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https://www.readbyqxmd.com/read/29224756/novel-pax3-mutations-causing-waardenburg-syndrome-type-1-in-tunisian-patients
#1
Mediha Trabelsi, Malek Nouira, Faouzi Maazoul, Lilia Kraoua, Rim Meddeb, Ines Ouertani, Imen Chelly, Valérie Benoit, Ghazi Besbes, Ridha Mrad
Waardenburg syndrome (WS) is an auditory-pigmentary disease characterized by a clinical and genetic variability. WS is classified into four types depending on the presence or absence of additional symptoms: WS1, WS2, WS3 and WS4. Type 1 and 3 are mostly caused by PAX3 mutations, while type 2 and type 4 are genetically heterogeneous. The aims of this study are to confirm the diagnostic of WS1 by the sequencing of PAX3 gene and to evaluate the genotype phenotype correlation. A clinical classification was established for 14 patients WS, as proposed by the Waardenburg Consortium, and noted a predominance of type 1 and type 2 with 6 patients WS1, 7 patients WS2 and 1 patient WS3...
December 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29224278/-clinicopathologic-and-molecular-genetic-characterizations-of-biphenotypic-sinonasal-sarcoma
#2
M Zhao, Q Y LaoI, D H Zhao, J Ma, G Q Ru, X L He, Z Wang, J Wang
Objective: To investigate the clinicopathologic characteristics, immunophenotypes, molecular genetics, and diagnostic and differential diagnostic features of biphenotypic sinonasal sarcoma (BSNS). Methods: Three cases of BSNS were retrieved, the histomorphology, immunophenotype and molecular genetics were analyzed with review of literature. Results: There were 2 male and 1 female patient aged 45, 29 and 40 years, respectively.Computed tomography and magnetic resonance imaging examinations showed a large polypoid mass occupying the sinonasal cavity in all 3 patients...
December 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/29214757/clinical-and-cytogenetic-profiles-of-rhabdomyosarcoma-with-bone-marrow-involvement-in-korean-children-a-15-year-single-institution-experience
#3
Dong Hyun Lee, Chan Jeoung Park, Seongsoo Jang, Young Uk Cho, Jong Jin Seo, Ho Joon Im, Kyung Nam Koh, Kyung Ja Cho, Joon Seon Song, Eul Ju Seo
BACKGROUND: Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children. Alveolar RMS (ARMS) is characterized by FOXO1-related chromosomal translocations that result in a poorer clinical outcome compared with embryonal RMS (ERMS). Because the chromosomal features of RMS have not been comprehensively defined, we analyzed the clinical and laboratory data of childhood RMS patients and determined the clinical significance of chromosomal abnormalities in the bone marrow. METHODS: Fifty-one Korean patients with RMS <18 years of age treated between 2001 and 2015 were enrolled in this study...
March 2018: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/29214748/alterations-in-the-in-vitro-and-in-vivo-regulation-of-muscle-regeneration-in-healthy-ageing-and-the-influence-of-sarcopenia
#4
Joanna Brzeszczyńska, Angelika Meyer, Robin McGregor, Alain Schilb, Simone Degen, Valentina Tadini, Neil Johns, Ramon Langen, Annemie Schols, David J Glass, Ronenn Roubenoff, James A Ross, Kenneth C H Fearon, Carolyn A Greig, Carsten Jacobi
BACKGROUND: Sarcopenia is defined as the age-related loss of skeletal muscle mass and function. While all humans lose muscle with age, 2-5% of elderly adults develop functional consequences (disabilities). The aim of this study was to investigate muscle myogenesis in healthy elderly adults, with or without sarcopenia, compared with middle-aged controls using both in vivo and in vitro approaches to explore potential biomarker or causative molecular pathways associated with sarcopenic versus non-sarcopenic skeletal muscle phenotypes during ageing...
