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https://www.readbyqxmd.com/read/28101674/posterior-tail-development-in-the-salamander-eurycea-cirrigera-exploring-cellular-dynamics-across-life-stages
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/27941244/%C3%AE-cells-led-astray-by-transcription-factors-and-the-company-they-keep
#11
Peter Thompson, Anil Bhushan
Pancreatic β cells have one of the highest protein secretion burdens in the body, as these cells must synthesize and secrete insulin in proportion to postprandial rises in blood glucose. Remarkably, it is now becoming clear that adult β cells retain plasticity and can dedifferentiate into embryonic fates or adopt alternate islet endocrine cell identities. This property is especially important, because changes in cell fate alter β cell function and could form the basis for defects in insulin secretion that occur early in the pathogenesis of the most prevalent form of β cell dysfunction, type 2 diabetes...
January 3, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27941241/pax6-maintains-%C3%AE-cell-identity-by-repressing-genes-of-alternative-islet-cell-types
#12
Avital Swisa, Dana Avrahami, Noa Eden, Jia Zhang, Eseye Feleke, Tehila Dahan, Yamit Cohen-Tayar, Miri Stolovich-Rain, Klaus H Kaestner, Benjamin Glaser, Ruth Ashery-Padan, Yuval Dor
Type 2 diabetes is thought to involve a compromised β cell differentiation state, but the mechanisms underlying this dysfunction remain unclear. Here, we report a key role for the TF PAX6 in the maintenance of adult β cell identity and function. PAX6 was downregulated in β cells of diabetic db/db mice and in WT mice treated with an insulin receptor antagonist, revealing metabolic control of expression. Deletion of Pax6 in β cells of adult mice led to lethal hyperglycemia and ketosis that were attributed to loss of β cell function and expansion of α cells...
January 3, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27932958/the-shark-alar-hypothalamus-molecular-characterization-of-prosomeric-subdivisions-and-evolutionary-trends
#13
Gabriel N Santos-Durán, Susana Ferreiro-Galve, Arnaud Menuet, Idoia Quintana-Urzainqui, Sylvie Mazan, Isabel Rodríguez-Moldes, Eva Candal
The hypothalamus is an important physiologic center of the vertebrate brain involved in the elaboration of individual and species survival responses. To better understand the ancestral organization of the alar hypothalamus we revisit previous data on ScOtp, ScDlx2/5, ScTbr1, ScNkx2.1 expression and Pax6 immunoreactivity jointly with new data on ScNeurog2, ScLhx9, ScLhx5, and ScNkx2.8 expression, in addition to immunoreactivity to serotonin (5-HT) and doublecortin (DCX) in the catshark Scyliorhinus canicula, a key species for this purpose since cartilaginous fishes are basal representatives of gnathostomes (jawed vertebrates)...
2016: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/27919838/a-cgh-array-procedure-to-detect-pax6-gene-structural-defects
#14
Alessandra Franzoni, Patrizia Dello Russo, Federica Baldan, Angela Valentina D'Elia, Cinzia Puppin, Silvana Penco, Giuseppe Damante
Aniridia is a rare congenital disease characterized by eye development defects, in which the more evident clinical manifestation is iris absence or malformation. In most of the patients, aniridia is associated to PAX6 gene point mutations or deletions. When these deletions are large and involve other genes, a more complex disease, named WAGR syndrome, arises. In order to develop a new tool to analyze aniridia and WAGR subjects, a CGH array (CGHa) of the PAX6 genomic region was set up. We generated a custom microarray kit using an oligonucleotide-based platform that allows high resolution molecular profiling of genomic aberrations in 20 Mb of the 11p13 chromosomal region, centered on the PAX6 gene...
December 2, 2016: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/27918583/the-gene-regulatory-network-of-lens-induction-is-wired-through-meis-dependent-shadow-enhancers-of-pax6
#15
Barbora Antosova, Jana Smolikova, Lucie Klimova, Jitka Lachova, Michaela Bendova, Iryna Kozmikova, Ondrej Machon, Zbynek Kozmik
Lens induction is a classical developmental model allowing investigation of cell specification, spatiotemporal control of gene expression, as well as how transcription factors are integrated into highly complex gene regulatory networks (GRNs). Pax6 represents a key node in the gene regulatory network governing mammalian lens induction. Meis1 and Meis2 homeoproteins are considered as essential upstream regulators of Pax6 during lens morphogenesis based on their interaction with the ectoderm enhancer (EE) located upstream of Pax6 transcription start site...
