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[PMID]:29202485
[Au] Autor:Aguirre-Vázquez A; Sampayo-Reyes A; González-Escalante L; Hernández A; Marcos R; Castorena-Torres F; Lozano-Garza G; Taméz-Guerra R; de León MB
[Ad] Endereço:Universidad Autónoma de Nuevo León, UANL, Fac. De Biología, San Nicolás delos Garza, Nuevo León, Mexico.
[Ti] Título:Selenite restores Pax6 expression in neuronal cells of chronically arsenic-exposed Golden Syrian hamsters.
[So] Source:Acta Biochim Pol;64(4):635-639, 2017.
[Is] ISSN:1734-154X
[Cp] País de publicação:Poland
[La] Idioma:eng
[Ab] Resumo: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. Animals were divided into six groups. Using quantitative real-time reverse transcriptase (RT)-PCR analysis, we confirmed that arsenic downregulates Pax6 expression in nervous tissues by 53 ± 21% and 32 ± 7% in the forebrain and cerebellum, respectively. In the presence of arsenic, treatment with α-TOS did not modify Pax6 expression in nervous tissues; however, sodium selenite completely restored Pax6 expression in the arsenic-exposed hamster forebrain, but not the cerebellum. Although our results suggest the use of selenite to restore the expression of a neuronal gene in arsenic-exposed animals, its use and efficacy in the human population require further studies.
[Mh] Termos MeSH primário: Arsênico/toxicidade
Neurônios/efeitos dos fármacos
Fator de Transcrição PAX6/genética
Selenito de Sódio/farmacologia
[Mh] Termos MeSH secundário: Animais
Antioxidantes/farmacologia
Cerebelo/efeitos dos fármacos
Cerebelo/metabolismo
Regulação da Expressão Gênica/efeitos dos fármacos
Masculino
Mesocricetus
Neurônios/metabolismo
Neurônios/patologia
Prosencéfalo/efeitos dos fármacos
Prosencéfalo/metabolismo
Testes de Toxicidade Crônica
alfa-Tocoferol/farmacologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antioxidants); 0 (PAX6 Transcription Factor); H4N855PNZ1 (alpha-Tocopherol); HIW548RQ3W (Sodium Selenite); N712M78A8G (Arsenic)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180223
[Lr] Data última revisão:
180223
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171205
[St] Status:MEDLINE
[do] DOI:10.18388/abp.2017_1607


  2 / 1708 MEDLINE  
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[PMID]:29178648
[Au] Autor:Riera M; Wert A; Nieto I; Pomares E
[Ad] Endereço:Departament de Genètica, Institut de Microcirurgia Ocular (IMO), Barcelona, Spain.
[Ti] Título:Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.
[So] Source:Mol Genet Genomic Med;5(6):709-719, 2017 11.
[Is] ISSN:2324-9269
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo: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. WES was performed in one affected patient from each family using the AmpliSeq Exome technology and the Ion Proton platform. RESULTS: A novel heterozygous OTX2 missense mutation was identified in a patient showing bilateral anophthalmia who inherited the variant from a parent who was a carrier, but showed no sign of the condition. We also describe a new PAX6 missense variant in an autosomal-dominant pedigree affected by mild bilateral microphthalmia showing high intrafamiliar variability, with germline mosaicism determined to be the most plausible molecular cause of the disease. Finally, a heterozygous missense mutation in RBP4 was found to be responsible in an isolated case of bilateral complex microphthalmia. CONCLUSION: This study highlights that panel-based WES is a reliable and effective strategy for the genetic diagnosis of MA. Furthermore, using this technique, the mutational spectrum of these diseases was broadened, with novel variants identified in each of the OTX2, PAX6, and RBP4 genes. Moreover, we report new cases of reduced penetrance, mosaicism, and variable phenotypic expressivity associated with MA, further demonstrating the heterogeneity of such disorders.
