Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR)

The activation of the RET signaling pathway during embryogenesis is a crucial prerequisite for a directional migration of enteric nervous system progenitor cells. Loss-of-function germline mutations of the RET proto-oncogene are reported in familial and sporadic cases of Hirschsprung disease (HSCR)...

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Veröffentlicht in:	Human molecular genetics 2003-12, Vol.12 (24), p.3207-3214
Hauptverfasser:	Fitze, Guido, Appelt, Hella, König, Inke R., Görgens, Heike, Stein, Ulrike, Walther, Wolfgang, Gossen, Manfred, Schreiber, Matthias, Ziegler, Andreas, Roesner, Dietmar, Schackert, Hans K.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Classical genetics, quantitative genetics, hybrids Female Fundamental and applied biological sciences. Psychology Gene Frequency Genetics of eukaryotes. Biological and molecular evolution Haplotypes Hirschsprung disease Hirschsprung Disease - genetics Human Humans Male Polymorphism, Genetic Promoter Regions, Genetic Proto-Oncogene Proteins - genetics Proto-Oncogene Proteins - metabolism Proto-Oncogene Proteins c-ret Receptor Protein-Tyrosine Kinases - genetics Receptor Protein-Tyrosine Kinases - metabolism RET gene Signal Transduction Tumor Cells, Cultured
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