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https://www.readbyqxmd.com/read/28335041/the-cerebellum-and-its-wrapping-meninge-developmental-interplay-between-two-major-structures
#1
Martin Catala
Meninges have long been considered as a protective and supportive tissue for the central nervous system. Nevertheless, new developmental roles are now attributed to them. The meninges that surround the cerebellum come from the cephalic mesoderm. They are essential for the cerebellum to develop normally. They induce and maintain the basal lamina and glia limitans. In the absence of these structures, the external granular cells of the cerebellum migrate aberrantly and penetrate the subarachnoid space. The molecules involved in the recognition between the cerebellar primordium and the basal lamina belong to two groups in humans: dystroglycan and laminin on the one hand, and GPR56 and collagen III on the other...
March 23, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28288141/foxc1-an-emerging-marker-and-therapeutic-target-for-cancer
#2
REVIEW
B Han, N Bhowmick, Y Qu, S Chung, A E Giuliano, X Cui
The Forkhead box C1 (FOXC1) transcription factor is involved in normal embryonic development and regulates the development and function of many organs. Most recently, a large body of literature has shown that FOXC1 plays a critical role in tumor development and metastasis. Clinical studies have demonstrated that elevated FOXC1 expression is associated with poor prognosis in many cancer subtypes, such as basal-like breast cancer (BLBC). FOXC1 is highly and specifically expressed in BLBC as opposed to other breast cancer subtypes...
March 13, 2017: Oncogene
https://www.readbyqxmd.com/read/28287613/knockdown-of-long-non-coding-rna-xist-increases-blood-tumor-barrier-permeability-and-inhibits-glioma-angiogenesis-by-targeting-mir-137
#3
H Yu, Y Xue, P Wang, X Liu, J Ma, J Zheng, Z Li, Z Li, H Cai, Y Liu
Antiangiogenic therapy plays a significant role in combined glioma treatment. However, poor permeability of the blood-tumor barrier (BTB) limits the transport of chemotherapeutic agents, including antiangiogenic drugs, into tumor tissues. Long non-coding RNAs (lncRNAs) have been implicated in various diseases, especially malignant tumors. The present study found that lncRNA X-inactive-specific transcript (XIST) was upregulated in endothelial cells that were obtained in a BTB model in vitro. XIST knockdown increased BTB permeability and inhibited glioma angiogenesis...
March 13, 2017: Oncogenesis
https://www.readbyqxmd.com/read/28253399/foxc1-and-foxc2-in-the-neural-crest-are-required-for-ocular-anterior-segment-development
#4
Seungwoon Seo, Lisheng Chen, Wenzhong Liu, Demin Zhao, Kathryn M Schultz, Amy Sasman, Ting Liu, Hao F Zhang, Philip J Gage, Tsutomu Kume
Purpose: The large Forkhead (Fox) transcription factor family has essential roles in development, and mutations cause a wide range of ocular and nonocular disease. One member, Foxc2 is expressed in neural crest (NC)-derived periocular mesenchymal cells of the developing murine eye; however, its precise role in the development, establishment, and maintenance of the ocular surface has yet to be investigated. Methods: To specifically delete Foxc2 from NC-derived cells, conditional knockout mice for Foxc2 (NC-Foxc2-/-) were generated by crossing Foxc2F mice with Wnt1-Cre mice...
March 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28226328/a-de-novo-pericentric-inversion-in-chromosome-4-associated-with-disruption-of-pitx2-and-a-microdeletion-in-4p15-2-in-a-patient-with-axenfeld-rieger-syndrome-and-developmental-delay
#5
Živilė Maldžienė, Eglė Preikšaitienė, Salomėja Ignotienė, Natalija Kapitanova, Algirdas Utkus, Vaidutis Kučinskas
Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of autosomal dominantly inherited malformations that predominantly affect the eye but are also associated with craniofacial dysmorphism and dental abnormalities. A broad spectrum of genetic alterations involving PITX2 and FOXC1 lead to ARS. We report on a 4-year-old girl with clinical features of ARS and developmental delay due to a de novo apparently balanced pericentric inversion in chromosome 4. This report emphasizes that complementary investigations are necessary to precisely characterize chromosomal rearrangements...