December 6, 2017: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/29186180/clonogenic-myogenic-progenitors-expressing-mcam-cd146-are-incorporated-as-adventitial-reticular-cells-in-the-microvascular-compartment-of-human-post-natal-skeletal-muscle
#5
Tiziana Persichini, Alessia Funari, Marco Colasanti, Benedetto Sacchetti
Recent observation identifies subendothelial (mural) cells expressing MCAM, a specific system of clonogenic, self-renewing, osteoprogenitors (a.k.a, "mesenchymal stem cells") in the microvascular compartment of post-natal human bone marrow (BM). In this study, we used MCAM/CD146, as a marker to localize, isolate and assay subendothelial clonogenic cells from the microvasculature of postnatal human skeletal muscle. We show here that these cells share with their BM counterpart, anatomic position (subendothelial/adventitial) and ex vivo clonogenicity (CFU-Fs)...
2017: PloS One
https://www.readbyqxmd.com/read/29181033/insulin-like-growth-factor-binding-protein-6-alters-skeletal-muscle-differentiation-of-human-mesenchymal-stem-cells
#6
Doaa Aboalola, Victor K M Han
Insulin-like growth factor binding protein-6 (IGFBP-6), the main regulator of insulin-like growth factor-2 (IGF-2), is a component of the stem cell niche in developing muscle cells. However, its role in muscle development has not been clearly defined. In this study, we investigated the role of IGFBP-6 in muscle commitment and differentiation of human mesenchymal stem cells derived from the placenta. We showed that placental mesenchymal stem cells (PMSCs) have the ability to differentiate into muscle cells when exposed to a specific culture medium by expressing muscle markers Pax3/7, MyoD, myogenin, and myosin heavy chain in a stage-dependent manner with the ultimate formation of multinucleated fibers and losing pluripotency-associated markers, OCT4 and SOX2...
2017: Stem Cells International
https://www.readbyqxmd.com/read/29158168/identification-and-functional-analysis-of-a-novel-mutation-in-the-pax3-gene-associated-with-waardenburg-syndrome-type-i
#7
Zhijie Niu, Jiada Li, Fen Tang, Jie Sun, Xueping Wang, Lu Jiang, Lingyun Mei, Hongsheng Chen, Yalan Liu, Xinzhang Cai, Yong Feng, Chufeng He
Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant genetic disorder of neural crest cells (NCC) characterized by congenital sensorineural hearing loss, dystopia canthorum, and abnormal iris pigmentation. WS1 is due to loss-of-function mutations in paired box gene 3 (PAX3). Here, we identified a novel PAX3 mutation (c.808C>G, p.R270G) in a three-generation Chinese family with WS1, and then analyzed its in vitro activities. The R270G PAX3 retained nuclear distribution and normal DNA-binding ability; however, it failed to activate MITF promoter, suggesting that haploinsufficiency may be the underlying mechanism for the mild WS1 phenotype of the study family...
November 17, 2017: Gene
https://www.readbyqxmd.com/read/29152063/acquisition-of-an-oncogenic-fusion-protein-is-sufficient-to-globally-alter-the-landscape-of-mirna-expression-to-inhibit-myogenic-differentiation
#8
Jacob M Loupe, Patrick J Miller, Judy S Crabtree, Jovanny Zabaleta, Andrew D Hollenbach
The differentiation status of tumors is used as a prognostic indicator, with tumors comprised of less differentiated cells exhibiting higher levels of aggressiveness that correlate with a poor prognosis. Although oncogenes contribute to blocking differentiation, it is not clear how they globally alter miRNA expression during differentiation to achieve this result. The pediatric sarcoma Alveolar Rhabdomyosarcoma, which is primarily characterized by the expression of the PAX3-FOXO1 oncogenic fusion protein, consists of undifferentiated muscle cells...
October 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/29146205/pax3-foxo1-zooming-in-on-an-undruggable-target
#9
REVIEW
Marco Wachtel, Beat W Schäfer
Driver oncogenes are prime targets for therapy in tumors many of which, including leukemias and sarcomas, express recurrent fusion transcription factors. One specific example for such a cancer type is alveolar rhabdomyosarcoma, which is associated in the majority of cases with the fusion protein PAX3-FOXO1. Since fusion transcription factors are challenging targets for development of small molecule inhibitors, indirect inhibitory strategies for this type of oncogenes represent a more promising approach. One can envision strategies at different molecular levels including upstream modifiers and activators, epigenetic and transcriptional co-regulators, and downstream effector targets...
