McCallion AS - Search Results

1

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

Emison ES, McCallion AS, Kashuk CS, Bush RT, Grice E, Lin S, Portnoy ME, Cutler DJ, Green ED, Chakravarti A. Emison ES, et al. Among authors: mccallion as. Nature. 2005 Apr 14;434(7035):857-63. doi: 10.1038/nature03467. Nature. 2005. PMID: 15829955

2

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

Carrasquillo MM, McCallion AS, Puffenberger EG, Kashuk CS, Nouri N, Chakravarti A. Carrasquillo MM, et al. Among authors: mccallion as. Nat Genet. 2002 Oct;32(2):237-44. doi: 10.1038/ng998. Epub 2002 Sep 23. Nat Genet. 2002. PMID: 12355085

3

Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb.

McCallion AS, Stames E, Conlon RA, Chakravarti A. McCallion AS, et al. Proc Natl Acad Sci U S A. 2003 Feb 18;100(4):1826-31. doi: 10.1073/pnas.0337540100. Epub 2003 Feb 6. Proc Natl Acad Sci U S A. 2003. PMID: 12574515 Free PMC article.

4

Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence.

Kashuk CS, Stone EA, Grice EA, Portnoy ME, Green ED, Sidow A, Chakravarti A, McCallion AS. Kashuk CS, et al. Among authors: mccallion as. Proc Natl Acad Sci U S A. 2005 Jun 21;102(25):8949-54. doi: 10.1073/pnas.0503259102. Epub 2005 Jun 13. Proc Natl Acad Sci U S A. 2005. PMID: 15956201 Free PMC article.

5

Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer.

Grice EA, Rochelle ES, Green ED, Chakravarti A, McCallion AS. Grice EA, et al. Among authors: mccallion as. Hum Mol Genet. 2005 Dec 15;14(24):3837-45. doi: 10.1093/hmg/ddi408. Epub 2005 Nov 3. Hum Mol Genet. 2005. PMID: 16269442

6

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.

Emison ES, Garcia-Barcelo M, Grice EA, Lantieri F, Amiel J, Burzynski G, Fernandez RM, Hao L, Kashuk C, West K, Miao X, Tam PK, Griseri P, Ceccherini I, Pelet A, Jannot AS, de Pontual L, Henrion-Caude A, Lyonnet S, Verheij JB, Hofstra RM, Antiñolo G, Borrego S, McCallion AS, Chakravarti A. Emison ES, et al. Among authors: mccallion as. Am J Hum Genet. 2010 Jul 9;87(1):60-74. doi: 10.1016/j.ajhg.2010.06.007. Am J Hum Genet. 2010. PMID: 20598273 Free PMC article.

7

EDNRB/EDN3 and Hirschsprung disease type II.

McCallion AS, Chakravarti A. McCallion AS, et al. Pigment Cell Res. 2001 Jun;14(3):161-9. doi: 10.1034/j.1600-0749.2001.140305.x. Pigment Cell Res. 2001. PMID: 11434563 Review.

8

Genomic variation in multigenic traits: Hirschsprung disease.

McCallion AS, Emison ES, Kashuk CS, Bush RT, Kenton M, Carrasquillo MM, Jones KW, Kennedy GC, Portnoy ME, Green ED, Chakravarti A. McCallion AS, et al. Cold Spring Harb Symp Quant Biol. 2003;68:373-81. doi: 10.1101/sqb.2003.68.373. Cold Spring Harb Symp Quant Biol. 2003. PMID: 15338639 No abstract available.

9

Conservation of RET regulatory function from human to zebrafish without sequence similarity.

Fisher S, Grice EA, Vinton RM, Bessling SL, McCallion AS. Fisher S, et al. Among authors: mccallion as. Science. 2006 Apr 14;312(5771):276-9. doi: 10.1126/science.1124070. Epub 2006 Mar 23. Science. 2006. PMID: 16556802

10

Evaluating the biological relevance of putative enhancers using Tol2 transposon-mediated transgenesis in zebrafish.

Fisher S, Grice EA, Vinton RM, Bessling SL, Urasaki A, Kawakami K, McCallion AS. Fisher S, et al. Among authors: mccallion as. Nat Protoc. 2006;1(3):1297-305. doi: 10.1038/nprot.2006.230. Nat Protoc. 2006. PMID: 17406414

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