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https://www.readbyqxmd.com/read/29023440/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
This corrects the article DOI: 10.1038/ejhg.2017.59.
November 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28981929/-genetic-analysis-of-two-cases-with-dandy-walker-deformed-fetus
#2
Juan Yao, Rong Fang, Xueping Shen, Guosong Shen, Su Zhang
OBJECTIVE: To explore the genetic etiology of two fetuses with Dandy-Walker malformation using single nucleotide polymorphism microarray (SNP-array). METHODS: The fetuses and their parents were subjected to G banding karyotype analysis. The fetuses were also subjected to SNP-array analysis. RESULTS: The parents of both fetuses showed a normal karyotype. One fetus has a 46,X,?i(X)(q10), while for another conventional cell culture has failed...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28979898/a-novel-mutation-in-foxc1-in-a-lebanese-family-with-congenital-heart-disease-and-anterior-segment-dysgenesis-potential-roles-for-nfatc1-and-dpt-in-the-phenotypic-variations
#3
Athar Khalil, Christiane Al-Haddad, Hadla Hariri, Kamel Shibbani, Fadi Bitar, Mazen Kurban, Georges Nemer, Mariam Arabi
Congenital heart diseases (CHDs) are still the leading cause of death in neonates. Anterior segment dysgenesis is a broad clinical phenotype that affects the normal development of the eye, leading in most of the cases to glaucoma which is still a major cause of blindness for children and adolescents. Despite tremendous insights gained from genetic studies, a clear genotype-phenotype correlation is still difficult to draw. In Lebanon, a small country with still a high rate of consanguineous marriages, there are little data on the epidemiology of glaucoma amongst children with or without CHD...
2017: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28972279/axenfeld-rieger-syndrome
#4
REVIEW
Morteza Seifi, Michael A Walter
Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of developmental disorders affecting primarily the anterior segment of the eye, often leading to secondary glaucoma. Patients with ARS may also present with systemic changes including dental defects, mild craniofacial dysmorphism, and umbilical anomalies. ARS is inherited in an autosomal dominant fashion; the underlying defect in 40% of patients is mutations in PITX2 or FOXC1. Here, an overview of the clinical spectrum of ARS is provided...
October 3, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28926972/juvenile-moyamoya-and-craniosynostosis-in-a-child-with-deletion-1p32p31-expanding-the-clinical-spectrum-of-1p32p31-deletion-syndrome-and-a-review-of-the-literature
#5
Paolo Prontera, Daniela Rogaia, Amedea Mencarelli, Valentina Ottaviani, Ester Sallicandro, Giorgio Guercini, Susanna Esposito, Anna Bersano, Giuseppe Merla, Gabriela Stangoni
Moyamoya angiopathy (MA) is a rare cerebrovascular disorder characterised by the progressive occlusion of the internal carotid artery. Its aetiology is uncertain, but a genetic background seems likely, given the high MA familial rate. To investigate the aetiology of craniosynostosis and juvenile moyamoya in a 14-year-old male patient, we performed an array-comparative genomic hybridisation revealing a de novo interstitial deletion of 8.5 Mb in chromosome region 1p32p31. The deletion involved 34 protein coding genes, including NF1A, whose haploinsufficiency is indicated as being mainly responsible for the 1p32-p31 chromosome deletion syndrome phenotype (OMIM 613735)...
September 17, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28912845/forkhead-box-c1-is-targeted-by-microrna-133b-and-promotes-cell-proliferation-and-migration-in-osteosarcoma
#6
Lu Deng, Tang Liu, Beibei Zhang, Haishan Wu, Jingping Zhao, Jindong Chen
Forkhead box C1 (FOXC1) has been demonstrated to act as an oncogene in a number of malignant tumors, though its underlying mechanism of action in osteosarcoma (OS) remains unknown. The present study evaluated the expression and regulatory role of FOXC1 in OS. Reverse transcription-quantitative polymerase chain reaction and western blot data indicated that FOXC1 was significantly upregulated in OS tissues and cell lines when compared with adjacent non-tumor tissues (P<0.001) and normal human osteoblast cells (P<0...
