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https://www.readbyqxmd.com/read/27907090/forkhead-box-c1-regulates-human-primary-keratinocyte-terminal-differentiation
#1
Lianghua Bin, Liehua Deng, Hengwen Yang, Leqing Zhu, Xiao Wang, Michael G Edwards, Brittany Richers, Donald Y M Leung
The epidermis serves as a critical protective barrier between the internal and external environment of the human body. Its remarkable barrier function is established through the keratinocyte (KC) terminal differentiation program. The transcription factors specifically regulating terminal differentiation remain largely unknown. Using a RNA-sequencing (RNA-seq) profiling approach, we found that forkhead box c 1 (FOXC1) was significantly up-regulated in human normal primary KC during the course of differentiation...
2016: PloS One
https://www.readbyqxmd.com/read/27895772/hotair-a-long-non-coding-rna-driver-of-malignancy-whose-expression-is-activated-by-foxc1-negatively-regulates-mirna-1-in-hepatocellular-carcinoma
#2
Dong-Na Su, Shi-Pin Wu, Hong-Tao Chen, Jin-Hua He
Evidence is rapidly accumulating that long non-coding RNAs (lncRNAs) are involved in human tumorigenesis and are dysregulated in multiple cancers, including hepatocellular carcinoma (HCC). lncRNAs can regulate essential pathways that contribute to tumor initiation and progression with tissue specificity, which suggests that lncRNAs may be valuable biomarkers and therapeutic targets. HOX transcript antisense intergenic RNA (HOTAIR) has previously been demonstrated to be an oncogene and a negative prognostic factor in a variety of cancers; however, the factors that contribute to the upregulation of HOTAIR and the interaction between HOTAIR and microRNAs (miRNAs or miRs) are largely unknown...
November 2016: Oncology Letters
https://www.readbyqxmd.com/read/27804176/comparison-of-bioinformatics-prediction-molecular-modeling-and-functional-analyses-of-foxc1-mutations-in-patients-with-axenfeld-rieger-syndrome
#3
Morteza Seifi, Tim Footz, Sherry A M Taylor, Michael A Walter
Mutations in the forkhead box C1 gene (FOXC1) cause Axenfeld-Rieger syndrome (ARS). Here, we investigated the effect of four ARS missense variants on FOXC1 structure and function, and examined the predictive value of four in silico programs for all 31 FOXC1 missense variants identified to date. Molecular modeling of the FOXC1 forkhead domain predicts that c.402G> A (p.C135Y) alters FOXC1's structure. In contrast, c.378A> G (p.H128R) and c.481A> G (p.M161V) are not predicted to change FOXC1's structure...
November 2, 2016: Human Mutation
https://www.readbyqxmd.com/read/27799147/silencing-of-microrna-138-5p-promotes-il-1%C3%AE-induced-cartilage-degradation-in-human-chondrocytes-by-targeting-foxc1-mir-138-promotes-cartilage-degradation
#4
Y Yuan, G Q Zhang, W Chai, M Ni, C Xu, J Y Chen
OBJECTIVES: Osteoarthritis (OA) is characterised by articular cartilage degradation. MicroRNAs (miRNAs) have been identified in the development of OA. The purpose of our study was to explore the functional role and underlying mechanism of miR-138-5p in interleukin-1 beta (IL-1β)-induced extracellular matrix (ECM) degradation of OA cartilage. MATERIALS AND METHODS: Human articular cartilage was obtained from patients with and without OA, and chondrocytes were isolated and stimulated by IL-1β...
October 2016: Bone & Joint Research
https://www.readbyqxmd.com/read/27796151/cell-cycle-m-phase-genes-are-highly-upregulated-in-anaplastic-thyroid-carcinoma
#5
Paul Weinberger, Sithara Raju Ponny, Hongyan Xu, Shan Bai, Robert C Smallridge, John A Copland, Ashok Sharma
<b>Background:</b> Anaplastic thyroid carcinoma (ATC) accounts for only 3% of thyroid cancers, yet strikingly it accounts for almost 40% of thyroid cancer deaths. Currently, no effective therapies exist. In an effort to identify ATC-specific therapeutic targets, we analyzed global gene expression data from multiple studies to identify ATC specific dysregulated genes. <b>Methods:</b> The NCBI Gene Expression Omnibus database was searched for high-throughput gene expression microarray studies from human ATC tissue along with normal thyroid and/or papillary thyroid cancer (PTC) tissue...
