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https://www.readbyqxmd.com/read/28716930/conserved-gene-regulatory-module-specifies-lateral-neural-borders-across-bilaterians
#1
Yongbin Li, Di Zhao, Takeo Horie, Geng Chen, Hongcun Bao, Siyu Chen, Weihong Liu, Ryoko Horie, Tao Liang, Biyu Dong, Qianqian Feng, Qinghua Tao, Xiao Liu
The lateral neural plate border (NPB), the neural part of the vertebrate neural border, is composed of central nervous system (CNS) progenitors and peripheral nervous system (PNS) progenitors. In invertebrates, PNS progenitors are also juxtaposed to the lateral boundary of the CNS. Whether there are conserved molecular mechanisms determining vertebrate and invertebrate lateral neural borders remains unclear. Using single-cell-resolution gene-expression profiling and genetic analysis, we present evidence that orthologs of the NPB specification module specify the invertebrate lateral neural border, which is composed of CNS and PNS progenitors...
July 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28637492/expression-patterns-of-fshd-causing-dux4-and-myogenic-transcription-factors-pax3-and-pax7-are-spatially-distinct-in-differentiating-human-stem-cell-cultures
#2
Premi Haynes, Kelly Kernan, Suk-Lin Zhou, Daniel G Miller
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is most commonly inherited in an autosomal dominant pattern and caused by the abnormal expression of DUX4 in skeletal muscle. The DUX4 transcription factor has DNA binding domains similar to several paired class homeotic transcription factors, but only myogenic factors PAX3 and PAX7 rescue cell viability when co-expressed with DUX4 in mouse myoblasts. This observation suggests competition for DNA binding sites in satellite cells might limit muscle repair and may be one aspect of DUX4-associated myotoxicity...
June 21, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28625870/pax3-and-pax7-mediated-dbx1-regulation-orchestrates-the-patterning-of-intermediate-spinal-interneurons
#3
Chris Gard, Gloria Gonzalez Curto, Youcef El-Mokhtar Frarma, Elodie Chollet, Nathalie Duval, Valentine Auzié, Frédéric Auradé, Lisa Vigier, Frédéric Relaix, Alessandra Pierani, Frédéric Causeret, Vanessa Ribes
Transcription factors are key orchestrators of the emergence of neuronal diversity within the developing spinal cord. As such, the two paralogous proteins Pax3 and Pax7 regulate the specification of progenitor cells within the intermediate neural tube, by defining a neat segregation between those fated to form motor circuits and those involved in the integration of sensory inputs. To attain insights into the molecular means by which they control this process, we have performed detailed phenotypic analyses of the intermediate spinal interneurons (IN), namely the dI6, V0D, V0VCG and V1 populations in compound null mutants for Pax3 and Pax7...
June 16, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28253300/the-pax-gene-family-highlights-from-cephalopods
#4
Sandra Navet, Auxane Buresi, Sébastien Baratte, Aude Andouche, Laure Bonnaud-Ponticelli, Yann Bassaglia
Pax genes play important roles in Metazoan development. Their evolution has been extensively studied but Lophotrochozoa are usually omitted. We addressed the question of Pax paralog diversity in Lophotrochozoa by a thorough review of available databases. The existence of six Pax families (Pax1/9, Pax2/5/8, Pax3/7, Pax4/6, Paxβ, PoxNeuro) was confirmed and the lophotrochozoan Paxβ subfamily was further characterized. Contrary to the pattern reported in chordates, the Pax2/5/8 family is devoid of homeodomain in Lophotrochozoa...
2017: PloS One
https://www.readbyqxmd.com/read/28035744/impact-of-fusion-gene-status-versus-histology-on-risk-stratification-for-rhabdomyosarcoma-retrospective-analyses-of-patients-on-uk-trials
#5
Joanna Selfe, David Olmos, Reem Al-Saadi, Khin Thway, Julia Chisholm, Anna Kelsey, Janet Shipley
BACKGROUND: Long-term toxicities from current treatments are a major issue in paediatric cancer. Previous studies, including our own, have shown prognostic value for the presence of PAX3/7-FOXO1 fusion genes in rhabdomyosarcoma (RMS). It is proposed to introduce PAX3/7-FOXO1 positivity as a component of risk stratification, rather than alveolar histology, in future clinical trials. PROCEDURE: To assess the potential impact of this reclassification, we have determined the changes to risk category assignment of 210 histologically reviewed patients treated in the UK from previous malignant mesenchymal tumour clinical trials for non-metastatic RMS based on identification of PAX3/7-FOXO1 by fluorescence in situ hybridisation and/or reverse transcription PCR...