[Mh] Termos MeSH primário: Anoftalmia/genética
Microftalmia/genética
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Animais
Anoftalmia/diagnóstico
Sequência de Bases
Análise Mutacional de DNA
Heterozigoto
Seres Humanos
Padrões de Herança
Microftalmia/diagnóstico
Mosaicismo
Mutação de Sentido Incorreto
Fatores de Transcrição Otx/genética
Fator de Transcrição PAX6/genética
Linhagem
Polimorfismo de Nucleotídeo Único
Proteínas Plasmáticas de Ligação ao Retinol/genética
Alinhamento de Sequência
Sequenciamento Completo do Exoma
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (OTX2 protein, human); 0 (Otx Transcription Factors); 0 (PAX6 Transcription Factor); 0 (PAX6 protein, human); 0 (RBP4 protein, human); 0 (Retinol-Binding Proteins, Plasma)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180207
[Lr] Data última revisão:
180207
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171128
[St] Status:MEDLINE
[do] DOI:10.1002/mgg3.329


  3 / 1708 MEDLINE  
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[PMID]:29345189
[Au] Autor:Meng Q; Dai M; Nie X; Zhang W; Xu X; Li J; Mu H; Liu X; Qin L; Zhu X; Yan J; Zheng M
[Ad] Endereço:1 Orthopedics Department, Yancheng City No. 1 People's Hospital, Yancheng, P.R. China.
[Ti] Título:MicroRNA-19 contributes to the malignant phenotypes of osteosarcoma in vitro by targeting Pax6.
[So] Source:Tumour Biol;40(1):1010428317744704, 2018 Jan.
[Is] ISSN:1423-0380
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:This study was conducted to detect the expression of miR-19 and Pax6 (Paired box protein 6) in human osteosarcoma cells and the effects on biological characteristics of osteosarcoma cells. Quantitative real-time polymerase chain reaction was used to detect the expression of Pax6 and miR-19 in normal human osteoblasts (hFOB 1.19) and osteosarcoma cell lines (U2OS, Saos-2, and MG-63). Results showed that miR-19 was significantly upregulated in osteosarcoma cell lines compared with that in hFOB 1.19 cells, while the expression of Pax6 messenger RNA was significantly downregulated. Pax6 was defined as the target gene of miR-19 which was validated by luciferase reporter gene analysis. Results indicated that miR-19 had an interaction with Pax6 3'-untranslated region. At the same time, the protein expression of Pax6 was significantly decreased in the MG-63 cells transfected with miR-19 mimic and was notably enhanced in osteosarcoma MG-63 cells transfected with miR-19 inhibitor. These data suggested that Pax6 was a target of miR-19 in osteosarcoma MG-63 cells. The effects of miR-19 on the biological behavior of MG-63 cells were determined by 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide, flow cytometry, and Transwell assay. Results showed that the downregulation of miR-19 inhibited cell viability, reduced the percentage of cells in S phase and the number of cells passing through the Transwell chamber, and increased the number of apoptotic cells. Western blot analysis showed that the inhibition of miR-19 significantly increased the expression of epithelial proteins (E-cadherin and ß-catenin) and decreased the expression of mesenchymal protein (Vimentin), extracellular signal-regulated kinase, and phosphorylated extracellular signal-regulated kinase in MG-63 cells. MiR-19 inhibitor and Pax6 small interfering RNA were simultaneously transfected into MG-63 cells. Results from 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide, flow cytometry, and Transwell assay demonstrated that the inhibition of Pax6 expression in MG-63 cells could reverse the cell biological effects induced by the inhibition of miR-19 expression. Based on these findings, it was suggested that miR-19, upregulated in osteosarcoma cells, negatively regulated the expression of Pax6, which can promote the malignant phenotypes of osteosarcoma cells via activation of the extracellular signal-regulated kinase signaling pathways. Therefore, miR-19/Pax6 may offer potential for use as a target for the treatment of osteosarcoma.