October 31, 2016: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/27771509/a-mouse-model-of-aniridia-reveals-the-in-vivo-downstream-targets-of-pax6-driving-iris-and-ciliary-body-development-in-the-eye
#6
Xia Wang, Xianghong Shan, Cheryl Y Gregory-Evans
The Pax6 transcription factor is essential for development of the brain, eye, olfactory and endocrine systems. Haploinsufficiency of PAX6 in humans and mice causes the congenital condition aniridia, with defects in each of these organs and systems. Identification of the PAX6 transcription networks driving normal development is therefore critical in understanding the pathophysiology observed with loss-of-function defects. Here we have focused on identification of the downstream targets for Pax6 in the developing iris and ciliary body, where we used laser capture microdissection in mouse eyes from E12...
October 20, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27756109/separate-development-of-the-maxilla-and-mandible-is-controlled-by-regional-signaling-of-the-maxillomandibular-junction-during-avian-development
#7
Hye-Jin Tak, Tae-Jin Park, Zhenngu Piao, Sang-Hwy Lee
BACKGROUND: Syngnathia is a congenital craniofacial disorder characterized by bony or soft tissue fusion of upper and lower jaws. Previous studies suggested some causative signals, such as Foxc1 or Bmp4, cause the disruption of maxillomandibular identity, but their location and the interactive signals involved remain unexplored. We wanted to examine the embryonic origin of syngnathia based on the assumption that it may be located at the separation between the maxillary and mandibular processes...
October 18, 2016: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/27708239/foxc1-identifies-basal-like-breast-cancer-in-a-hereditary-breast-cancer-cohort
#8
Jeff Johnson, Michael Choi, Farnaz Dadmanesh, Bingchen Han, Ying Qu, Yi Yu-Rice, Xiao Zhang, Sanjay Bagaria, Clive Taylor, Armando E Giuliano, Farin Amersi, Xiaojiang Cui
Breast cancers arising in the setting of the hereditary breast cancer genes BRCA1 and BRCA2 are most commonly classified as basal-like breast cancer (BLBC) or luminal breast cancer, respectively. BLBC is an aggressive subtype of breast cancer associated with liver and lung metastases and poorer prognosis than other subtypes and for which chemotherapy is the only systemic therapy. Multiple immunohistochemical markers are used to identify the basal-like subtype, including the absence of estrogen receptor alpha, progesterone receptor, and human epidermal growth factor receptor 2...
September 30, 2016: Oncotarget
https://www.readbyqxmd.com/read/27697311/axenfeld-rieger-syndrome-and-leukoencephalopathy-caused-by-a-mutation-in-foxc1
#9
Manish Kumar, Chelsea Chambers, Radhika Dhamija
No abstract text is available yet for this article.
September 9, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27692691/targeted-methylation-sequencing-reveals-dysregulated-wnt-signaling-in-parkinson-disease
#10
Lusi Zhang, Jie Deng, Qian Pan, Yan Zhan, Jian-Bing Fan, Kun Zhang, Zhuohua Zhang
Parkinson disease (PD) is a progressive neurodegenerative movement disorder. Both environmental and genetic factors play important roles in PD etiology. A number of environmental toxins cause parkinsonism in human and animal models. Genetic studies of rare early onset familial PD cases resulted in identification of disease-linked mutations in multiple genes. Nevertheless, the potential interaction between environment and genetics in PD pathogenesis remains largely unknown. We hypothesized that environmental factors induce abnormal epigenetic regulation that is involved in the pathogenesis of both familial and sporadic PD...
May 13, 2016: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/27685901/the-role-and-the-potential-regulatory-pathways-of-high-expression-of-forkhead-box-c1-in-promoting-tumor-growth-and-metastasis-of-basal-like-breast-cancer
#11
Hou Dong Zuo, Wei Wu Yao
PURPOSE: To investigate the role of high forkhead box C1 (FOXC1) expression in basal-like breast cancer (BLBC) in vitro and vivo and the underlying regulatory mechanism. METHODS: The lentivirus vector with green fluorescent protein (GFP) was used. MDA-MB-231 cells expressing consistently high levels of FOXC1 (FOXC1-MDA-MB-231) were established. The parental MDA-MB-231 cells served as controls. Western blot analysis was used to determine the FOXC1 expression. The invasion capability was tested using the Trans-well assay...
