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CREB3L1

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https://www.readbyqxmd.com/read/28817112/monoallelic-and-biallelic-creb3l1-variant-causes-mild-and-severe-osteogenesis-imperfecta-respectively
#1
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...
August 17, 2017: 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
#2
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
#3
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
#4
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
#5
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
#6
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...
May 31, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28186972/recurrent-fusion-transcripts-in-squamous-cell-carcinomas-of-the-vulva
#7
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
#8
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...
September 15, 2016: 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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/26917262/camp-response-element-binding-3-like-protein-1-creb3l1-is-required-for-decidualization-and-its-expression-is-decreased-in-women-with-endometriosis
#13
J I Ahn, J-Y Yoo, T H Kim, Y I Kim, S D Ferguson, A T Fazleabas, S L Young, B A Lessey, J Y Ahn, J M Lim, J-W Jeong
Endometriosis is a major cause of infertility and pelvic pain, affecting more than 10% of reproductive-aged women. Progesterone resistance has been observed in the endometrium of women with this disease, as evidenced by alterations in progesterone-responsive gene and protein expression. cAMPResponse Element-Binding 3-like protein 1 (Creb3l1) has previously been identified as a progesterone receptor (PR) target gene in mouse uterus via high density DNA microarray analysis. However, CREB3L1 function has not been studied in the context of endometriosis and uterine biology...
2016: Current Molecular Medicine
https://www.readbyqxmd.com/read/26810754/epigenetic-silencing-of-creb3l1-by-dna-methylation-is-associated-with-high-grade-metastatic-breast-cancers-with-poor-prognosis-and-is-prevalent-in-triple-negative-breast-cancers
#14
Alison K Ward, Paul Mellor, Shari E Smith, Stephanie Kendall, Natasha A Just, Frederick S Vizeacoumar, Sabuj Sarker, Zoe Phillips, Riaz Alvi, Anurag Saxena, Franco J Vizeacoumar, Svein A Carlsen, Deborah H Anderson
BACKGROUND: CREB3L1 (cAMP-responsive element-binding protein 3-like protein 1), a member of the unfolded protein response, has recently been identified as a metastasis suppressor in both breast and bladder cancer. METHODS: Quantitative real time PCR (qPCR) and immunoblotting were used to determine the impact of histone deacetylation and DNA methylation inhibitors on CREB3L1 expression in breast cancer cell lines. Breast cancer cell lines and tumor samples were analyzed similarly, and CREB3L1 gene methylation was determined using sodium bisulfite conversion and DNA sequencing...
January 25, 2016: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/26558437/oasis-modulates-hypoxia-pathway-activity-to-regulate-bone-angiogenesis
#15
Min Cui, Soshi Kanemoto, Xiang Cui, Masayuki Kaneko, Rie Asada, Koji Matsuhisa, Keiji Tanimoto, Yuki Yoshimoto, Chisa Shukunami, Kazunori Imaizumi
OASIS/CREB3L1, an endoplasmic reticulum (ER)-resident transcription factor, plays important roles in osteoblast differentiation. In this study, we identified new crosstalk between OASIS and the hypoxia signaling pathway, which regulates vascularization during bone development. RT-PCR and real-time PCR analyses revealed significant decreases in the expression levels of hypoxia-inducible factor-1α (HIF-1α) target genes such as vascular endothelial growth factor A (VEGFA) in OASIS-deficient (Oasis(-/-)) mouse embryonic fibroblasts...
November 12, 2015: Scientific Reports
https://www.readbyqxmd.com/read/26503226/transcription-factor-creb3l1-mediates-camp-and-glucocorticoid-regulation-of-arginine-vasopressin-gene-transcription-in-the-rat-hypothalamus
#16
Mingkwan Greenwood, Michael P Greenwood, Andre S Mecawi, Su Yi Loh, José Antunes Rodrigues, Julian F R Paton, David Murphy
BACKGROUND: Arginine vasopressin (AVP), a neuropeptide hormone that functions in the regulation of water homeostasis by controlling water re-absorption at kidneys, is synthesised in supraoptic nucleus and paraventricular nucleus of the hypothalamus. An increase in plasma osmolality stimulates secretion of AVP to blood circulation and induces AVP synthesis in these nuclei. Although studies on mechanism of AVP transcriptional regulation in hypothalamus proposed that cAMP and glucocorticoids positively and negatively regulate Avp expression, respectively, the molecular mechanisms have remained elusive...
