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https://www.readbyqxmd.com/read/29045167/identification-of-a-novel-de-novo-heterozygous-deletion-in-the-sox10-gene-in-waardenburg-syndrome-type-ii-using-next-generation-sequencing
#1
Haonan Li, Peng Jin, Qian Hao, Wei Zhu, Xia Chen, Ping Wang
OBJECTIVES: Waardenburg syndrome (WS) is a rare autosomal dominant disorder associated with pigmentation abnormalities and sensorineural hearing loss. In this study, we investigated the genetic cause of WSII in a patient and evaluated the reliability of the targeted next-generation exome sequencing method for the genetic diagnosis of WS. METHODS: Clinical evaluations were conducted on the patient and targeted next-generation sequencing (NGS) was used to identify the candidate genes responsible for WSII...
October 18, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/29042215/a-novel-stilbene-like-compound-that-inhibits-melanoma-growth-by-regulating-melanocyte-differentiation-and-proliferation
#2
Noah A Stueven, Nicholas M Schlaeger, Aaron P Monte, Sheng-Ping L Hwang, Cheng-Chen Huang
Melanoma is the most aggressive form of skin cancer. Current challenges to melanoma therapy include the adverse effects from immunobiologics, resistance to drugs targeting the MAPK pathway, intricate interaction of many signal pathways, and cancer heterogeneity. Thus combinational therapy with drugs targeting multiple signaling pathways becomes a new promising therapy. Here, we report a family of stilbene-like compounds called A11 that can inhibit melanoma growth in both melanoma-forming zebrafish embryos and mouse melanoma cells...
October 14, 2017: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/29035460/pleural-alveolar-rhabdomyosarcoma
#3
Hongyang Lu, Jing Qin, Zeng Wang
Alveolar rhabdomyosarcoma (ARMS) commonly occurring in children and adolescents, is a rare and aggressive soft tissue malignancy. Here, a rare case of pleural ARMS is reported in a boy presenting dyspnea for two weeks. The pathology of a biopsy specimen from pleura showed ARMS. PAX3-FKHR fusion protein is positive and the PAX7-FKHR fusion protein is negative as detected by fluorescence in situ hybridization. The prognosis of this patient was poor and nonresponsive to chemotherapy.
October 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28981396/cancer-specific-energy-metabolism-in-rhabdomyosarcoma-cells-is-regulated-by-microrna
#4
Nobuhiko Sugito, Kohei Taniguchi, Yuki Kuranaga, Maki Ohishi, Tomoyoshi Soga, Yuko Ito, Mitsuru Miyachi, Ken Kikuchi, Hajime Hosoi, Yukihiro Akao
Rhabdomyosarcoma (RMS) is a soft tissue sarcoma and is most frequently found in children. In RMS, there are two major subtypes, that is, embryonal RMS and alveolar RMS (ARMS). ARMS has exclusively the worse prognosis and is caused by formation of the chimeric PAX3-FOXO1 gene. Regarding cancer, the Warburg effect is known as a feature of cancer-specific metabolism. Polypyrimidine tract-binding protein 1 (PTBP1), a splicer of pyruvate kinase muscle (PKM) mRNA, is a positive regulator of cancer-specific energy metabolism...
October 5, 2017: Nucleic Acid Therapeutics
https://www.readbyqxmd.com/read/28978038/isolation-and-detection-of-circulating-tumour-cells-from-metastatic-melanoma-patients-using-a-slanted-spiral-microfluidic-device
#5
Carlos A Aya-Bonilla, Gabriela Marsavela, James B Freeman, Chris Lomma, Markus H Frank, Muhammad A Khattak, Tarek M Meniawy, Michael Millward, Majid E Warkiani, Elin S Gray, Mel Ziman
Circulating Tumour Cells (CTCs) are promising cancer biomarkers. Several methods have been developed to isolate CTCs from blood samples. However, the isolation of melanoma CTCs is very challenging as a result of their extraordinary heterogeneity, which has hindered their biological and clinical study. Thus, methods that isolate CTCs based on their physical properties, rather than surface marker expression, such as microfluidic devices, are greatly needed in melanoma. Here, we assessed the ability of the slanted spiral microfluidic device to isolate melanoma CTCs via label-free enrichment...
