keyword
https://read.qxmd.com/read/37392946/low-grade-fibromyxoid-sarcoma-of-the-breast-genetic-characterization-and-immunohistochemical-comparison-to-morphologic-mimics
#21
JOURNAL ARTICLE
Jeffrey M Cloutier, Anthony Moreland, Lin Wang, Christian A Kunder, Grace Allard, Aihui Wang, Gregor Krings, Gregory W Charville, Gregory R Bean
Spindle cell lesions of the breast elicit a specific, relatively limited differential diagnosis, and accurate classification often requires careful morphologic evaluation and immunohistochemical workup. Low-grade fibromyxoid sarcoma (LGFMS) is a rare malignant fibroblastic tumor with deceptively bland spindle cell morphology. Involvement of the breast is exceedingly rare. We examined the clinicopathologic and molecular characteristics of three cases of breast/axillary LGFMS. In addition, we interrogated the immunohistochemical expression of MUC4, a commonly used marker of LGFMS, in other breast spindle cell lesions...
September 2023: Human Pathology
https://read.qxmd.com/read/37331118/polygenic-risk-scores-and-risk-stratification-in-deep-vein-thrombosis
#22
JOURNAL ARTICLE
Valeria Lo Faro, Therese Johansson, Julia Höglund, Fatemeh Hadizadeh, Åsa Johansson
INTRODUCTION: Deep vein thrombosis (DVT) is a complex disease, where 60 % of risk is due to genetic factors, such as the Factor V Leiden (FVL) variant. DVT is either asymptomatic or manifests with unspecific symptoms and, if left untreated, DVT leads to severe complications. The impact is dramatic and currently, there is still a research gap in DVT prevention. We characterized the genetic contribution and stratified individuals based on genetic makeup to evaluate if it favorably impacts risk prediction...
June 10, 2023: Thrombosis Research
https://read.qxmd.com/read/37282819/from-phenomenon-to-essence-a-newly-involved-lncrna-kcnq1ot1-protective-mechanism-of-bone-marrow-mesenchymal-stromal-cells-in-liver-cirrhosis
#23
JOURNAL ARTICLE
Hanjing Zhangdi, Yanan Jiang, Yang Gao, Shuang Li, Ruiling Xu, Jing Shao, Jingyang Liu, Ying Hu, Xu Zhang, Xiaoyu Zhang, Lei Zhao, Jihan Qi, Xinyu Geng, Shizhu Jin
Bone marrow mesenchymal stromal cells (BMSCs) have a protective effect against liver cirrhosis. Long noncoding RNAs (lncRNAs) play crucial roles in the progression of liver cirrhosis. Therefore, it is aimed to clarify the lncRNA Kcnq1ot1 involved protective mechanism of BMSCs in liver cirrhosis. This study found that BMSCs treatment attenuates CCl4 -induced liver cirrhosis in mice. Additionally, the expression of lncRNA Kcnq1ot1 is upregulated in human and mouse liver cirrhosis tissues, in addition to TGF-β1-treated LX2 cells and JS1 cells...
June 6, 2023: Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
https://read.qxmd.com/read/37178686/p53-independent-tumor-suppression-by-cell-cycle-arrest-via-creb-atf-transcription-factor-oasis
#24
JOURNAL ARTICLE
Atsushi Saito, Yasunao Kamikawa, Taichi Ito, Koji Matsuhisa, Masayuki Kaneko, Takumi Okamoto, Tetsuro Yoshimaru, Yosuke Matsushita, Toyomasa Katagiri, Kazunori Imaizumi
CREB/ATF transcription factor OASIS/CREB3L1 is upregulated in long-term-cultured astrocytes undergoing cell-cycle arrest due to loss of DNA integrity by repeated replication. However, the roles of OASIS in the cell cycle remain unexplored. We find that OASIS arrests the cell cycle at G2 /M phase after DNA damage via direct induction of p21. Cell-cycle arrest by OASIS is dominant in astrocytes and osteoblasts, but not in fibroblasts, which are dependent on p53. In a brain injury model, Oasis-/- reactive astrocytes surrounding the lesion core show sustained growth and inhibition of cell-cycle arrest, resulting in prolonged gliosis...
