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CREB3L1

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https://www.readbyqxmd.com/read/29531016/creb3l1-and-ptn-expressions-correlate-with-prognosis-of-brain-glioma-patients
#1
Liqiang Liu, Lifei Feng, Chengrui Nan, Zongmao Zhao
This study was conducted to investigate the clinical significance of cAMP responsive element binding protein 3 like 1 (CREB3L1) and pleiotrophin (PTN) expression in prognosis of patients with brain gliomas. Human brain tissue samples were collected from normal glial tissues (control), low- and high-grade glioma tissues. CREB3L1 and PTN expression levels in cells were assessed by immunohistochemistry, and population distribution of the CREB3L1- and PTN-presenting patients was examined. The CREB3L1 and PTN mRNA expressions in three types of brain cells were determined by RT-PCR...
March 12, 2018: Bioscience Reports
https://www.readbyqxmd.com/read/29426275/primary-renal-hybrid-low-grade-fibromyxoid-sarcoma-sclerosing-epithelioid-fibrosarcoma-an-unusual-pediatric-case-with-ewsr1-creb3l1-fusion
#2
Yingting Mok, Yin Huei Pang, Jain Sudhanshi Sanjeev, Chik Hong Kuick, Kenneth Tou-En Chang
Low-grade fibromyxoid sarcoma (LGFMS) and sclerosing epithelioid fibrosarcoma (SEF) are rare tumors with distinct sets of morphological features, both characterized by MUC4 immunoreactivity. Tumors exhibiting features of both entities are considered hybrid LGFMS-SEF lesions. While the majority of LGFMS cases are characterized by FUS-CREB3L2 gene fusions, most cases of pure SEF show EWSR1 gene rearrangements. In the largest study of hybrid LGFMS-SEF tumors to date, all cases exhibited FUS rearrangements, a similar genetic profile to LGFMS...
January 1, 2018: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29314300/low-grade-fibromyxoid-sarcoma-arising-within-the-median-nerve
#3
Amy A Swanson, Caterina Giannini, Andrew L Folpe, Daniel L Van Dyke, Kimberly K Amrami, William A Michalak, Rachael A Vaubel
We report a case of low-grade fibromyxoid sarcoma arising within the median nerve. A 31-year-old woman presented with symptoms of carpal tunnel syndrome and an enlarging mass in her right palm over 1 year. MRI demonstrated a mass associated with the right median nerve with solid and cystic components. At surgery, the mass was located within the epineurium, could be bluntly dissected from the nerve fascicles, and was suspected to be a schwannoma. A 3.4 cm, tan-pink, glistening, smooth, homogenous mass was submitted to pathology...
January 3, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29274042/sclerosing-epithelioid-fibrosarcoma-of-the-jaw-late-recurrence-from-a-low-grade-fibromyxoid-sarcoma
#4
Catherine Laliberte, Iona T Leong, Howard Holmes, Eric A Monteiro, Brian O'Sullivan, Brendan C Dickson
Sclerosing epithelioid fibrosarcoma (SEF) is an uncommon variant of fibrosarcoma that is characterized by a distinct morphology. It most frequently presents in the deep soft tissues of the lower extremities, often in intimate association with fascia and periosteum, although reports of the head and neck involvement have been reported. A minority of cases show morphological, immunohistochemical and molecular overlap with low grade fibromyxoid sarcoma (LG-FMS). Herein, we describe a case of a bland spindle cell neoplasm presenting in the jaw that was initially incompletely excised...
December 22, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/29172820/a-sclerosing-perineurioma-with-collagen-rosette-formation-benign-mimic-of-low-grade-fibromyxoid-sarcoma
#5
David Creytens, Liesbeth Ferdinande, Jo Van Dorpe
We report the case of a sclerosing perineurioma with conspicious collagen rosette formation in a 20-year-old male presenting with a firm, painless nodule on the palmar side of his right ring finger. The main differential diagnosis is a low-grade fibromyxoid sarcoma. The distinction between these entities is important because low-grade fibromyxoid sarcoma has a metastatic potential, while, as a rule, perineuriomas are benign. The presence of collagen rosettes in this current case makes this distinction even more difficult given that approximately 30% of low-grade fibromyxoid sarcoma cases show the focal presence of collagen rosettes...