[Mh] Termos MeSH primário: Neoplasias Ósseas/patologia
Regulação Neoplásica da Expressão Gênica/genética
MicroRNAs/metabolismo
Osteossarcoma/patologia
Fator de Transcrição PAX6/metabolismo
[Mh] Termos MeSH secundário: Neoplasias Ósseas/genética
Neoplasias Ósseas/metabolismo
Linhagem Celular Tumoral
Células Cultivadas
Seres Humanos
MicroRNAs/genética
Osteossarcoma/genética
Osteossarcoma/metabolismo
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (MIRN19 microRNA, human); 0 (MicroRNAs); 0 (PAX6 Transcription Factor); 0 (PAX6 protein, human)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180129
[Lr] Data última revisão:
180129
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180119
[St] Status:MEDLINE
[do] DOI:10.1177/1010428317744704


  4 / 1708 MEDLINE  
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[PMID]:29217025
[Au] Autor:Sannan NS; Gregory-Evans CY; Lyons CJ; Lehman AM; Langlois S; Warner SJ; Zakrzewski H; Gregory-Evans K
[Ad] Endereço:Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, B.C.
[Ti] Título:Correlation of novel PAX6 gene abnormalities in aniridia and clinical presentation.
[So] Source:Can J Ophthalmol;52(6):570-577, 2017 Dec.
[Is] ISSN:1715-3360
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo: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. Foveal hypoplasia was graded independently by 2 staff ophthalmologists. PAX6 sequencing was performed and chromosomal 11p anomalies investigated. Candidate gene and single-nucleotide polymorphism sequencing in genes functionally related to PAX6 were also studied. RESULTS: Best corrected visual acuities in the cohort ranged from 0.0 logMAR to no light perception. Total absence of iris tissue was seen in the majority (42 of 66 eyes). In those in whom SD-OCT was possible, foveal hypoplasia was seen in the majority (45 of 56 eyes, 80%). Molecular genetic defects involving PAX6 were identified in 30 participants (91%), including 4 novel PAX6 mutations (Gly18Val; Ser65ProfsX14; Met337ArgfsX18; Ser321CysfsX34) and 4 novel chromosome 11p deletions inclusive of PAX6 or a known PAX6 regulatory region. CONCLUSIONS: The number of PAX6 mutations associated with aniridia continues to increase. Variable foveal architecture despite nearly identical anterior segment disease in 4 participants with an Ex9 ELP4-Ex4 DCDC1 deletion suggested that molecular cues causing variation in disease in the posterior segment differ from those at play in the anterior segment. Results in 3 patients without identifiable PAX6 mutations and a review of the literature suggest that such cases be described as phenocopies rather than actual cases of the syndrome of aniridia.
[Mh] Termos MeSH primário: Aniridia/diagnóstico
Aniridia/genética
Fóvea Central/anormalidades
Mutação
Fator de Transcrição PAX6/genética
Polimorfismo de Nucleotídeo Único
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Criança
Deleção Cromossômica
Cromossomos Humanos Par 11/genética
Estudos de Coortes
Feminino
Amplificação de Genes
Seres Humanos
Hibridização in Situ Fluorescente
Masculino
Meia-Idade
Fenótipo
Estudos Prospectivos
Reação em Cadeia da Polimerase em Tempo Real
Tomografia de Coerência Óptica
Acuidade Visual/fisiologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (PAX6 Transcription Factor); 0 (PAX6 protein, human)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171226
[Lr] Data última revisão:
171226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171209
[St] Status:MEDLINE


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[PMID]:28867550
[Au] Autor:Dulcis D; Lippi G; Stark CJ; Do LH; Berg DK; Spitzer NC
[Ad] Endereço:Neurobiology Section, Division of Biological Sciences and Center for Neural Circuits and Behavior, Kavli Institute for Brain and Mind, University of California San Diego, La Jolla, CA 92093-0357, USA; Department of Psychiatry, School of Medicine, University of California San Diego, La Jolla, CA 9209
[Ti] Título:Neurotransmitter Switching Regulated by miRNAs Controls Changes in Social Preference.
[So] Source:Neuron;95(6):1319-1333.e5, 2017 Sep 13.
