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https://www.readbyqxmd.com/read/29318501/function-of-fezf1-during-early-neural-differentiation-of-human-embryonic-stem-cells
#1
Xin Liu, Pei Su, Lisha Lu, Zicen Feng, Hongtao Wang, Jiaxi Zhou
The understanding of the mechanism underlying human neural development has been hampered due to lack of a cellular system and complicated ethical issues. Human embryonic stem cells (hESCs) provide an invaluable model for dissecting human development because of unlimited self-renewal and the capacity to differentiate into nearly all cell types in the human body. In this study, using a chemical defined neural induction protocol and molecular profiling, we identified Fez family zinc finger 1 (FEZF1) as a potential regulator of early human neural development...
January 2, 2018: Science China. Life Sciences
https://www.readbyqxmd.com/read/29317485/meis1-coordinates-cerebellar-granule-cell-development-by-regulating-pax6-transcription-bmp-signaling-and-atoh1-degradation
#2
Tomoo Owa, Shinichiro Taya, Satoshi Miyashita, Mariko Yamashita, Toma Adachi, Koyo Yamada, Miwa Yokoyama, Shogo Aida, Tomoki Nishioka, Yukiko U Inoue, Ryo Goitsuka, Takuro Nakamura, Takayoshi Inoue, Kozo Kaibuchi, Mikio Hoshino
Cerebellar granule cell precursors (GCPs) and granule cells (GCs) represent good models to study neuronal development. Here we report that the transcription factor, Meis1, plays pivotal roles to regulate mouse GC development. We found that Meis1 is expressed in granule cell lineage cells and astrocytes in the cerebellum during development. Targeted disruption of the Meis1 gene specifically in the GC lineage resulted in smaller cerebella with disorganized lobules. Knockdown/knockout experiments for Meis1 as well as in vitro assays show that Meis1 binds to an upstream sequence of Pax6 to enhance its transcription in GCPs/GCs and further suggested that the Meis1-Pax6 cascade regulates morphology of GCPs/GCs during development...
January 9, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29260054/the-superficial-and-deep-retinal-capillary-plexus-in-cases-of-fovea-plana-imaged-by-spectral-domain-optical-coherence-tomography-angiography
#3
Georgia Kaidonis, Ruwan A Silva, Steven R Sanislo, Theodore Leng
Purpose: To describe the appearance of the superficial and deep retinal capillary plexi in three patients with fovea plana of differing severity using spectral-domain optical coherence tomography angiography (OCTA). Observations: In the first case of grade 1 fovea plana (a patient with 20/25 vision), OCTA showed an orderly branching pattern of vessels from the superficial and deep retinal plexi extending to the center of the fovea. The second case of grade 3 fovea plana (20/30 vision) showed some disruption of the orderly vascular pattern with small caliber vessels from both superficial and deep layers densely covering the fovea center...
June 2017: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29238604/novel-pax6-mutation-reported-in-an-aniridia-patient
#4
Andrew Winegarner, Yoshinori Oie, Satoshi Kawasaki, Nozomi Nishida, Kohji Nishida
An aniridia patient was found to have a novel PAX6 mutation. A genetic duplication within PAX6, which caused a frameshift mutation, ultimately created a nonsense stop codon and premature truncation of the protein. Consequently, the patient presented with a clouded cornea as a result of partial limbal stem cell deficiency, foveal hypoplasia, nystagmus and a pale, cupped optic disc caused by glaucoma.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/29217025/correlation-of-novel-pax6-gene-abnormalities-in-aniridia-and-clinical-presentation
#5
Naif S Sannan, Cheryl Y Gregory-Evans, Christopher J Lyons, Anna M Lehman, Sylvie Langlois, Simon J Warner, Helen Zakrzewski, Kevin Gregory-Evans
OBJECTIVE: To describe the clinical presentation and genotype of subjects with aniridia with a particular focus on foveal hypoplasia. DESIGN: Prospective cohort study. PARTICIPANTS: Thirty-three Canadian participants with aniridia and of various ethnic backgrounds residing in British Columbia. METHODS: Full ophthalmic examinations and posterior segment spectral domain-optical coherence tomography (SD-OCT) imaging were performed...