November 13, 2017: Seminars in Cancer Biology
https://www.readbyqxmd.com/read/29134414/pax3-promotes-cell-migration-and-cxcr4-gene-expression-in-neural-crest-cells
#10
Man Xu, Yongle Li, Jinfeng Du, Hengrong Lin, Sixian Cao, Zuming Mao, Ronghua Wu, Mei Liu, Yan Liu, Qiyou Yin
Neural crest (NC) cells are a multipotent cell population with powerful migration ability during development. C-X-C chemokine receptor type 4 (CXCR4) is a chemokine receptor implicated to mediate NC migration in various species, whereas the underlying mechanism is not well documented yet. PAX3 is a critical transcription factor for the formation of neural crest and the migration and differentiation of NCs. In this study, we retrieved a potential PAX3 binding element in the promoter of the CXCR4 gene, and we further found that PAX3 could promote the expression of CXCR4 and facilitate the migration of NCs...
November 13, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/29115496/prenatal-diagnosis-and-genetic-counseling%C3%A2-for-waardenburg-syndrome-type%C3%A2-i-and-ii-in-chinese-families
#11
Li Wang, Litao Qin, Tao Li, Hongjian Liu, Lingcao Ma, Wan Li, Dong Wu, Hongdan Wang, Qiannan Guo, Liangjie Guo, Shixiu Liao
Waardenburg syndrome (WS) is an auditory‑pigmentary disorder with varying combinations of sensorineural hearing loss and abnormal pigmentation. The present study aimed to investigate the underlying molecular pathology and provide a method of prenatal diagnosis of WS in Chinese families. A total of 11 patients with WS from five unrelated Chinese families were enrolled. A thorough clinical examination was performed on all participants. Furthermore, patients with WS underwent screening for mutations in the following genes: Paired box 3 (PAX3), melanogenesis associated transcription factor (MITF), SRY‑box 10, snail family transcriptional repressor 2 and endothelin receptor type B using polymerase chain reaction sequencing...
October 25, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29079520/zac1-gpr39-phosphorylating-camk-ii-contributes-to-the-distinct-roles-of-pax3-and-pax7-in-myogenic-progression
#12
Qiumei Yang, Ye Li, Xulong Zhang, Daiwen Chen
Both Pax3 and Pax7 can activate a large panel of genes involved in muscle stem cell function. Despite a significant overlap in their transcriptional network, functional difference between them is observed. After overexpressing Pax3 or Pax7 in C2C12, we find both Zac1 and GPR39 are upregulated by Pax7 but not Pax3. Further studies suggest Zac1 interacts directly with Pax7, which can regulate GPR39 expression by activating Zac1. In addition, the effect of Zac1/GPR39 system on myogenic progression has been illuminated: Zac1/GPR39 can promote myogenic differentiation and produce type-II muscle fibers...
November 2, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29062096/functional-role-of-cyclin-dependent-kinase-5-in-the-regulation-of-melanogenesis-and-epidermal-structure
#13
Changsheng Dong, Shanshan Yang, Ruiwen Fan, Kaiyuan Ji, Junzhen Zhang, Xuexian Liu, Shuaipeng Hu, Jianshan Xie, Yu Liu, Wenjun Gao, Haidong Wang, Jianbo Yao, George W Smith, Muren Herrid
The mammalian integumentary system plays important roles in body homeostasis, and dysfunction of melanogenesis or epidermal development may lead to a variety of skin diseases, including melanoma. Skin pigmentation in humans and coat color in fleece-producing animals are regulated by many genes. Among them, microphthalmia-associated transcription factor (MITF) and paired-box 3 (PAX3) are at the top of the cascade and regulate activities of many important melanogenic enzymes. Here, we report for the first time that cyclin-dependent kinase 5 (Cdk5) is an essential regulator of MITF and PAX3...
October 23, 2017: Scientific Reports
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
#14
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
#15
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...
December 15, 2017: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/29035460/pleural-alveolar-rhabdomyosarcoma
#16
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
#17
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
#18
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
#19
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
#20
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
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