July 2016: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/27671872/cerebrovascular-defects-in-foxc1-mutants-correlate-with-aberrant-wnt-and-vegf-a-pathways-downstream-of-retinoic-acid-from-the-meninges
#12
Swati Mishra, Youngshik Choe, Samuel J Pleasure, Julie A Siegenthaler
Growth and maturation of the cerebrovasculature is a vital event in neocortical development however mechanisms that control cerebrovascular development remain poorly understood. Mutations in or deletions that include the FOXC1 gene are associated with congenital cerebrovascular anomalies and increased stroke risk in patients. Foxc1 mutant mice display severe cerebrovascular hemorrhage at late gestational ages. While these data demonstrate Foxc1 is required for cerebrovascular development, its broad expression in the brain vasculature combined with Foxc1 mutant's complex developmental defects have made it difficult to pinpoint its function(s)...
December 1, 2016: Developmental Biology
https://www.readbyqxmd.com/read/27648121/effects-of-targeted-silencing-of-foxc1-gene-on-proliferation-and-in-vitro-migration-of-human-non-small-cell-lung-carcinoma-cells
#13
Sumei Chen, Shunchang Jiao, Youchao Jia, Yang Li
BACKGROUND: The aim of this study was to evaluate the effects of targeted silencing of forkhead box C1 (FOXC1) gene with small interfering RNA (siRNA) on the proliferation and in vitro migration of human non-small-cell lung carcinoma (NSCLC) A549 and NCIH460 cells, and to explore the molecular mechanism. METHODS: These cells were divided into FOXC1 siRNA groups and negative control groups. RESULTS: Quantitative real-time reverse transcription polymerase chain reaction (qRT-PCR) showed that compared with normal cells and paracancerous tissues, FOXC1 mRNA expressions in NSCLC cells and tissues were significantly higher (P<0...
2016: American Journal of Translational Research
https://www.readbyqxmd.com/read/27592801/foxc1-ablated-mice-are-anhidrotic-and-recapitulate-features-of-human-miliaria-sweat-retention-disorder
#14
Chang-Yi Cui, Ryuga Ishii, Dean P Campbell, Marc Michel, Yulan Piao, Tsutomu Kume, David Schlessinger
Sweat glands are critical for thermoregulation. The single tubular structure of sweat glands has a lower secretory portion and an upper reabsorptive duct leading to the secretory pore in the skin. Genes that determine sweat gland structure and function are largely unidentified. Here we report that a Fox family transcription factor, Foxc1, is obligate for appreciable sweat duct activity in mice. When Foxc1 was specifically ablated in skin, sweat glands appeared mature, but the mice were severely hypohidrotic...
September 1, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27556922/an-integrative-genomics-approach-for-identifying-novel-functional-consequences-of-pbrm1-truncated-mutations-in-clear-cell-renal-cell-carcinoma-ccrcc
#15
Yuanyuan Wang, Xingyi Guo, Michael J Bray, Zhiyong Ding, Zhongming Zhao
BACKGROUND: Clear cell renal cell carcinoma (ccRCC) is the most common type of kidney cancer. Recent large-scale next-generation sequencing analyses reveal that PBRM1 is the second most frequently mutated gene harboring many truncated mutations and has a suspected tumor suppressor role in ccRCC. However, the biological consequences of PBRM1 somatic mutations (e.g., truncated mutations) that drive tumor progression in ccRCC remain unclear. METHODS: In this study, we proposed an integrative genomics approach to explore the functional consequences of PBRM1 truncated mutations in ccRCC by incorporating somatic mutations, mRNA expression, DNA methylation, and microRNA (miRNA) expression profiles from The Cancer Genome Atlas (TCGA)...