October 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28911203/mutations-of-conserved-non-coding-elements-of-pitx2-in-patients-with-ocular-dysgenesis-and-developmental-glaucoma
#7
Meredith E Protas, Eric Weh, Tim Footz, Jay Kasberger, Scott C Baraban, Alex V Levin, L Jay Katz, Robert Ritch, Michael A Walter, Elena V Semina, Douglas B Gould
Mutations in FOXC1 and PITX2 constitute the most common causes of ocular anterior segment dysgenesis (ASD), and confer a high risk for secondary glaucoma. The genetic causes underlying ASD in approximately half of patients remain unknown, despite many of them being screened by whole exome sequencing. Here, we performed whole genome sequencing on DNA from two affected individuals from a family with dominantly inherited ASD and glaucoma to identify a 748-kb deletion in a gene desert that contains conserved putative PITX2 regulatory elements...
September 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28893223/brca2-carriers-with-male-breast-cancer-show-elevated-tumour-methylation
#8
Siddhartha Deb, Kylie L Gorringe, Jia-Min B Pang, David J Byrne, Elena A Takano, kConFab Investigators, Alexander Dobrovic, Stephen B Fox
BACKGROUND: Male breast cancer (MBC) represents a poorly characterised group of tumours, the management of which is largely based on practices established for female breast cancer. However, recent studies demonstrate biological and molecular differences likely to impact on tumour behaviour and therefore patient outcome. The aim of this study was to investigate methylation of a panel of commonly methylated breast cancer genes in familial MBCs. METHODS: 60 tumours from 3 BRCA1 and 25 BRCA2 male mutation carriers and 32 males from BRCAX families were assessed for promoter methylation by methylation-sensitive high resolution melting in a panel of 10 genes (RASSF1A, TWIST1, APC, WIF1, MAL, RARβ, CDH1, RUNX3, FOXC1 and GSTP1)...
September 11, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28861321/foxc1-promotes-epithelial-mesenchymal-transition-through-pbx1-dependent-transactivation-of-zeb2-in-esophageal-cancer
#9
Xiaoming Zhu, Li Wei, Yangqiu Bai, Sen Wu, Shuangyin Han
Esophageal cancer (EC) was one of the most lethal malignancies worldwide with intricate mechanisms. Here we reported that Forkhead box C1 (FoxC1), a member of the forkhead family transcription factors, was up-regulated in EC tissues and cell lines in comparison with controls. FoxC1 levels were negatively correlated with tumor stage, lymph node metastasis and survival status of EC patients. Knockdown of FoxC1 inhibited the proliferation, colony formation and epithelial-mesenchymal transition (EMT) of EC cells, while overexpression of FoxC1 promoted these biological behaviors...
2017: American Journal of Cancer Research
https://www.readbyqxmd.com/read/28830838/members-of-fox-family-could-be-drug-targets-of-cancers
#10
REVIEW
Jinhua Wang, Wan Li, Ying Zhao, De Kang, Weiqi Fu, Xiangjin Zheng, Xiaocong Pang, Guanhua Du
FOX families play important roles in biological processes, including metabolism, development, differentiation, proliferation, apoptosis, migration, invasion and longevity. Here we are focusing on roles of FOX members in cancers, FOX members and drug resistance, FOX members and stem cells. Finally, FOX members as drug targets of cancer treatment were discussed. Future perspectives of FOXC1 research were described in the end.
August 19, 2017: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28819440/microrna-204-5p-inhibits-invasion-and-metastasis-of-laryngeal-squamous-cell-carcinoma-by-suppressing-forkhead-box-c1
#11
Wei Gao, Yongyan Wu, Xiaoling He, Chunming Zhang, Meixia Zhu, Bo Chen, Qingqing Liu, Xukuan Qu, Weiyan Li, Shuxin Wen, Binquan Wang
Background and aim: Understanding the molecular biological mechanisms underlying laryngeal squamous cell carcinoma (LSCC) invasion and metastasis is crucial for diagnosis, treatment, and prognosis. We aimed to examine the expression of the tumor suppressor microRNA-204-5p (miR-204-5p) and its target gene, forkhead box C1 (FOXC1), in human LSCC and explore their roles in the malignant behaviors of LSCC Hep-2 and TU-177 cells. Methods: The regulatory effects of miR-204-5p on the 3' untranslated region of FOXC1 predicted by bioinformatics were tested by dual-luciferase reporter assay...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/28810526/microrna-374c-5p-regulates-the-invasion-and-migration-of-cervical-cancer-by-acting-on-the-foxc1-snail-pathway
#12
Yi Huang, Hao Huang, Mojuan Li, Xiuqing Zhang, Yusong Liu, Yifeng Wang
Some microRNAs (miRNAs) have been implicated in cervical cancer development and progression. However, the roles and mechanisms of several miRNAs in epithelial-mesenchymal transition (EMT) in cervical cancer remain poorly understood. Here, we conducted a microarray analysis and found that miR-374c-5p was most down-regulated miRNA in TGFβ1-treated cervical cancer cells compared to the expression in parental cell lines. Ectopic overexpression of miR-374c-5p inhibited cervical cancerl invasion and migration in TGFβ1- treated cervical cancer cells...