December 2017: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://www.readbyqxmd.com/read/29208552/controlling-human-corneal-stromal-stem-cell-contraction-to-mediate-rapid-cell-and-matrix-organization-of-real-architecture-for-3-dimensional-tissue-equivalents
#6
Dev Mukhey, James Phillips, Julie T Daniels, Alvena K Kureshi
The architecture of the human corneal stroma consists of a highly organized extracellular matrix (ECM) interspersed with keratocytes. Their progenitor cells; corneal stromal stem cells (CSSC) are located at the periphery, in the limbal stroma. A highly organized corneal ECM is critical for effective transmission of light but this structure may be compromised during injury or disease, resulting in loss of vision. Re-creating normal organization in engineered tissue equivalents for transplantation often involves lengthy culture times that are inappropriate for clinical use or utilisation of synthetic substrates that bring complications such as corneal melting...
December 2, 2017: Acta Biomaterialia
https://www.readbyqxmd.com/read/29205612/homeodomain-interacting-protein-kinase-phosphorylates-the-drosophila-paired-box-protein-6-pax6-homologues-twin-of-eyeless-and-eyeless
#7
E L Steinmetz, D N Dewald, U Walldorf
Homeodomain-interacting protein kinase (Hipk), the Drosophila homologue of mammalian HIPK2, plays several important roles in regulating differentiation, proliferation, apoptosis, and stress responses and acts as a mediator for signals of diverse pathways, such as Notch or Wingless signalling. The Paired box protein 6 (Pax6) has two Drosophila homologues, Twin of eyeless (Toy) and Eyeless (Ey). Both stand atop the retinal determination gene network (RDGN), which is essential for proper eye development in Drosophila...
December 4, 2017: Insect Molecular Biology
https://www.readbyqxmd.com/read/29203910/tet-proteins-safeguard-bivalent-promoters-from-de-novo-methylation-in-human-embryonic-stem-cells
#8
Nipun Verma, Heng Pan, Louis C Doré, Abhijit Shukla, Qing V Li, Bobbie Pelham-Webb, Virginia Teijeiro, Federico González, Andrei Krivtsov, Chan-Jung Chang, Eirini P Papapetrou, Chuan He, Olivier Elemento, Danwei Huangfu
TET enzymes oxidize 5-methylcytosine (5mC) to 5-hydroxymethylcytosine (5hmC), which can lead to DNA demethylation. However, direct connections between TET-mediated DNA demethylation and transcriptional output are difficult to establish owing to challenges in distinguishing global versus locus-specific effects. Here we show that TET1, TET2 and TET3 triple-knockout (TKO) human embryonic stem cells (hESCs) exhibit prominent bivalent promoter hypermethylation without an overall corresponding decrease in gene expression in the undifferentiated state...
January 2018: Nature Genetics
https://www.readbyqxmd.com/read/29202485/selenite-restores-pax6-expression-in-neuronal-cells-of-chronically-arsenic-exposed-golden-syrian-hamsters
#9
Alain Aguirre-Vázquez, Adriana Sampayo-Reyes, Laura González-Escalante, Alba Hernández, Ricard Marcos, Fabiola Castorena-Torres, Gerardo Lozano-Garza, Reyes Taméz-Guerra, Mario Bermúdez de León
Arsenic is a worldwide environmental pollutant that generates public health concerns. Various types of cancers and other diseases, including neurological disorders, have been associated with human consumption of arsenic in drinking water. At the molecular level, arsenic and its metabolites have the capacity to provoke genome instability, causing altered expression of genes. One such target of arsenic is the Pax6 gene that encodes a transcription factor in neuronal cells. The aim of this study was to evaluate the effect of two antioxidants, α-tocopheryl succinate (α-TOS) and sodium selenite, on Pax6 gene expression levels in the forebrain and cerebellum of Golden Syrian hamsters chronically exposed to arsenic in drinking water...
December 5, 2017: Acta Biochimica Polonica
https://www.readbyqxmd.com/read/29193451/retinoic-acid-signaling-regulates-the-proliferative-and-neurogenic-capacity-of-m%C3%A3-ller-glia-derived-progenitor-cells-in-the-avian-retina
#10
Levi Todd, Lilianna Suarez, Colin Quinn, Andy J Fischer
In the retina, Müller glia have the potential to become progenitor cells with the ability to proliferate and regenerate neurons. However, the ability of Müller glia-derived progenitor cells (MGPCs) to proliferate and produce neurons is limited in higher vertebrates. Using the chick model system, we investigate how retinoic acid (RA)-signaling influences the proliferation and the formation of MGPCs. We observed an upregulation of cellular RA binding proteins (CRABP) in the Müller glia of damaged retinas where the formation of MGPCs is known to occur...
