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https://www.readbyqxmd.com/read/28184912/interaction-between-transcription-factors-pax6-pax6-5a-and-specific-members-of-mir-183-96-182-cluster-may-contribute-to-glioma-progression-in-glioblastoma-cell-lines
#1
Evangelos Pavlakis, Anton B Tonchev, Ara Kaprelyan, Yavor Enchev, Anastassia Stoykova
A misbalance between proliferation and differentiation of neural stem cells in niches for adult brain neurogenesis is a key mechanism in glioma pathogenesis. In the adult brain, the expression of Pax6 marks stem cells in the forebrain neurogenic niche. We analyzed the expression profile of the two active in vertebrates Pax6 isoforms, Pax6 and Pax6-5a, along with the expression of microRNA cluster miR-183-96-182 in a large set of glioma patient specimens and glioma cell lines which showed opposite expression level, low and high, respectively, with the progression of tumor malignancy...
March 2017: Oncology Reports
https://www.readbyqxmd.com/read/28167242/epigenome-wide-dna-methylation-profiling-identifies-differential-methylation-biomarkers-in-high-grade-bladder-cancer
#2
Ekaterina Olkhov-Mitsel, Andrea J Savio, Ken J Kron, Vaijayanti V Pethe, Thomas Hermanns, Neil E Fleshner, Bas W van Rhijn, Theodorus H van der Kwast, Alexandre R Zlotta, Bharati Bapat
Epigenetic changes, including CpG island hypermethylation, occur frequently in bladder cancer (BC) and may be exploited for BC detection and distinction between high-grade (HG) and low-grade (LG) disease. Genome-wide methylation analysis was performed using Agilent Human CpG Island Microarrays to determine epigenetic differences between LG and HG cases. Pathway enrichment analysis and functional annotation determined that the most frequently methylated pathways in HG BC were enriched for anterior/posterior pattern specification, embryonic skeletal system development, neuron fate commitment, DNA binding, and transcription factor activity...
February 3, 2017: Translational Oncology
https://www.readbyqxmd.com/read/28157223/novel-variants-in-pax6-gene-caused-congenital-aniridia-in-two-chinese-families
#3
R Zhang, S Linpeng, X Wei, H Li, Y Huang, J Guo, Q Wu, D Liang, L Wu
PurposeTo reveal the underlying genetic defect in two four-generation Chinese families with aniridia and explore the pathologic mechanism.MethodsFull ophthalmic examinations were performed in two families with aniridia. The PAX6 gene was directly sequenced in patients of two families, and the detected variants were screened in unaffected family members and two hundred unrelated healthy controls. Real-time quantitative PCR was used to explore pathologic mechanisms of the two variants.ResultsAniridia, cataract, and oscillatory nystagmus were observed in patients of the two families...
February 3, 2017: Eye
https://www.readbyqxmd.com/read/28149772/differentiation-potential-of-human-adipose-tissue-derived-stem-cells-into-photoreceptors-through-explants-culture-and-enzyme-methods
#4
Wei-Wei Xu, Li Huang, Kelvin K L Chong, Doreen S Y Leung, Benjamin F L Li, Zheng-Qin Yin, Yi-Fei Huang, Chi Pui Pang
AIM: To investigate the retinal photoreceptor differentiation potential of human orbital adipose tissue-derived stem cells (ADSCs) generated by enzyme (EN) and explant (EX) culture methods. METHODS: We investigated potentials of human orbital ADSCs to differentiate into photoreceptors through EN and EX culture methods. EN and EX orbital ADSCs were obtained from the same donor during rehabilitative orbital decompression, and then were subject to a 3-step induction using Noggin, DKK-1, IGF-1 and b-FGF at different time points for 38d...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28139974/the-lim-protein-complex-establishes-a-retinal-circuitry-of-visual-adaptation-by-regulating-pax6-%C3%AE-enhancer-activity
#5
Yeha Kim, Soyeon Lim, Taejeong Ha, You-Hyang Song, Young-In Sohn, Dae-Jin Park, Sun-Sook Paik, Joo-Ri Kim-Kaneyama, Mi-Ryoung Song, Amanda Leung, Edward M Levine, In-Beom Kim, Yong Sook Goo, Seung-Hee Lee, Kyung Hwa Kang, Jin Woo Kim
The visual responses of vertebrates are sensitive to the overall composition of retinal interneurons including amacrine cells, which tune the activity of the retinal circuitry. The expression of Paired-homeobox 6 (PAX6) is regulated by multiple cis-DNA elements including the intronic α-enhancer, which is active in GABAergic amacrine cell subsets. Here, we report that the transforming growth factor ß1-induced transcript 1 protein (Tgfb1i1) interacts with the LIM domain transcription factors Lhx3 and Isl1 to inhibit the α-enhancer in the post-natal mouse retina...