April 2018: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29093023/creb3l1-mediated-functional-and-structural-adaptation-of-the-secretory-pathway-in-hormone-stimulated-thyroid-cells
#6
Iris A García, Vanina Torres Demichelis, Diego L Viale, Pablo Di Giusto, Yulia Ezhova, Roman S Polishchuk, Luciana Sampieri, Hernán Martinez, Elizabeth Sztul, Cecilia Alvarez
Many secretory cells increase the synthesis and secretion of cargo proteins in response to specific stimuli. How cells couple increased cargo load with a coordinate rise in secretory capacity to ensure efficient transport is not well understood. We used thyroid cells stimulated with thyrotropin (TSH) to demonstrate a coordinate increase in the production of thyroid-specific cargo proteins and ER-Golgi transport factors, and a parallel expansion of the Golgi complex. TSH also increased expression of the CREB3L1 transcription factor, which alone caused amplified transport factor levels and Golgi enlargement...
December 15, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/29057869/cancer-specific-perk-signaling-drives-invasion-and-metastasis-through-creb3l1
#7
Yu-Xiong Feng, Dexter X Jin, Ethan S Sokol, Ferenc Reinhardt, Daniel H Miller, Piyush B Gupta
PERK signaling is required for cancer invasion and there is interest in targeting this pathway for therapy. Unfortunately, chemical inhibitors of PERK's kinase activity cause on-target side effects that have precluded their further development. One strategy for resolving this difficulty would be to target downstream components of the pathway that specifically mediate PERK's pro-invasive and metastatic functions. Here we identify the transcription factor CREB3L1 as an essential mediator of PERK's pro-metastatic functions in breast cancer...
October 20, 2017: Nature Communications
https://www.readbyqxmd.com/read/28939748/in-depth-genetic-analysis-of-sclerosing-epithelioid-fibrosarcoma-reveals-recurrent-genomic-alterations-and-potential-treatment-targets
#8
Elsa Arbajian, Florian Puls, Cristina R Antonescu, Fernanda Amary, Raf Sciot, Maria Debiec-Rychter, Vaiyapuri P Sumathi, Marcus Järås, Linda Magnusson, Jenny Nilsson, Jakob Hofvander, Fredrik Mertens
Purpose: Sclerosing epithelioid fibrosarcoma (SEF) is a highly aggressive soft tissue sarcoma closely related to low-grade fibromyxoid sarcoma (LGFMS). Some tumors display morphologic characteristics of both SEF and LGFMS, hence they are known as hybrid SEF/LGFMS. Despite the overlap of gene fusion variants between these two tumor types, SEF is much more aggressive. The current study aimed to further characterize SEF and hybrid SEF/LGFMS genetically to better understand the role of the characteristic fusion genes and possible additional genetic alterations in tumorigenesis...
December 1, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28817112/monoallelic-and-biallelic-creb3l1-variant-causes-mild-and-severe-osteogenesis-imperfecta-respectively
#9
Rachel B Keller, Thao T Tran, Shawna M Pyott, Melanie G Pepin, Ravi Savarirayan, George McGillivray, Deborah A Nickerson, Michael J Bamshad, Peter H Byers
PurposeOsteogenesis imperfecta (OI) is a heritable skeletal dysplasia. Dominant pathogenic variants in COL1A1 and COL1A2 explain the majority of OI cases. At least 15 additional genes have been identified, but those still do not account for all OI phenotypes that present. We sought the genetic cause of mild and lethal OI phenotypes in an unsolved family.MethodsWe performed exome sequencing on seven members of the family, both affected and unaffected.ResultsWe identified a variant in cyclic AMP responsive element binding protein 3-like 1 (CREB3L1) in a consanguineous family...
April 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28750683/identification-of-novel-prostate-cancer-drivers-using-regnetdriver-a-framework-for-integration-of-genetic-and-epigenetic-alterations-with-tissue-specific-regulatory-network
#10
Priyanka Dhingra, Alexander Martinez-Fundichely, Adeline Berger, Franklin W Huang, Andre Neil Forbes, Eric Minwei Liu, Deli Liu, Andrea Sboner, Pablo Tamayo, David S Rickman, Mark A Rubin, Ekta Khurana
We report a novel computational method, RegNetDriver, to identify tumorigenic drivers using the combined effects of coding and non-coding single nucleotide variants, structural variants, and DNA methylation changes in the DNase I hypersensitivity based regulatory network. Integration of multi-omics data from 521 prostate tumor samples indicated a stronger regulatory impact of structural variants, as they affect more transcription factor hubs in the tissue-specific network. Moreover, crosstalk between transcription factor hub expression modulated by structural variants and methylation levels likely leads to the differential expression of target genes...