October 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28754980/regulation-of-sema3c-and-the-interaction-between-cardiac-neural-crest-and-second-heart-field-during-outflow-tract-development
#13
Kazuki Kodo, Shinsuke Shibata, Sachiko Miyagawa-Tomita, Sang-Ging Ong, Hiroshi Takahashi, Tsutomu Kume, Hideyuki Okano, Rumiko Matsuoka, Hiroyuki Yamagishi
The cardiac neural crest cells (cNCCs) and the second heart field (SHF) play key roles in development of the cardiac outflow tract (OFT) for establishment of completely separated pulmonary and systemic circulations in vertebrates. A neurovascular guiding factor, Semaphorin 3c (Sema3c), is required for the development of the OFT, however, its regulation of the interaction between cNCCs and SHF remains to be determined. Here, we show that a Sema3c is a candidate that mediates interaction between cNCCs and the SHF during development of the OFT...
July 28, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28704526/chi-mir-4110-promotes-granulosa-cell-apoptosis-by-targeting-sma-and-mad-related-protein-2-smad2-in-the-caprine-ovary
#14
Xiaopeng An, Yuxuan Song, Jinxing Hou, Yue Zhang, Kaiwen Chen, Haidong Ma, Xinyan Zhao, Guang Li, Kexin Gao, Shan Wang, Binyun Cao, Yueyu Bai
Follicular atresia mainly results from the apoptosis of granulosa cells (GCs). Whilst our previous investigations examined the role of chi-miR-4110 in regulating ovarian function, the present study detected the role of chi-miR-4110 in GC development. We transfected caprine GCs cultured in vitro with chi-miR-4110 mimics. Results revealed that chi-miR-4110 decreased mRNA and protein levels of Smad2 by targeting its 3'-untranslated region (3'UTR). FoxC1 and Sp1 mRNA and protein levels markedly increased, whereas those of bHLHe22 significantly decreased (P<0...
2017: PloS One
https://www.readbyqxmd.com/read/28684636/foxc1-regulates-fgfr1-isoform-switching-to-promote-invasion-following-tgf%C3%AE-induced-emt
#15
Alex Hopkins, Mackenzie L Coatham, Fred B Berry
Epithelial-to-mesenchymal transition (EMT) is an important physiologic process that drives tissue formation during development, but also contributes to disease pathogenesis, including fibrosis and cancer metastasis. Elevated expression of the FOXC1 transcription factor has been detected in several metastatic cancers that have undergone EMT. Therefore, mechanistic insight into the role of FOXC1 in the initiation of the EMT process was sought. It was determined that although Foxc1 transcript expression was elevated following TGFβ1-induced EMT of NMuMG cells, FOXC1 was not required for this induction...
July 6, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28681995/differences-in-neural-crest-sensitivity-to-ethanol-account-for-the-infrequency-of-anterior-segment-defects-in-the-eye-compared-with-craniofacial-anomalies-in-a-zebrafish-model-of-fetal-alcohol-syndrome
#16
Jessica Eason, Antionette L Williams, Bahaar Chawla, Christian Apsey, Brenda L Bohnsack
BACKGROUND: Ethanol (ETOH) exposure during pregnancy is associated with craniofacial and neurologic abnormalities, but infrequently disrupts the anterior segment of the eye. In these studies, we used zebrafish to investigate differences in the teratogenic effect of ETOH on craniofacial, periocular, and ocular neural crest. METHODS: Zebrafish eye and neural crest development was analyzed by means of live imaging, TUNEL (terminal deoxynucleotidyl transferase dUTP nick end labeling) assay, immunostaining, detection of reactive oxygen species, and in situ hybridization...