September 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28978033/mysm1-2a-dub-is-an-epigenetic-regulator-in-human-melanoma-and-contributes-to-tumor-cell-growth
#6
Christina Wilms, Carsten M Kroeger, Adelheid V Hainzl, Ishani Banik, Clara Bruno, Ioanna Krikki, Vida Farsam, Meinhard Wlaschek, Martina V Gatzka
Histone modifying enzymes, such as histone deacetylases (HDACs) and polycomb repressive complex (PRC) components, have been implicated in regulating tumor growth, epithelial-mesenchymal transition, tumor stem cell maintenance, or repression of tumor suppressor genes - and may be promising targets for combination therapies of melanoma and other cancers. According to recent findings, the histone H2A deubiquitinase 2A-DUB/Mysm1 interacts with the p53-axis in hematopoiesis and tissue differentiation in mice, in part by modulating DNA-damage responses in stem cell and progenitor compartments...
September 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28972999/effects-of-insulin-like-growth-factors-on-early-embryonic-chick-limb-myogenesis
#7
Rabeea Hazim Mohammed, Helen Anderton, John Michael Brameld, Dylan Sweetman
Limb muscles derive from pax3 expressing precursor cells that migrate from the hypaxial somite into the developing limb bud. Once there they begin to differentiate and express muscle determination genes such as MyoD. This process is regulated by a combination of inductive or inhibitory signals including Fgf18, retinoic acid, HGF, Notch and IGFs. IGFs are well known to affect late stages of muscle development and to promote both proliferation and differentiation. We examined their roles in early stage limb bud myogenesis using chicken embryos as an experimental model...
2017: PloS One
https://www.readbyqxmd.com/read/28943254/sox7-is-required-for-muscle-satellite-cell-development-and-maintenance
#8
Rashida F Rajgara, Neena Lala-Tabbert, François Marchildon, Émilie Lamarche, Jennifer K MacDonald, Daryl A Scott, Alexandre Blais, Ilona S Skerjanc, Nadine Wiper-Bergeron
Satellite cells are skeletal-muscle-specific stem cells that are activated by injury to proliferate, differentiate, and fuse to enable repair. SOX7, a member of the SRY-related HMG-box family of transcription factors is expressed in quiescent satellite cells. To elucidate SOX7 function in skeletal muscle, we knocked down Sox7 expression in embryonic stem cells and primary myoblasts and generated a conditional knockout mouse in which Sox7 is excised in PAX3(+) cells. Loss of Sox7 in embryonic stem cells reduced Pax3 and Pax7 expression...
October 10, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28935672/the-dux4-homeodomains-mediate-inhibition-of-myogenesis-and-are-functionally-exchangeable-with-the-pax7-homeodomain
#9
Darko Bosnakovski, Erik A Toso, Lynn M Hartweck, Alessandro Magli, Heather A Lee, Eliza R Thompson, Abhijit Dandapat, Rita C R Perlingeiro, Michael Kyba
Facioscapulohumeral muscular dystrophy (FSHD) is caused by inappropriate expression of the double homeodomain protein, DUX4. DUX4 has bimodal effects, inhibiting myogenic differentiation and blocking MyoD at low levels of expression, and killing myoblasts at high levels. Pax3 and Pax7, which contain related homeodomains, antagonize the cell death phenotype of DUX4 in C2C12 cells, suggesting some type of competitive interaction. Here, we show that effects on differentiation and MyoD expression require the homeodomains but do not require the C-terminal activation domain of DUX4...
September 21, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28927774/chronic-intestinal-pseudo-obstruction-in-a-child-with-treacher-collins-syndrome
#10
E Giabicani, J Lemale, L Dainese, S Boudjemaa, A Coulomb, P Tounian, B Dubern
BACKGROUND: Treacher Collins syndrome (TCS) mainly presents with severe craniofacial developmental abnormalities characterized by a combination of bilateral downward-slanting palpebral fissures, colobomas of the lower eyelids, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. It is due to mutations in Treacher Collins syndrome 1 (TCOF1) (5q32-q33.1) and Polymerase RNA 1 polypeptides D and C (POLR1D [13q12...