November 27, 2017: Stem Cells
https://www.readbyqxmd.com/read/29178648/panel-based-whole-exome-sequencing-identifies-novel-mutations-in-microphthalmia-and-anophthalmia-patients-showing-complex-mendelian-inheritance-patterns
#11
Marina Riera, Ana Wert, Isabel Nieto, Esther Pomares
BACKGROUND: Microphthalmia and anophthalmia (MA) are congenital eye abnormalities that show an extremely high clinical and genetic complexity. In this study, we evaluated the implementation of whole exome sequencing (WES) for the genetic analysis of MA patients. This approach was used to investigate three unrelated families in which previous single-gene analyses failed to identify the molecular cause. METHODS: A total of 47 genes previously associated with nonsyndromic MA were included in our panel...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29163067/the-baf45d-protein-is-preferentially-expressed-in-adult-neurogenic-zones-and-in-neurons-and-may-be-required-for-retinoid-acid-induced-pax6-expression
#12
Chao Liu, Ruyu Sun, Jian Huang, Dijuan Zhang, Dake Huang, Weiqin Qi, Shenghua Wang, Fenfen Xie, Yuxian Shen, Cailiang Shen
Adult neurogenesis is important for the development of regenerative therapies for human diseases of the central nervous system (CNS) through the recruitment of adult neural stem cells (NSCs). NSCs are characterized by the capacity to generate neurons, astrocytes, and oligodendrocytes. To identify key factors involved in manipulating the adult NSC neurogenic fate thus has crucial implications for the clinical application. Here, we report that BAF45D is expressed in the subgranular zone (SGZ) of the dentate gyrus, the subventricular zone (SVZ) of the lateral ventricle, and the central canal (CC) of the adult spinal cord...
2017: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/29163026/generation-of-urine-cell-derived-non-integrative-human-ipscs-and-inscs-a-step-by-step-optimized-protocol
#13
Lin Cheng, Qiannan Lei, Chen Yin, Hui-Yun Wang, Kangxin Jin, Mengqing Xiang
Objective: Establishing a practical procedure to generate induced pluripotent stem cells (iPSCs) and induced neural stem cells (iNSCs) from human urine cells (UCs). In this report, we optimized a non-integrative protocol to generate patient-specific iPSC and iNSC lines with high reprogramming efficiency. Methods: UCs were electroporated with the pEP4-EO2S-ET2K and pEP4-M2L plasmids containing the OCT4, SOX2, KLF4, SV40LT, c-MYC, and LIN28 genes, and then cultured with N2B27 medium plus four small molecule compounds (A83-01, PD0325901, Thiazovivin, and CHIR99021)...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29162348/human-aniridia-limbal-epithelial-cells-lack-expression-of-keratins-k3-and-k12
#14
Lorenz Latta, Arne Viestenz, Tanja Stachon, Sarah Colanesi, Nóra Szentmáry, Berthold Seitz, Barbara Käsmann-Kellner
Patients with aniridia often develop aniridia-related keratopathy (ARK), due to limbal stem cell insufficiency. This study aimed to determine the proliferative capacity and differentiation status of limbal epithelial cells (LECs) in patients with ARK. We also investigated the influences of PAX6 genotype on PAX6-transcript and protein level. Here two patients with aniridia underwent keratoplasty were examined. During the surgery, small limbal biopsies and pannus tissue were excised and processed for cell culture...
November 18, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/29161152/proliferative-cells-isolated-from-the-adult-human-peripheral-retina-only-transiently-upregulate-key-retinal-markers-upon-induced-differentiation
#15
Erik O Johnsen, Rebecca C Frøen, Ole Kristoffer Olstad, Bjørn Nicolaissen, Goran Petrovski, Morten C Moe, Agate Noer
Purpose/Aim: The adult human retina has limited regenerative potential, and severe injury will result in permanent damage. Lower vertebrates handle retinal injury by activating neural stem cells (NSCs) in the ciliary marginal zone (CMZ). Müller glia-like cells expressing markers of NSCs are also present in the peripheral retina (PR) of the adult human eye, leading to the hypothesis that a CMZ-like zone might exists also in humans. In order to shed further light on this hypothesis we investigated the in vitro differentiation potential of proliferative cells isolated from the adult human PR towards a retinal phenotype...