July 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28017376/myogenic-potential-of-mouse-embryonic-stem-cells-lacking-functional-pax7-tested-in-vitro-by-5-azacitidine-treatment-and-in-vivo-in-regenerating-skeletal-muscle
#6
Anita Helinska, Maciej Krupa, Karolina Archacka, Areta M Czerwinska, Wladyslawa Streminska, Katarzyna Janczyk-Ilach, Maria A Ciemerych, Iwona Grabowska
Regeneration of skeletal muscle relies on the presence of satellite cells. Satellite cells deficiency accompanying some degenerative diseases is the reason for the search for the "replacement cells" that can be used in the muscle therapies. Due to their unique properties embryonic stem cells (ESCs), as well as myogenic cells derived from them, are considered as a promising source of therapeutic cells. Among the factors crucial for the specification of myogenic precursor cells is Pax7 that sustains proper function of satellite cells...
January 2017: European Journal of Cell Biology
https://www.readbyqxmd.com/read/27984116/microrna-and-gene-co-expression-networks-characterize-biological-and-clinical-behavior-of-rhabdomyosarcomas
#7
Edoardo Missiaglia, Chris J Shepherd, Ewa Aladowicz, David Olmos, Joanna Selfe, Gaëlle Pierron, Olivier Delattre, Zoe Walters, Janet Shipley
Rhabdomyosarcomas (RMS) in children and adolescents are heterogeneous sarcomas broadly defined by skeletal muscle features and the presence/absence of PAX3/7-FOXO1 fusion genes. MicroRNAs are small non-coding RNAs that regulate gene expression in a cell context specific manner. Sequencing analyses of microRNAs in 64 RMS revealed expression patterns separating skeletal muscle, fusion gene positive and negative RMS. Integration with parallel gene expression data assigned biological functions to 12 co-expression networks/modules that reassuringly included myogenic roles strongly correlated with microRNAs known in myogenesis and RMS development...
January 28, 2017: Cancer Letters
https://www.readbyqxmd.com/read/27864937/pax3-overexpression-induces-cell-aggregation-and-perturbs-commissural-axon-projection-during-embryonic-spinal-cord-development
#8
Juntang Lin, Sulei Fu, Ciqing Yang, Christoph Redies
Pax3 is a transcription factor that belongs to the paired box family. In the developing spinal cord it is expressed in the dorsal commissural neurons, which project ascending axons contralaterally to form proper spinal cord-brain circuitry. While it has been shown that Pax3 induces cell aggregation in vitro, little is known about the role of Pax3 in cell aggregation and spinal circuit formation in vivo. We have reported that Pax3 is involved in neuron differentiation and that its overexpression induces ectopic cadherin-7 expression...
May 1, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/27806318/med12-mutations-in-breast-phyllodes-tumors-evidence-of-temporal-tumoral-heterogeneity-and-identification-of-associated-critical-signaling-pathways
#9
Marick Laé, Sophie Gardrat, Sophie Rondeau, Camille Richardot, Martial Caly, Walid Chemlali, Sophie Vacher, Jérôme Couturier, Odette Mariani, Philippe Terrier, Ivan Bièche
Exome sequencing has recently identified highly recurrent MED12 somatic mutations in fibroadenomas (FAs) and phyllodes tumors (PTs). In the present study, based on a large series, we confirmed the presence of MED12 exon 1 and 2 mutations in 49% (41/83) of PTs, 70% (7/10) of FAs and 9.1% (1/11) of fibromatoses. We show that MED12 mutations are associated with benign behavior of phyllodes tumors, as they are detected less frequently in malignant PTs (27.6%) compared to benign (58.3%) and borderline (63.3%) PTs, respectively (p = 0...
December 20, 2016: Oncotarget
https://www.readbyqxmd.com/read/27759048/molecular-etiology-and-genotype-phenotype-correlation-of-chinese-han-deaf-patients-with-type-i-and-type-ii-waardenburg-syndrome
#10
Lianhua Sun, Xiaohua Li, Jun Shi, Xiuhong Pang, Yechen Hu, Xiaowen Wang, Hao Wu, Tao Yang
Waardenburg syndrome (WS) characterized by sensorineural hearing loss and pigmentary abnormalities is genetically heterogeneous and phenotypically variable. This study investigated the molecular etiology and genotype-phenotype correlation of WS in 36 Chinese Han deaf probands and 16 additional family members that were clinically diagnosed with WS type I (WS1, n = 8) and type II (WS2, n = 42). Mutation screening of six WS-associated genes detected PAX3 mutations in 6 (86%) of the 7 WS1 probands. Among the 29 WS2 probands, 13 (45%) and 10 (34%) were identified with SOX10 and MITF mutations, respectively...
