Matches in SemOpenAlex for { <https://semopenalex.org/work/W2800331334> ?p ?o ?g. }
- W2800331334 endingPage "157" @default.
- W2800331334 startingPage "145" @default.
- W2800331334 abstract "The PAX3 gene encodes a member of the PAX family of transcription factors that is characterized by a highly conserved paired box motif. The PAX3 protein is a transcription factor consisting of an N-terminal DNA binding domain (containing a paired box and homeodomain) and a C-terminal transcriptional activation domain. This protein is expressed during development of skeletal muscle, central nervous system and neural crest derivatives, and regulates expression of target genes that impact on proliferation, survival, differentiation and motility in these lineages. Germline mutations of the murine Pax3 and human PAX3 genes cause deficiencies in these developmental lineages and result in the Splotch phenotype and Waardenburg syndrome, respectively. Somatic genetic rearrangements that juxtapose the PAX3 DNA binding domain to the transcriptional activation domain of other transcription factors deregulate PAX3 function and contribute to the pathogenesis of the soft tissue cancers alveolar rhabdomyosarcoma and biphenotypic sinonasal sarcoma. The wild-type PAX3 protein is also expressed in other cancers related to developmental lineages that normally express this protein and exerts phenotypic effects related to its normal developmental role." @default.
- W2800331334 created "2018-05-17" @default.
- W2800331334 creator A5025441472 @default.
- W2800331334 creator A5026719110 @default.
- W2800331334 creator A5045440443 @default.
- W2800331334 creator A5057394449 @default.
- W2800331334 creator A5059592098 @default.
- W2800331334 date "2018-08-01" @default.
- W2800331334 modified "2023-10-14" @default.
- W2800331334 title "The expression and function of PAX3 in development and disease" @default.
- W2800331334 cites W110925524 @default.
- W2800331334 cites W1501165471 @default.
- W2800331334 cites W1522685125 @default.
- W2800331334 cites W1536492008 @default.
- W2800331334 cites W1543193184 @default.
- W2800331334 cites W1576876710 @default.
- W2800331334 cites W1585473102 @default.
- W2800331334 cites W1596733933 @default.
- W2800331334 cites W161542421 @default.
- W2800331334 cites W1664772138 @default.
- W2800331334 cites W1776445136 @default.
- W2800331334 cites W1807580977 @default.
- W2800331334 cites W1826033224 @default.
- W2800331334 cites W185399920 @default.
- W2800331334 cites W1860843617 @default.
- W2800331334 cites W1896595148 @default.
- W2800331334 cites W1917821784 @default.
- W2800331334 cites W1966155043 @default.
- W2800331334 cites W1966469589 @default.
- W2800331334 cites W1967191615 @default.
- W2800331334 cites W1969043956 @default.
- W2800331334 cites W1971340583 @default.
- W2800331334 cites W1972551270 @default.
- W2800331334 cites W1972607682 @default.
- W2800331334 cites W1972774285 @default.
- W2800331334 cites W1973920476 @default.
- W2800331334 cites W1974137472 @default.
- W2800331334 cites W1978471017 @default.
- W2800331334 cites W1979039549 @default.
- W2800331334 cites W1979636181 @default.
- W2800331334 cites W1981174412 @default.
- W2800331334 cites W1981309890 @default.
- W2800331334 cites W1984176455 @default.
- W2800331334 cites W1984751884 @default.
- W2800331334 cites W1985293431 @default.
- W2800331334 cites W1985368135 @default.
- W2800331334 cites W1987196650 @default.
- W2800331334 cites W1987590349 @default.
- W2800331334 cites W1988326345 @default.
- W2800331334 cites W1988769766 @default.
- W2800331334 cites W1990611116 @default.
- W2800331334 cites W1990786422 @default.
- W2800331334 cites W1994032413 @default.
- W2800331334 cites W1994899733 @default.
- W2800331334 cites W1995968204 @default.
- W2800331334 cites W1999638259 @default.
- W2800331334 cites W2000146676 @default.
- W2800331334 cites W2002388584 @default.
- W2800331334 cites W2002813441 @default.
- W2800331334 cites W2004266019 @default.
- W2800331334 cites W2004602258 @default.
- W2800331334 cites W2005591556 @default.
- W2800331334 cites W2008549284 @default.
- W2800331334 cites W2008901697 @default.
- W2800331334 cites W2010057348 @default.
- W2800331334 cites W2012450328 @default.
- W2800331334 cites W2013501543 @default.
- W2800331334 cites W2013659362 @default.
- W2800331334 cites W2015448530 @default.
- W2800331334 cites W2019529018 @default.
- W2800331334 cites W2019686407 @default.
- W2800331334 cites W2020233730 @default.
- W2800331334 cites W2021101581 @default.
- W2800331334 cites W2021138512 @default.
- W2800331334 cites W2022787753 @default.
- W2800331334 cites W2024405578 @default.
- W2800331334 cites W2025909136 @default.
- W2800331334 cites W2027481001 @default.
- W2800331334 cites W2030185427 @default.
- W2800331334 cites W2033407338 @default.
- W2800331334 cites W2033971631 @default.
- W2800331334 cites W2034389512 @default.
- W2800331334 cites W2034855570 @default.
- W2800331334 cites W2037100222 @default.
- W2800331334 cites W2039768718 @default.
- W2800331334 cites W2040915596 @default.
- W2800331334 cites W2043491104 @default.
- W2800331334 cites W2045594625 @default.
- W2800331334 cites W2046548473 @default.
- W2800331334 cites W2047608903 @default.
- W2800331334 cites W2049053107 @default.
- W2800331334 cites W2049215950 @default.
- W2800331334 cites W2052207224 @default.
- W2800331334 cites W2054834280 @default.
- W2800331334 cites W2054894559 @default.
- W2800331334 cites W2056142961 @default.
- W2800331334 cites W2057849896 @default.
- W2800331334 cites W2059381746 @default.