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https://www.readbyqxmd.com/read/28513611/glaucoma-spectrum-and-age-related-prevalence-of-individuals-with-foxc1-and-pitx2-variants
#1
Emmanuelle Souzeau, Owen M Siggs, Tiger Zhou, Anna Galanopoulos, Trevor Hodson, Deepa Taranath, Richard A Mills, John Landers, John Pater, James E Smith, James E Elder, Julian L Rait, Paul Giles, Vivek Phakey, Sandra E Staffieri, Lisa S Kearns, Andrew Dubowsky, David A Mackey, Alex W Hewitt, Jonathan B Ruddle, Kathryn P Burdon, Jamie E Craig
Variation in FOXC1 and PITX2 is associated with Axenfeld-Rieger syndrome, characterised by structural defects of the anterior chamber of the eye and a range of systemic features. Approximately half of all affected individuals will develop glaucoma, but the age at diagnosis and the phenotypic spectrum have not been well defined. As phenotypic heterogeneity is common, we aimed to delineate the age-related penetrance and the full phenotypic spectrum of glaucoma in FOXC1 or PITX2 carriers recruited through a national disease registry...
May 17, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28505344/genetics-of-glaucoma
#2
Janey L Wiggs, Louis R Pasquale
Genetic and genomic studies, including genome-wide association studies (GWAS) have accelerated the discovery of genes contributing to glaucoma, the leading cause of irreversible blindness world-wide. Glaucoma can occur at all ages, with Mendelian inheritance typical for rare early onset disease (before age 40) and complex inheritance evident in common adult-onset forms of disease. Recent studies have suggested possible therapeutic targets for some patients with early-onset glaucoma based on the molecular and cellular events caused by MYOC, OPTN and TBK1 mutations...
May 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28493031/foxc1-overexpression-is-a-marker-of-poor-response-to-anthracycline-based-adjuvant-chemotherapy-in-sporadic-triple-negative-breast-cancer
#3
Y L Xu, R Yao, J Li, Y D Zhou, F Mao, B Pan, Q Sun
PURPOSE: Because of its aggressive characteristics and poor prognosis, triple-negative breast cancer (TNBC) has become a hot topic in cancer research. Chemotherapy is currently the only treatment for patients with TNBC. The transcription factor FOXC1 has been associated with TNBC prognosis, but little is known about its effect on chemosensitivity. The aim of this study was to investigate the effects of FOXC1 on chemosensitivity. METHODS: A case-control study was performed on 25 TNBC patients who experienced relapse and/or metastasis...
June 2017: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/28474731/a-new-gene-expression-signature-for-triple-negative-breast-cancer-using-frozen-fresh-tissue-before-neoadjuvant-chemotherapy
#4
Sandra Karina Santuario-Facio, Servando Cardona-Huerta, Yadira Xitlalli Perez-Paramo, Victor Trevino, Francisco Hernandez-Cabrera, Augusto Rojas-Martinez, Grecia Uscanga-Perales, Jorge Luis Martinez-Rodriguez, Lizeth Martinez-Jacobo, Gerardo Padilla-Rivas, Gerardo Muñoz-Maldonado, Juan Francisco Gonzalez-Guerrero, Javier Valero-Gomez, Ana Lorena Vazquez-Guerrero, Herminia Guadalupe Martinez-Rodriguez, Alvaro Barboza-Quintana, Oralia Barboza-Quintana, Raquel Garza-Guajardo, Rocio Ortiz-Lopez
Triple-negative breast cancer (TNBC) is an aggressive subtype of breast cancer tumors. Comparisons between TNBC and non-triple negative breast cancer (nTNBC) may help to differentiate key components involved in TNBC neoplasms. The purpose of the study was to analyze the expression profile of TNBC versus nTNBC tumors in a homogeneous population from northeastern Mexico. A prospective study of 50 patients was conducted (25 TNBC and 25 nTNBC). Clinic parameters were equally distributed for TNBC and nTNBC: age at diagnosis (51 vs 47 years, p=0...
May 4, 2017: Molecular Medicine
https://www.readbyqxmd.com/read/28468052/-advances-of-foxc1-transcription-factor-in-cancer
#5
Y Zhang, M D Lai
No abstract text is available yet for this article.
May 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/28435457/tumor-hypoxia-regulates-forkhead-box-c1-to-promote-lung-cancer-progression
#6
Yu-Jung Lin, Woei-Cherng Shyu, Chi-Wei Chang, Chi-Chung Wang, Chung-Pu Wu, Hsu-Tung Lee, Liang-Jwu Chen, Chia-Hung Hsieh
Forkhead box C1 (FOXC1) is a member of the forkhead family of transcription factors that are characterized by a DNA-binding forkhead domain. Increasing evidence indicates that FOXC1 is involved in tumor progression. However, the role of tumor hypoxia in FOXC1 regulation and its impact on lung cancer progression are unclear. Here, we report that FOXC1 was upregulated in hypoxic areas of lung cancer tissues from rodents or humans. Hypoxic stresses significantly induced FOXC1 expression. Moreover, hypoxia activated FOXC1 transcription via direct binding of hypoxia-inducible factor-1α (HIF-1α) to the hypoxia-responsive element (HRE) in the FOXC1 promoter...