July 6, 2017: Birth defects research
https://www.readbyqxmd.com/read/28657660/foxc1-haploinsufficiency-due-to-6p25-deletion-in-a-patient-with-rapidly-progressing-aortic-valve-disease
#17
Caroline Ovaert, Tiffany Busa, Emilie Faure, Chantal Missirian, Nicole Philip, Florent Paoli, Mathieu Milh, Loic Macé, Stephane Zaffran
6p25 deletion is a rare but well-known entity. The main clinical features include an abnormal facial appearance, developmental delay, and ocular anomalies. Cardiac anomalies are frequently seen but remain poorly delineated. We describe a 4-year-old girl with 6p25.3 deletion, which includes the FOXC1 gene, typical dysmorphic features associated with developmental delay and oculo-motor anomalies. Aortic valve dysplasia was diagnosed early in life. The cardiac lesion progressed very rapidly between the age of 3 and 4 years requiring aortic valve replacement...
June 28, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28649419/identification-of-transcription-factors-that-promote-the-differentiation-of-human-pluripotent-stem-cells-into-lacrimal-gland-epithelium-like-cells
#18
Masatoshi Hirayama, Shigeru B H Ko, Tetsuya Kawakita, Tomohiko Akiyama, Sravan K Goparaju, Atsumi Soma, Yuhki Nakatake, Miki Sakota, Nana Chikazawa-Nohtomi, Shigeto Shimmura, Kazuo Tsubota, Minoru S H Ko
Dry eye disease is the most prevalent pathological condition in aging eyes. One potential therapeutic strategy is the transplantation of lacrimal glands, generated in vitro from pluripotent stem cells such as human embryonic stem cells, into patients. One of the preceding requirements is a method to differentiate human embryonic stem cells into lacrimal gland epithelium cells. As the first step for this approach, this study aims to identify a set of transcription factors whose overexpression can promote the differentiation of human embryonic stem cells into lacrimal gland epithelium-like cells...
2017: NPJ Aging and Mechanisms of Disease
https://www.readbyqxmd.com/read/28635400/the-long-noncoding-rna-foxcut-promotes-proliferation-and-migration-by-targeting-foxc1-in-nasopharyngeal-carcinoma
#19
Yu-Zhong Xu, Fang-Fang Chen, Yu Zhang, Qin-Fei Zhao, Xiao-Long Guan, Hai-Yong Wang, Ang Li, Xin Lv, Shu-Sheng Song, Ying Zhou, Xiao-Jun Li
Long noncoding RNAs play an important role in various biological processes, including tumorigenesis. FOXC1 (Forkhead box C1) is a member of the Forkhead box family of transcription factors and plays a crucial role in nasopharyngeal carcinoma. In this study, a novel long noncoding RNA (FOXCUT) located upstream of FOXC1 was investigated in 42 nasopharyngeal carcinoma patients. Our analysis revealed that the expression levels of FOXCUT and FOXC1 in nasopharyngeal carcinoma tissues were significantly higher than those observed in chronic nasopharyngitis tissues and that FOXCUT expression was positively correlated with FOXC1 expression...
June 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/28629477/identification-of-egf-nf-%C3%AE%C2%BAb-foxc1-signaling-axis-in-basal-like-breast-cancer
#20
Stacey Chung, Yanli Jin, Bingchen Han, Ying Qu, Bowen Gao, Armando E Giuliano, Xiaojiang Cui
BACKGROUND: The pathogenesis of human basal-like breast cancer (BLBC) is not well understood and patients with BLBC have a poor prognosis. Expression of the epidermal growth factor receptor (EGFR) and nuclear factor-κB (NF-κB) is well-known to be upregulated in BLBC. The forkhead box C1 (FOXC1) transcription factor, an important prognostic biomarker specific for BLBC, has been shown to be induced by EGF and is critical for EGF effects in breast cancer cells. How FOXC1 is transcriptionally activated in BLBC is not clear...
June 19, 2017: Cell Communication and Signaling: CCS
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