August 22, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27545642/the-relationship-between-nuclear-factor-nf-%C3%AE%C2%BAb-family-gene-expression-and-prognosis-in-triple-negative-breast-cancer-tnbc-patients-receiving-adjuvant-doxorubicin-treatment
#16
Ji-Yeon Kim, Hae Hyun Jung, Soomin Ahn, SooYoun Bae, Se Kyung Lee, Seok Won Kim, Jeong Eon Lee, Seok Jin Nam, Jin Seok Ahn, Young-Hyuck Im, Yeon Hee Park
We investigated gene expression profiles of the NF-κB pathway in patients with triple-negative breast cancer (TNBC) receiving adjuvant chemotherapy to determine the prognostic value of NF-κB pathway genes according to chemotherapeutic regimen. We used the nCounter expression assay to measure expression of 11 genes (NFKB1, NFKB2, RELA, RELB, REL, TP53, FOXC1, TBP, SP1, STAT3 and IRF1 genes) belonging to the NF-κB pathway using mRNA extracted from paraffin-embedded tumor tissues from 203 patients diagnosed with TNBC...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27533251/foxc1-promotes-melanoma-by-activating-mst1r-pi3k-akt
#17
Jinhua Wang, Li Li, Shiwei Liu, Ying Zhao, Lin Wang, Guanhua Du
FOXC1 is a member of Forkhead box family transcription factors. We showed that FOXC1 level was increased in melanoma cells and tissues and correlated with hypomethylation of the FOXC1 gene. Overexpression of FOXC1 promoted proliferation, migration, invasion, colony formation and growth in 3D Matrigel of melanoma cells. FOXC1 increased MST1R and activated the PI3K/AKT pathway. Also, FOXC1 expression was associated with disease progression and poor prognosis of melanoma. We suggest that FOXC1 is a potential prognostic biomarker for treating melanoma and predicting outcome of patients...
August 11, 2016: Oncotarget
https://www.readbyqxmd.com/read/27501774/genome-wide-transcriptome-and-binding-sites-analyses-identify-early-fox-expressions-for-enhancing-cardiomyogenesis-efficiency-of-hesc-cultures
#18
Hock Chuan Yeo, Sherwin Ting, Romulo Martin Brena, Geoffrey Koh, Allen Chen, Siew Qi Toh, Yu Ming Lim, Steve Kah Weng Oh, Dong-Yup Lee
The differentiation efficiency of human embryonic stem cells (hESCs) into heart muscle cells (cardiomyocytes) is highly sensitive to culture conditions. To elucidate the regulatory mechanisms involved, we investigated hESCs grown on three distinct culture platforms: feeder-free Matrigel, mouse embryonic fibroblast feeders, and Matrigel replated on feeders. At the outset, we profiled and quantified their differentiation efficiency, transcriptome, transcription factor binding sites and DNA-methylation. Subsequent genome-wide analyses allowed us to reconstruct the relevant interactome, thereby forming the regulatory basis for implicating the contrasting differentiation efficiency of the culture conditions...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27485059/systematic-review-of-peri-operative-prognostic-biomarkers-in-pancreatic-ductal-adenocarcinoma
#19
REVIEW
Wilson Petrushnko, Justin S Gundara, Philip R De Reuver, Greg O'Grady, Jaswinder S Samra, Anubhav Mittal
BACKGROUND: Pancreatic ductal adenocarcinoma (PDAC) continues to be associated with a poor prognosis. This systematic review aimed to summarize the literature regarding potential prognostic biomarkers to facilitate validation studies and clinical application. METHODS: A systematic review was performed (2004-2014) according to PRISMA guidelines. Studies were ranked using REMARK criteria and the following outcomes were examined: overall/disease free survival, nodal involvement, tumour characteristics, metastasis, recurrence and resectability...
August 2016: HPB: the Official Journal of the International Hepato Pancreato Biliary Association
https://www.readbyqxmd.com/read/27484908/expanding-the-clinical-spectrum-of-col1a1-mutations-in-different-forms-of-glaucoma
#20
Lucia Mauri, Steffen Uebe, Heinrich Sticht, Urs Vossmerbaeumer, Nicole Weisschuh, Emanuela Manfredini, Edoardo Maselli, Mariacristina Patrosso, Robert N Weinreb, Silvana Penco, André Reis, Francesca Pasutto
BACKGROUND: Primary congenital glaucoma (PCG) and early onset glaucomas are one of the major causes of children and young adult blindness worldwide. Both autosomal recessive and dominant inheritance have been described with involvement of several genes including CYP1B1, FOXC1, PITX2, MYOC and PAX6. However, mutations in these genes explain only a small fraction of cases suggesting the presence of further candidate genes. METHODS: To elucidate further genetic causes of these conditions whole exome sequencing (WES) was performed in an Italian patient, diagnosed with PCG and retinal detachment, and his unaffected parents...
2016: Orphanet Journal of Rare Diseases
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