February 23, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28223138/foxc1-and-foxc2-are-necessary-to-maintain-glomerular-podocytes
#6
Masaru Motojima, Tsutomu Kume, Taiji Matsusaka
Foxc1 and Foxc2 (Foxc1/2) are transcription factors involved in many biological processes. In adult kidneys, expression of Foxc1/2 is confined to the glomerular epithelial cells, i.e., podocytes. To bypass embryonic lethality of Foxc1/2 null mice, mice ubiquitously expressing inducible-Cre (ROSA26-CreER(T2)) or mice expressing Cre in podocytes (Nephrin-Cre) were mated with floxed-Foxc1 and floxed-Foxc2 mice. The CreER(T2) was activated in adult mice by administrations of tamoxifen. Eight weeks after tamoxifen treatment, ROSA26-CreER(T2); Foxc1(+/flox); Foxc2(flox/flox) mice developed microalbuminuria, while ROSA26-Cre ER(T2); Foxc1(flox/flox); Foxc2(+/flox) mice had no microalbuminuria...
March 15, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/28111183/brachydactyly-type-e-in-an-italian-family-with-6p25-trisomy
#7
Paolo Fontana, Cristina Tortora, Roberta Petillo, Michela Malacarne, Simona Cavani, Martina Miniero, Paola D'Ambrosio, Davide De Brasi, Maria Antonietta Pisanti
Brachydactyly type E is a congenital limb malformation characterized by small hands and feet as a result of shortened metacarpals and metatarsals. Genetic causes of this anomaly are heterogeneous and only partially characterized. In this report we describe an Italian family in which four subjects share brachydactyly type E and a 3 Mb microduplication in region 6p25. The duplication involves the gene FOXC1, expressed during the osteoblast differentiation, which appears a potential candidate gene for brachydactyly...
March 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28092268/phenotypic-outcomes-in-mouse-and-human-foxc1-dependent-dandy-walker-cerebellar-malformation-suggest-shared-mechanisms
#8
Parthiv Haldipur, Derek Dang, Kimberly A Aldinger, Olivia K Janson, Fabien Guimiot, Homa Adle-Biasette, William B Dobyns, Joseph R Siebert, Rosa Russo, Kathleen J Millen
FOXC1 loss contributes to Dandy-Walker malformation (DWM), a common human cerebellar malformation. Previously, we found that complete Foxc1 loss leads to aberrations in proliferation, neuronal differentiation and migration in the embryonic mouse cerebellum (Haldipur et al., 2014). We now demonstrate that hypomorphic Foxc1 mutant mice have granule and Purkinje cell abnormalities causing subsequent disruptions in postnatal cerebellar foliation and lamination. Particularly striking is the presence of a partially formed posterior lobule which echoes the posterior vermis DW 'tail sign' observed in human imaging studies...
January 16, 2017: ELife
https://www.readbyqxmd.com/read/28028927/foxc1-is-associated-with-estrogen-receptor-alpha-and-affects-sensitivity-of-tamoxifen-treatment-in-breast-cancer
#9
Jinhua Wang, Yali Xu, Li Li, Lin Wang, Ru Yao, Qiang Sun, Guanhua Du
FOXC1 is a member of Forkhead box transcription factors that participates in embryonic development and tumorigenesis. Our previous study demonstrated that FOXC1 was highly expressed in triple-negative breast cancer. However, it remains unclear what is the relation between FOXC1 and ERα and if FOXC1 regulates expression of ERα. To explore relation between FOXC1 and ERα and discover regulation of ERα expression by FOXC1 in breast cancer, we analyzed data assembled in the Oncomine and TCGA, and found that there was significantly higher FOXC1 expression in estrogen receptor-negative breast cancer than that in estrogen receptor-positive breast cancer...
January 2017: Cancer Medicine
https://www.readbyqxmd.com/read/27907090/forkhead-box-c1-regulates-human-primary-keratinocyte-terminal-differentiation
#10
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
#11
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
#12
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...
February 2017: 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
#13
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
#14
Paul Weinberger, Sithara Raju Ponny, Hongyan Xu, Shan Bai, Robert Smallridge, John Copland, Ashok Sharma
BACKGROUND: 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. METHODS: The National Center for Biotechnology Information 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...
February 2017: 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
#15
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...
January 2017: 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
#16
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...
January 2017: 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
#17
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...
November 15, 2016: Oncotarget
https://www.readbyqxmd.com/read/27697311/axenfeld-rieger-syndrome-and-leukoencephalopathy-caused-by-a-mutation-in-foxc1
#18
Manish Kumar, Chelsea Chambers, Radhika Dhamija
No abstract text is available yet for this article.
January 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/27692691/targeted-methylation-sequencing-reveals-dysregulated-wnt-signaling-in-parkinson-disease
#19
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
#20
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
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