January 31, 2017: ELife
https://www.readbyqxmd.com/read/28137879/differentiation-of-human-telencephalic-progenitor-cells-into-msns-by-inducible-expression-of-gsx2-and-ebf1
#6
Andrea Faedo, Angela Laporta, Alice Segnali, Maura Galimberti, Dario Besusso, Elisabetta Cesana, Sara Belloli, Rosa Maria Moresco, Marta Tropiano, Elisa Fucà, Stefan Wild, Andreas Bosio, Alessandro E Vercelli, Gerardo Biella, Elena Cattaneo
Medium spiny neurons (MSNs) are a key population in the basal ganglia network, and their degeneration causes a severe neurodegenerative disorder, Huntington's disease. Understanding how ventral neuroepithelial progenitors differentiate into MSNs is critical for regenerative medicine to develop specific differentiation protocols using human pluripotent stem cells. Studies performed in murine models have identified some transcriptional determinants, including GS Homeobox 2 (Gsx2) and Early B-cell factor 1 (Ebf1)...
January 30, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28137510/influence-of-aldose-reductase-on-epithelial-to-mesenchymal-transition-signaling-in-lens-epithelial-cells
#7
Kun-Che Chang, Biehuoy Shieh, J Mark Petrash
Cataract is the most frequent cause of blindness worldwide and is treated by surgical removal of the opaque lens to restore the light path to the retina. While cataract surgery is a safe procedure, some patients develop a complication of the surgery involving opacification and wrinkling of the posterior lens capsule. This process, called posterior capsule opacification (PCO), requires a second clinical treatment that can in turn lead to additional complications. Prevention of PCO is a current unmet need in the vision care enterprise...
January 27, 2017: Chemico-biological Interactions
https://www.readbyqxmd.com/read/28125839/generation-of-functional-lentoid-bodies-from-human-induced-pluripotent-stem-cells-derived-from-urinary-cells
#8
Qiuli Fu, Zhenwei Qin, Xiuming Jin, Lifang Zhang, Zhijian Chen, Jiliang He, Junfeng Ji, Ke Yao
Purpose: The pathological mechanisms underlying cataract formation remain largely unknown on account of the lack of appropriate in vitro cellular models. The aim of this study is to develop a stable in vitro system for human lens regeneration using pluripotent stem cells. Methods: Isolated human urinary cells were infected with four Yamanaka factors to generate urinary human induced pluripotent stem cells (UiPSCs), which were induced to differentiate into lens progenitor cells and lentoid bodies (LBs)...
January 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28124845/identification-of-neuron-related-genes-for-cell-therapy-of-neurological-disorders-by-network-analysis
#9
Li-Ning Su, Xiao-Qing Song, Hui-Ping Wei, Hai-Feng Yin
Bone mesenchymal stem cells (BMSCs) differentiated into neurons have been widely proposed for use in cell therapy of many neurological disorders. It is therefore important to understand the molecular mechanisms underlying this differentiation. We screened differentially expressed genes between immature neural tissues and untreated BMSCs to identify the genes responsible for neuronal differentiation from BMSCs. GSE68243 gene microarray data of rat BMSCs and GSE18860 gene microarray data of rat neurons were received from the Gene Expression Omnibus database...
2017: Journal of Zhejiang University. Science. B
https://www.readbyqxmd.com/read/28112198/chlorpyrifos-inhibits-neural-induction-via-mfn1-mediated-mitochondrial-dysfunction-in-human-induced-pluripotent-stem-cells
#10
Shigeru Yamada, Yusuke Kubo, Daiju Yamazaki, Yuko Sekino, Yasunari Kanda
Organophosphates, such as chlorpyrifos (CPF), are widely used as insecticides in agriculture. CPF is known to induce cytotoxicity, including neurodevelopmental toxicity. However, the molecular mechanisms of CPF toxicity at early fetal stage have not been fully elucidated. In this study, we examined the mechanisms of CPF-induced cytotoxicity using human induced pluripotent stem cells (iPSCs). We found that exposure to CPF at micromolar levels decreased intracellular ATP levels. As CPF suppressed energy production that is a critical function of the mitochondria, we focused on the effects of CPF on mitochondrial dynamics...