2017: Theranostics
https://www.readbyqxmd.com/read/28397860/whole-exome-sequencing-of-congenital-glaucoma-patients-reveals-hypermorphic-variants-in-gpatch3-a-new-gene-involved-in-ocular-and-craniofacial-development
#7
Jesús-José Ferre-Fernández, José-Daniel Aroca-Aguilar, Cristina Medina-Trillo, Juan-Manuel Bonet-Fernández, Carmen-Dora Méndez-Hernández, Laura Morales-Fernández, Marta Corton, María-José Cabañero-Valera, Marta Gut, Raul Tonda, Carmen Ayuso, Miguel Coca-Prados, Julián García-Feijoo, Julio Escribano
Congenital glaucoma (CG) is a heterogeneous, inherited and severe optical neuropathy that originates from maldevelopment of the anterior segment of the eye. To identify new disease genes, we performed whole-exome sequencing of 26 unrelated CG patients. In one patient we identified two rare, recessive and hypermorphic coding variants in GPATCH3, a gene of unidentified function, and 5% of a second group of 170 unrelated CG patients carried rare variants in this gene. The recombinant GPATCH3 protein activated in vitro the proximal promoter of CXCR4, a gene involved in embryo neural crest cell migration...
April 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28386355/foxc1-promotes-proliferation-and-epithelial-mesenchymal-transition-in-cervical-carcinoma-through-the-pi3k-akt-signal-pathway
#8
Liu Huang, Zheng Huang, Yi Fan, Langchi He, Ming Ye, Kun Shi, Bing Ji, Jiezhen Huang, Yibin Wang, Qiufen Li
Recently, Forkhead box C1 (FOXC1) has been identified to play important roles in human cancers. However, the clinical significance and biological role of FOXC1 in cervical cancer remains unclear. Here, we showed that FOXC1 was frequently overexpressed in cervical cancer versus adjacent non-tumor tissues. Overexpression of FOXC1 was significantly correlated with tumor stage (P=0.011), tumor size (P=0.034), stromal invasion (P=0.001), and lymph nodes metastasis (P=0.008). Survival analysis further suggested that high FOXC1 expression was significantly correlated with poor overall survival (P=0...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/28381165/the-apoptotic-and-genomic-studies-on-a549-cell-line-induced-by-silver-nitrate
#9
Ayse Kaplan, Gulsen Akalin Ciftci, Hatice Mehtap Kutlu
Lung cancer is the leading cause of male cancer deaths worldwide. Metal-based anticancer drugs have evolved significantly during the past decades. Recently, silver ions have been investigated for their anticancer effects. We aimed to study the time-course cytotoxic effects of silver nitrate on A549 adenocarcinomic human alveolar basal epithelial cells to provide insights into the molecular-level understanding of growth suppression mechanism involved in apoptosis. The influences of silver nitrate were studied via MTT assay, flow cytometry, immunocytochemical, confocal and transmission electron microscopy, and microarray assays...
April 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/28376685/down-regulation-of-microrna-133-predicts-poor-overall-survival-and-regulates-the-growth-and-invasive-abilities-in-glioma
#10
Yu Liu, Lili Han, Yahui Bai, Wei Du, Bo Yang
miRNAs were reported as oncogene or tumour suppressors in various cancers and played important roles in tumour development and progression. Dysregulated miR-133 has been reported in several cancers, however, the expression and biological function of miR-133 in glioma remained unclear. In this study, we found that miR-133 expression level was significantly decreased in glioma tissues and cell lines by RT-qPCR. Then miR-133 mimics were used to evaluate the effects of miR-133 on cell proliferation and invasion in vitro...
April 4, 2017: Artificial Cells, Nanomedicine, and Biotechnology
https://www.readbyqxmd.com/read/28344652/molecular-cytogenetic-characterisation-of-a-novel-de-novo-ring-chromosome-6-involving-a-terminal-6p-deletion-and-terminal-6q-duplication-in-the-different-arms-of-the-same-chromosome
#11
Nikolai Paul Pace, Frideriki Maggouta, Melissa Twigden, Isabella Borg
BACKGROUND: Ring chromosome 6 is a rare sporadic chromosomal abnormality, associated with extreme variability in clinical phenotypes. Most ring chromosomes are known to have deletions on one or both chromosomal arms. Here, we report an atypical and unique ring chromosome 6 involving both a distal deletion and a distal duplication on the different arms of the same chromosome. CASE PRESENTATION: In a patient with intellectual disability, short stature, microcephaly, facial dysmorphology, congenital heart defects and renovascular disease, a ring chromosome 6 was characterised using array-CGH and dual-colour FISH...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28335041/the-cerebellum-and-its-wrapping-meninge-developmental-interplay-between-two-major-structures
#12
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
#13
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
#14
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
#15
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
#16
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...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28223138/foxc1-and-foxc2-are-necessary-to-maintain-glomerular-podocytes
#17
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
#18
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
#19
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
#20
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
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