October 19, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27488535/heme-oxygenase-1-controls-an-hdac4-mir-206-pathway-of-oxidative-stress-in-rhabdomyosarcoma
#11
Maciej Ciesla, Paulina Marona, Magdalena Kozakowska, Mateusz Jez, Marta Seczynska, Agnieszka Loboda, Karolina Bukowska-Strakova, Agata Szade, Magdalena Walawender, Magdalena Kusior, Jacek Stepniewski, Krzysztof Szade, Bart Krist, Oleksandr Yagensky, Aleksandra Urbanik, Bernarda Kazanowska, Jozef Dulak, Alicja Jozkowicz
Rhabdomyosarcoma (RMS) is an aggressive soft tissue cancer characterized by disturbed myogenic differentiation. Here we report a role for the oxidative stress response factor HO-1 in progression of RMS. We found that HO-1 was elevated and its effector target miR-206 decreased in RMS cell lines and clinical primary tumors of the more aggressive alveolar phenotype (aRMS). In embryonal RMS (eRMS), HO-1 expression was induced by Pax3/7-FoxO1, an aRMS hallmark oncogene, followed by a drop in miR-206 levels. Inhibition of HO-1 by tin protoporphyrin (SnPP) or siRNA downregulated Pax3/7-FoxO1 target genes and induced a myogenic program in RMS...
October 1, 2016: Cancer Research
https://www.readbyqxmd.com/read/27446912/gene-expression-profiling-of-muscle-stem-cells-identifies-novel-regulators-of-postnatal-myogenesis
#12
Sonia Alonso-Martin, Anne Rochat, Despoina Mademtzoglou, Jessica Morais, Aurélien de Reyniès, Frédéric Auradé, Ted Hung-Tse Chang, Peter S Zammit, Frédéric Relaix
Skeletal muscle growth and regeneration require a population of muscle stem cells, the satellite cells, located in close contact to the myofiber. These cells are specified during fetal and early postnatal development in mice from a Pax3/7 population of embryonic progenitor cells. As little is known about the genetic control of their formation and maintenance, we performed a genome-wide chronological expression profile identifying the dynamic transcriptomic changes involved in establishment of muscle stem cells through life, and acquisition of muscle stem cell properties...
2016: Frontiers in Cell and Developmental Biology
https://www.readbyqxmd.com/read/27385213/anaplastic-lymphoma-kinase-aberrations-correlate-with-metastatic-features-in-pediatric-rhabdomyosarcoma
#13
Patrizia Gasparini, Michela Casanova, Raffaella Villa, Paola Collini, Rita Alaggio, Angelica Zin, Paolo Bonvini, Cristina R Antonescu, Renata Boldrini, Roberto Caserini, Massimo Moro, Giovanni Centonze, Cristina Meazza, Maura Massimino, Luca Bergamaschi, Roberto Luksch, Stefano Chiaravalli, Gianni Bisogno, Nadia Zaffaroni, Maria Grazia Daidone, Gabriella Sozzi, Andrea Ferrari
Rhabdomyosarcoma (RMS) is the most frequent soft tissue tumor in childhood and arises from immature mesenchymal cells committed to skeletal muscle differentiation. Anaplastic Lymphoma Kinase (ALK) is a receptor tyrosine kinase aberrantly expressed in several cancers. Moreover, ALK full-length receptor protein has been observed in RMS, although its clinical and functional significance is yet controversial. The role of ALK and its clinical relevance were investigated in a selected cohort of 74 FFPE pediatric RMS and a panel of RMS cell lines, evaluating its gene and protein status, utilizing Fluorescent In Situ Hybridization (FISH), immunohistochemistry (IHC) and Western blot approaches...
September 13, 2016: Oncotarget
https://www.readbyqxmd.com/read/27264810/-mutation-analysis-of-seven-patients-with-waardenburg-syndrome
#14
Ziqi Hao, Yongan Zhou, Pengli Li, Quanbin Zhang, Jiao Li, Pengfei Wang, Xiangshao Li, Yong Feng
OBJECTIVE: To perform genetic analysis for 7 patients with Waardenburg syndrome. METHODS: Potential mutation of MITF, PAX3, SOX10 and SNAI2 genes was screened by polymerase chain reaction and direct sequencing. Functions of non-synonymous polymorphisms were predicted with PolyPhen2 software. RESULTS: Seven mutations, including c.649-651delAGA (p.R217del), c.72delG (p.G24fs), c.185T>C (p.M62T), c.118C>T (p.Q40X), c.422T>C (p.L141P), c...
June 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27180056/defining-ewing-and-ewing-like-small-round-cell-tumors-srct-the-need-for-molecular-techniques-in-their-categorization-and-differential-diagnosis-a-study-of-200-cases
#15
Isidro Machado, Lara Navarro, Antonio Pellin, Samuel Navarro, Abbas Agaimy, Juan C Tardío, Apollon Karseladze, Semyon Petrov, Katia Scotlandi, Piero Picci, Antonio Llombart-Bosch
BACKGROUND: Differentiation of Ewing sarcoma family of tumors (ESFT) and Ewing-like tumors remains problematic. Certain ESFT with morphological and immunohistochemical (IHC) profiles lack the EWSR1-ETS transcript. To improve diagnostic accuracy we investigated the presence of several specific transcripts in 200 small round cell tumors (SRCT) displaying ESFT morphology and immunophenotype in which EWSR1 FISH analysis was non-informative or negative. DESIGN: 200 tumors (formalin-fixed, paraffin-embedded) were analyzed by RT-PCR...
