regulates-antitumor-immunity
#15
JOURNAL ARTICLE
Hyungsoo Kim, Yongmei Feng, Rabi Murad, Joanna Pozniak, Carl Pelz, Yeqing Chen, Bhavik Dalal, Rosalie Sears, Eduard Sergienko, Michael Jackson, Eytan Ruppin, Meenhard Herlyn, Curtis Harris, Jean-Christophe Marine, Victoria Klepsch, Gottfried Baier, Ze'ev A Ronai
Nuclear receptors (NRs) are implicated in the regulation of tumors and immune cells. We identify a tumor-intrinsic function of the orphan NR, NR2F6, regulating antitumor immunity. NR2F6 was selected from 48 candidate NRs based on an expression pattern in melanoma patient specimens (i.e., IFN-γ signature) associated with positive responses to immunotherapy and favorable patient outcomes. Correspondingly, genetic ablation of NR2F6 in a mouse melanoma model conferred a more effective response to PD-1 therapy...
July 7, 2023: Science Advances
https://read.qxmd.com/read/37308823/genetic-architecture-of-acute-hyperthermia-resistance-in-juvenile-rainbow-trout-oncorhynchus-mykiss-and-genetic-correlations-with-production-traits
#16
JOURNAL ARTICLE
Henri Lagarde, Delphine Lallias, Pierre Patrice, Audrey Dehaullon, Martin Prchal, Yoannah François, Jonathan D'Ambrosio, Emilien Segret, Ana Acin-Perez, Frederic Cachelou, Pierrick Haffray, Mathilde Dupont-Nivet, Florence Phocas
BACKGROUND: Selective breeding is a promising solution to reduce the vulnerability of fish farms to heat waves, which are predicted to increase in intensity and frequency. However, limited information about the genetic architecture of acute hyperthermia resistance in fish is available. Two batches of sibs from a rainbow trout commercial line were produced: the first (N = 1382) was phenotyped for acute hyperthermia resistance at nine months of age and the second (N = 1506) was phenotyped for main production traits (growth, body length, muscle fat content and carcass yield) at 20 months of age...
June 12, 2023: Genetics, Selection, Evolution: GSE
https://read.qxmd.com/read/37201304/identification-of-fkbp10-prognostic-value-in-lung-adenocarcinoma-patients-with-surgical-resection-of-brain-metastases-a-retrospective-single-institution-cohort-study
#17
JOURNAL ARTICLE
Zhi-Dan Liu, Song-Quan Wang, Sai Li, Jie He, Shao-Hua Wang, Hong-Qing Cai, Jing-Hai Wan
OBJECTIVE: To explore the expression levels and clinical value of FKBP10 in lung adenocarcinoma brain metastases. DESIGN: A retrospective single-institution cohort study. PATIENTS: The perioperative records of 71 patients with lung adenocarcinoma brain metastases who underwent surgical resection at the authors' institution between November 2012 and June 2019 were retrospectively analyzed. METHODS: The authors evaluated FKBP10 expression levels using immunohistochemistry in tissue arrays of these patients...
May 16, 2023: Clinics
https://read.qxmd.com/read/37124542/construction-of-cancer-associated-fibroblasts-related-risk-signature-based-on-single-cell-rna-seq-and-bulk-rna-seq-data-in-bladder-urothelial-carcinoma
#18
JOURNAL ARTICLE
Yunxun Liu, Jun Jian, Ye Zhang, Lei Wang, Xiuheng Liu, Zhiyuan Chen
BACKGROUND: The ability of cancer-associated fibroblasts (CAFs) to encourage angiogenesis, tumor cell spread, and increase treatment resistance makes them pro-tumorigenic. We aimed to investigate the CAF signature in Bladder urothelial carcinoma (BLCA) and, for clinical application, to build a CAF-based risk signature to decipher the immune landscape and screen for suitable treatment BLCA samples. METHODS: CAF-related genes were discovered by superimposing CAF marker genes discovered from single-cell RNA-seq (scRNA-seq) data taken from the GEO database with CAF module genes discovered by weighted gene co-expression network analysis (WGCNA) using bulk RNA-seq data from TCGA...
2023: Frontiers in Oncology
https://read.qxmd.com/read/36915111/constructing-a-novel-mitochondrial-related-gene-signature-for-evaluating-the-tumor-immune-microenvironment-and-predicting-survival-in-stomach-adenocarcinoma
#19
JOURNAL ARTICLE
Jingjia Chang, Hao Wu, Jin Wu, Ming Liu, Wentao Zhang, Yanfen Hu, Xintong Zhang, Jing Xu, Li Li, Pengfei Yu, Jianjun Zhu
BACKGROUND: The incidence and mortality of gastric cancer ranks fifth and fourth worldwide among all malignancies, respectively. Accumulating evidences have revealed the close relationship between mitochondrial dysfunction and the initiation and progression of stomach cancer. However, rare prognostic models for mitochondrial-related gene risk have been built up in stomach cancer. METHODS: In current study, the expression and prognostic value of mitochondrial-related genes in stomach adenocarcinoma (STAD) patients were systematically analyzed to establish a mitochondrial-related risk model based on available TCGA and GEO databases...
March 13, 2023: Journal of Translational Medicine
https://read.qxmd.com/read/36750863/identification-and-gene-expression-profiling-of-human-gonadotrophic-pituitary-adenoma-stem-cells
#20
JOURNAL ARTICLE
Linhao Yuan, Peiliang Li, Jiang Li, Jiayi Peng, Jianlong Zhouwen, Shunchang Ma, Guijun Jia, Wang Jia, Peng Kang
BACKGROUND: Gonadotrophic pituitary adenoma is a major subtype of pituitary adenoma in the sellar region, but it is rarely involved in the hypersecretion of hormones into blood; thus, it is commonly regarded as "non-functioning." Its tumorigenic mechanisms remain unknown. The aim of this study was to identify human gonadotrophic pituitary adenoma stem cells (hPASCs) and explore the underlying gene expression profiles. In addition, the potential candidate genes involved in the invasive properties of pituitary adenoma were examined...
February 7, 2023: Acta Neuropathologica Communications
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