May 5, 2023: Cell Reports
https://read.qxmd.com/read/37101388/amphiregulin-blockade-decreases-the-levodopa-induced-dyskinesia-in-a-6-hydroxydopamine-parkinson-s-disease-mouse-model
#25
JOURNAL ARTICLE
Piniel Alphayo Kambey, Wen Ya Liu, Jiao Wu, Chuanxi Tang, Wokuheleza Buberwa, Adonira Saro, Alphonce M K Nyalali, Dianshuai Gao
BACKGROUND: Levodopa (L-DOPA) is considered the most reliable drug for treating Parkinson's disease (PD) clinical symptoms. Regrettably, long-term L-DOPA therapy results in the emergence of drug-induced abnormal involuntary movements (AIMs) in most PD patients. The mechanisms underlying motor fluctuations and dyskinesia induced by L-DOPA (LID) are still perplexing. METHODS: Here, we first performed the analysis on the microarray data set (GSE55096) from the gene expression omnibus (GEO) repository and identified the differentially expressed genes (DEGs) using linear models for microarray analysis (Limma) R packages from the Bioconductor project...
April 26, 2023: CNS Neuroscience & Therapeutics
https://read.qxmd.com/read/36967990/golph3-modulates-expression-and-alternative-splicing-of-transcription-factors-associated-with-endometrial-decidualization-in-human-endometrial-stromal-cells
#26
JOURNAL ARTICLE
Suqin Zhu, Dianliang Lin, Zhoujie Ye, Xiaojing Chen, Wenwen Jiang, Huiling Xu, Song Quan, Beihong Zheng
Endometrial decidualization is a decidual tissue formed by the proliferation and re-differentiation of endometrial stroma stimulated by decidualization inducing factors. It is very important for the proper maintenance of pregnancy. Previous studies speculated that Golgi phosphoprotein 3 (GOLPH3) may have a regulatory role in the process of endometrial decidualization, while the specific molecular mechanisms of GOLPH3 is unclear. In this part, GOLPH3 was silenced in human endometrial stromal cells (hESCs), and the transcriptome data (RNA-seq) by GOLPH3 knockdown (siGOLPH3) was obtained by high-throughput sequencing technology so as to analyze the potential targets of GOLPH3 at expression and alternative splicing levels in hESCs...
2023: PeerJ
https://read.qxmd.com/read/36909603/temperature-modulates-the-osmosensitivity-of-tilapia-prolactin-cells
#27
Tharindu Malintha Gardi Hewage, Daniel W Woo, Fritzie T Celino-Brady, Andre P Seale
In euryhaline fish, prolactin (Prl) plays an essential role in freshwater (FW) acclimation. In the euryhaline and eurythermal Mozambique tilapia, Oreochromis mossambicus , Prl cells are model osmoreceptors, recently described to be thermosensitive. To investigate the effects of temperature on osmoreception, we incubated Prl cells of tilapia acclimated to either FW or seawater (SW) in different temperature (20, 26 and 32째C) and osmolality (280, 330 and 420 mOsm/kg) combinations for 6 h. Release of both Prl isoforms, Prl 188 and Prl 177 , increased in hyposmotic media and were further augmented with a rise in temperature...
February 28, 2023: Research Square
https://read.qxmd.com/read/36793138/regulon-active-landscape-reveals-cell-development-and-functional-state-changes-of-human-primary-osteoblasts-in-vivo
#28
JOURNAL ARTICLE
Shengran Wang, Yun Gong, Zun Wang, Xianghe Meng, Zhe Luo, Christopher J Papasian, Jonathan Greenbaum, Yisu Li, Qilan Liang, Yiping Chen, Xiaohua Li, Qiu Xiang, Hiuxi Zhang, Ying Liu, Liang Cheng, Yihe Hu, Lijun Tan, Hui Shen, Hongmei Xiao, Hongwen Deng
BACKGROUND: While transcription factor (TF) regulation is known to play an important role in osteoblast development, differentiation, and bone metabolism, the molecular features of TFs in human osteoblasts at the single-cell resolution level have not yet been characterized. Here, we identified modules (regulons) of co-regulated genes by applying single-cell regulatory network inference and clustering to the single-cell RNA sequencing profiles of human osteoblasts. We also performed cell-specific network (CSN) analysis, reconstructed regulon activity-based osteoblast development trajectories, and validated the functions of important regulons both in vivo and in vitro...