July 27, 2017: Genome Biology
https://www.readbyqxmd.com/read/28700938/golgi-outpost-synthesis-impaired-by-toxic-polyglutamine-proteins-contributes-to-dendritic-pathology-in-neurons
#11
Chang Geon Chung, Min Jee Kwon, Keun Hye Jeon, Do Young Hyeon, Myeong Hoon Han, Jeong Hyang Park, In Jun Cha, Jae Ho Cho, Kunhyung Kim, Sangchul Rho, Gyu Ree Kim, Hyobin Jeong, Jae Won Lee, TaeSoo Kim, Keetae Kim, Kwang Pyo Kim, Michael D Ehlers, Daehee Hwang, Sung Bae Lee
Dendrite aberration is a common feature of neurodegenerative diseases caused by protein toxicity, but the underlying mechanisms remain largely elusive. Here, we show that nuclear polyglutamine (polyQ) toxicity resulted in defective terminal dendrite elongation accompanied by a loss of Golgi outposts (GOPs) and a decreased supply of plasma membrane (PM) in Drosophila class IV dendritic arborization (da) (C4 da) neurons. mRNA sequencing revealed that genes downregulated by polyQ proteins included many secretory pathway-related genes, including COPII genes regulating GOP synthesis...
July 11, 2017: Cell Reports
https://www.readbyqxmd.com/read/28697683/metastatic-sclerosing-epithelioid-fibrosarcoma-in-bone-marrow
#12
Rana Asakra, Shane Zaidi, Khin Thway
Sclerosing epithelioid fibrosarcoma (SEF) is an aggressive neoplasm thought to be related to low-grade fibromyxoid sarcoma, which typically occurs in middle-aged adults in the deep soft tissues of the lower extremities and trunk. It comprises nests and cords of relatively uniform epithelioid polygonal cells with clear or eosinophilic cytoplasm in densely sclerotic stroma, and it is typically associated with EWSR1 gene rearrangements, and most commonly EWSR1-CREB3L1 fusions. As primary SEF can arise in bone, and bone is also a common metastatic site for SEF, its recognition at this site is important...
July 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28648941/low-grade-fibromyxoid-sarcoma-clinical-morphologic-and-genetic-features
#13
REVIEW
Mustafa Mohamed, Cyril Fisher, Khin Thway
Low-grade fibromyxoid sarcoma (LGFMS) is a bland spindle cell neoplasm that typically arises in the deep soft tissues of the proximal extremities or trunk of young adults. The majority of LGFMS are characterized by a recurrent (7;16)(q34;p11) translocation, resulting in the FUS-CREB3L2 fusion gene, which generates a chimeric protein with transcriptional regulatory activity. Small numbers harbor a FUS-CREB3L1 fusion resulting from t(11;16)(p11;p11), whilst rare cases harbor the EWSR1-CREB3L1 fusion. LGFMS is of low to moderate cellularity and consists of bland spindle cells with small, angulated nuclei and scant, wispy cytoplasm, arranged in a whorled growth pattern and typically showing abrupt transition from myxoid to fibrous areas...
June 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28569045/a-novel-ews-creb3l3-gene-fusion-in-a-mesenteric-sclerosing-epithelioid-fibrosarcoma
#14
Barbara Dewaele, Louis Libbrecht, Gabriel Levy, Benedicte Brichard, Vanessa Vanspauwen, Raf Sciot, Maria Debiec-Rychter
Sclerosing epithelioid fibrosarcoma (SEF) is a rare, malignant fibroblastic neoplasm, morphologically composed of cords, nests or sheets of monotonous epithelioid cells within a collagenous matrix. It has been recently characterized by recurrent pathogenic EWS-CREB3L1/2 or FUS-CREB3L2 fusions and common MUC4 protein expression by immunohistochemistry. Typically SEF occur in middle-aged adults and rarely have been reported within the abdominal cavity. Here we report an 18-year-old man with intraabdominal tumor and multiple disseminated liver metastases, presenting pure SEF histologic and immunophenotypic features...
September 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28186972/recurrent-fusion-transcripts-in-squamous-cell-carcinomas-of-the-vulva
#15
Marta Brunetti, Antonio Agostini, Ben Davidson, Claes G Tropé, Sverre Heim, Ioannis Panagopoulos, Francesca Micci
Juxtaposition of two different genes or gene parts due to chromosomal rearrangement is a well-known neoplasia-associated pathogenetic mechanism. The detection and characterization of such tumorigenic fusions is of great importance both research-wise, diagnostically because they may be specific for distinct tumor entities, and because they may serve as therapeutic targets for antioncogenic drugs that interact directly with the molecular changes responsible for neoplastic transformation.At present, more than 10,000 fusion transcripts have been reported in different types of neoplasia, with one tenth of them being identified in squamous cell carcinomas (SCC) of different locations...
