Search results for "PAX3 Transcription Factor"

showing 3 items of 3 documents

Identification and Characterization of the Dermal Panniculus Carnosus Muscle Stem Cells

2016

Summary The dermal Panniculus carnosus (PC) muscle is important for wound contraction in lower mammals and represents an interesting model of muscle regeneration due to its high cell turnover. The resident satellite cells (the bona fide muscle stem cells) remain poorly characterized. Here we analyzed PC satellite cells with regard to developmental origin and purported function. Lineage tracing shows that they originate in Myf5+, Pax3/Pax7+ cell populations. Skin and muscle wounding increased PC myofiber turnover, with the satellite cell progeny being involved in muscle regeneration but with no detectable contribution to the wound-bed myofibroblasts. Since hematopoietic stem cells fuse to PC…

0301 basic medicineWOUNDSCellular differentiation[SDV]Life Sciences [q-bio]CellCell Culture TechniquesMuscle DevelopmentMOUSEBiochemistryMicelcsh:QH301-705.5ComputingMilieux_MISCELLANEOUSlcsh:R5-920Gene Expression Regulation DevelopmentalPAX7 Transcription FactorCell Differentiation3. Good healthPanniculus carnosusCell biologyHaematopoiesisPhenotypemedicine.anatomical_structureMOUSE;TISSUE;REPAIR;WOUNDS;MYOGENESIS;EXPRESSION;SKIN;MODEL;SATELLITE CELLS;SKELETAL-MUSCLESKELETAL-MUSCLEMYF5Stem celllcsh:Medicine (General)EXPRESSIONSatellite Cells Skeletal MuscleBone Marrow CellsMice TransgenicBiologyArticleMYOGENESIS03 medical and health sciencesSATELLITE CELLSGeneticsmedicineAnimalsRegenerationCell LineageMuscle SkeletalPAX3 Transcription FactorCell ProliferationREPAIR[ SDV ] Life Sciences [q-bio]Cell growthCell BiologyMODEL030104 developmental biologylcsh:Biology (General)Cell cultureTISSUEImmunologyBiomarkersSKINDevelopmental BiologyStem Cell Reports
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Waardenburg syndrome type I: dental phenotypes and genetic analysis of an extended family

2016

Background: The aim of this study was to describe the pattern of inheritance and the clinical features in a large family with Waardenburg syndrome type I (WS1), detailing the dental abnormalities and screening for PAX3 mutations. Material and Methods: To characterize the pattern of inheritance and clinical features, 29 family members were evaluated by dermatologic, ophthalmologic, otorhinolaryngologic and orofacial examination. Molecular analysis of the PAX3 gene was performed. Results: The pedigree of the family,including the last four generations, was constructed and revealed non-consanguineous marriages. Out of 29 descendants, 16 family members showed features of WS1, with 9 members show…

0301 basic medicineWaardenburg Syndrome Type IPAX3OdontologíaEsthetics DentalGenetic analysis03 medical and health sciencesMedicineHumansWaardenburg SyndromeGeneral DentistryPAX3 Transcription FactorGeneticsDental Enamel HypoplasiaOral Medicine and Pathologybusiness.industryWaardenburg syndromeResearchExtended familymedicine.disease:CIENCIAS MÉDICAS [UNESCO]PhenotypeCiencias de la saludPedigreestomatognathic diseases030104 developmental biologyPhenotypeOtorhinolaryngologyUNESCO::CIENCIAS MÉDICASSurgeryDental Enamel Hypoplasiabusiness
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Cytogenetic and molecular findings related to rhabdomyosarcoma. An analysis of seven cases.

2003

Rhabdomyosarcoma (RMS) is the most common soft-tissue sarcoma in childhood. Histologically, it is subdivided histologically into two main subtypes: alveolar (ARMS) and embryonal (ERMS). ARMS is characterized by t(2;13)(q35;q14) or its variant t(1;13)(p36;q14), which fuse PAX3 and PAX7, respectively, with FKHR to produce chimeric genes. ERMS is frequently associated with loss of heterozygosity of 11p15.5. We investigated seven RMS (three ARMS and four ERMS) by means of cytogenetic, fluorescence in situ hybridization, and molecular analyses, including the study of the main genes implicated in the G1- to S-phase cell cycle transition, and correlated these studies with pathologic findings and c…

MaleCancer ResearchPAX3Genes mycLocus (genetics)Chimeric geneBiologyLoss of heterozygosityGene duplicationRhabdomyosarcomaGeneticsmedicineHumansPaired Box Transcription FactorsRhabdomyosarcomaChildMolecular BiologyPAX3 Transcription FactorIn Situ Hybridization FluorescenceChromosome AberrationsHomeodomain Proteinsmedicine.diagnostic_testForkhead Box Protein O1Hybridization probePAX7 Transcription FactorForkhead Transcription Factorsmedicine.diseaseMolecular biologyDNA-Binding ProteinsChild PreschoolFemaleFluorescence in situ hybridizationTranscription FactorsCancer genetics and cytogenetics
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