February 15, 2023: Human Genomics
https://read.qxmd.com/read/36773648/osmoadaptive-glp-1r-signalling-in-hypothalamic-neurones-inhibits-antidiuretic-hormone-synthesis-and-release
#29
JOURNAL ARTICLE
Michael P Greenwood, Mingkwan Greenwood, Soledad Bárez López, Joe W Hawkins, Katherine Short, Danijela Tatovic, David Murphy
OBJECTIVES: The excessive release of the antidiuretic hormone vasopressin is implicated in many diseases including cardiovascular disease, diabetes, obesity, and metabolic syndrome. Once thought to be elevated as a consequence of diseases, data now supports a more causative role. We have previously identified CREB3L1 as a transcription factor that co-ordinates vasopressin synthesis and release in the hypothalamus. The objective here was to identify mechanisms orchestrated by CREB3L1 that co-ordinate vasopressin release...
February 9, 2023: Molecular Metabolism
https://read.qxmd.com/read/36748108/sclerosing-epithelioid-fibrosarcoma-of-the-liver-in-a-pediatric-patient
#30
JOURNAL ARTICLE
Amy Armstrong, Fouad Boulos, Sakil Kulkarni, Janis Stoll, Maria Bernadette Majella Doyle, Adeel Khan, Mai He
Sclerosing epithelioid fibrosarcoma (SEF) is a rare but aggressive sarcoma. We report the first case of hepatic SEF in pediatric patient, which is also the second case in literature. A 17-year-old previously healthy female presented with a liver mass measuring 13.7 cm in greatest dimension and mild elevation of liver enzymes and cancer antigen 19-9. Needle biopsy revealed multiple cores of liver parenchyma mostly replaced by densely hyalinized fibrotic tissue and areas of small-to-medium sized epithelioid cells with eosinophilic and clear cytoplasm...
February 6, 2023: Pediatric and Developmental Pathology
https://read.qxmd.com/read/36535574/osmosensitive-transcription-factors-in-the-prolactin-cell-of-a-euryhaline-teleost
#31
JOURNAL ARTICLE
G H T Malintha, Fritzie T Celino-Brady, Zoia R Stoytcheva, Andre P Seale
In euryhaline fish, prolactin (Prl) plays a key role in freshwater acclimation. Prl release in the rostral pars distalis (RPD) of the pituitary is directly stimulated by a fall in extracellular osmolality. Recently, we identified several putative transcription factor modules (TFM) predicted to bind to the promoter regions of the two prl isoforms in Mozambique tilapia, Oreochromis mossambicus. We characterized the effects of extracellular osmolality on the activation of these TFMs from RPDs, in vivo and in vitro...
December 16, 2022: Comparative Biochemistry and Physiology. Part A, Molecular & Integrative Physiology
https://read.qxmd.com/read/36437749/low-grade-fibromyxoid-sarcoma-of-the-orbit
#32
JOURNAL ARTICLE
Angela J Oh, Pallavi Singh, Nathan Pirakitikulr, Kelsey Roelofs, Ben J Glasgow, Daniel B Rootman
A 70-year-old male presented with diplopia and painless proptosis of the left eye for 5 months. Examination showed 6 mm of axial proptosis and restriction of supraduction, abduction and adduction, and mild limitation of infraduction of the left eye. Magnetic resonance imaging demonstrated a large, moderately well-circumscribed intraconal mass in the left lateral orbit, and excisional biopsy was performed. Histopathologic features of mixed fibrous and myxoid areas in a whorl-like pattern and immunohistochemical staining for MUC4 confirmed the diagnosis of low-grade fibromyxoid sarcoma (LGFMS)...