January 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28101674/posterior-tail-development-in-the-salamander-eurycea-cirrigera-exploring-cellular-dynamics-across-life-stages
#11
Janet L Vaglia, Chet Fornari, Paula K Evans
During embryogenesis, the body axis elongates and specializes. In vertebrate groups such as salamanders and lizards, elongation of the posterior body axis (tail) continues throughout life. This phenomenon of post-embryonic tail elongation via addition of vertebrae has remained largely unexplored, and little is known about the underlying developmental mechanisms that promote vertebral addition. Our research investigated tail elongation across life stages in a non-model salamander species, Eurycea cirrigera (Plethodontidae)...
January 18, 2017: Development Genes and Evolution
https://www.readbyqxmd.com/read/28035389/role-of-mir-223-paired-box-6-signaling-in-temozolomide-chemoresistance-in-glioblastoma-multiforme-cells
#12
Quan Cheng, Xiaoqiang Ma, Hui Cao, Zigui Chen, Xin Wan, Rui Chen, Renjun Peng, Jun Huang, Bing Jiang
Glioblastoma (GBM) is the predominant and most fatal type of brain tumor in adults. The prognosis of GBM remains poor despite advances in surgery, chemotherapy and radiotherapy. It is common that patients with GBM exhibit innate or acquired resistance to temozolomide (TMZ), a standard chemotherapeutic agent for GBM, and a previous report demonstrated that miRNA‑233 (miR‑223) promotes the growth and invasion of GBM cells by targeting tumor suppressor paired box 6 (PAX6). The present study explored the effect of TMZ on miR‑223/PAX6 signaling in addition to the effect of miR‑223/PAX6 signaling on TMZ chemoresistance in human GBM cells...
February 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28018434/a-nonsense-pax6-mutation-in-a-family-with-congenital-aniridia
#13
Kyoung Hee Han, Hye Jin Lee, Il-Soo Ha, Hee Gyung Kang, Hae Il Cheong
Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6), which is an essential gene in eye development. Herein, we report a familial case of autosomal dominant congenital aniridia with four affected members in 3 consecutive generations and describe the detailed ophthalmologic findings for one of these members. As expected, mutational analysis revealed a nonsense mutation (p...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28005979/cloning-and-functional-analysis-of-pax6-from-the-hydrothermal-vent-tubeworm-ridgeia-piscesae
#14
Huifang Yuan, Wei Wang, Bin Hu, Changkun Pan, Mingliang Chen, Linlin Ke, Lirong Yang, Jianming Chen
The paired box 6 (Pax6) gene encodes a transcription factor essential for eye development in a wide range of animal lineages. Here we describe the cloning and characterization of Pax6 gene from the blind hydrothermal vent tubeworm Ridgeia piscesae (RpPax6). The deduced RpPax6 protein shares extensive sequence identity with Pax6 proteins from other species and contains both the paired domain and a complete homeodomain. Phylogenetic analysis indicates that it clusters with the corresponding sequence from the closely related species Platynereis dumerilii (P...
2016: PloS One
https://www.readbyqxmd.com/read/28002562/generation-of-human-corneal-endothelial-cells-via-in-vitro-ocular-lineage-restriction-of-pluripotent-stem-cells
#15
Jiagang J Zhao, Natalie A Afshari
Purpose: We generate a renewable supply of corneal endothelial cells (CEC) from human pluripotent stem cells (PSCs) under defined culture conditions. Methods: Corneal endothelial cell induction was driven by small molecules in a stepwise fashion of lineage specification. During the initial phase, PSC fate was restricted to the eye field-like state and became eye field stem cells (EFSCs). In the second phase, PSC-derived EFSCs were further directed toward either neural crest lineage or retinal lineage...
December 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27974186/classical-and-non-classical-causes-of-gh-deficiency-in-the-paediatric-age
#16
REVIEW
Natascia Di Iorgi, Giovanni Morana, Anna Elsa Maria Allegri, Flavia Napoli, Roberto Gastaldi, Annalisa Calcagno, Giuseppa Patti, Sandro Loche, Mohamad Maghnie
Growth hormone deficiency (GHD) may result from a failure of hypothalamic GHRH production or release, from congenital disorders of pituitary development, or from central nervous system insults including tumors, surgery, trauma, radiation or infiltration from inflammatory diseases. Idiopathic, isolated GHD is the most common sporadic form of hypopituitarism. GHD may also occur in combination with other pituitary hormone deficiencies, and is often referred to as hypopituitarism, combined pituitary hormone deficiency (CPHD), multiple pituitary hormone deficiency (MPHD) or panhypopituitarism...