[Is] ISSN:1097-4199
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Changes in social preference of amphibian larvae result from sustained exposure to kinship odorants. To understand the molecular and cellular mechanisms of this neuroplasticity, we investigated the effects of olfactory system activation on neurotransmitter (NT) expression in accessory olfactory bulb (AOB) interneurons during development. We show that protracted exposure to kin or non-kin odorants changes the number of dopamine (DA)- or gamma aminobutyric acid (GABA)-expressing neurons, with corresponding changes in attraction/aversion behavior. Changing the relative number of dopaminergic and GABAergic AOB interneurons or locally introducing DA or GABA receptor antagonists alters kinship preference. We then isolate AOB microRNAs (miRs) differentially regulated across these conditions. Inhibition of miR-375 and miR-200b reveals that they target Pax6 and Bcl11b to regulate the dopaminergic and GABAergic phenotypes. The results illuminate the role of NT switching governing experience-dependent social preference. VIDEO ABSTRACT.
[Mh] Termos MeSH primário: Comportamento de Escolha/fisiologia
Dopamina/biossíntese
MicroRNAs/fisiologia
Neurotransmissores/biossíntese
Bulbo Olfatório/metabolismo
Comportamento Social
Ácido gama-Aminobutírico/biossíntese
[Mh] Termos MeSH secundário: Animais
Dopamina/fisiologia
Antagonistas de Dopamina/farmacologia
Antagonistas GABAérgicos/farmacologia
Interneurônios/fisiologia
MicroRNAs/antagonistas & inibidores
MicroRNAs/metabolismo
Neurônios/metabolismo
Neurônios/fisiologia
Neurotransmissores/fisiologia
Fator de Transcrição PAX6/fisiologia
Feromônios/fisiologia
Irmãos
Fatores de Transcrição/fisiologia
Proteínas de Xenopus/fisiologia
Xenopus laevis
Ácido gama-Aminobutírico/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; VIDEO-AUDIO MEDIA
[Nm] Nome de substância:
0 (Bcl11b protein, Xenopus); 0 (Dopamine Antagonists); 0 (GABA Antagonists); 0 (MicroRNAs); 0 (Neurotransmitter Agents); 0 (PAX6 Transcription Factor); 0 (Pax6 protein, Xenopus); 0 (Pheromones); 0 (Transcription Factors); 0 (Xenopus Proteins); 56-12-2 (gamma-Aminobutyric Acid); VTD58H1Z2X (Dopamine)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171003
[Lr] Data última revisão:
171003
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170905
[St] Status:MEDLINE


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[PMID]:28760551
[Au] Autor:Miao Q; Ping X; Tang X; Zhang L; Zhang X; Cheng Y; Shentu X
[Ad] Endereço:Eye Center, Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang Province, China; Zhejiang Provincial Key Laboratory of Ophthalmology, Hangzhou, Zhejiang Province, China.
[Ti] Título:Experimental assessment of novel PAX6 splicing mutations in two Chinese families with aniridia.
[So] Source:Gene;630:44-48, 2017 Sep 30.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Aniridia is a rare, congenital ocular disorder caused by the mutations of the paired box gene-6 (PAX6) (OMIM 607108), which encodes a highly conserved transcriptional regulator. In order to investigate the clinical characterizations and genetic defects of two Chinese families affected with aniridia, we recruited the family members and 200 ethnically matched controls. The entire exons and flanking intronic sequences of the PAX6 gene (NG_008679.1) were analyzed and effects of variants on splicing were assessed in silico and in vitro using exon trapping assay with pET01. The donor site (c.1183+1G>A) mutation identified in family 1 would result in a complete skipping of exon 12 and cause a frameshift and run-on translation past the normal termination codon, creating an enlarged PAX6 protein with extended COOH-terminal domain. Novel c.1033-1_1033delinsCT mutation was detected in family 2. This mutation provoked both complete exon 12 skipping and partial skipping of exon 12 deleting 7bp. This would lead to a frameshift translation and the introduction of pre-mature termination code, which resulted in severely truncated PAX6 protein likely to be degraded. Our study further expands the spectrum of genetic pathology underlying PAX6.