March 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/27631873/sclerosing-epithelioid-fibrosarcoma
#16
James W Patterson, Georgi Tchernev, Anastasiya Atanasova Chokoeva, Mark R Wick
We report the case of a 55-year-old woman who developed a mass in the soft tissue of the anterior right proximal thigh. Microscopic findings in the biopsy specimen supported the diagnosis of sclerosing epithelioid fibrosarcoma (SEF). This entity is part of a spectrum of lesions that includes low-grade fibromyxoid sarcoma (LGFMS) and hyalinizing spindle cell tumor with giant rosettes (HSCTGR). It shares with LGFMS occasional overlapping histopathologic features and immunopositivity for MUC4. Although FUS and CREB3L2 gene rearrangements, characteristics of LGFMS, have been found in hybrid tumors (those with features of both SEF and LGFMS) and in examples of LGFMS with relapses showing SEF morphology, it appears that EWSR1 and CREB3L1 rearrangements predominate over FUS and CREB3L2 rearrangements among "pure" SEF tumors...
April 2017: Wiener Medizinische Wochenschrift
https://www.readbyqxmd.com/read/27499293/inverting-the-topology-of-a-transmembrane-protein-by-regulating-the-translocation-of-the-first-transmembrane-helix
#17
Qiuyue Chen, Bray Denard, Ching-En Lee, Sungwon Han, James S Ye, Jin Ye
TM4SF20 (transmembrane 4 L6 family 20) is a polytopic membrane protein that inhibits proteolytic processing of CREB3L1 (cAMP response element-binding protein 3-like 1), a membrane-bound transcription factor that blocks cell division and activates collagen synthesis. Here we report that ceramide stimulates CREB3L1 cleavage by inverting the orientation of TM4SF20 in membranes. In the absence of ceramide, the N terminus of the first transmembrane helix of TM4SF20 is inserted into the endoplasmic reticulum (ER) lumen...
August 18, 2016: Molecular Cell
https://www.readbyqxmd.com/read/27362941/dna-hypermethylation-of-creb3l1-and-bcl-2-associated-with-the-mitochondrial-mediated-apoptosis-via-pi3k-akt-pathway-in-human-beas-2b-cells-exposure-to-silica-nanoparticles
#18
Yang Zou, Qiuling Li, Lizhen Jiang, Caixia Guo, Yanbo Li, Yang Yu, Yang Li, Junchao Duan, Zhiwei Sun
The toxic effects of silica nanoparticles (SiNPs) are raising concerns due to its widely applications in biomedicine. However, current information about the epigenetic toxicity of SiNPs is insufficient. In this study, the epigenetic regulation of low-dose exposure to SiNPs was evaluated in human bronchial epithelial BEAS-2B cells over 30 passages. Cell viability was decreased in a dose- and passage-dependent manner. The apoptotic rate, the expression of caspase-9 and caspase-3, were significantly increased induced by SiNPs...
2016: PloS One
https://www.readbyqxmd.com/read/27187064/corpus-luteum-as-a-novel-target-of-weight-changes-that-contribute-to-impaired-female-reproductive-physiology-and-function
#19
Satu Kuokkanen, Alex J Polotsky, Justin Chosich, Andrew P Bradford, Anna Jasinska, Tzu Phang, Nanette Santoro, Susan E Appt
UNLABELLED: Obesity and malnutrition are associated with decreased fecundity in women. Impaired reproductive capacity in obese women is often attributed to anovulation. However, obese women with ovulatory cycles also have reduced fertility, but the etiology of their impaired reproduction is only partially understood. Accumulating evidence suggests that obesity directly impairs oocyte and embryo quality as well as endometrial receptivity. In obese women, urinary progesterone metabolite excretion is decreased, but in excess of what can be explained by suppressed gonadotropin secretion, suggesting that apart from its central effect obesity may directly affect progesterone (P4) production...
August 2016: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/27121396/up-regulation-of-fgfbp1-signaling-contributes-to-mir-146a-induced-angiogenesis-in-human-umbilical-vein-endothelial-cells
#20
Hua-Yu Zhu, Wen-Dong Bai, Jia-Qi Liu, Zhao Zheng, Hao Guan, Qin Zhou, Lin-Lin Su, Song-Tao Xie, Yun-Chuan Wang, Jun Li, Na Li, Yi-Jie Zhang, Hong-Tao Wang, Da-Hai Hu
Recent microRNA expression profiling studies have documented an up-regulation of miR-146a in several angiogenesis models. However, the underlying molecular mechanism of miR-146a in the angiogenic activity of endothelial cells has not been clearly elucidated. The present study was aimed to evaluate whether miR-146a promotes angiogenesis in HUVECs by increasing FGFBP1 expression via directly targeting CREB3L1. miR-146a was over expressed in HUVECs via lentiviral-miR-146a. Expression profiling analysis found miR-146a over expression resulted in up-regulation of angiogenesis and cytokine activity associated genes including FGF2...
April 28, 2016: Scientific Reports
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