September 15, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28893539/functional-analysis-of-a-sox10-gene-mutation-associated-with-waardenburg-syndrome-ii
#11
Xue-Ping Wang, Zi-Qi Hao, Ya-Lan Liu, Ling-Yun Mei, Chu-Feng He, Zhi-Jie Niu, Jie Sun, Yu-Lin Zhao, Yong Feng
Waardenburg syndrome (WS) is an autosomal dominant inherited non-syndromic type of hereditary hearing loss characterized by varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and inner ear. WS is classified into four subtypes (WS1-WS4) based on additional symptoms. WS2 is characterized by the absence of additional symptoms. Recently, we identified a SOX10 missense mutation c.422T > C (p.L141P) associated with WS2. We performed functional assays and found the mutant loses DNA-binding capacity, shows aberrant cytoplasmic and nuclear localization, and fails to interact with PAX3...
November 4, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28891439/the-regulation-of-differentiation-of-mesenchymal-stem-cells-into-skeletal-muscle-a-look-at-signalling-molecules-involved-in-myogenesis
#12
Bethany Hodgson, Reza Mafi, Pouya Mafi, Wasim Khan
Mesenchymal Stem Cells (MSCs) are an attractive option for the development of treatment for musculoskeletal pathologies due to their wide availability, clinical safety and multiple techniques available. Understanding the control of MSC differentiation into skeletal muscle is vital for developing protocols and therapeutic applications that are safe and effective. This paper therefore aims to review the current understanding of factors that regulate the differentiation of MSCs into skeletal muscle. Medline, Embase, Pubmed and Web of Science were searched December 2015 using the terms 'differentia*, skeletal*, skeleton*, myocyt*, myogen* and mesenchym* stem-cell*...
September 6, 2017: Current Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/28883017/nf%C3%AE%C2%BAb-signaling-in-alveolar-rhabdomyosarcoma
#13
Megan M Cleary, Atiya Mansoor, Teagan Settelmeyer, Yuichi Ijiri, Katherine J Ladner, Matthew N Svalina, Brian P Rubin, Denis C Guttridge, Charles Keller
Alveolar rhabdomyosarcoma (aRMS) is a pediatric soft tissue cancer commonly associated with a chromosomal translocation that leads to the expression of a Pax3:Foxo1 or Pax7:Foxo1 fusion protein, the developmental underpinnings of which may give clues to its therapeutic approaches. In aRMS, the NFκB-YY1-miR-29 regulatory circuit is dysregulated, resulting in repression of miR-29 and loss of the associated tumor suppressor activity. To further elucidate the role of NFκB in aRMS, we first tested 55 unique sarcoma cell lines and primary cell cultures in a large-scale chemical screen targeting diverse molecular pathways...
September 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28875443/sinonasal-tract-alveolar-rhabdomyosarcoma-in-adults-a-clinicopathologic-and-immunophenotypic-study-of-fifty-two-cases-with-emphasis-on-epithelial-immunoreactivity
#14
Lester D R Thompson, Vickie Y Jo, Abbas Agaimy, Antonio Llombart-Bosch, Gema Nieto Morales, Isidro Machado, Uta Flucke, Paul E Wakely, Markku Miettinen, Justin A Bishop
Sinonasal tract (SNT) alveolar rhabdomyosarcoma (ARMS) are frequently misdiagnosed, especially in adults. Fifty-two adult (≥18 years) patients with SNT ARMS were reviewed and characterized by immunohistochemistry and molecular studies. Twenty-six females and 26 males (18-72 years; mean 43.2 years), presented after a short duration (mean 2.6 months) with a large (mean 5.5 cm) destructive nasal cavity mass, involving multiple contiguous paranasal sites (n = 46) and with cervical adenopathy (n = 41)...
September 5, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28870996/vestigial-like-3-is-a-novel-ets1-interacting-partner-and-regulates-trigeminal-nerve-formation-and-cranial-neural-crest-migration
#15
Emilie Simon, Nadine Thézé, Sandrine Fédou, Pierre Thiébaud, Corinne Faucheux
Drosophila Vestigial is the founding member of a protein family containing a highly conserved domain, called Tondu, which mediates their interaction with members of the TEAD family of transcription factors (Scalloped in Drosophila). In Drosophila, the Vestigial/Scalloped complex controls wing development by regulating the expression of target genes through binding to MCAT sequences. In vertebrates, there are four Vestigial-like genes, the functions of which are still not well understood. Here, we describe the regulation and function of vestigial-like 3 (vgll3) during Xenopus early development...