October 26, 2015: Molecular Brain
https://www.readbyqxmd.com/read/26449317/primary-sclerosing-epithelioid-fibrosarcoma-of-kidney-with-variant-histomorphologic-features-report-of-2-cases-and-review-of-the-literature
#17
Dilek Ertoy Baydar, Kemal Kosemehmetoglu, Oguz Aydin, Julia A Bridge, Berrin Buyukeren, Fazil Tuncay Aki
The authors present two cases of primary sclerosing epithelioid fibrosarcoma (SEF) of the kidney. Both patients had a mass in the upper part of the left kidney without any primary extrarenal neoplastic lesions. Grossly, the tumors were solid masses both measuring 7.5 cm in the greatest diameter. Histologically, one of the lesions exhibited a predominantly lobular growth of round or oval small uniform epithelioid cells in variable cellularity. Circular zones of crowded tumor cells alternating with hypocellular collagenous tissue in a concentric fashion around entrapped native renal tubules were distinctive...
2015: Diagnostic Pathology
https://www.readbyqxmd.com/read/26110425/identification-of-creb3l1-as-a-biomarker-predicting-doxorubicin-treatment-outcome
#18
Bray Denard, Andrea Pavia-Jimenez, Weina Chen, Noelle S Williams, Harris Naina, Robert Collins, James Brugarolas, Jin Ye
BACKGROUND: Doxorubicin has been shown to inhibit proliferation of cancer cells through proteolytic activation of CREB3L1 (cAMP response element binding protein 3-like 1), a transcription factor synthesized as a membrane-bound precursor. Upon doxorubicin treatment, CREB3L1 is cleaved so that the N-terminal domain of the protein can reach the nucleus where it activates transcription of genes that inhibit cell proliferation. These results suggest that the level of CREB3L1 in cancer cells may determine their sensitivity to doxorubicin...
2015: PloS One
https://www.readbyqxmd.com/read/25990776/sclerosing-epithelioid-fibrosarcoma-of-the-kidney-clinicopathologic-and-molecular-study-of-a-rare-neoplasm-at-a-novel-location
#19
Carsten-Henning Ohlmann, Ines B Brecht, Kerstin Junker, Jill A van der Zee, Adriana Nistor, Rainer M Bohle, Michael Stöckle, Markus Metzler, Arndt Hartmann, Abbas Agaimy
Sclerosing epithelioid fibrosarcoma (SEF) is a rare fibrosarcoma variant with specific histomorphology and consistent translocation (EWSR1-CREB3L1/2). To date, 110 cases have been reported; only 15 originated within the abdomen. With only 2 cases reported parallel to our study and one case briefly mentioned in a previous series, primary renal SEF is exceptionally rare but might be underrecognized. We herein describe 2 cases affecting a 23-year-old woman and a 43-year-old man. Tumor size was 22 and 4.2 cm, respectively...
August 2015: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/25915053/transcription-factor-creb3l1-regulates-endoplasmic-reticulum-stress-response-genes-in-the-osmotically-challenged-rat-hypothalamus
#20
Mingkwan Greenwood, Michael Paul Greenwood, Julian F R Paton, David Murphy
Arginine vasopressin (AVP) is synthesised in magnocellular neurons (MCNs) of supraoptic nucleus (SON) and paraventricular nucleus (PVN) of the hypothalamus. In response to the hyperosmotic stressors of dehydration (complete fluid deprivation, DH) or salt loading (drinking 2% salt solution, SL), AVP synthesis increases in MCNs, which over-burdens the protein folding machinery in the endoplasmic reticulum (ER). ER stress and the unfolded protein response (UPR) are signaling pathways that improve ER function in response to the accumulation of misfold/unfold protein...
2015: PloS One
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