[Mh] Termos MeSH primário: Aniridia/genética
Mutação
Fator de Transcrição PAX6/genética
Processamento de RNA
[Mh] Termos MeSH secundário: Adulto
Aniridia/patologia
Criança
Feminino
Células HEK293
Seres Humanos
Masculino
Fator de Transcrição PAX6/metabolismo
Linhagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (PAX6 Transcription Factor); 0 (PAX6 protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170920
[Lr] Data última revisão:
170920
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170802
[St] Status:MEDLINE


  7 / 1708 MEDLINE  
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[PMID]:28700649
[Au] Autor:Laggner M; Pollreisz A; Schmidinger G; Schmidt-Erfurth U; Chen YT
[Ad] Endereço:Department of Ophthalmology & Optometry, Medical University of Vienna, Vienna, Austria.
[Ti] Título:Autophagy mediates cell cycle response by regulating nucleocytoplasmic transport of PAX6 in limbal stem cells under ultraviolet-A stress.
[So] Source:PLoS One;12(7):e0180868, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Limbal stem cells (LSC) account for homeostasis and regeneration of corneal epithelium. Solar ultraviolet A (UVA) is the major source causing oxidative damage in the ocular surface. Autophagy, a lysosomal degradation mechanism, is essential for physiologic function and stress defense of stem cells. PAX6, a master transcription factor governing corneal homeostasis by regulating cell cycle and cell fate of LSC, responds to oxidative stress by nucleocytoplasmic shuttling. Impaired autophagy and deregulated PAX6 have been reported in oxidative stress-related ocular surface disorders. We hypothesize a functional role for autophagy and PAX6 in LSC's stress response to UVA. Therefore, human LSC colonies were irradiated with a sub-lethal dose of UVA and autophagic activity and intracellular reactive oxygen species (ROS) were measured by CYTO-ID assay and CM-H2DCFDA live staining, respectively. Following UVA irradiation, the percentage of autophagic cells significantly increased in LSC colonies while intracellular ROS levels remained unaffected. siRNA-mediated knockdown (KD) of ATG7 abolished UVA-induced autophagy and led to an excessive accumulation of ROS. Upon UVA exposure, LSCs displayed nuclear-to-cytoplasmic translocation of PAX6, while ATG7KD or antioxidant pretreatment largely attenuated the intracellular trafficking event. Immunofluorescence showing downregulation of proliferative marker PCNA and induction of cell cycle regulator p21 indicates cell cycle arrest in UVA-irradiated LSC. Abolishing autophagy, adenoviral-assisted restoration of nuclear PAX6 or antioxidant pretreatment abrogated the UVA-induced cell cycle arrest. Adenoviral expression of an ectopic PAX gene, PAX7, did not affect UVA cell cycle response. Furthermore, knocking down PAX6 attenuated the cell cycle progression of irradiated ATG7KD LSC by de-repressing p21 expression. Collectively, our data suggest a crosstalk between autophagy and PAX6 in regulating cell cycle response of ocular progenitors under UVA stress. Autophagy deficiency leads to impaired intracellular trafficking of PAX6, perturbed redox balance and uncurbed cell cycle progression in UVA-stressed LSCs. The coupling of autophagic machinery and PAX6 in cell cycle regulation represents an attractive therapeutic target for hyperproliferative ocular surface disorders associated with solar radiation.
[Mh] Termos MeSH primário: Transporte Ativo do Núcleo Celular/fisiologia
Autofagia/fisiologia
Ciclo Celular/fisiologia
Células-Tronco/citologia
Células-Tronco/metabolismo
Raios Ultravioleta
[Mh] Termos MeSH secundário: Transporte Ativo do Núcleo Celular/genética
Autofagossomos/metabolismo
Autofagossomos/efeitos da radiação
Autofagia/genética
Ciclo Celular/genética
Células Cultivadas
Seres Humanos
Microscopia Confocal
Fator de Transcrição PAX6/genética
Fator de Transcrição PAX6/metabolismo
Fator de Transcrição PAX7/genética
Fator de Transcrição PAX7/metabolismo
Espécies Reativas de Oxigênio/metabolismo
Reação em Cadeia da Polimerase Via Transcriptase Reversa
Transdução de Sinais/efeitos da radiação
Células-Tronco/efeitos da radiação
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (PAX6 Transcription Factor); 0 (PAX7 Transcription Factor); 0 (PAX7 protein, human); 0 (Reactive Oxygen Species)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170925
[Lr] Data última revisão:
170925
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170713
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0180868


  8 / 1708 MEDLINE  
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[PMID]:28698262
[Au] Autor:Matsuda H; Mullapudi ST; Zhang Y; Hesselson D; Stainier DYR
[Ad] Endereço:Department of Developmental Genetics, Max Planck Institute for Heart and Lung Research, Bad Nauheim, Germany hiroki.matsuda.b5@tohoku.ac.jp didier.stainier@mpi-bn.mpg.de.