November 21, 2017: Current Eye Research
https://www.readbyqxmd.com/read/29160172/neural-differentiation-of-spheroids-derived-from-hipsc-msc-co-culture
#16
Liqing Song, Ang-Chen Tsai, Xuegang Yuan, Julie Bejoy, Sébastien Sart, Teng Ma, Yan Li
Organoids, the condensed 3-D tissues emerged at the early stage of organogenesis, are a promising approach to regenerate functional and vascularized organ mimics. While incorporation of heterotypic cell types such as human mesenchymal stem cells (hMSCs) and human induced pluripotent stem cells (hiPSCs) derived neural progenitors aid neural organ development, the interactions of secreted factors during neurogenesis have not been well understood. The objective of this study is to investigate the impact of the composition and structure of 3-D hybrid spheroids of hiPSCs and hMSCs on dorsal cortical differentiation and the secretion of extracellular matrices and trophic factors in vitro...
November 21, 2017: Tissue Engineering. Part A
https://www.readbyqxmd.com/read/29149196/easy-xeno-free-and-feeder-free-method-for-isolating-and-growing-limbal-stromal-and-epithelial-stem-cells-of-the-human-cornea
#17
Djida Ghoubay-Benallaoua, Céline de Sousa, Raphaël Martos, Gaël Latour, Marie-Claire Schanne-Klein, Elisabeth Dupin, Vincent Borderie
Epithelial and stromal stem cells are required to maintain corneal transparency. The aim of the study was to develop a new method to isolate and grow both corneal stromal (SSC) and epithelial limbal (LSC) stem cells from small human limbal biopsies under culture conditions in accordance with safety requirements mandatory for clinical use in humans. Superficial limbal explants were retrieved from human donor corneo-scleral rims. Human limbal cells were dissociated by digestion with collagenase A, either after epithelial scraping or with no scraping...
2017: PloS One
https://www.readbyqxmd.com/read/29147115/effects-of-aminoglycoside-antibiotics-on-human-embryonic-stem-cell-viability-during-differentiation-in-vitro
#18
Divya S Varghese, Shama Parween, Mustafa T Ardah, Bright Starling Emerald, Suraiya A Ansari
Human embryonic stem cells (hESCs) are being used extensively in array of studies to understand different mechanisms such as early human embryogenesis, drug toxicity testing, disease modeling, and cell replacement therapy. The protocols for the directed differentiation of hESCs towards specific cell types often require long-term cell cultures. To avoid bacterial contamination, these protocols include addition of antibiotics such as pen-strep and gentamicin. Although aminoglycosides, streptomycin, and gentamicin have been shown to cause cytotoxicity in various animal models, the effect of these antibiotics on hESCs is not clear...
2017: Stem Cells International
https://www.readbyqxmd.com/read/29145603/accuracy-of-next-generation-sequencing-for-molecular-diagnosis-in-patients-with-infantile-nystagmus-syndrome
#19
John Hoon Rim, Seung-Tae Lee, Heon Yung Gee, Byung Joo Lee, Jong Rak Choi, Hye Won Park, Sueng-Han Han, Jinu Han
Importance: Infantile nystagmus syndrome (INS) is a group of disorders presenting with genetic and clinical heterogeneities that have challenged the genetic and clinical diagnoses of INS. Precise molecular diagnosis in early infancy may result in more accurate genetic counseling and improved patient management. Objective: To assess the accuracy of genomic data from next-generation sequencing (NGS) and phenotypic data to enhance the definitive diagnosis of INS. Design, Setting, and Participants: A single-center retrospective case series was conducted in 48 unrelated, consecutive patients with INS, with or without associated ocular or systemic conditions, who underwent genetic testing between June 1, 2015, and January 31, 2017...
November 16, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/29141824/inhibition-of-neurogenesis-in-a-case-of-marburg-variant-multiple-sclerosis
#20
Celia Oreja-Guevara, Ulises Gómez-Pinedo, Julia García-López, Rafael Sánchez-Sánchez, Roberto Valverde-Moyano, Alberto Rabano-Gutierrez, Jordi A Matías-Guiu, Ines González-Suárez, Jorge Matías-Guiu
INTRODUCTION: Neural stem cells (NSC) are located essentially in the subventricular zone (SVZ), subgranular zone (SGZ), and along the central canal of the spinal cord. These cells can proliferate in vitro and differentiate into neurons, oligodendrocytes, and astroglia, thus contributing to repair in multiple sclerosis (MS). We conducted a pathological study to analyse neurogenic response in a patient with Marburg variant MS. METHODS: We present the case of a 27-year-old immunocompetent patient with Marburg variant MS, a fulminant form of the disease...
November 2017: Multiple Sclerosis and related Disorders
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