October 15, 2017: Biology Open
https://www.readbyqxmd.com/read/28861346/identification-of-rare-paired-box-3-variant-in-strabismus-by-whole-exome-sequencing
#16
Hui-Min Gong, Jing Wang, Jing Xu, Zhan-Yu Zhou, Jing-Wen Li, Shu-Fang Chen
AIM: To identify the potentially pathogenic gene variants that contributes to the etiology of strabismus. METHODS: A Chinese pedigree with strabismus was collected and the exomes of two affected individuals were sequenced using the next-generation sequencing technology. The resulting variants from exome sequencing were filtered by subsequent bioinformatics methods and the candidate mutation was verified as heterozygous in the affected proposita and her mother by sanger sequencing...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28855355/mitf-high-and-mitf-low-cells-and-a-novel-subpopulation-expressing-genes-of-both-cell-states-contribute-to-intra-and-inter-tumoral-heterogeneity-of-primary-melanoma
#17
Marie Ennen, Celine Keime, Giovanni Gambi, Alice Kieny, Sebastien Coassolo, Christelle Thibault-Carpentier, Fanny Margerin-Schaller, Guillaume Davidson, Constance Vagne, Dan Lipsker, Irwin Davidson
PURPOSE: Understanding tumour heterogeneity is an important challenge in current cancer research. Transcription and epigenetic profiling of cultured melanoma cells have defined at least two distinct cell phenotypes characterised by distinctive gene expression signatures associated with high or low/absent expression of Microphthalmia-associated transcription factor (MITF). Nevertheless, heterogeneity of cell populations and gene expression in primary human tumours is much less well characterised...
August 28, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28843494/phosphorylation-of-lbx1-controls-lateral-myoblast-migration-into-the-limb
#18
Wouter Masselink, Megumi Masaki, Daniel Sieiro, Christophe Marcelle, Peter D Currie
The migration of limb myogenic precursors from limb level somites to their ultimate site of differentiation in the limb is a paradigmatic example of a set of dynamic and orchestrated migratory cell behaviours. The homeobox containing transcription factor ladybird homeobox 1 (Lbx1) is a central regulator of limb myoblast migration, null mutations of Lbx1 result in severe disruptions to limb muscle formation, particularly in the distal region of the limb in mice (Gross et al., 2000). As such Lbx1 has been hypothesized to control lateral migration of myoblasts into the distal limb anlage...
October 15, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28815248/-differentially-expressed-genes-between-the-human-mandible-and-ilium-derived-mesenchymal-cells
#19
Quan-Quan Yang, Jiao Wang, Zhi-Yong Li
PURPOSE: To explore the differentially expressed genes between human mandible- and ilium- derived mesenchymal cells. METHODS: Differentially expressed genes between the human mandible- and ilium- derived mesenchymal cells were obtained from the GEO database based on the analysis of GEO2R software, then the relationship among these genes were analysed using DAVID and Gene MANIA on-line database. RESULTS: Two hundred and ninety three differentially expressed genes between the human mandible and iliac derived mesenchymal cells were obtained, and most of them were homeobox genes that related to bone development...
April 2017: Shanghai Kou Qiang Yi Xue, Shanghai Journal of Stomatology
https://www.readbyqxmd.com/read/28808339/direct-reprogramming-of-fibroblasts-into-skeletal-muscle-progenitor-cells-by-transcription-factors-enriched-in-undifferentiated-subpopulation-of-satellite-cells
#20
Naoki Ito, Isao Kii, Noriaki Shimizu, Hirotoshi Tanaka, Takeda Shin'ichi
Satellite cells comprise a functionally heterogeneous population of stem cells in skeletal muscle. Separation of an undifferentiated subpopulation and elucidation of its molecular background are necessary to identify the reprogramming factors to induce skeletal muscle progenitor cells. In this study, we found that intracellular esterase activity distinguishes a subpopulation of cultured satellite cells with high stemness using esterase-sensitive cell staining reagent, calcein-AM. Gene expression analysis of this subpopulation revealed that defined combinations of transcription factors (Pax3, Mef2b, and Pitx1 or Pax7, Mef2b, and Pitx1 in embryonic fibroblasts, and Pax7, Mef2b and MyoD in adult fibroblasts) reprogrammed fibroblasts into skeletal muscle progenitor cells...
August 14, 2017: Scientific Reports
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