[Ti] Título:Thyroid Hormone Coordinates Pancreatic Islet Maturation During the Zebrafish Larval-to-Juvenile Transition to Maintain Glucose Homeostasis.
[So] Source:Diabetes;66(10):2623-2635, 2017 Oct.
[Is] ISSN:1939-327X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Thyroid hormone (TH) signaling promotes tissue maturation and adult organ formation. Developmental transitions alter an organism's metabolic requirements, and it remains unclear how development and metabolic demands are coordinated. We used the zebrafish as a model to test whether and how TH signaling affects pancreatic islet maturation, and consequently glucose homeostasis, during the larval to juvenile transition. We found that exogenous TH precociously activates the ß-cell differentiation genes and while downregulating a master regulator of α-cell development and function. Together, these effects induced hypoglycemia, at least in part by increasing and decreasing expression. We visualized TH target tissues using a novel TH-responsive reporter line and found that both α- and ß-cells become targets of endogenous TH signaling during the larval-to-juvenile transition. Importantly, endogenous TH is required during this transition for the functional maturation of α- and ß-cells in order to maintain glucose homeostasis. Thus, our study sheds new light on the regulation of glucose metabolism during major developmental transitions.
[Mh] Termos MeSH primário: Ilhotas Pancreáticas/metabolismo
Larva/metabolismo
Hormônios Tireóideos/farmacologia
[Mh] Termos MeSH secundário: Animais
Regulação da Expressão Gênica no Desenvolvimento/efeitos dos fármacos
Glucagon/genética
Glucagon/metabolismo
Glucose/metabolismo
Proteínas de Homeodomínio/genética
Proteínas de Homeodomínio/metabolismo
Insulina/genética
Insulina/metabolismo
Células Secretoras de Insulina/efeitos dos fármacos
Células Secretoras de Insulina/metabolismo
Ilhotas Pancreáticas/efeitos dos fármacos
Larva/efeitos dos fármacos
Fator de Transcrição PAX6/genética
Fator de Transcrição PAX6/metabolismo
Fatores de Transcrição Box Pareados/genética
Fatores de Transcrição Box Pareados/metabolismo
Fatores de Transcrição/genética
Fatores de Transcrição/metabolismo
Tri-Iodotironina/farmacologia
Peixe-Zebra
Proteínas de Peixe-Zebra/genética
Proteínas de Peixe-Zebra/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (HB9 protein, zebrafish); 0 (Homeodomain Proteins); 0 (Insulin); 0 (PAX6 Transcription Factor); 0 (Paired Box Transcription Factors); 0 (Pax6b protein, zebrafish); 0 (Thyroid Hormones); 0 (Transcription Factors); 0 (Zebrafish Proteins); 0 (pax4 protein, zebrafish); 06LU7C9H1V (Triiodothyronine); 9007-92-5 (Glucagon); IY9XDZ35W2 (Glucose)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171002
[Lr] Data última revisão:
171002
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170713
[St] Status:MEDLINE
[do] DOI:10.2337/db16-1476


  9 / 1708 MEDLINE  
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[PMID]:28598868
[Au] Autor:Lim HT; Kim DH; Kim H
[Ad] Endereço:aDepartment of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea bDepartment of Ophthalmology, Kim's Eye Hospital, College of Medicine, Konyang University, Nonsan, Korea.
[Ti] Título:PAX6 aniridia syndrome: clinics, genetics, and therapeutics.
[So] Source:Curr Opin Ophthalmol;28(5):436-447, 2017 Sep.