June 2016: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/27151209/nervous-system-development-in-cephalopods-how-egg-yolk-richness-modifies-the-topology-of-the-mediolateral-patterning-system
#16
A Buresi, A Andouche, S Navet, Y Bassaglia, L Bonnaud-Ponticelli, S Baratte
Cephalopods possess the most complex centralized nervous system among molluscs and the molecular determinants of its development have only begun to be explored. To better understand how evolved their brain and body axes, we studied Sepia officinalis embryos and investigated the expression patterns of neural regionalization genes involved in the mediolateral patterning of the neuroectoderm in model species. SoxB1 expression reveals that the embryonic neuroectoderm is made of several distinct territories that constitute a large part of the animal pole disc...
July 1, 2016: Developmental Biology
https://www.readbyqxmd.com/read/27109517/bioactivity-focus-of-%C3%AE-cyano-4-hydroxycinnamic-acid-chca-leads-to-effective-multifunctional-aldose-reductase-inhibitors
#17
Laitao Zhang, Yi-Fang Li, Sheng Yuan, Shijie Zhang, Huanhuan Zheng, Jie Liu, Pinghua Sun, Yijun Gu, Hiroshi Kurihara, Rong-Rong He, Heru Chen
Bioactivity focus on α-cyano-4-hydroxycinnamic acid (CHCA) scaffold results in a small library of novel multifunctional aldose reductase (ALR2) inhibitors. All the entities displayed good to excellent inhibition with IC50 72-405 nM. (R,E)-N-(3-(2-acetamido-3-(benzyloxy)propanamido)propyl)-2-cyano-3-(4-hydroxy phenyl)acrylamide (5f) was confirmed as the most active inhibitor (IC50 72.7 ± 1.6 nM), and the best antioxidant. 5f bound to ALR2 with new mode without affecting the aldehyde reductase (ALR1) activity, implicating high selectivity to ALR2...
April 25, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27014961/pax3-skeletal-muscle-satellite-cells-retain-long-term-self-renewal-and-proliferation
#18
Qiumei Yang, Jie Yu, Bing Yu, Zhiqing Huang, Keying Zhang, De Wu, Jun He, Xiangbing Mao, Ping Zheng, Daiwen Chen
INTRODUCTION: Different populations of satellite cells (SCs) have been identified, but their functional difference remains unclear. METHODS: We used cell-surface markers and paired box transcription factor 3 (Pax3)/paired box transcription factor 7 (Pax7) expression to separate SC populations. In addition, self-renewal, proliferation, and differentiation abilities of each population were analyzed. RESULTS: Pax3(+) /Pax7(-) SCs exhibited higher proliferation ability characterized by forming clusters of myogenic colonies with more self-renewing cells after several passages, while Pax3(-) /Pax7(+) SCs had faster differentiation...
November 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/26940741/high-glucose-suppresses-embryonic-stem-cell-differentiation-into-neural-lineage-cells
#19
Penghua Yang, Wei-bin Shen, E Albert Reece, Xi Chen, Peixin Yang
Abnormal neurogenesis occurs during embryonic development in human diabetic pregnancies and in animal models of diabetic embryopathy. Our previous studies in a mouse model of diabetic embryopathy have implicated that high glucose of maternal diabetes delays neurogenesis in the developing neuroepithelium leading to neural tube defects. However, the underlying process in high glucose-impaired neurogenesis is uncharacterized. Neurogenesis from embryonic stem (ES) cells provides a valuable model for understanding the abnormal neural lineage development under high glucose conditions...
April 1, 2016: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/26781036/clinical-and-genetic-investigation-of-families-with-type-ii-waardenburg-syndrome
#20
Yong Chen, Fuwei Yang, Hexin Zheng, Jianda Zhou, Ganghua Zhu, Peng Hu, Weijing Wu
The present study aimed to investigate the molecular pathology of Waardenburg syndrome type II in three families, in order to provide genetic diagnosis and hereditary counseling for family members. Relevant clinical examinations were conducted on the probands of the three pedigrees. Peripheral blood samples of the probands and related family members were collected and genomic DNA was extracted. The coding sequences of paired box 3 (PAX3), microphthalmia‑associated transcription factor (MITF), sex‑determining region Y‑box 10 (SOX10) and snail family zinc finger 2 (SNAI2) were analyzed by polymerase chain reaction and DNA sequencing...
March 2016: Molecular Medicine Reports
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