December 2016: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27967600/dna-methylation-is-an-independent-prognostic-marker-of-survival-in-adrenocortical-cancer
#17
Anne Jouinot, Guillaume Assie, Rossella Libe, Martin Fassnacht, Thomas Papathomas, Olivia Barreau, Bruno DE LA Villeon, Simon Faillot, Nadim Hamzaoui, Mario Neou, Karine Perlemoine, Fernande Rene-Corail, Stéphanie Rodriguez, Mathilde Sibony, Frédérique Tissier, Bertrand Dousset, Silviu Sbiera, Cristina Ronchi, Matthias Kroiss, Esther Korpershoek, Ronald DE Krijger, Jens Waldmann, Detlef K Bartsch, Marcus Quinkler, Magalie Haissaguerre, Antoine Tabarin, Olivier Chabre, Nathalie Sturm, Michaela Luconi, Franco Mantero, Massimo Mannelli, Regis Cohen, Véronique Kerlan, Philippe Touraine, Gaelle Barrande, Lionel Groussin, Xavier Bertagna, Eric Baudin, Laurence Amar, Felix Beuschlein, Eric Clauser, Joel Coste, Jérôme Bertherat
CONTEXT: Adrenocortical cancer (ACC) is an aggressive tumor with heterogeneous outcome. Prognostic stratification is difficult even based on tumor stage and Ki67 index. Recently integrated genomics studies have demonstrated that CpG islands hypermethylation is correlated with poor survival. OBJECTIVE: To confirm the prognostic value of CpG islands methylation on an independent cohort with a single commonly available methylation assay. DESIGN: CpG islands methylation was measured by methylation-specific-multiplex-ligation-dependent-probe-amplification (MS-MLPA) using the ME002 kit (MRC-Holland)...
December 14, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27956168/introduction-of-novel-splice-variants-for-casc18-gene-and-its-relation-to-the-neural-differentiation
#18
Majid Mehravar, Meisam Jafarzadeh, Maryam Kay, Hadi Najafi, Fahimeh Hosseini, Seyed Javad Mowla, Bahram M Soltani
BACKGROUND: CASC18 along with APPL2, OCC-1 and NUAK1 flanking genes are located in 12q23.3 locus which is known as a potential cancer predisposition locus. Only an uncharacterized EST was initially reported for CASC18 and it was crucial to find its full length sequence and function. METHODS AND RESULTS: In an attempt to search for the CASC18's full-length gene sequence, other related ESTs were bioinformatically collected and four novel splice variants (designated as; CASC18-A, -B, -C and -D) were deduced and some were experimentally validated...
March 1, 2017: Gene
https://www.readbyqxmd.com/read/27955690/chd7-promotes-proliferation-of-neural-stem-cells-mediated-by-mif
#19
Shigeki Ohta, Tomonori Yaguchi, Hironobu Okuno, Hervé Chneiweiss, Yutaka Kawakami, Hideyuki Okano
Macrophage migration inhibitory factor (MIF) plays an important role in supporting the proliferation and/or survival of murine neural stem/progenitor cells (NSPCs); however, the downstream effectors of this factor remain unknown. Here, we show that MIF increases the expression of Pax6 and Chd7 in NSPCs in vitro. During neural development, the chromatin remodeling factor Chd7 (chromatin helicase-DNA-binding protein 7) is expressed in the ventricular zone of the telencephalon of mouse brain at embryonic day 14...
December 13, 2016: Molecular Brain
https://www.readbyqxmd.com/read/27943290/isolation-characterization-and-establishment-of-spontaneously-immortalized-cell-line-hrpe-2s-with-stem-cell-properties
#20
Hoda Shams Najafabadi, Zahra-Soheila Soheili, Shahram Samiei, Hamid Ahmadieh, Ehsan Ranaei Pirmardan, Maryam Masoomi
The retinal pigment epithelium is a monolayer of highly specialized pigmented cells located between the neural retina and the Bruch's membrane of the choroid. RPE cells play a crucial role in the maintenance and function of the underlying photoreceptors. This study introduces a spontaneously arising human retinal pigment epithelial cell line, HRPE-2S, which was isolated from primary RPE cell culture of 2 days old male donor. We characterized morphology and functional properties of the new cell line. The immortalized cell line was maintained in culture for more than 70 passages and 240 divisions...
December 12, 2016: Journal of Cellular Physiology
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