[Is] ISSN:1531-7021
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE OF REVIEW: Aniridia is a rare and panocular disorder affecting most of the ocular structures which may have significant impact on vision. The purpose of this review is to describe the clinical features, genetics, and therapeutic options for this disease and to provide an update of current knowledge and latest research findings. RECENT FINDINGS: Aside from the ocular features, a variety of associated systemic abnormalities, including hormonal, metabolic, gastrointestinal, genitourinary, and neurologic pathologies have been reported in children with aniridia. Although mutations in PAX6 are a major cause of aniridia, genetic defects in nearby genes, such as TRIM44 or ELP4, have also been reported to cause aniridia. Recent improvement in genetic testing technique will help more rapid and precise diagnosis for aniridia. A promising therapeutic approach called nonsense suppression therapy has been introduced and successfully used in an animal model. SUMMARY: Aniridia is a challenging disease. The progressive nature of this condition and its potential complications require continuous and life-long ophthalmologic care. Genetic diagnosis for aniridia is important for establishing definitive molecular characterization as well as identifying individuals at high risk for Wilms tumor. Recent advancement in understanding the genetic pathogenesis of this disease offers promise for the approaches to treatment.
[Mh] Termos MeSH primário: Aniridia
Técnicas de Diagnóstico Oftalmológico
Gerenciamento Clínico
Mutação
Fator de Transcrição PAX6/genética
[Mh] Termos MeSH secundário: Aniridia/diagnóstico
Aniridia/genética
Aniridia/terapia
Testes Genéticos/métodos
Seres Humanos
Fator de Transcrição PAX6/metabolismo
Síndrome
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (PAX6 Transcription Factor); 0 (PAX6 protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170901
[Lr] Data última revisão:
170901
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170610
[St] Status:MEDLINE
[do] DOI:10.1097/ICU.0000000000000405


  10 / 1708 MEDLINE  
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[PMID]:28547909
[Au] Autor:Chen T; Cavari B; Schartl M; Hong Y
[Ad] Endereço:Key Laboratory of Freshwater Animal Breeding, Ministry of Agriculture and College of Fisheries, Huazhong Agricultural University, Wuhan, Hubei, China.
[Ti] Título:Identification and Expression of Conserved and Novel RNA Variants of Medaka pax6b Gene.
[So] Source:J Exp Zool B Mol Dev Evol;328(5):412-422, 2017 Jul.
[Is] ISSN:1552-5015
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Gene duplication is a major driving force of evolution. How gene duplicates have evolved remains a mystery. A highly conserved gene such as Pax6 is an ideal model to study functional conservation and divergence via comparisons among diverse organisms. One pax6 gene has been characterized in the Japanese medaka (Oryzias latipes), which is annotated as pax6b on chromosome 3. Here, we report that Medaka pax6b is homolog to Pax6 of mammals in sequence, chromosomal synteny, and genomic organization. Cloning and sequencing led to the identification of up to 43 pax6b RNA variants predicting six protein isoforms, 22 of which are similar to those reported in other organisms and 21 represent novel RNA variants. By RT-PCR, the pax6b transcripts were found to be most abundant in the adult eye and easily detectable in the adult brain and pancreas but not detectable in developing embryos until gastrulation. Interestingly, apparently differential expression in adult organs was observed for several major variants. In situ hybridization revealed that pax6b exhibited highly conserved RNA expression in pancreas, brain, and eye of adult animals and developing embryos. Therefore, by sequence, chromosomal synteny, gene structure, conserved alternative transcription and splicing, and most importantly, conserved expression patterns in adulthood and embryogenesis, medaka pax6b represents a ortholog of Pax6 gene in mammals and is capable of generating differentially expressed RNA variants.
[Mh] Termos MeSH primário: Regulação da Expressão Gênica/fisiologia
Variação Genética
Oryzias/genética
Fator de Transcrição PAX6/metabolismo
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Animais
Sequência de Bases
Sequência Conservada
Genômica
Fator de Transcrição PAX6/genética
Plasmídeos
Isoformas de Proteínas
RNA/genética
RNA/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (PAX6 Transcription Factor); 0 (Protein Isoforms); 63231-63-0 (RNA)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170527
[St] Status:MEDLINE
[do] DOI:10.1002/jez.b.22742



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