November 28, 2022: Orbit
https://read.qxmd.com/read/36435939/single-cell-multiomics-reveals-the-complexity-of-tgf%C3%AE-signalling-to-chromatin-in-ipsc-derived-kidney-organoids
#33
JOURNAL ARTICLE
Jessica L Davis, Ciaran Kennedy, Shane Clerkin, Niall J Treacy, Thomas Dodd, Catherine Moss, Alison Murphy, Derek P Brazil, Gerard Cagney, Dermot F Brougham, Rabi Murad, Darren Finlay, Kristiina Vuori, John Crean
TGFβ1 plays a regulatory role in the determination of renal cell fate and the progression of renal fibrosis. Here we show an association between SMAD3 and the histone methyltransferase, EZH2, during cell differentiation; ChIP-seq revealed that SMAD3 and EZH2 co-occupy the genome in iPSCs and in iPSC-derived nephron progenitors. Through integration of single cell gene expression and epigenome profiling, we identified de novo ACTA2+ve /POSTN+ve myofibroblasts in kidney organoids treated with TGFβ1, characterised by increased SMAD3-dependent cis chromatin accessibility and gene expression associated with fibroblast activation...
November 27, 2022: Communications Biology
https://read.qxmd.com/read/36405948/metastatic-sclerosing-epithelioid-fibrosarcoma-in-an-adult-male-from-a-tertiary-care-centre-in-india-a-case-report
#34
Akhil Santhosh, Jay Mehta, Adarsh Barwad, Shamim A Shamim, Sameer Rastogi
BACKGROUND: Sclerosing epithelioid fibrosarcoma (SEF) is an extremely rare subtype of soft tissue sarcoma and the data from India is sparse. It is an unusual variant of fibrosarcoma that commonly arises in the soft tissues of the limb, head and neck, trunk and occasionally in the visceral organs and bones. This entity is commonly reported in the middle age group, men and women alike. Pathological clinchers include MUC 4 (Mucin 4, cell surface associated) positivity by immunohistochemistry, FUS-CREB3L1 fusion and EWSR1 rearrangement...
2022: Ecancermedicalscience
https://read.qxmd.com/read/36313580/creb3l1-and-creb3l2-control-golgi-remodelling-during-decidualization-of-endometrial-stromal-cells
#35
JOURNAL ARTICLE
Daniele Pittari, Marco Dalla Torre, Elena Borini, Barbara Hummel, Ritwick Sawarkar, Claudia Semino, Eelco van Anken, Paola Panina-Bordignon, Roberto Sitia, Tiziana Anelli
Upon progesterone stimulation, Endometrial Stromal Cells (EnSCs) undergo a differentiation program into secretory cells (decidualization) to release in abundance factors crucial for embryo implantation. We previously demonstrated that decidualization requires massive reshaping of the secretory pathway and, in particular, of the Golgi complex. To decipher the underlying mechanisms, we performed a time-course transcriptomic analysis of in vitro decidualizing EnSC. Pathway analysis shows that Gene Ontology terms associated with vesicular trafficking and early secretory pathway compartments are the most represented among those enriched for upregulated genes...
2022: Frontiers in Cell and Developmental Biology
https://read.qxmd.com/read/36192735/creb3l1-promotes-tumor-growth-and-metastasis-of-anaplastic-thyroid-carcinoma-by-remodeling-the-tumor-microenvironment
#36
JOURNAL ARTICLE
Zongfu Pan, Tong Xu, Lisha Bao, Xiaoping Hu, Tiefeng Jin, Jinming Chen, Jianqiang Chen, Yangyang Qian, Xixuan Lu, Lu Li, Guowan Zheng, Yiwen Zhang, Xiaozhou Zou, Feifeng Song, Chuanming Zheng, Liehao Jiang, Jiafeng Wang, Zhuo Tan, Ping Huang, Minghua Ge
Anaplastic thyroid carcinoma (ATC) is an extremely malignant type of endocrine cancer frequently accompanied by extrathyroidal extension or metastasis through mechanisms that remain elusive. We screened for the CREB3 transcription-factor family in a large cohort, consisting of four microarray datasets. This revealed that CREB3L1 was specifically up regulated in ATC tissues and negatively associated with overall survival of patients with thyroid cancer. Consistently, high expression of CREB3L1 was negatively correlated with progression-free survival in an independent cohort...
