Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

Author:

Carrasquillo Minerva M.,McCallion Andrew S.,Puffenberger Erik G.,Kashuk Carl S.,Nouri Nassim,Chakravarti Aravinda

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Reference37 articles.

1. Puffenberger, E.G. et al. Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum. Mol. Genet. 3, 1217–1225 (1994).

2. Puffenberger, E.G. et al. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 79, 1257–1266 (1994).

3. Badner, J.A., Sieber, W.K., Garver, K.L. & Chakravarti, A. A genetic study of Hirschsprung disease. Am. J. Hum. Genet. 46, 568–580 (1990).

4. Chakravarti, A. & Lyonnet, S. Hirschsprung disease. in The Metabolic and Molecular Bases of Inherited Disease 8th edn (eds Scriver, C.R., Beaudet, A.L., Valle, D., Sly, W.S., Childs, B., Kinzler, K. & Vogelstein, B.) 6231–6255 (McGraw–Hill, New York, 2001).

5. Amiel, J. et al. Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. Am. J. Hum. Genet. 69, 1370–1377 (2001).

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