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27905023/distinct-cortical-and-sub-cortical-neurogenic-domains-for-gabaergic-interneuron-precursor-transcription-factors-nkx2-1-olig2-and-coup-tfii-in-early-fetal-human-telencephalon
#16
Ayman Alzu'bi, Susan Lindsay, Janet Kerwin, Shi Jie Looi, Fareha Khalil, Gavin J Clowry
The extent of similarities and differences between cortical GABAergic interneuron generation in rodent and primate telencephalon remains contentious. We examined expression of three interneuron precursor transcription factors, alongside other markers, using immunohistochemistry on 8-12 post-conceptional weeks (PCW) human telencephalon sections. NKX2.1, OLIG2, and COUP-TFII expression occupied distinct (although overlapping) neurogenic domains which extended into the cortex and revealed three CGE compartments: lateral, medial, and ventral...
November 30, 2016: Brain Structure & Function
https://www.readbyqxmd.com/read/27895556/neurosensory-differentiation-and-innervation-patterning-in-the-human-fetal-vestibular-end-organs-between-the-gestational-weeks-8-12
#17
Lejo Johnson Chacko, Elisabeth J Pechriggl, Helga Fritsch, Helge Rask-Andersen, Michael J F Blumer, Anneliese Schrott-Fischer, Rudolf Glueckert
Balance orientation depends on the precise operation of the vestibular end organs and the vestibular ganglion neurons. Previous research on the assemblage of the neuronal network in the developing fetal vestibular organ has been limited to data from animal models. Insights into the molecular expression profiles and signaling moieties involved in embryological development of the human fetal inner ear have been limited. We present an investigation of the cells of the vestibular end organs with specific focus on the hair cell differentiation and innervation pattern using an uninterrupted series of unique specimens from gestational weeks 8-12...
2016: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/27887593/expression-of-barhl2-and-its-relationship-with-pax6-expression-in-the-forebrain-of-the-mouse-embryo
#18
Elisa V Parish, John O Mason, David J Price
BACKGROUND: The transcription factor Barhl2 is an antiproneural transcription factor with roles in neuronal differentiation. The functions of its homologue in Drosophila development are better understood than its functions in mammalian brain development. Existing evidence suggests that its expression in the embryonic forebrain of the mouse is regional and may complement that of another transcription factor that is important for forebrain development, Pax6. The aim of this study is to provide a more detailed description of the Barhl2 expression pattern in the embryonic forebrain than is currently available, to relate its expression domains to those of Pax6 and to examine the effects of Pax6 loss on Barhl2 expression...
November 25, 2016: BMC Neuroscience
https://www.readbyqxmd.com/read/27879339/mct8-deficiency-in-purkinje-cells-disrupts-embryonic-chicken-cerebellar-development
#19
Joke Delbaere, Pieter Vancamp, Stijn L J Van Herck, Nele M A Bourgeois, Mary J Green, Richard J T Wingate, Veerle M Darras
Inactivating mutations in the human SLC16A2 gene encoding the thyroid hormone transporter monocarboxylate transporter 8 (MCT8) result in the Allan-Herndon-Dudley syndrome accompanied by severe locomotor deficits. The underlying mechanisms of the associated cerebellar maldevelopment were studied using the chicken as a model. Electroporation of an MCT8-RNAi vector into the cerebellar anlage of a 3-day-old embryo allowed knockdown of MCT8 in Purkinje cell precursors. This resulted in the downregulation of the thyroid hormone-responsive gene RORα and the Purkinje cell-specific differentiation marker LHX1/5 at day 6...
February 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/27871855/histone-deacetylase-1-hdac1-regulates-retinal-development-through-a-pax6-dependent-pathway
#20
Chul-Hong Kim, Mi-Jin An, Dae-Hyun Kim, Jung-Woong Kim
Cell fate determination is tightly controlled by the expression of transcription factors and gene regulatory networks. PAX6 is a transcription factor containing a DNA-binding paired-box domain and homeobox domain that plays a key role in the development of the eye, brain, and pancreas. Here, we showed that histone deacetyltransferase 1 (HDAC1) is a novel binding partner of PAX6 in newborn mouse retinas. We also showed that HDAC1 specifically binds to the paired and transactivation domains of PAX6, and these physical interactions were required for effective repression of PAX6 transcriptional activity during retinal development...
January 22, 2017: Biochemical and Biophysical Research Communications
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