October 3, 2022: Molecular Cancer
https://read.qxmd.com/read/36171879/pan-cancer-analysis-of-creb3l1-as-biomarker-in-the-prediction-of-prognosis-and-immunotherapeutic-efficacy
#37
JOURNAL ARTICLE
Zhengjun Lin, Yanlin Wu, XunGang Xiao, Xianghong Zhang, Jia Wan, Tao Zheng, Hongxuan Chen, Tang Liu, Xianzhe Tang
Background: CAMP response element binding protein 3-like 1 (CREB3L1) has been indicated as a critical biomarker and can modulate multifaced behaviors of tumor cells in diverse cancers. However, a systematic assessment of CREB3L1 in pan-cancer is of absence, and the predictive value of CREB3L1 in cancer prognosis, the tumor immune microenvironment and the efficacy of immunotherapy remains unexplored. Methods: CREB3L1 expression in 33 different cancer types was investigated using RNAseq data from The Cancer Genome Atlas (TCGA) database...
2022: Frontiers in Genetics
https://read.qxmd.com/read/36123435/homoharringtonine-demonstrates-a-cytotoxic-effect-against-triple-negative-breast-cancer-cell-lines-and-acts-synergistically-with-paclitaxel
#38
JOURNAL ARTICLE
Riley Plett, Paul Mellor, Stephanie Kendall, S Austin Hammond, Aren Boulet, Kristine Plaza, Frederick S Vizeacoumar, Franco J Vizeacoumar, Deborah H Anderson
The lack of targeted therapies for triple-negative breast cancer (TNBC) contributes to their high mortality rates and high risk of relapse compared to other subtypes of breast cancer. Most TNBCs (75%) have downregulated the expression of CREB3L1 (cAMP-responsive element binding protein 3 like 1), a transcription factor and metastasis suppressor that represses genes that promote cancer progression and metastasis. In this report, we screened an FDA-approved drug library and identified four drugs that were highly cytotoxic towards HCC1806 CREB3L1-deficient TNBC cells...
September 19, 2022: Scientific Reports
https://read.qxmd.com/read/36071020/-paratesticular-low-grade-fibromyxoid-sarcoma-a-case-report
#39
JOURNAL ARTICLE
Fumiya Sugino, Takashi Ishida, Masayoshi Tamaki, Hisao Komeda, Naoki Watanabe, Takuji Tanaka
A 36-year-old man presented with painless swelling in the right side scrotum. Ultrasonography showed a hypoechoic tumor with mosaic pattern. Plain computed tomograghy (CT) revealed a 67 mm scrotal cystic lesion with low density area. We suspected an intrascrotal tumor and performed right side radical orchiectomy. The removed sample was yellow clear and elastic hard. A 7 cm multilocular cystic tumor was present on the head side of the normal testis. The cut-surface and the contents of the mass revealed a jelly-like viscous liquid...
August 2022: Hinyokika Kiyo. Acta Urologica Japonica
https://read.qxmd.com/read/35978537/osteogenesis-imperfecta-diagnosed-in-an-active-duty-female-due-to-creb3l1-heterozygosity
#40
JOURNAL ARTICLE
David P DeMasters, Andrew O Paulus, Joshua N Scott
INTRODUCTION: Osteogenesis imperfecta (OI) is a heritable, collagen-related disorder with varying degrees of disease severity and systemic involvement. The hallmark of OI is bone matrix fragility, but diverse effects related to structural integrity and impaired development of connective tissue can account for hearing loss, blue sclera, dentinogenesis imperfecta, frequent fractures, joint hypermobility, and cardiac valve or vessel fragility in some cases. There is emerging recognition of unique genetic mutations leading to OI including CREB3L1, which codes for an important transcription factor for differentiation of osteoblasts...
August 18, 2022: Military Medicine
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